Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.40396078C>ACA9444089PRXc.2274G>T (p.Met758Ile)
c.1857G>T (p.Met619Ile)
c.2559G>T (p.Met853Ile)
c.2149G>T
c.2135G>T
c.2236G>T
c.2161G>T
c.*2479G>T (n.*2479G>T)
c.2172G>T (p.Met724Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396078C=CA2335961449PRXc.2274G= (p.Met758=)
c.1857G= (p.Met619=)
c.2559G= (p.Met853=)
c.2149G=
c.2135G=
c.2236G=
c.2161G=
c.*2479G= (n.*2479G=)
c.2172G= (p.Met724=)
19g.40396078C>GCA405896635PRXc.2274G>C (p.Met758Ile)
c.1857G>C (p.Met619Ile)
c.2559G>C (p.Met853Ile)
c.2149G>C
c.2135G>C
c.2236G>C
c.2161G>C
c.*2479G>C (n.*2479G>C)
c.2172G>C (p.Met724Ile)
19g.40396078C>TCA405896636PRXc.2274G>A (p.Met758Ile)
c.1857G>A (p.Met619Ile)
c.2559G>A (p.Met853Ile)
c.2149G>A
c.2135G>A
c.2236G>A
c.2161G>A
c.*2479G>A (n.*2479G>A)
c.2172G>A (p.Met724Ile)
19g.40396079A>CCA405896637PRXc.2273T>G (p.Met758Arg)
c.1856T>G (p.Met619Arg)
c.2558T>G (p.Met853Arg)
c.2148T>G
c.2134T>G
c.2235T>G
c.2160T>G
c.*2478T>G (n.*2478T>G)
c.2171T>G (p.Met724Arg)
19g.40396079A>GCA405896638PRXc.2273T>C (p.Met758Thr)
c.1856T>C (p.Met619Thr)
c.2558T>C (p.Met853Thr)
c.2148T>C
c.2134T>C
c.2235T>C
c.2160T>C
c.*2478T>C (n.*2478T>C)
c.2171T>C (p.Met724Thr)
19g.40396079A>TCA405896639PRXc.2273T>A (p.Met758Lys)
c.1856T>A (p.Met619Lys)
c.2558T>A (p.Met853Lys)
c.2148T>A
c.2134T>A
c.2235T>A
c.2160T>A
c.*2478T>A (n.*2478T>A)
c.2171T>A (p.Met724Lys)
19g.40396080T>ACA405896640PRXc.2272A>T (p.Met758Leu)
c.1855A>T (p.Met619Leu)
c.2557A>T (p.Met853Leu)
c.2147A>T
c.2133A>T
c.2234A>T
c.2159A>T
c.*2477A>T (n.*2477A>T)
c.2170A>T (p.Met724Leu)
dbSNP
19g.40396080T>CCA405896642PRXc.2272A>G (p.Met758Val)
c.1855A>G (p.Met619Val)
c.2557A>G (p.Met853Val)
c.2147A>G
c.2133A>G
c.2234A>G
c.2159A>G
c.*2477A>G (n.*2477A>G)
c.2170A>G (p.Met724Val)
19g.40396080T>GCA405896641PRXc.2272A>C (p.Met758Leu)
c.1855A>C (p.Met619Leu)
c.2557A>C (p.Met853Leu)
c.2147A>C
c.2133A>C
c.2234A>C
c.2159A>C
c.*2477A>C (n.*2477A>C)
c.2170A>C (p.Met724Leu)
19g.40396080T=CA2335961450PRXc.2272A= (p.Met758=)
c.1855A= (p.Met619=)
c.2557A= (p.Met853=)
c.2147A=
c.2133A=
c.2234A=
c.2159A=
c.*2477A= (n.*2477A=)
c.2170A= (p.Met724=)
19g.40396081T>ACA405896643PRXc.2271A>T (p.Glu757Asp)
c.1854A>T (p.Glu618Asp)
c.2556A>T (p.Glu852Asp)
c.2146A>T
c.2132A>T
c.2233A>T
c.2158A>T
c.*2476A>T (n.*2476A>T)
c.2169A>T (p.Glu723Asp)
19g.40396081T>CCA507679272PRXc.2271A>G (p.Glu757=)
c.1854A>G (p.Glu618=)
c.2556A>G (p.Glu852=)
c.2146A>G
c.2132A>G
c.2233A>G
c.2158A>G
c.*2476A>G (n.*2476A>G)
c.2169A>G (p.Glu723=)
19g.40396081T>GCA405896644PRXc.2271A>C (p.Glu757Asp)
c.1854A>C (p.Glu618Asp)
c.2556A>C (p.Glu852Asp)
c.2146A>C
c.2132A>C
c.2233A>C
c.2158A>C
c.*2476A>C (n.*2476A>C)
c.2169A>C (p.Glu723Asp)
19g.40396082T>ACA405896645PRXc.2270A>T (p.Glu757Val)
c.1853A>T (p.Glu618Val)
c.2555A>T (p.Glu852Val)
c.2145A>T
c.2131A>T
c.2232A>T
c.2157A>T
c.*2475A>T (n.*2475A>T)
c.2168A>T (p.Glu723Val)
19g.40396082T>CCA405896646PRXc.2270A>G (p.Glu757Gly)
c.1853A>G (p.Glu618Gly)
c.2555A>G (p.Glu852Gly)
c.2145A>G
c.2131A>G
c.2232A>G
c.2157A>G
c.*2475A>G (n.*2475A>G)
c.2168A>G (p.Glu723Gly)
19g.40396082T>GCA405896647PRXc.2270A>C (p.Glu757Ala)
c.1853A>C (p.Glu618Ala)
c.2555A>C (p.Glu852Ala)
c.2145A>C
c.2131A>C
c.2232A>C
c.2157A>C
c.*2475A>C (n.*2475A>C)
c.2168A>C (p.Glu723Ala)
19g.40396083C>ACA405896648PRXc.2269G>T (p.Glu757Ter)
c.1852G>T (p.Glu618Ter)
c.2554G>T (p.Glu852Ter)
c.2144G>T
c.2130G>T
c.2231G>T
c.2156G>T
c.*2474G>T (n.*2474G>T)
c.2167G>T (p.Glu723Ter)
19g.40396083C>GCA405896649PRXc.2269G>C (p.Glu757Gln)
c.1852G>C (p.Glu618Gln)
c.2554G>C (p.Glu852Gln)
c.2144G>C
c.2130G>C
c.2231G>C
c.2156G>C
c.*2474G>C (n.*2474G>C)
c.2167G>C (p.Glu723Gln)
19g.40396083C>TCA405896650PRXc.2269G>A (p.Glu757Lys)
c.1852G>A (p.Glu618Lys)
c.2554G>A (p.Glu852Lys)
c.2144G>A
c.2130G>A
c.2231G>A
c.2156G>A
c.*2474G>A (n.*2474G>A)
c.2167G>A (p.Glu723Lys)
19g.40396084C>ACA507679276PRXc.2268G>T (p.Pro756=)
c.1851G>T (p.Pro617=)
c.2553G>T (p.Pro851=)
c.2143G>T
c.2129G>T
c.2230G>T
c.2155G>T
c.*2473G>T (n.*2473G>T)
c.2166G>T (p.Pro722=)
19g.40396084C=CA2335961451PRXc.2268G= (p.Pro756=)
c.1851G= (p.Pro617=)
c.2553G= (p.Pro851=)
c.2143G=
c.2129G=
c.2230G=
c.2155G=
c.*2473G= (n.*2473G=)
c.2166G= (p.Pro722=)
19g.40396084C>GCA507679277PRXc.2268G>C (p.Pro756=)
c.1851G>C (p.Pro617=)
c.2553G>C (p.Pro851=)
c.2143G>C
c.2129G>C
c.2230G>C
c.2155G>C
c.*2473G>C (n.*2473G>C)
c.2166G>C (p.Pro722=)
19g.40396084C>TCA9444090PRXc.2268G>A (p.Pro756=)
c.1851G>A (p.Pro617=)
c.2553G>A (p.Pro851=)
c.2143G>A
c.2129G>A
c.2230G>A
c.2155G>A
c.*2473G>A (n.*2473G>A)
c.2166G>A (p.Pro722=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.40396085G>ACA9444091PRXc.2267C>T (p.Pro756Leu)
c.1850C>T (p.Pro617Leu)
c.2552C>T (p.Pro851Leu)
c.2142C>T
c.2128C>T
c.2229C>T
c.2154C>T
c.*2472C>T (n.*2472C>T)
c.2165C>T (p.Pro722Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396085G>CCA405896651PRXc.2267C>G (p.Pro756Arg)
c.1850C>G (p.Pro617Arg)
c.2552C>G (p.Pro851Arg)
c.2142C>G
c.2128C>G
c.2229C>G
c.2154C>G
c.*2472C>G (n.*2472C>G)
c.2165C>G (p.Pro722Arg)
19g.40396085G=CA2335961452PRXc.2267C= (p.Pro756=)
c.1850C= (p.Pro617=)
c.2552C= (p.Pro851=)
c.2142C=
c.2128C=
c.2229C=
c.2154C=
c.*2472C= (n.*2472C=)
c.2165C= (p.Pro722=)
19g.40396085G>TCA405896652PRXc.2267C>A (p.Pro756Gln)
c.1850C>A (p.Pro617Gln)
c.2552C>A (p.Pro851Gln)
c.2142C>A
c.2128C>A
c.2229C>A
c.2154C>A
c.*2472C>A (n.*2472C>A)
c.2165C>A (p.Pro722Gln)
19g.40396086G>ACA9444092PRXc.2266C>T (p.Pro756Ser)
c.1849C>T (p.Pro617Ser)
c.2551C>T (p.Pro851Ser)
c.2141C>T
c.2127C>T
c.2228C>T
c.2153C>T
c.*2471C>T (n.*2471C>T)
c.2164C>T (p.Pro722Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.40396086G>CCA405896654PRXc.2266C>G (p.Pro756Ala)
c.1849C>G (p.Pro617Ala)
c.2551C>G (p.Pro851Ala)
c.2141C>G
c.2127C>G
c.2228C>G
c.2153C>G
c.*2471C>G (n.*2471C>G)
c.2164C>G (p.Pro722Ala)
19g.40396086G=CA2335961453PRXc.2266C= (p.Pro756=)
c.1849C= (p.Pro617=)
c.2551C= (p.Pro851=)
c.2141C=
c.2127C=
c.2228C=
c.2153C=
c.*2471C= (n.*2471C=)
c.2164C= (p.Pro722=)
19g.40396086G>TCA405896653PRXc.2266C>A (p.Pro756Thr)
c.1849C>A (p.Pro617Thr)
c.2551C>A (p.Pro851Thr)
c.2141C>A
c.2127C>A
c.2228C>A
c.2153C>A
c.*2471C>A (n.*2471C>A)
c.2164C>A (p.Pro722Thr)
19g.40396087C>ACA507679278PRXc.2265G>T (p.Leu755=)
c.1848G>T (p.Leu616=)
c.2550G>T (p.Leu850=)
c.2140G>T
c.2126G>T
c.2227G>T
c.2152G>T
c.*2470G>T (n.*2470G>T)
c.2163G>T (p.Leu721=)
19g.40396087C=CA2335961454PRXc.2265G= (p.Leu755=)
c.1848G= (p.Leu616=)
c.2550G= (p.Leu850=)
c.2140G=
c.2126G=
c.2227G=
c.2152G=
c.*2470G= (n.*2470G=)
c.2163G= (p.Leu721=)
19g.40396087C>GCA507679279PRXc.2265G>C (p.Leu755=)
c.1848G>C (p.Leu616=)
c.2550G>C (p.Leu850=)
c.2140G>C
c.2126G>C
c.2227G>C
c.2152G>C
c.*2470G>C (n.*2470G>C)
c.2163G>C (p.Leu721=)
19g.40396087C>TCA9444093PRXc.2265G>A (p.Leu755=)
c.1848G>A (p.Leu616=)
c.2550G>A (p.Leu850=)
c.2140G>A
c.2126G>A
c.2227G>A
c.2152G>A
c.*2470G>A (n.*2470G>A)
c.2163G>A (p.Leu721=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396088A=CA2335961455PRXc.2264T= (p.Leu755=)
c.1847T= (p.Leu616=)
c.2549T= (p.Leu850=)
c.2139T=
c.2125T=
c.2226T=
c.2151T=
c.*2469T= (n.*2469T=)
c.2162T= (p.Leu721=)
19g.40396088A>CCA405896656PRXc.2264T>G (p.Leu755Arg)
c.1847T>G (p.Leu616Arg)
c.2549T>G (p.Leu850Arg)
c.2139T>G
c.2125T>G
c.2226T>G
c.2151T>G
c.*2469T>G (n.*2469T>G)
c.2162T>G (p.Leu721Arg)
19g.40396088A>GCA405896655PRXc.2264T>C (p.Leu755Pro)
c.1847T>C (p.Leu616Pro)
c.2549T>C (p.Leu850Pro)
c.2139T>C
c.2125T>C
c.2226T>C
c.2151T>C
c.*2469T>C (n.*2469T>C)
c.2162T>C (p.Leu721Pro)
19g.40396088A>TCA405896657PRXc.2264T>A (p.Leu755Gln)
c.1847T>A (p.Leu616Gln)
c.2549T>A (p.Leu850Gln)
c.2139T>A
c.2125T>A
c.2226T>A
c.2151T>A
c.*2469T>A (n.*2469T>A)
c.2162T>A (p.Leu721Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40396089G>ACA507679280PRXc.2263C>T (p.Leu755=)
c.1846C>T (p.Leu616=)
c.2548C>T (p.Leu850=)
c.2138C>T
c.2124C>T
c.2225C>T
c.2150C>T
c.*2468C>T (n.*2468C>T)
c.2161C>T (p.Leu721=)
19g.40396089G>CCA405896658PRXc.2263C>G (p.Leu755Val)
c.1846C>G (p.Leu616Val)
c.2548C>G (p.Leu850Val)
c.2138C>G
c.2124C>G
c.2225C>G
c.2150C>G
c.*2468C>G (n.*2468C>G)
c.2161C>G (p.Leu721Val)
19g.40396089G>TCA405896659PRXc.2263C>A (p.Leu755Met)
c.1846C>A (p.Leu616Met)
c.2548C>A (p.Leu850Met)
c.2138C>A
c.2124C>A
c.2225C>A
c.2150C>A
c.*2468C>A (n.*2468C>A)
c.2161C>A (p.Leu721Met)
19g.40396090C>ACA507679281PRXc.2262G>T (p.Arg754=)
c.1845G>T (p.Arg615=)
c.2547G>T (p.Arg849=)
c.2137G>T
c.2123G>T
c.2224G>T
c.2149G>T
c.*2467G>T (n.*2467G>T)
c.2160G>T (p.Arg720=)
19g.40396090C>GCA507679282PRXc.2262G>C (p.Arg754=)
c.1845G>C (p.Arg615=)
c.2547G>C (p.Arg849=)
c.2137G>C
c.2123G>C
c.2224G>C
c.2149G>C
c.*2467G>C (n.*2467G>C)
c.2160G>C (p.Arg720=)
gnomAD v4
19g.40396090C>TCA507679283PRXc.2262G>A (p.Arg754=)
c.1845G>A (p.Arg615=)
c.2547G>A (p.Arg849=)
c.2137G>A
c.2123G>A
c.2224G>A
c.2149G>A
c.*2467G>A (n.*2467G>A)
c.2160G>A (p.Arg720=)
19g.40396091C>ACA9444095PRXc.2261G>T (p.Arg754Leu)
c.1844G>T (p.Arg615Leu)
c.2546G>T (p.Arg849Leu)
c.2136G>T
c.2122G>T
c.2223G>T
c.2148G>T
c.*2466G>T (n.*2466G>T)
c.2159G>T (p.Arg720Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396091C=CA2335961456PRXc.2261G= (p.Arg754=)
c.1844G= (p.Arg615=)
c.2546G= (p.Arg849=)
c.2136G=
c.2122G=
c.2223G=
c.2148G=
c.*2466G= (n.*2466G=)
c.2159G= (p.Arg720=)
19g.40396091C>GCA405896660PRXc.2261G>C (p.Arg754Pro)
c.1844G>C (p.Arg615Pro)
c.2546G>C (p.Arg849Pro)
c.2136G>C
c.2122G>C
c.2223G>C
c.2148G>C
c.*2466G>C (n.*2466G>C)
c.2159G>C (p.Arg720Pro)
19g.40396091C>TCA9444094PRXc.2261G>A (p.Arg754Gln)
c.1844G>A (p.Arg615Gln)
c.2546G>A (p.Arg849Gln)
c.2136G>A
c.2122G>A
c.2223G>A
c.2148G>A
c.*2466G>A (n.*2466G>A)
c.2159G>A (p.Arg720Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396092G>ACA9444096PRXc.2260C>T (p.Arg754Trp)
c.1843C>T (p.Arg615Trp)
c.2545C>T (p.Arg849Trp)
c.2135C>T
c.2121C>T
c.2222C>T
c.2147C>T
c.*2465C>T (n.*2465C>T)
c.2158C>T (p.Arg720Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396092G>CCA9444097PRXc.2260C>G (p.Arg754Gly)
c.1843C>G (p.Arg615Gly)
c.2545C>G (p.Arg849Gly)
c.2135C>G
c.2121C>G
c.2222C>G
c.2147C>G
c.*2465C>G (n.*2465C>G)
c.2158C>G (p.Arg720Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.40396092G=CA2335961457PRXc.2260C= (p.Arg754=)
c.1843C= (p.Arg615=)
c.2545C= (p.Arg849=)
c.2135C=
c.2121C=
c.2222C=
c.2147C=
c.*2465C= (n.*2465C=)
c.2158C= (p.Arg720=)
19g.40396092G>TCA507679285PRXc.2260C>A (p.Arg754=)
c.1843C>A (p.Arg615=)
c.2545C>A (p.Arg849=)
c.2135C>A
c.2121C>A
c.2222C>A
c.2147C>A
c.*2465C>A (n.*2465C>A)
c.2158C>A (p.Arg720=)
19g.40396093A>CCA405896661PRXc.2259T>G (p.Ile753Met)
c.1842T>G (p.Ile614Met)
c.2544T>G (p.Ile848Met)
c.2134T>G
c.2120T>G
c.2221T>G
c.2146T>G
c.*2464T>G (n.*2464T>G)
c.2157T>G (p.Ile719Met)
19g.40396093A>GCA507679286PRXc.2259T>C (p.Ile753=)
c.1842T>C (p.Ile614=)
c.2544T>C (p.Ile848=)
c.2134T>C
c.2120T>C
c.2221T>C
c.2146T>C
c.*2464T>C (n.*2464T>C)
c.2157T>C (p.Ile719=)
19g.40396093A>TCA507679287PRXc.2259T>A (p.Ile753=)
c.1842T>A (p.Ile614=)
c.2544T>A (p.Ile848=)
c.2134T>A
c.2120T>A
c.2221T>A
c.2146T>A
c.*2464T>A (n.*2464T>A)
c.2157T>A (p.Ile719=)
gnomAD v4
19g.40396094A=CA2335961458PRXc.2258T= (p.Ile753=)
c.1841T= (p.Ile614=)
c.2543T= (p.Ile848=)
c.2133T=
c.2119T=
c.2220T=
c.2145T=
c.*2463T= (n.*2463T=)
c.2156T= (p.Ile719=)
19g.40396094A>CCA405896662PRXc.2258T>G (p.Ile753Ser)
c.1841T>G (p.Ile614Ser)
c.2543T>G (p.Ile848Ser)
c.2133T>G
c.2119T>G
c.2220T>G
c.2145T>G
c.*2463T>G (n.*2463T>G)
c.2156T>G (p.Ile719Ser)
19g.40396094A>GCA405896663PRXc.2258T>C (p.Ile753Thr)
c.1841T>C (p.Ile614Thr)
c.2543T>C (p.Ile848Thr)
c.2133T>C
c.2119T>C
c.2220T>C
c.2145T>C
c.*2463T>C (n.*2463T>C)
c.2156T>C (p.Ile719Thr)
dbSNP gnomAD v2 gnomAD v4
19g.40396094A>TCA405896664PRXc.2258T>A (p.Ile753Asn)
c.1841T>A (p.Ile614Asn)
c.2543T>A (p.Ile848Asn)
c.2133T>A
c.2119T>A
c.2220T>A
c.2145T>A
c.*2463T>A (n.*2463T>A)
c.2156T>A (p.Ile719Asn)
19g.40396095T>ACA405896667PRXc.2257A>T (p.Ile753Phe)
c.1840A>T (p.Ile614Phe)
c.2542A>T (p.Ile848Phe)
c.2132A>T
c.2118A>T
c.2219A>T
c.2144A>T
c.*2462A>T (n.*2462A>T)
c.2155A>T (p.Ile719Phe)
19g.40396095T>CCA405896666PRXc.2257A>G (p.Ile753Val)
c.1840A>G (p.Ile614Val)
c.2542A>G (p.Ile848Val)
c.2132A>G
c.2118A>G
c.2219A>G
c.2144A>G
c.*2462A>G (n.*2462A>G)
c.2155A>G (p.Ile719Val)
19g.40396095T>GCA405896665PRXc.2257A>C (p.Ile753Leu)
c.1840A>C (p.Ile614Leu)
c.2542A>C (p.Ile848Leu)
c.2132A>C
c.2118A>C
c.2219A>C
c.2144A>C
c.*2462A>C (n.*2462A>C)
c.2155A>C (p.Ile719Leu)
19g.40396096C>ACA405896668PRXc.2256G>T (p.Glu752Asp)
c.1839G>T (p.Glu613Asp)
c.2541G>T (p.Glu847Asp)
c.2131G>T
c.2117G>T
c.2218G>T
c.2143G>T
c.*2461G>T (n.*2461G>T)
c.2154G>T (p.Glu718Asp)
dbSNP
19g.40396096C=CA2335961459PRXc.2256G= (p.Glu752=)
c.1839G= (p.Glu613=)
c.2541G= (p.Glu847=)
c.2131G=
c.2117G=
c.2218G=
c.2143G=
c.*2461G= (n.*2461G=)
c.2154G= (p.Glu718=)
19g.40396096C>GCA405896669PRXc.2256G>C (p.Glu752Asp)
c.1839G>C (p.Glu613Asp)
c.2541G>C (p.Glu847Asp)
c.2131G>C
c.2117G>C
c.2218G>C
c.2143G>C
c.*2461G>C (n.*2461G>C)
c.2154G>C (p.Glu718Asp)
dbSNP gnomAD v4
19g.40396096C>TCA507679289PRXc.2256G>A (p.Glu752=)
c.1839G>A (p.Glu613=)
c.2541G>A (p.Glu847=)
c.2131G>A
c.2117G>A
c.2218G>A
c.2143G>A
c.*2461G>A (n.*2461G>A)
c.2154G>A (p.Glu718=)
19g.40396097T>ACA405896670PRXc.2255A>T (p.Glu752Val)
c.1838A>T (p.Glu613Val)
c.2540A>T (p.Glu847Val)
c.2130A>T
c.2116A>T
c.2217A>T
c.2142A>T
c.*2460A>T (n.*2460A>T)
c.2153A>T (p.Glu718Val)
19g.40396097T>CCA405896671PRXc.2255A>G (p.Glu752Gly)
c.1838A>G (p.Glu613Gly)
c.2540A>G (p.Glu847Gly)
c.2130A>G
c.2116A>G
c.2217A>G
c.2142A>G
c.*2460A>G (n.*2460A>G)
c.2153A>G (p.Glu718Gly)
19g.40396097T>GCA405896672PRXc.2255A>C (p.Glu752Ala)
c.1838A>C (p.Glu613Ala)
c.2540A>C (p.Glu847Ala)
c.2130A>C
c.2116A>C
c.2217A>C
c.2142A>C
c.*2460A>C (n.*2460A>C)
c.2153A>C (p.Glu718Ala)
19g.40396098C>ACA405896673PRXc.2254G>T (p.Glu752Ter)
c.1837G>T (p.Glu613Ter)
c.2539G>T (p.Glu847Ter)
c.2129G>T
c.2115G>T
c.2216G>T
c.2141G>T
c.*2459G>T (n.*2459G>T)
c.2152G>T (p.Glu718Ter)
19g.40396098C=CA2335961460PRXc.2254G= (p.Glu752=)
c.1837G= (p.Glu613=)
c.2539G= (p.Glu847=)
c.2129G=
c.2115G=
c.2216G=
c.2141G=
c.*2459G= (n.*2459G=)
c.2152G= (p.Glu718=)
19g.40396098C>GCA405896674PRXc.2254G>C (p.Glu752Gln)
c.1837G>C (p.Glu613Gln)
c.2539G>C (p.Glu847Gln)
c.2129G>C
c.2115G>C
c.2216G>C
c.2141G>C
c.*2459G>C (n.*2459G>C)
c.2152G>C (p.Glu718Gln)
COSMIC
19g.40396098C>TCA337174PRXc.2254G>A (p.Glu752Lys)
c.1837G>A (p.Glu613Lys)
c.2539G>A (p.Glu847Lys)
c.2129G>A
c.2115G>A
c.2216G>A
c.2141G>A
c.*2459G>A (n.*2459G>A)
c.2152G>A (p.Glu718Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396099T>ACA507679290PRXc.2253A>T (p.Ser751=)
c.1836A>T (p.Ser612=)
c.2538A>T (p.Ser846=)
c.2128A>T
c.2114A>T
c.2215A>T
c.2140A>T
c.*2458A>T (n.*2458A>T)
c.2151A>T (p.Ser717=)
19g.40396099T>CCA507679291PRXc.2253A>G (p.Ser751=)
c.1836A>G (p.Ser612=)
c.2538A>G (p.Ser846=)
c.2128A>G
c.2114A>G
c.2215A>G
c.2140A>G
c.*2458A>G (n.*2458A>G)
c.2151A>G (p.Ser717=)
19g.40396099T>GCA507679292PRXc.2253A>C (p.Ser751=)
c.1836A>C (p.Ser612=)
c.2538A>C (p.Ser846=)
c.2128A>C
c.2114A>C
c.2215A>C
c.2140A>C
c.*2458A>C (n.*2458A>C)
c.2151A>C (p.Ser717=)
19g.40396100G>ACA9444098PRXc.2252C>T (p.Ser751Leu)
c.1835C>T (p.Ser612Leu)
c.2537C>T (p.Ser846Leu)
c.2127C>T
c.2113C>T
c.2214C>T
c.2139C>T
c.*2457C>T (n.*2457C>T)
c.2150C>T (p.Ser717Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396100G>CCA405896675PRXc.2252C>G (p.Ser751Ter)
c.1835C>G (p.Ser612Ter)
c.2537C>G (p.Ser846Ter)
c.2127C>G
c.2113C>G
c.2214C>G
c.2139C>G
c.*2457C>G (n.*2457C>G)
c.2150C>G (p.Ser717Ter)
COSMIC
19g.40396100G=CA2335961461PRXc.2252C= (p.Ser751=)
c.1835C= (p.Ser612=)
c.2537C= (p.Ser846=)
c.2127C=
c.2113C=
c.2214C=
c.2139C=
c.*2457C= (n.*2457C=)
c.2150C= (p.Ser717=)
19g.40396100G>TCA405896676PRXc.2252C>A (p.Ser751Ter)
c.1835C>A (p.Ser612Ter)
c.2537C>A (p.Ser846Ter)
c.2127C>A
c.2113C>A
c.2214C>A
c.2139C>A
c.*2457C>A (n.*2457C>A)
c.2150C>A (p.Ser717Ter)
19g.40396101A>CCA405896679PRXc.2251T>G (p.Ser751Ala)
c.1834T>G (p.Ser612Ala)
c.2536T>G (p.Ser846Ala)
c.2126T>G
c.2112T>G
c.2213T>G
c.2138T>G
c.*2456T>G (n.*2456T>G)
c.2149T>G (p.Ser717Ala)
19g.40396101A>GCA405896678PRXc.2251T>C (p.Ser751Pro)
c.1834T>C (p.Ser612Pro)
c.2536T>C (p.Ser846Pro)
c.2126T>C
c.2112T>C
c.2213T>C
c.2138T>C
c.*2456T>C (n.*2456T>C)
c.2149T>C (p.Ser717Pro)
gnomAD v3 gnomAD v4
19g.40396101A>TCA405896677PRXc.2251T>A (p.Ser751Thr)
c.1834T>A (p.Ser612Thr)
c.2536T>A (p.Ser846Thr)
c.2126T>A
c.2112T>A
c.2213T>A
c.2138T>A
c.*2456T>A (n.*2456T>A)
c.2149T>A (p.Ser717Thr)
19g.40396102C>ACA507679296PRXc.2250G>T (p.Val750=)
c.1833G>T (p.Val611=)
c.2535G>T (p.Val845=)
c.2125G>T
c.2111G>T
c.2212G>T
c.2137G>T
c.*2455G>T (n.*2455G>T)
c.2148G>T (p.Val716=)
19g.40396102C=CA2335961462PRXc.2250G= (p.Val750=)
c.1833G= (p.Val611=)
c.2535G= (p.Val845=)
c.2125G=
c.2111G=
c.2212G=
c.2137G=
c.*2455G= (n.*2455G=)
c.2148G= (p.Val716=)
19g.40396102C>GCA507679297PRXc.2250G>C (p.Val750=)
c.1833G>C (p.Val611=)
c.2535G>C (p.Val845=)
c.2125G>C
c.2111G>C
c.2212G>C
c.2137G>C
c.*2455G>C (n.*2455G>C)
c.2148G>C (p.Val716=)
gnomAD v3 gnomAD v4
19g.40396102C>TCA507679298PRXc.2250G>A (p.Val750=)
c.1833G>A (p.Val611=)
c.2535G>A (p.Val845=)
c.2125G>A
c.2111G>A
c.2212G>A
c.2137G>A
c.*2455G>A (n.*2455G>A)
c.2148G>A (p.Val716=)
dbSNP
19g.40396103A=CA2335961463PRXc.2249T= (p.Val750=)
c.1832T= (p.Val611=)
c.2534T= (p.Val845=)
c.2124T=
c.2110T=
c.2211T=
c.2136T=
c.*2454T= (n.*2454T=)
c.2147T= (p.Val716=)
19g.40396103A>CCA405896680PRXc.2249T>G (p.Val750Gly)
c.1832T>G (p.Val611Gly)
c.2534T>G (p.Val845Gly)
c.2124T>G
c.2110T>G
c.2211T>G
c.2136T>G
c.*2454T>G (n.*2454T>G)
c.2147T>G (p.Val716Gly)
dbSNP
19g.40396103A>GCA308419560PRXc.2249T>C (p.Val750Ala)
c.1832T>C (p.Val611Ala)
c.2534T>C (p.Val845Ala)
c.2124T>C
c.2110T>C
c.2211T>C
c.2136T>C
c.*2454T>C (n.*2454T>C)
c.2147T>C (p.Val716Ala)
dbSNP gnomAD v4
19g.40396103A>TCA405896681PRXc.2249T>A (p.Val750Glu)
c.1832T>A (p.Val611Glu)
c.2534T>A (p.Val845Glu)
c.2124T>A
c.2110T>A
c.2211T>A
c.2136T>A
c.*2454T>A (n.*2454T>A)
c.2147T>A (p.Val716Glu)
gnomAD v4
19g.40396104C>ACA405896682PRXc.2248G>T (p.Val750Leu)
c.1831G>T (p.Val611Leu)
c.2533G>T (p.Val845Leu)
c.2123G>T
c.2109G>T
c.2210G>T
c.2135G>T
c.*2453G>T (n.*2453G>T)
c.2146G>T (p.Val716Leu)
19g.40396104C=CA2335961464PRXc.2248G= (p.Val750=)
c.1831G= (p.Val611=)
c.2533G= (p.Val845=)
c.2123G=
c.2109G=
c.2210G=
c.2135G=
c.*2453G= (n.*2453G=)
c.2146G= (p.Val716=)
19g.40396104C>GCA9444099PRXc.2248G>C (p.Val750Leu)
c.1831G>C (p.Val611Leu)
c.2533G>C (p.Val845Leu)
c.2123G>C
c.2109G>C
c.2210G>C
c.2135G>C
c.*2453G>C (n.*2453G>C)
c.2146G>C (p.Val716Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.40396104C>TCA405896683PRXc.2248G>A (p.Val750Met)
c.1831G>A (p.Val611Met)
c.2533G>A (p.Val845Met)
c.2123G>A
c.2109G>A
c.2210G>A
c.2135G>A
c.*2453G>A (n.*2453G>A)
c.2146G>A (p.Val716Met)
gnomAD v4
19g.40396105T>ACA308419562PRXc.2247A>T (p.Lys749Asn)
c.1830A>T (p.Lys610Asn)
c.2532A>T (p.Lys844Asn)
c.2122A>T
c.2108A>T
c.2209A>T
c.2134A>T
c.*2452A>T (n.*2452A>T)
c.2145A>T (p.Lys715Asn)
dbSNP gnomAD v4
19g.40396105T>CCA9444100PRXc.2247A>G (p.Lys749=)
c.1830A>G (p.Lys610=)
c.2532A>G (p.Lys844=)
c.2122A>G
c.2108A>G
c.2209A>G
c.2134A>G
c.*2452A>G (n.*2452A>G)
c.2145A>G (p.Lys715=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396105T>GCA405896684PRXc.2247A>C (p.Lys749Asn)
c.1830A>C (p.Lys610Asn)
c.2532A>C (p.Lys844Asn)
c.2122A>C
c.2108A>C
c.2209A>C
c.2134A>C
c.*2452A>C (n.*2452A>C)
c.2145A>C (p.Lys715Asn)
gnomAD v4
19g.40396105T=CA2335961465PRXc.2247A= (p.Lys749=)
c.1830A= (p.Lys610=)
c.2532A= (p.Lys844=)
c.2122A=
c.2108A=
c.2209A=
c.2134A=
c.*2452A= (n.*2452A=)
c.2145A= (p.Lys715=)
19g.40396106T>ACA405896685PRXc.2246A>T (p.Lys749Ile)
c.1829A>T (p.Lys610Ile)
c.2531A>T (p.Lys844Ile)
c.2121A>T
c.2107A>T
c.2208A>T
c.2133A>T
c.*2451A>T (n.*2451A>T)
c.2144A>T (p.Lys715Ile)
19g.40396106T>CCA405896686PRXc.2246A>G (p.Lys749Arg)
c.1829A>G (p.Lys610Arg)
c.2531A>G (p.Lys844Arg)
c.2121A>G
c.2107A>G
c.2208A>G
c.2133A>G
c.*2451A>G (n.*2451A>G)
c.2144A>G (p.Lys715Arg)
19g.40396106T>GCA9444101PRXc.2246A>C (p.Lys749Thr)
c.1829A>C (p.Lys610Thr)
c.2531A>C (p.Lys844Thr)
c.2121A>C
c.2107A>C
c.2208A>C
c.2133A>C
c.*2451A>C (n.*2451A>C)
c.2144A>C (p.Lys715Thr)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.40396106T=CA2335961466PRXc.2246A= (p.Lys749=)
c.1829A= (p.Lys610=)
c.2531A= (p.Lys844=)
c.2121A=
c.2107A=
c.2208A=
c.2133A=
c.*2451A= (n.*2451A=)
c.2144A= (p.Lys715=)
19g.40396107T>ACA405896687PRXc.2245A>T (p.Lys749Ter)
c.1828A>T (p.Lys610Ter)
c.2530A>T (p.Lys844Ter)
c.2120A>T
c.2106A>T
c.2207A>T
c.2132A>T
c.*2450A>T (n.*2450A>T)
c.2143A>T (p.Lys715Ter)
19g.40396107T>CCA9444102PRXc.2245A>G (p.Lys749Glu)
c.1828A>G (p.Lys610Glu)
c.2530A>G (p.Lys844Glu)
c.2120A>G
c.2106A>G
c.2207A>G
c.2132A>G
c.*2450A>G (n.*2450A>G)
c.2143A>G (p.Lys715Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396107T>GCA9444103PRXc.2245A>C (p.Lys749Gln)
c.1828A>C (p.Lys610Gln)
c.2530A>C (p.Lys844Gln)
c.2120A>C
c.2106A>C
c.2207A>C
c.2132A>C
c.*2450A>C (n.*2450A>C)
c.2143A>C (p.Lys715Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396107T=CA2335961467PRXc.2245A= (p.Lys749=)
c.1828A= (p.Lys610=)
c.2530A= (p.Lys844=)
c.2120A=
c.2106A=
c.2207A=
c.2132A=
c.*2450A= (n.*2450A=)
c.2143A= (p.Lys715=)
19g.40396108C>ACA507679300PRXc.2244G>T (p.Pro748=)
c.1827G>T (p.Pro609=)
c.2529G>T (p.Pro843=)
c.2119G>T
c.2105G>T
c.2206G>T
c.2131G>T
c.*2449G>T (n.*2449G>T)
c.2142G>T (p.Pro714=)
19g.40396108C=CA2335961468PRXc.2244G= (p.Pro748=)
c.1827G= (p.Pro609=)
c.2529G= (p.Pro843=)
c.2119G=
c.2105G=
c.2206G=
c.2131G=
c.*2449G= (n.*2449G=)
c.2142G= (p.Pro714=)
19g.40396108C>GCA507679301PRXc.2244G>C (p.Pro748=)
c.1827G>C (p.Pro609=)
c.2529G>C (p.Pro843=)
c.2119G>C
c.2105G>C
c.2206G>C
c.2131G>C
c.*2449G>C (n.*2449G>C)
c.2142G>C (p.Pro714=)
19g.40396108C>TCA9444104PRXc.2244G>A (p.Pro748=)
c.1827G>A (p.Pro609=)
c.2529G>A (p.Pro843=)
c.2119G>A
c.2105G>A
c.2206G>A
c.2131G>A
c.*2449G>A (n.*2449G>A)
c.2142G>A (p.Pro714=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396109G>ACA9444105PRXc.2243C>T (p.Pro748Leu)
c.1826C>T (p.Pro609Leu)
c.2528C>T (p.Pro843Leu)
c.2118C>T
c.2104C>T
c.2205C>T
c.2130C>T
c.*2448C>T (n.*2448C>T)
c.2141C>T (p.Pro714Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396109G>CCA405896688PRXc.2243C>G (p.Pro748Arg)
c.1826C>G (p.Pro609Arg)
c.2528C>G (p.Pro843Arg)
c.2118C>G
c.2104C>G
c.2205C>G
c.2130C>G
c.*2448C>G (n.*2448C>G)
c.2141C>G (p.Pro714Arg)
ClinVar dbSNP gnomAD v4
19g.40396109G=CA2335961469PRXc.2243C= (p.Pro748=)
c.1826C= (p.Pro609=)
c.2528C= (p.Pro843=)
c.2118C=
c.2104C=
c.2205C=
c.2130C=
c.*2448C= (n.*2448C=)
c.2141C= (p.Pro714=)
19g.40396109G>TCA405896689PRXc.2243C>A (p.Pro748Gln)
c.1826C>A (p.Pro609Gln)
c.2528C>A (p.Pro843Gln)
c.2118C>A
c.2104C>A
c.2205C>A
c.2130C>A
c.*2448C>A (n.*2448C>A)
c.2141C>A (p.Pro714Gln)
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.40396110G>ACA405896690PRXc.2242C>T (p.Pro748Ser)
c.1825C>T (p.Pro609Ser)
c.2527C>T (p.Pro843Ser)
c.2117C>T
c.2103C>T
c.2204C>T
c.2129C>T
c.*2447C>T (n.*2447C>T)
c.2140C>T (p.Pro714Ser)
COSMIC
19g.40396110G>CCA405896691PRXc.2242C>G (p.Pro748Ala)
c.1825C>G (p.Pro609Ala)
c.2527C>G (p.Pro843Ala)
c.2117C>G
c.2103C>G
c.2204C>G
c.2129C>G
c.*2447C>G (n.*2447C>G)
c.2140C>G (p.Pro714Ala)
19g.40396110G>TCA405896692PRXc.2242C>A (p.Pro748Thr)
c.1825C>A (p.Pro609Thr)
c.2527C>A (p.Pro843Thr)
c.2117C>A
c.2103C>A
c.2204C>A
c.2129C>A
c.*2447C>A (n.*2447C>A)
c.2140C>A (p.Pro714Thr)
19g.40396111C>ACA507679302PRXc.2241G>T (p.Leu747=)
c.1824G>T (p.Leu608=)
c.2526G>T (p.Leu842=)
c.2116G>T
c.2102G>T
c.2203G>T
c.2128G>T
c.*2446G>T (n.*2446G>T)
c.2139G>T (p.Leu713=)
19g.40396111C>GCA507679303PRXc.2241G>C (p.Leu747=)
c.1824G>C (p.Leu608=)
c.2526G>C (p.Leu842=)
c.2116G>C
c.2102G>C
c.2203G>C
c.2128G>C
c.*2446G>C (n.*2446G>C)
c.2139G>C (p.Leu713=)
gnomAD v3 gnomAD v4
19g.40396111C>TCA507679305PRXc.2241G>A (p.Leu747=)
c.1824G>A (p.Leu608=)
c.2526G>A (p.Leu842=)
c.2116G>A
c.2102G>A
c.2203G>A
c.2128G>A
c.*2446G>A (n.*2446G>A)
c.2139G>A (p.Leu713=)
ClinVar
19g.40396112A>CCA405896693PRXc.2240T>G (p.Leu747Arg)
c.1823T>G (p.Leu608Arg)
c.2525T>G (p.Leu842Arg)
c.2115T>G
c.2101T>G
c.2202T>G
c.2127T>G
c.*2445T>G (n.*2445T>G)
c.2138T>G (p.Leu713Arg)
19g.40396112A>GCA405896694PRXc.2240T>C (p.Leu747Pro)
c.1823T>C (p.Leu608Pro)
c.2525T>C (p.Leu842Pro)
c.2115T>C
c.2101T>C
c.2202T>C
c.2127T>C
c.*2445T>C (n.*2445T>C)
c.2138T>C (p.Leu713Pro)
19g.40396112A>TCA405896695PRXc.2240T>A (p.Leu747Gln)
c.1823T>A (p.Leu608Gln)
c.2525T>A (p.Leu842Gln)
c.2115T>A
c.2101T>A
c.2202T>A
c.2127T>A
c.*2445T>A (n.*2445T>A)
c.2138T>A (p.Leu713Gln)
19g.40396113G>ACA507679306PRXc.2239C>T (p.Leu747=)
c.1822C>T (p.Leu608=)
c.2524C>T (p.Leu842=)
c.2114C>T
c.2100C>T
c.2201C>T
c.2126C>T
c.*2444C>T (n.*2444C>T)
c.2137C>T (p.Leu713=)
19g.40396113G>CCA405896696PRXc.2239C>G (p.Leu747Val)
c.1822C>G (p.Leu608Val)
c.2524C>G (p.Leu842Val)
c.2114C>G
c.2100C>G
c.2201C>G
c.2126C>G
c.*2444C>G (n.*2444C>G)
c.2137C>G (p.Leu713Val)
19g.40396113G>TCA405896697PRXc.2239C>A (p.Leu747Met)
c.1822C>A (p.Leu608Met)
c.2524C>A (p.Leu842Met)
c.2114C>A
c.2100C>A
c.2201C>A
c.2126C>A
c.*2444C>A (n.*2444C>A)
c.2137C>A (p.Leu713Met)
19g.40396114C>ACA405896699PRXc.2238G>T (p.Gln746His)
c.1821G>T (p.Gln607His)
c.2523G>T (p.Gln841His)
c.2113G>T
c.2099G>T
c.2200G>T
c.2125G>T
c.*2443G>T (n.*2443G>T)
c.2136G>T (p.Gln712His)
19g.40396114C>GCA405896698PRXc.2238G>C (p.Gln746His)
c.1821G>C (p.Gln607His)
c.2523G>C (p.Gln841His)
c.2113G>C
c.2099G>C
c.2200G>C
c.2125G>C
c.*2443G>C (n.*2443G>C)
c.2136G>C (p.Gln712His)
dbSNP
19g.40396114C>TCA507679307PRXc.2238G>A (p.Gln746=)
c.1821G>A (p.Gln607=)
c.2523G>A (p.Gln841=)
c.2113G>A
c.2099G>A
c.2200G>A
c.2125G>A
c.*2443G>A (n.*2443G>A)
c.2136G>A (p.Gln712=)
19g.40396115T>ACA405896700PRXc.2237A>T (p.Gln746Leu)
c.1820A>T (p.Gln607Leu)
c.2522A>T (p.Gln841Leu)
c.2112A>T
c.2098A>T
c.2199A>T
c.2124A>T
c.*2442A>T (n.*2442A>T)
c.2135A>T (p.Gln712Leu)
19g.40396115T>CCA405896702PRXc.2237A>G (p.Gln746Arg)
c.1820A>G (p.Gln607Arg)
c.2522A>G (p.Gln841Arg)
c.2112A>G
c.2098A>G
c.2199A>G
c.2124A>G
c.*2442A>G (n.*2442A>G)
c.2135A>G (p.Gln712Arg)
19g.40396115T>GCA405896701PRXc.2237A>C (p.Gln746Pro)
c.1820A>C (p.Gln607Pro)
c.2522A>C (p.Gln841Pro)
c.2112A>C
c.2098A>C
c.2199A>C
c.2124A>C
c.*2442A>C (n.*2442A>C)
c.2135A>C (p.Gln712Pro)
gnomAD v4
19g.40396116G>ACA405896703PRXc.2236C>T (p.Gln746Ter)
c.1819C>T (p.Gln607Ter)
c.2521C>T (p.Gln841Ter)
c.2111C>T
c.2097C>T
c.2198C>T
c.2123C>T
c.*2441C>T (n.*2441C>T)
c.2134C>T (p.Gln712Ter)
19g.40396116G>CCA405896704PRXc.2236C>G (p.Gln746Glu)
c.1819C>G (p.Gln607Glu)
c.2521C>G (p.Gln841Glu)
c.2111C>G
c.2097C>G
c.2198C>G
c.2123C>G
c.*2441C>G (n.*2441C>G)
c.2134C>G (p.Gln712Glu)
19g.40396116G>TCA405896705PRXc.2236C>A (p.Gln746Lys)
c.1819C>A (p.Gln607Lys)
c.2521C>A (p.Gln841Lys)
c.2111C>A
c.2097C>A
c.2198C>A
c.2123C>A
c.*2441C>A (n.*2441C>A)
c.2134C>A (p.Gln712Lys)
19g.40396117C>ACA507679308PRXc.2235G>T (p.Val745=)
c.1818G>T (p.Val606=)
c.2520G>T (p.Val840=)
c.2110G>T
c.2096G>T
c.2197G>T
c.2122G>T
c.*2440G>T (n.*2440G>T)
c.2133G>T (p.Val711=)
19g.40396117C=CA2335961470PRXc.2235G= (p.Val745=)
c.1818G= (p.Val606=)
c.2520G= (p.Val840=)
c.2110G=
c.2096G=
c.2197G=
c.2122G=
c.*2440G= (n.*2440G=)
c.2133G= (p.Val711=)
19g.40396117C>GCA507679309PRXc.2235G>C (p.Val745=)
c.1818G>C (p.Val606=)
c.2520G>C (p.Val840=)
c.2110G>C
c.2096G>C
c.2197G>C
c.2122G>C
c.*2440G>C (n.*2440G>C)
c.2133G>C (p.Val711=)
19g.40396117C>TCA9444106PRXc.2235G>A (p.Val745=)
c.1818G>A (p.Val606=)
c.2520G>A (p.Val840=)
c.2110G>A
c.2096G>A
c.2197G>A
c.2122G>A
c.*2440G>A (n.*2440G>A)
c.2133G>A (p.Val711=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.40396118_40396119delCA2585127080PRXc.2234_2235del (p.Val745AlafsTer?)
c.1817_1818del (p.Val606AlafsTer?)
c.2519_2520del (p.Val840AlafsTer?)
c.2109_2110del
c.2095_2096del
c.2196_2197del
c.2121_2122del
c.*2439_*2440del (n.*2439_*2440del)
c.2132_2133del (p.Val711AlafsTer?)
gnomAD v4
19g.40396118A>CCA405896706PRXc.2234T>G (p.Val745Gly)
c.1817T>G (p.Val606Gly)
c.2519T>G (p.Val840Gly)
c.2109T>G
c.2095T>G
c.2196T>G
c.2121T>G
c.*2439T>G (n.*2439T>G)
c.2132T>G (p.Val711Gly)
19g.40396118A>GCA405896707PRXc.2234T>C (p.Val745Ala)
c.1817T>C (p.Val606Ala)
c.2519T>C (p.Val840Ala)
c.2109T>C
c.2095T>C
c.2196T>C
c.2121T>C
c.*2439T>C (n.*2439T>C)
c.2132T>C (p.Val711Ala)
19g.40396118A>TCA405896708PRXc.2234T>A (p.Val745Glu)
c.1817T>A (p.Val606Glu)
c.2519T>A (p.Val840Glu)
c.2109T>A
c.2095T>A
c.2196T>A
c.2121T>A
c.*2439T>A (n.*2439T>A)
c.2132T>A (p.Val711Glu)
19g.40396119C>ACA405896709PRXc.2233G>T (p.Val745Leu)
c.1816G>T (p.Val606Leu)
c.2518G>T (p.Val840Leu)
c.2108G>T
c.2094G>T
c.2195G>T
c.2120G>T
c.*2438G>T (n.*2438G>T)
c.2131G>T (p.Val711Leu)
19g.40396119C=CA2335961471PRXc.2233G= (p.Val745=)
c.1816G= (p.Val606=)
c.2518G= (p.Val840=)
c.2108G=
c.2094G=
c.2195G=
c.2120G=
c.*2438G= (n.*2438G=)
c.2131G= (p.Val711=)
19g.40396119C>GCA405896710PRXc.2233G>C (p.Val745Leu)
c.1816G>C (p.Val606Leu)
c.2518G>C (p.Val840Leu)
c.2108G>C
c.2094G>C
c.2195G>C
c.2120G>C
c.*2438G>C (n.*2438G>C)
c.2131G>C (p.Val711Leu)
19g.40396119C>TCA405896711PRXc.2233G>A (p.Val745Met)
c.1816G>A (p.Val606Met)
c.2518G>A (p.Val840Met)
c.2108G>A
c.2094G>A
c.2195G>A
c.2120G>A
c.*2438G>A (n.*2438G>A)
c.2131G>A (p.Val711Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40396120delCA2582157878PRXc.2233del (p.Val745CysfsTer30)
c.1816del (p.Val606CysfsTer30)
c.2518del (p.Val840CysfsTer30)
c.2108del
c.2094del
c.2195del
c.2120del
c.*2438del (n.*2438del)
c.2131del (p.Val711CysfsTer30)
gnomAD v3 gnomAD v4
19g.40396120C>ACA405896712PRXc.2232G>T (p.Glu744Asp)
c.1815G>T (p.Glu605Asp)
c.2517G>T (p.Glu839Asp)
c.2107G>T
c.2093G>T
c.2194G>T
c.2119G>T
c.*2437G>T (n.*2437G>T)
c.2130G>T (p.Glu710Asp)
19g.40396120C>GCA405896713PRXc.2232G>C (p.Glu744Asp)
c.1815G>C (p.Glu605Asp)
c.2517G>C (p.Glu839Asp)
c.2107G>C
c.2093G>C
c.2194G>C
c.2119G>C
c.*2437G>C (n.*2437G>C)
c.2130G>C (p.Glu710Asp)
19g.40396120C>TCA507679310PRXc.2232G>A (p.Glu744=)
c.1815G>A (p.Glu605=)
c.2517G>A (p.Glu839=)
c.2107G>A
c.2093G>A
c.2194G>A
c.2119G>A
c.*2437G>A (n.*2437G>A)
c.2130G>A (p.Glu710=)
gnomAD v3 gnomAD v4
19g.40396121T>ACA405896716PRXc.2231A>T (p.Glu744Val)
c.1814A>T (p.Glu605Val)
c.2516A>T (p.Glu839Val)
c.2106A>T
c.2092A>T
c.2193A>T
c.2118A>T
c.*2436A>T (n.*2436A>T)
c.2129A>T (p.Glu710Val)
19g.40396121T>CCA405896714PRXc.2231A>G (p.Glu744Gly)
c.1814A>G (p.Glu605Gly)
c.2516A>G (p.Glu839Gly)
c.2106A>G
c.2092A>G
c.2193A>G
c.2118A>G
c.*2436A>G (n.*2436A>G)
c.2129A>G (p.Glu710Gly)
dbSNP
19g.40396121T>GCA405896715PRXc.2231A>C (p.Glu744Ala)
c.1814A>C (p.Glu605Ala)
c.2516A>C (p.Glu839Ala)
c.2106A>C
c.2092A>C
c.2193A>C
c.2118A>C
c.*2436A>C (n.*2436A>C)
c.2129A>C (p.Glu710Ala)
19g.40396121T=CA2335961472PRXc.2231A= (p.Glu744=)
c.1814A= (p.Glu605=)
c.2516A= (p.Glu839=)
c.2106A=
c.2092A=
c.2193A=
c.2118A=
c.*2436A= (n.*2436A=)
c.2129A= (p.Glu710=)
19g.40396122C>ACA405896717PRXc.2230G>T (p.Glu744Ter)
c.1813G>T (p.Glu605Ter)
c.2515G>T (p.Glu839Ter)
c.2105G>T
c.2091G>T
c.2192G>T
c.2117G>T
c.*2435G>T (n.*2435G>T)
c.2128G>T (p.Glu710Ter)
19g.40396122C=CA2335961473PRXc.2230G= (p.Glu744=)
c.1813G= (p.Glu605=)
c.2515G= (p.Glu839=)
c.2105G=
c.2091G=
c.2192G=
c.2117G=
c.*2435G= (n.*2435G=)
c.2128G= (p.Glu710=)
19g.40396122C>GCA405896718PRXc.2230G>C (p.Glu744Gln)
c.1813G>C (p.Glu605Gln)
c.2515G>C (p.Glu839Gln)
c.2105G>C
c.2091G>C
c.2192G>C
c.2117G>C
c.*2435G>C (n.*2435G>C)
c.2128G>C (p.Glu710Gln)
19g.40396122C>TCA405896719PRXc.2230G>A (p.Glu744Lys)
c.1813G>A (p.Glu605Lys)
c.2515G>A (p.Glu839Lys)
c.2105G>A
c.2091G>A
c.2192G>A
c.2117G>A
c.*2435G>A (n.*2435G>A)
c.2128G>A (p.Glu710Lys)
ClinVar dbSNP gnomAD v4
19g.40396123G>ACA9444107PRXc.2229C>T (p.Pro743=)
c.1812C>T (p.Pro604=)
c.2514C>T (p.Pro838=)
c.2104C>T
c.2090C>T
c.2191C>T
c.2116C>T
c.*2434C>T (n.*2434C>T)
c.2127C>T (p.Pro709=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396123G>CCA507679314PRXc.2229C>G (p.Pro743=)
c.1812C>G (p.Pro604=)
c.2514C>G (p.Pro838=)
c.2104C>G
c.2090C>G
c.2191C>G
c.2116C>G
c.*2434C>G (n.*2434C>G)
c.2127C>G (p.Pro709=)
ClinVar gnomAD v3 gnomAD v4
19g.40396123G=CA2335961474PRXc.2229C= (p.Pro743=)
c.1812C= (p.Pro604=)
c.2514C= (p.Pro838=)
c.2104C=
c.2090C=
c.2191C=
c.2116C=
c.*2434C= (n.*2434C=)
c.2127C= (p.Pro709=)
19g.40396123G>TCA507679315PRXc.2229C>A (p.Pro743=)
c.1812C>A (p.Pro604=)
c.2514C>A (p.Pro838=)
c.2104C>A
c.2090C>A
c.2191C>A
c.2116C>A
c.*2434C>A (n.*2434C>A)
c.2127C>A (p.Pro709=)
dbSNP gnomAD v3 gnomAD v4
19g.40396126dupCA308419571PRXc.2229dup (p.Glu744ArgfsTer?)
c.1812dup (p.Glu605ArgfsTer?)
c.2514dup (p.Glu839ArgfsTer?)
c.2104dup
c.2090dup
c.2191dup
c.2116dup
c.*2434dup (n.*2434dup)
c.2127dup (p.Glu710ArgfsTer?)
dbSNP
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.40396124G>ACA405896720PRXc.2228C>T (p.Pro743Leu)
c.1811C>T (p.Pro604Leu)
c.2513C>T (p.Pro838Leu)
c.2103C>T
c.2089C>T
c.2190C>T
c.2115C>T
c.*2433C>T (n.*2433C>T)
c.2126C>T (p.Pro709Leu)
dbSNP gnomAD v2
19g.40396124G>CCA405896721PRXc.2228C>G (p.Pro743Arg)
c.1811C>G (p.Pro604Arg)
c.2513C>G (p.Pro838Arg)
c.2103C>G
c.2089C>G
c.2190C>G
c.2115C>G
c.*2433C>G (n.*2433C>G)
c.2126C>G (p.Pro709Arg)
19g.40396124G=CA2335961476PRXc.2228C= (p.Pro743=)
c.1811C= (p.Pro604=)
c.2513C= (p.Pro838=)
c.2103C=
c.2089C=
c.2190C=
c.2115C=
c.*2433C= (n.*2433C=)
c.2126C= (p.Pro709=)
19g.40396124G>TCA405896722PRXc.2228C>A (p.Pro743His)
c.1811C>A (p.Pro604His)
c.2513C>A (p.Pro838His)
c.2103C>A
c.2089C>A
c.2190C>A
c.2115C>A
c.*2433C>A (n.*2433C>A)
c.2126C>A (p.Pro709His)
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.40396125G>ACA405896723PRXc.2227C>T (p.Pro743Ser)
c.1810C>T (p.Pro604Ser)
c.2512C>T (p.Pro838Ser)
c.2102C>T
c.2088C>T
c.2189C>T
c.2114C>T
c.*2432C>T (n.*2432C>T)
c.2125C>T (p.Pro709Ser)
ClinVar gnomAD v4
19g.40396125G>CCA405896724PRXc.2227C>G (p.Pro743Ala)
c.1810C>G (p.Pro604Ala)
c.2512C>G (p.Pro838Ala)
c.2102C>G
c.2088C>G
c.2189C>G
c.2114C>G
c.*2432C>G (n.*2432C>G)
c.2125C>G (p.Pro709Ala)
19g.40396125G>TCA405896725PRXc.2227C>A (p.Pro743Thr)
c.1810C>A (p.Pro604Thr)
c.2512C>A (p.Pro838Thr)
c.2102C>A
c.2088C>A
c.2189C>A
c.2114C>A
c.*2432C>A (n.*2432C>A)
c.2125C>A (p.Pro709Thr)
19g.40396126G>ACA507679316PRXc.2226C>T (p.Leu742=)
c.1809C>T (p.Leu603=)
c.2511C>T (p.Leu837=)
c.2101C>T
c.2087C>T
c.2188C>T
c.2113C>T
c.*2431C>T (n.*2431C>T)
c.2124C>T (p.Leu708=)
dbSNP gnomAD v3 gnomAD v4
19g.40396126G>CCA507679318PRXc.2226C>G (p.Leu742=)
c.1809C>G (p.Leu603=)
c.2511C>G (p.Leu837=)
c.2101C>G
c.2087C>G
c.2188C>G
c.2113C>G
c.*2431C>G (n.*2431C>G)
c.2124C>G (p.Leu708=)
19g.40396126G>TCA507679319PRXc.2226C>A (p.Leu742=)
c.1809C>A (p.Leu603=)
c.2511C>A (p.Leu837=)
c.2101C>A
c.2087C>A
c.2188C>A
c.2113C>A
c.*2431C>A (n.*2431C>A)
c.2124C>A (p.Leu708=)
19g.40396127A=CA2335961477PRXc.2225T= (p.Leu742=)
c.1808T= (p.Leu603=)
c.2510T= (p.Leu837=)
c.2100T=
c.2086T=
c.2187T=
c.2112T=
c.*2430T= (n.*2430T=)
c.2123T= (p.Leu708=)
19g.40396127A>CCA405896727PRXc.2225T>G (p.Leu742Arg)
c.1808T>G (p.Leu603Arg)
c.2510T>G (p.Leu837Arg)
c.2100T>G
c.2086T>G
c.2187T>G
c.2112T>G
c.*2430T>G (n.*2430T>G)
c.2123T>G (p.Leu708Arg)
19g.40396127A>GCA308419580PRXc.2225T>C (p.Leu742Pro)
c.1808T>C (p.Leu603Pro)
c.2510T>C (p.Leu837Pro)
c.2100T>C
c.2086T>C
c.2187T>C
c.2112T>C
c.*2430T>C (n.*2430T>C)
c.2123T>C (p.Leu708Pro)
dbSNP
19g.40396127A>TCA405896726PRXc.2225T>A (p.Leu742His)
c.1808T>A (p.Leu603His)
c.2510T>A (p.Leu837His)
c.2100T>A
c.2086T>A
c.2187T>A
c.2112T>A
c.*2430T>A (n.*2430T>A)
c.2123T>A (p.Leu708His)
19g.40396127_40396130delinsAGGTCA2335961478PRXc.2222_2225delinsACCT (p.His741=)
c.1805_1808delinsACCT (p.His602=)
c.2507_2510delinsACCT (p.His836=)
c.2097_2100delinsACCT
c.2083_2086delinsACCT
c.2184_2187delinsACCT
c.2109_2112delinsACCT
c.*2427_*2430delinsACCT (n.*2427_*2430delinsACCT)
c.2120_2123delinsACCT (p.His707=)
19g.40396128G>ACA405896728PRXc.2224C>T (p.Leu742Phe)
c.1807C>T (p.Leu603Phe)
c.2509C>T (p.Leu837Phe)
c.2099C>T
c.2085C>T
c.2186C>T
c.2111C>T
c.*2429C>T (n.*2429C>T)
c.2122C>T (p.Leu708Phe)
dbSNP gnomAD v2 gnomAD v4
19g.40396128G>CCA405896729PRXc.2224C>G (p.Leu742Val)
c.1807C>G (p.Leu603Val)
c.2509C>G (p.Leu837Val)
c.2099C>G
c.2085C>G
c.2186C>G
c.2111C>G
c.*2429C>G (n.*2429C>G)
c.2122C>G (p.Leu708Val)
19g.40396128G=CA2335961480PRXc.2224C= (p.Leu742=)
c.1807C= (p.Leu603=)
c.2509C= (p.Leu837=)
c.2099C=
c.2085C=
c.2186C=
c.2111C=
c.*2429C= (n.*2429C=)
c.2122C= (p.Leu708=)
19g.40396128G>TCA405896730PRXc.2224C>A (p.Leu742Ile)
c.1807C>A (p.Leu603Ile)
c.2509C>A (p.Leu837Ile)
c.2099C>A
c.2085C>A
c.2186C>A
c.2111C>A
c.*2429C>A (n.*2429C>A)
c.2122C>A (p.Leu708Ile)
19g.40396129_40396131delCA2335961479PRXc.2222_2224del (p.His741del)
c.1805_1807del (p.His602del)
c.2507_2509del (p.His836del)
c.2097_2099del
c.2083_2085del
c.2184_2186del
c.2109_2111del
c.*2427_*2429del (n.*2427_*2429del)
c.2120_2122del (p.His707del)
dbSNP
19g.40396129G>ACA507679322PRXc.2223C>T (p.His741=)
c.1806C>T (p.His602=)
c.2508C>T (p.His836=)
c.2098C>T
c.2084C>T
c.2185C>T
c.2110C>T
c.*2428C>T (n.*2428C>T)
c.2121C>T (p.His707=)
dbSNP gnomAD v4
19g.40396129G>CCA405896731PRXc.2223C>G (p.His741Gln)
c.1806C>G (p.His602Gln)
c.2508C>G (p.His836Gln)
c.2098C>G
c.2084C>G
c.2185C>G
c.2110C>G
c.*2428C>G (n.*2428C>G)
c.2121C>G (p.His707Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40396129G=CA2335961481PRXc.2223C= (p.His741=)
c.1806C= (p.His602=)
c.2508C= (p.His836=)
c.2098C=
c.2084C=
c.2185C=
c.2110C=
c.*2428C= (n.*2428C=)
c.2121C= (p.His707=)
19g.40396129G>TCA405896732PRXc.2223C>A (p.His741Gln)
c.1806C>A (p.His602Gln)
c.2508C>A (p.His836Gln)
c.2098C>A
c.2084C>A
c.2185C>A
c.2110C>A
c.*2428C>A (n.*2428C>A)
c.2121C>A (p.His707Gln)
gnomAD v3 gnomAD v4
19g.40396130T>ACA405896735PRXc.2222A>T (p.His741Leu)
c.1805A>T (p.His602Leu)
c.2507A>T (p.His836Leu)
c.2097A>T
c.2083A>T
c.2184A>T
c.2109A>T
c.*2427A>T (n.*2427A>T)
c.2120A>T (p.His707Leu)
19g.40396130T>CCA405896734PRXc.2222A>G (p.His741Arg)
c.1805A>G (p.His602Arg)
c.2507A>G (p.His836Arg)
c.2097A>G
c.2083A>G
c.2184A>G
c.2109A>G
c.*2427A>G (n.*2427A>G)
c.2120A>G (p.His707Arg)
dbSNP gnomAD v3 gnomAD v4
19g.40396130T>GCA405896733PRXc.2222A>C (p.His741Pro)
c.1805A>C (p.His602Pro)
c.2507A>C (p.His836Pro)
c.2097A>C
c.2083A>C
c.2184A>C
c.2109A>C
c.*2427A>C (n.*2427A>C)
c.2120A>C (p.His707Pro)
dbSNP
19g.40396130T=CA2335961482PRXc.2222A= (p.His741=)
c.1805A= (p.His602=)
c.2507A= (p.His836=)
c.2097A=
c.2083A=
c.2184A=
c.2109A=
c.*2427A= (n.*2427A=)
c.2120A= (p.His707=)
19g.40396131G>ACA405896736PRXc.2221C>T (p.His741Tyr)
c.1804C>T (p.His602Tyr)
c.2506C>T (p.His836Tyr)
c.2096C>T
c.2082C>T
c.2183C>T
c.2108C>T
c.*2426C>T (n.*2426C>T)
c.2119C>T (p.His707Tyr)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.40396131G>CCA405896737PRXc.2221C>G (p.His741Asp)
c.1804C>G (p.His602Asp)
c.2506C>G (p.His836Asp)
c.2096C>G
c.2082C>G
c.2183C>G
c.2108C>G
c.*2426C>G (n.*2426C>G)
c.2119C>G (p.His707Asp)
19g.40396131G=CA2335961483PRXc.2221C= (p.His741=)
c.1804C= (p.His602=)
c.2506C= (p.His836=)
c.2096C=
c.2082C=
c.2183C=
c.2108C=
c.*2426C= (n.*2426C=)
c.2119C= (p.His707=)
19g.40396131G>TCA405896738PRXc.2221C>A (p.His741Asn)
c.1804C>A (p.His602Asn)
c.2506C>A (p.His836Asn)
c.2096C>A
c.2082C>A
c.2183C>A
c.2108C>A
c.*2426C>A (n.*2426C>A)
c.2119C>A (p.His707Asn)
dbSNP
19g.40396132C>ACA507679326PRXc.2220G>T (p.Val740=)
c.1803G>T (p.Val601=)
c.2505G>T (p.Val835=)
c.2095G>T
c.2081G>T
c.2182G>T
c.2107G>T
c.*2425G>T (n.*2425G>T)
c.2118G>T (p.Val706=)
gnomAD v3 gnomAD v4
19g.40396132C>GCA507679327PRXc.2220G>C (p.Val740=)
c.1803G>C (p.Val601=)
c.2505G>C (p.Val835=)
c.2095G>C
c.2081G>C
c.2182G>C
c.2107G>C
c.*2425G>C (n.*2425G>C)
c.2118G>C (p.Val706=)
19g.40396132C>TCA507679328PRXc.2220G>A (p.Val740=)
c.1803G>A (p.Val601=)
c.2505G>A (p.Val835=)
c.2095G>A
c.2081G>A
c.2182G>A
c.2107G>A
c.*2425G>A (n.*2425G>A)
c.2118G>A (p.Val706=)
19g.40396133A>CCA405896739PRXc.2219T>G (p.Val740Gly)
c.1802T>G (p.Val601Gly)
c.2504T>G (p.Val835Gly)
c.2094T>G
c.2080T>G
c.2181T>G
c.2106T>G
c.*2424T>G (n.*2424T>G)
c.2117T>G (p.Val706Gly)
gnomAD v4
19g.40396133A>GCA405896740PRXc.2219T>C (p.Val740Ala)
c.1802T>C (p.Val601Ala)
c.2504T>C (p.Val835Ala)
c.2094T>C
c.2080T>C
c.2181T>C
c.2106T>C
c.*2424T>C (n.*2424T>C)
c.2117T>C (p.Val706Ala)
19g.40396133A>TCA405896741PRXc.2219T>A (p.Val740Glu)
c.1802T>A (p.Val601Glu)
c.2504T>A (p.Val835Glu)
c.2094T>A
c.2080T>A
c.2181T>A
c.2106T>A
c.*2424T>A (n.*2424T>A)
c.2117T>A (p.Val706Glu)
19g.40396134C>ACA405896742PRXc.2218G>T (p.Val740Leu)
c.1801G>T (p.Val601Leu)
c.2503G>T (p.Val835Leu)
c.2093G>T
c.2079G>T
c.2180G>T
c.2105G>T
c.*2423G>T (n.*2423G>T)
c.2116G>T (p.Val706Leu)
COSMIC
19g.40396134C=CA2335961484PRXc.2218G= (p.Val740=)
c.1801G= (p.Val601=)
c.2503G= (p.Val835=)
c.2093G=
c.2079G=
c.2180G=
c.2105G=
c.*2423G= (n.*2423G=)
c.2116G= (p.Val706=)
19g.40396134C>GCA405896744PRXc.2218G>C (p.Val740Leu)
c.1801G>C (p.Val601Leu)
c.2503G>C (p.Val835Leu)
c.2093G>C
c.2079G>C
c.2180G>C
c.2105G>C
c.*2423G>C (n.*2423G>C)
c.2116G>C (p.Val706Leu)
19g.40396134C>TCA405896743PRXc.2218G>A (p.Val740Met)
c.1801G>A (p.Val601Met)
c.2503G>A (p.Val835Met)
c.2093G>A
c.2079G>A
c.2180G>A
c.2105G>A
c.*2423G>A (n.*2423G>A)
c.2116G>A (p.Val706Met)
dbSNP gnomAD v4
19g.40396135A=CA2335961485PRXc.2217T= (p.Asp739=)
c.1800T= (p.Asp600=)
c.2502T= (p.Asp834=)
c.2092T=
c.2078T=
c.2179T=
c.2104T=
c.*2422T= (n.*2422T=)
c.2115T= (p.Asp705=)
19g.40396135A>CCA405896745PRXc.2217T>G (p.Asp739Glu)
c.1800T>G (p.Asp600Glu)
c.2502T>G (p.Asp834Glu)
c.2092T>G
c.2078T>G
c.2179T>G
c.2104T>G
c.*2422T>G (n.*2422T>G)
c.2115T>G (p.Asp705Glu)
dbSNP gnomAD v3 gnomAD v4
19g.40396135A>GCA9444108PRXc.2217T>C (p.Asp739=)
c.1800T>C (p.Asp600=)
c.2502T>C (p.Asp834=)
c.2092T>C
c.2078T>C
c.2179T>C
c.2104T>C
c.*2422T>C (n.*2422T>C)
c.2115T>C (p.Asp705=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.40396135A>TCA405896746PRXc.2217T>A (p.Asp739Glu)
c.1800T>A (p.Asp600Glu)
c.2502T>A (p.Asp834Glu)
c.2092T>A
c.2078T>A
c.2179T>A
c.2104T>A
c.*2422T>A (n.*2422T>A)
c.2115T>A (p.Asp705Glu)
19g.40396136T>ACA405896747PRXc.2216A>T (p.Asp739Val)
c.1799A>T (p.Asp600Val)
c.2501A>T (p.Asp834Val)
c.2091A>T
c.2077A>T
c.2178A>T
c.2103A>T
c.*2421A>T (n.*2421A>T)
c.2114A>T (p.Asp705Val)
19g.40396136T>CCA405896748PRXc.2216A>G (p.Asp739Gly)
c.1799A>G (p.Asp600Gly)
c.2501A>G (p.Asp834Gly)
c.2091A>G
c.2077A>G
c.2178A>G
c.2103A>G
c.*2421A>G (n.*2421A>G)
c.2114A>G (p.Asp705Gly)
19g.40396136T>GCA405896749PRXc.2216A>C (p.Asp739Ala)
c.1799A>C (p.Asp600Ala)
c.2501A>C (p.Asp834Ala)
c.2091A>C
c.2077A>C
c.2178A>C
c.2103A>C
c.*2421A>C (n.*2421A>C)
c.2114A>C (p.Asp705Ala)
19g.40396137C>ACA405896750PRXc.2215G>T (p.Asp739Tyr)
c.1798G>T (p.Asp600Tyr)
c.2500G>T (p.Asp834Tyr)
c.2090G>T
c.2076G>T
c.2177G>T
c.2102G>T
c.*2420G>T (n.*2420G>T)
c.2113G>T (p.Asp705Tyr)
dbSNP gnomAD v2 gnomAD v4
19g.40396137C=CA2335961486PRXc.2215G= (p.Asp739=)
c.1798G= (p.Asp600=)
c.2500G= (p.Asp834=)
c.2090G=
c.2076G=
c.2177G=
c.2102G=
c.*2420G= (n.*2420G=)
c.2113G= (p.Asp705=)
19g.40396137C>GCA9444110PRXc.2215G>C (p.Asp739His)
c.1798G>C (p.Asp600His)
c.2500G>C (p.Asp834His)
c.2090G>C
c.2076G>C
c.2177G>C
c.2102G>C
c.*2420G>C (n.*2420G>C)
c.2113G>C (p.Asp705His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396137C>TCA9444109PRXc.2215G>A (p.Asp739Asn)
c.1798G>A (p.Asp600Asn)
c.2500G>A (p.Asp834Asn)
c.2090G>A
c.2076G>A
c.2177G>A
c.2102G>A
c.*2420G>A (n.*2420G>A)
c.2113G>A (p.Asp705Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396138G>ACA9444111PRXc.2214C>T (p.Pro738=)
c.1797C>T (p.Pro599=)
c.2499C>T (p.Pro833=)
c.2089C>T
c.2075C>T
c.2176C>T
c.2101C>T
c.*2419C>T (n.*2419C>T)
c.2112C>T (p.Pro704=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396138G>CCA507679331PRXc.2214C>G (p.Pro738=)
c.1797C>G (p.Pro599=)
c.2499C>G (p.Pro833=)
c.2089C>G
c.2075C>G
c.2176C>G
c.2101C>G
c.*2419C>G (n.*2419C>G)
c.2112C>G (p.Pro704=)
dbSNP gnomAD v3 gnomAD v4
19g.40396138G=CA2335961487PRXc.2214C= (p.Pro738=)
c.1797C= (p.Pro599=)
c.2499C= (p.Pro833=)
c.2089C=
c.2075C=
c.2176C=
c.2101C=
c.*2419C= (n.*2419C=)
c.2112C= (p.Pro704=)
19g.40396138G>TCA507679330PRXc.2214C>A (p.Pro738=)
c.1797C>A (p.Pro599=)
c.2499C>A (p.Pro833=)
c.2089C>A
c.2075C>A
c.2176C>A
c.2101C>A
c.*2419C>A (n.*2419C>A)
c.2112C>A (p.Pro704=)
gnomAD v3 gnomAD v4
19g.40396140dupCA308419600PRXc.2214dup (p.Asp739ArgfsTer?)
c.1797dup (p.Asp600ArgfsTer?)
c.2499dup (p.Asp834ArgfsTer?)
c.2089dup
c.2075dup
c.2176dup
c.2101dup
c.*2419dup (n.*2419dup)
c.2112dup (p.Asp705ArgfsTer?)
dbSNP
19g.40396139G>ACA405896752PRXc.2213C>T (p.Pro738Leu)
c.1796C>T (p.Pro599Leu)
c.2498C>T (p.Pro833Leu)
c.2088C>T
c.2074C>T
c.2175C>T
c.2100C>T
c.*2418C>T (n.*2418C>T)
c.2111C>T (p.Pro704Leu)
19g.40396139G>CCA405896753PRXc.2213C>G (p.Pro738Arg)
c.1796C>G (p.Pro599Arg)
c.2498C>G (p.Pro833Arg)
c.2088C>G
c.2074C>G
c.2175C>G
c.2100C>G
c.*2418C>G (n.*2418C>G)
c.2111C>G (p.Pro704Arg)
19g.40396139G>TCA405896751PRXc.2213C>A (p.Pro738His)
c.1796C>A (p.Pro599His)
c.2498C>A (p.Pro833His)
c.2088C>A
c.2074C>A
c.2175C>A
c.2100C>A
c.*2418C>A (n.*2418C>A)
c.2111C>A (p.Pro704His)
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.40396140G>ACA405896754PRXc.2212C>T (p.Pro738Ser)
c.1795C>T (p.Pro599Ser)
c.2497C>T (p.Pro833Ser)
c.2087C>T
c.2073C>T
c.2174C>T
c.2099C>T
c.*2417C>T (n.*2417C>T)
c.2110C>T (p.Pro704Ser)
19g.40396140G>CCA405896755PRXc.2212C>G (p.Pro738Ala)
c.1795C>G (p.Pro599Ala)
c.2497C>G (p.Pro833Ala)
c.2087C>G
c.2073C>G
c.2174C>G
c.2099C>G
c.*2417C>G (n.*2417C>G)
c.2110C>G (p.Pro704Ala)
gnomAD v4
19g.40396140G>TCA405896756PRXc.2212C>A (p.Pro738Thr)
c.1795C>A (p.Pro599Thr)
c.2497C>A (p.Pro833Thr)
c.2087C>A
c.2073C>A
c.2174C>A
c.2099C>A
c.*2417C>A (n.*2417C>A)
c.2110C>A (p.Pro704Thr)
19g.40396141C>ACA507679333PRXc.2211G>T (p.Val737=)
c.1794G>T (p.Val598=)
c.2496G>T (p.Val832=)
c.2086G>T
c.2072G>T
c.2173G>T
c.2098G>T
c.*2416G>T (n.*2416G>T)
c.2109G>T (p.Val703=)
19g.40396141C=CA2335961488PRXc.2211G= (p.Val737=)
c.1794G= (p.Val598=)
c.2496G= (p.Val832=)
c.2086G=
c.2072G=
c.2173G=
c.2098G=
c.*2416G= (n.*2416G=)
c.2109G= (p.Val703=)
19g.40396141C>GCA507679334PRXc.2211G>C (p.Val737=)
c.1794G>C (p.Val598=)
c.2496G>C (p.Val832=)
c.2086G>C
c.2072G>C
c.2173G>C
c.2098G>C
c.*2416G>C (n.*2416G>C)
c.2109G>C (p.Val703=)
19g.40396141C>TCA507679335PRXc.2211G>A (p.Val737=)
c.1794G>A (p.Val598=)
c.2496G>A (p.Val832=)
c.2086G>A
c.2072G>A
c.2173G>A
c.2098G>A
c.*2416G>A (n.*2416G>A)
c.2109G>A (p.Val703=)
dbSNP gnomAD v2
19g.40396142A>CCA405896757PRXc.2210T>G (p.Val737Gly)
c.1793T>G (p.Val598Gly)
c.2495T>G (p.Val832Gly)
c.2085T>G
c.2071T>G
c.2172T>G
c.2097T>G
c.*2415T>G (n.*2415T>G)
c.2108T>G (p.Val703Gly)
19g.40396142A>GCA405896758PRXc.2210T>C (p.Val737Ala)
c.1793T>C (p.Val598Ala)
c.2495T>C (p.Val832Ala)
c.2085T>C
c.2071T>C
c.2172T>C
c.2097T>C
c.*2415T>C (n.*2415T>C)
c.2108T>C (p.Val703Ala)
19g.40396142A>TCA405896759PRXc.2210T>A (p.Val737Glu)
c.1793T>A (p.Val598Glu)
c.2495T>A (p.Val832Glu)
c.2085T>A
c.2071T>A
c.2172T>A
c.2097T>A
c.*2415T>A (n.*2415T>A)
c.2108T>A (p.Val703Glu)
19g.40396143C>ACA405896762PRXc.2209G>T (p.Val737Leu)
c.1792G>T (p.Val598Leu)
c.2494G>T (p.Val832Leu)
c.2084G>T
c.2070G>T
c.2171G>T
c.2096G>T
c.*2414G>T (n.*2414G>T)
c.2107G>T (p.Val703Leu)
19g.40396143C=CA2335961489PRXc.2209G= (p.Val737=)
c.1792G= (p.Val598=)
c.2494G= (p.Val832=)
c.2084G=
c.2070G=
c.2171G=
c.2096G=
c.*2414G= (n.*2414G=)
c.2107G= (p.Val703=)
19g.40396143C>GCA405896760PRXc.2209G>C (p.Val737Leu)
c.1792G>C (p.Val598Leu)
c.2494G>C (p.Val832Leu)
c.2084G>C
c.2070G>C
c.2171G>C
c.2096G>C
c.*2414G>C (n.*2414G>C)
c.2107G>C (p.Val703Leu)
19g.40396143C>TCA405896761PRXc.2209G>A (p.Val737Met)
c.1792G>A (p.Val598Met)
c.2494G>A (p.Val832Met)
c.2084G>A
c.2070G>A
c.2171G>A
c.2096G>A
c.*2414G>A (n.*2414G>A)
c.2107G>A (p.Val703Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40396144A=CA2335961490PRXc.2208T= (p.Ala736=)
c.1791T= (p.Ala597=)
c.2493T= (p.Ala831=)
c.2083T=
c.2069T=
c.2170T=
c.2095T=
c.*2413T= (n.*2413T=)
c.2106T= (p.Ala702=)
19g.40396144A>CCA507679338PRXc.2208T>G (p.Ala736=)
c.1791T>G (p.Ala597=)
c.2493T>G (p.Ala831=)
c.2083T>G
c.2069T>G
c.2170T>G
c.2095T>G
c.*2413T>G (n.*2413T>G)
c.2106T>G (p.Ala702=)
19g.40396144A>GCA507679340PRXc.2208T>C (p.Ala736=)
c.1791T>C (p.Ala597=)
c.2493T>C (p.Ala831=)
c.2083T>C
c.2069T>C
c.2170T>C
c.2095T>C
c.*2413T>C (n.*2413T>C)
c.2106T>C (p.Ala702=)
dbSNP gnomAD v3 gnomAD v4
19g.40396144A>TCA507679342PRXc.2208T>A (p.Ala736=)
c.1791T>A (p.Ala597=)
c.2493T>A (p.Ala831=)
c.2083T>A
c.2069T>A
c.2170T>A
c.2095T>A
c.*2413T>A (n.*2413T>A)
c.2106T>A (p.Ala702=)
19g.40396145G>ACA405896763PRXc.2207C>T (p.Ala736Val)
c.1790C>T (p.Ala597Val)
c.2492C>T (p.Ala831Val)
c.2082C>T
c.2068C>T
c.2169C>T
c.2094C>T
c.*2412C>T (n.*2412C>T)
c.2105C>T (p.Ala702Val)
19g.40396145G>CCA405896764PRXc.2207C>G (p.Ala736Gly)
c.1790C>G (p.Ala597Gly)
c.2492C>G (p.Ala831Gly)
c.2082C>G
c.2068C>G
c.2169C>G
c.2094C>G
c.*2412C>G (n.*2412C>G)
c.2105C>G (p.Ala702Gly)
19g.40396145G>TCA405896765PRXc.2207C>A (p.Ala736Asp)
c.1790C>A (p.Ala597Asp)
c.2492C>A (p.Ala831Asp)
c.2082C>A
c.2068C>A
c.2169C>A
c.2094C>A
c.*2412C>A (n.*2412C>A)
c.2105C>A (p.Ala702Asp)
19g.40396146C>ACA405896766PRXc.2206G>T (p.Ala736Ser)
c.1789G>T (p.Ala597Ser)
c.2491G>T (p.Ala831Ser)
c.2081G>T
c.2067G>T
c.2168G>T
c.2093G>T
c.*2411G>T (n.*2411G>T)
c.2104G>T (p.Ala702Ser)
dbSNP gnomAD v2 gnomAD v4
19g.40396146C=CA2335961491PRXc.2206G= (p.Ala736=)
c.1789G= (p.Ala597=)
c.2491G= (p.Ala831=)
c.2081G=
c.2067G=
c.2168G=
c.2093G=
c.*2411G= (n.*2411G=)
c.2104G= (p.Ala702=)
19g.40396146C>GCA405896767PRXc.2206G>C (p.Ala736Pro)
c.1789G>C (p.Ala597Pro)
c.2491G>C (p.Ala831Pro)
c.2081G>C
c.2067G>C
c.2168G>C
c.2093G>C
c.*2411G>C (n.*2411G>C)
c.2104G>C (p.Ala702Pro)
19g.40396146C>TCA405896768PRXc.2206G>A (p.Ala736Thr)
c.1789G>A (p.Ala597Thr)
c.2491G>A (p.Ala831Thr)
c.2081G>A
c.2067G>A
c.2168G>A
c.2093G>A
c.*2411G>A (n.*2411G>A)
c.2104G>A (p.Ala702Thr)
19g.40396147C>ACA405896769PRXc.2205G>T (p.Met735Ile)
c.1788G>T (p.Met596Ile)
c.2490G>T (p.Met830Ile)
c.2080G>T
c.2066G>T
c.2167G>T
c.2092G>T
c.*2410G>T (n.*2410G>T)
c.2103G>T (p.Met701Ile)
19g.40396147C>GCA405896771PRXc.2205G>C (p.Met735Ile)
c.1788G>C (p.Met596Ile)
c.2490G>C (p.Met830Ile)
c.2080G>C
c.2066G>C
c.2167G>C
c.2092G>C
c.*2410G>C (n.*2410G>C)
c.2103G>C (p.Met701Ile)
19g.40396147C>TCA405896770PRXc.2205G>A (p.Met735Ile)
c.1788G>A (p.Met596Ile)
c.2490G>A (p.Met830Ile)
c.2080G>A
c.2066G>A
c.2167G>A
c.2092G>A
c.*2410G>A (n.*2410G>A)
c.2103G>A (p.Met701Ile)
19g.40396148A>CCA405896772PRXc.2204T>G (p.Met735Arg)
c.1787T>G (p.Met596Arg)
c.2489T>G (p.Met830Arg)
c.2079T>G
c.2065T>G
c.2166T>G
c.2091T>G
c.*2409T>G (n.*2409T>G)
c.2102T>G (p.Met701Arg)
19g.40396148A>GCA405896773PRXc.2204T>C (p.Met735Thr)
c.1787T>C (p.Met596Thr)
c.2489T>C (p.Met830Thr)
c.2079T>C
c.2065T>C
c.2166T>C
c.2091T>C
c.*2409T>C (n.*2409T>C)
c.2102T>C (p.Met701Thr)
19g.40396148A>TCA405896774PRXc.2204T>A (p.Met735Lys)
c.1787T>A (p.Met596Lys)
c.2489T>A (p.Met830Lys)
c.2079T>A
c.2065T>A
c.2166T>A
c.2091T>A
c.*2409T>A (n.*2409T>A)
c.2102T>A (p.Met701Lys)
19g.40396149T>ACA405896775PRXc.2203A>T (p.Met735Leu)
c.1786A>T (p.Met596Leu)
c.2488A>T (p.Met830Leu)
c.2078A>T
c.2064A>T
c.2165A>T
c.2090A>T
c.*2408A>T (n.*2408A>T)
c.2101A>T (p.Met701Leu)
19g.40396149T>CCA405896776PRXc.2203A>G (p.Met735Val)
c.1786A>G (p.Met596Val)
c.2488A>G (p.Met830Val)
c.2078A>G
c.2064A>G
c.2165A>G
c.2090A>G
c.*2408A>G (n.*2408A>G)
c.2101A>G (p.Met701Val)
19g.40396149T>GCA405896777PRXc.2203A>C (p.Met735Leu)
c.1786A>C (p.Met596Leu)
c.2488A>C (p.Met830Leu)
c.2078A>C
c.2064A>C
c.2165A>C
c.2090A>C
c.*2408A>C (n.*2408A>C)
c.2101A>C (p.Met701Leu)
19g.40396150C>ACA405896778PRXc.2202G>T (p.Glu734Asp)
c.1785G>T (p.Glu595Asp)
c.2487G>T (p.Glu829Asp)
c.2077G>T
c.2063G>T
c.2164G>T
c.2089G>T
c.*2407G>T (n.*2407G>T)
c.2100G>T (p.Glu700Asp)
19g.40396150C=CA2335961492PRXc.2202G= (p.Glu734=)
c.1785G= (p.Glu595=)
c.2487G= (p.Glu829=)
c.2077G=
c.2063G=
c.2164G=
c.2089G=
c.*2407G= (n.*2407G=)
c.2100G= (p.Glu700=)
19g.40396150C>GCA405896779PRXc.2202G>C (p.Glu734Asp)
c.1785G>C (p.Glu595Asp)
c.2487G>C (p.Glu829Asp)
c.2077G>C
c.2063G>C
c.2164G>C
c.2089G>C
c.*2407G>C (n.*2407G>C)
c.2100G>C (p.Glu700Asp)
gnomAD v4
19g.40396150C>TCA9444112PRXc.2202G>A (p.Glu734=)
c.1785G>A (p.Glu595=)
c.2487G>A (p.Glu829=)
c.2077G>A
c.2063G>A
c.2164G>A
c.2089G>A
c.*2407G>A (n.*2407G>A)
c.2100G>A (p.Glu700=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396151T>ACA405896780PRXc.2201A>T (p.Glu734Val)
c.1784A>T (p.Glu595Val)
c.2486A>T (p.Glu829Val)
c.2076A>T
c.2062A>T
c.2163A>T
c.2088A>T
c.*2406A>T (n.*2406A>T)
c.2099A>T (p.Glu700Val)
19g.40396151T>CCA405896781PRXc.2201A>G (p.Glu734Gly)
c.1784A>G (p.Glu595Gly)
c.2486A>G (p.Glu829Gly)
c.2076A>G
c.2062A>G
c.2163A>G
c.2088A>G
c.*2406A>G (n.*2406A>G)
c.2099A>G (p.Glu700Gly)
19g.40396151T>GCA405896782PRXc.2201A>C (p.Glu734Ala)
c.1784A>C (p.Glu595Ala)
c.2486A>C (p.Glu829Ala)
c.2076A>C
c.2062A>C
c.2163A>C
c.2088A>C
c.*2406A>C (n.*2406A>C)
c.2099A>C (p.Glu700Ala)
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.40396152C>ACA405896785PRXc.2200G>T (p.Glu734Ter)
c.1783G>T (p.Glu595Ter)
c.2485G>T (p.Glu829Ter)
c.2075G>T
c.2061G>T
c.2162G>T
c.2087G>T
c.*2405G>T (n.*2405G>T)
c.2098G>T (p.Glu700Ter)
19g.40396152C>GCA405896783PRXc.2200G>C (p.Glu734Gln)
c.1783G>C (p.Glu595Gln)
c.2485G>C (p.Glu829Gln)
c.2075G>C
c.2061G>C
c.2162G>C
c.2087G>C
c.*2405G>C (n.*2405G>C)
c.2098G>C (p.Glu700Gln)
19g.40396152C>TCA405896784PRXc.2200G>A (p.Glu734Lys)
c.1783G>A (p.Glu595Lys)
c.2485G>A (p.Glu829Lys)
c.2075G>A
c.2061G>A
c.2162G>A
c.2087G>A
c.*2405G>A (n.*2405G>A)
c.2098G>A (p.Glu700Lys)
gnomAD v4
19g.40396153delCA2585127081PRXc.2199del (p.Glu734ArgfsTer?)
c.1782del (p.Glu595ArgfsTer?)
c.2484del (p.Glu829ArgfsTer?)
c.2074del
c.2060del
c.2161del
c.2086del
c.*2404del (n.*2404del)
c.2097del (p.Glu700ArgfsTer?)
gnomAD v4
19g.40396153A=CA2335961493PRXc.2199T= (p.Pro733=)
c.1782T= (p.Pro594=)
c.2484T= (p.Pro828=)
c.2074T=
c.2060T=
c.2161T=
c.2086T=
c.*2404T= (n.*2404T=)
c.2097T= (p.Pro699=)
19g.40396153A>CCA507679350PRXc.2199T>G (p.Pro733=)
c.1782T>G (p.Pro594=)
c.2484T>G (p.Pro828=)
c.2074T>G
c.2060T>G
c.2161T>G
c.2086T>G
c.*2404T>G (n.*2404T>G)
c.2097T>G (p.Pro699=)
19g.40396153A>GCA507679352PRXc.2199T>C (p.Pro733=)
c.1782T>C (p.Pro594=)
c.2484T>C (p.Pro828=)
c.2074T>C
c.2060T>C
c.2161T>C
c.2086T>C
c.*2404T>C (n.*2404T>C)
c.2097T>C (p.Pro699=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.40396153A>TCA507679354PRXc.2199T>A (p.Pro733=)
c.1782T>A (p.Pro594=)
c.2484T>A (p.Pro828=)
c.2074T>A
c.2060T>A
c.2161T>A
c.2086T>A
c.*2404T>A (n.*2404T>A)
c.2097T>A (p.Pro699=)
dbSNP gnomAD v3 gnomAD v4
19g.40396154G>ACA405896786PRXc.2198C>T (p.Pro733Leu)
c.1781C>T (p.Pro594Leu)
c.2483C>T (p.Pro828Leu)
c.2073C>T
c.2059C>T
c.2160C>T
c.2085C>T
c.*2403C>T (n.*2403C>T)
c.2096C>T (p.Pro699Leu)
gnomAD v4
19g.40396154G>CCA405896787PRXc.2198C>G (p.Pro733Arg)
c.1781C>G (p.Pro594Arg)
c.2483C>G (p.Pro828Arg)
c.2073C>G
c.2059C>G
c.2160C>G
c.2085C>G
c.*2403C>G (n.*2403C>G)
c.2096C>G (p.Pro699Arg)
19g.40396154G>TCA405896788PRXc.2198C>A (p.Pro733His)
c.1781C>A (p.Pro594His)
c.2483C>A (p.Pro828His)
c.2073C>A
c.2059C>A
c.2160C>A
c.2085C>A
c.*2403C>A (n.*2403C>A)
c.2096C>A (p.Pro699His)
19g.40396155G>ACA405896789PRXc.2197C>T (p.Pro733Ser)
c.1780C>T (p.Pro594Ser)
c.2482C>T (p.Pro828Ser)
c.2072C>T
c.2058C>T
c.2159C>T
c.2084C>T
c.*2402C>T (n.*2402C>T)
c.2095C>T (p.Pro699Ser)
dbSNP gnomAD v3 gnomAD v4
19g.40396155G>CCA405896790PRXc.2197C>G (p.Pro733Ala)
c.1780C>G (p.Pro594Ala)
c.2482C>G (p.Pro828Ala)
c.2072C>G
c.2058C>G
c.2159C>G
c.2084C>G
c.*2402C>G (n.*2402C>G)
c.2095C>G (p.Pro699Ala)
19g.40396155G=CA2335961494PRXc.2197C= (p.Pro733=)
c.1780C= (p.Pro594=)
c.2482C= (p.Pro828=)
c.2072C=
c.2058C=
c.2159C=
c.2084C=
c.*2402C= (n.*2402C=)
c.2095C= (p.Pro699=)
19g.40396155G>TCA405896791PRXc.2197C>A (p.Pro733Thr)
c.1780C>A (p.Pro594Thr)
c.2482C>A (p.Pro828Thr)
c.2072C>A
c.2058C>A
c.2159C>A
c.2084C>A
c.*2402C>A (n.*2402C>A)
c.2095C>A (p.Pro699Thr)
gnomAD v4
19g.40396156C>ACA507679355PRXc.2196G>T (p.Val732=)
c.1779G>T (p.Val593=)
c.2481G>T (p.Val827=)
c.2071G>T
c.2057G>T
c.2158G>T
c.2083G>T
c.*2401G>T (n.*2401G>T)
c.2094G>T (p.Val698=)
19g.40396156C=CA2335961495PRXc.2196G= (p.Val732=)
c.1779G= (p.Val593=)
c.2481G= (p.Val827=)
c.2071G=
c.2057G=
c.2158G=
c.2083G=
c.*2401G= (n.*2401G=)
c.2094G= (p.Val698=)
19g.40396156C>GCA507679356PRXc.2196G>C (p.Val732=)
c.1779G>C (p.Val593=)
c.2481G>C (p.Val827=)
c.2071G>C
c.2057G>C
c.2158G>C
c.2083G>C
c.*2401G>C (n.*2401G>C)
c.2094G>C (p.Val698=)
19g.40396156C>TCA507679357PRXc.2196G>A (p.Val732=)
c.1779G>A (p.Val593=)
c.2481G>A (p.Val827=)
c.2071G>A
c.2057G>A
c.2158G>A
c.2083G>A
c.*2401G>A (n.*2401G>A)
c.2094G>A (p.Val698=)
dbSNP gnomAD v2 gnomAD v4
19g.40396157A=CA2335961496PRXc.2195T= (p.Val732=)
c.1778T= (p.Val593=)
c.2480T= (p.Val827=)
c.2070T=
c.2056T=
c.2157T=
c.2082T=
c.*2400T= (n.*2400T=)
c.2093T= (p.Val698=)
19g.40396157A>CCA405896794PRXc.2195T>G (p.Val732Gly)
c.1778T>G (p.Val593Gly)
c.2480T>G (p.Val827Gly)
c.2070T>G
c.2056T>G
c.2157T>G
c.2082T>G
c.*2400T>G (n.*2400T>G)
c.2093T>G (p.Val698Gly)
19g.40396157A>GCA405896792PRXc.2195T>C (p.Val732Ala)
c.1778T>C (p.Val593Ala)
c.2480T>C (p.Val827Ala)
c.2070T>C
c.2056T>C
c.2157T>C
c.2082T>C
c.*2400T>C (n.*2400T>C)
c.2093T>C (p.Val698Ala)
dbSNP
19g.40396157A>TCA405896793PRXc.2195T>A (p.Val732Glu)
c.1778T>A (p.Val593Glu)
c.2480T>A (p.Val827Glu)
c.2070T>A
c.2056T>A
c.2157T>A
c.2082T>A
c.*2400T>A (n.*2400T>A)
c.2093T>A (p.Val698Glu)
gnomAD v4
19g.40396158C>ACA405896795PRXc.2194G>T (p.Val732Leu)
c.1777G>T (p.Val593Leu)
c.2479G>T (p.Val827Leu)
c.2069G>T
c.2055G>T
c.2156G>T
c.2081G>T
c.*2399G>T (n.*2399G>T)
c.2092G>T (p.Val698Leu)
gnomAD v4
19g.40396158C=CA2335961497PRXc.2194G= (p.Val732=)
c.1777G= (p.Val593=)
c.2479G= (p.Val827=)
c.2069G=
c.2055G=
c.2156G=
c.2081G=
c.*2399G= (n.*2399G=)
c.2092G= (p.Val698=)
19g.40396158C>GCA405896796PRXc.2194G>C (p.Val732Leu)
c.1777G>C (p.Val593Leu)
c.2479G>C (p.Val827Leu)
c.2069G>C
c.2055G>C
c.2156G>C
c.2081G>C
c.*2399G>C (n.*2399G>C)
c.2092G>C (p.Val698Leu)
19g.40396158C>TCA405896797PRXc.2194G>A (p.Val732Met)
c.1777G>A (p.Val593Met)
c.2479G>A (p.Val827Met)
c.2069G>A
c.2055G>A
c.2156G>A
c.2081G>A
c.*2399G>A (n.*2399G>A)
c.2092G>A (p.Val698Met)
dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.40396159C>ACA405896798PRXc.2193G>T (p.Lys731Asn)
c.1776G>T (p.Lys592Asn)
c.2478G>T (p.Lys826Asn)
c.2068G>T
c.2054G>T
c.2155G>T
c.2080G>T
c.*2398G>T (n.*2398G>T)
c.2091G>T (p.Lys697Asn)
19g.40396159C>GCA405896799PRXc.2193G>C (p.Lys731Asn)
c.1776G>C (p.Lys592Asn)
c.2478G>C (p.Lys826Asn)
c.2068G>C
c.2054G>C
c.2155G>C
c.2080G>C
c.*2398G>C (n.*2398G>C)
c.2091G>C (p.Lys697Asn)
19g.40396159C>TCA507679361PRXc.2193G>A (p.Lys731=)
c.1776G>A (p.Lys592=)
c.2478G>A (p.Lys826=)
c.2068G>A
c.2054G>A
c.2155G>A
c.2080G>A
c.*2398G>A (n.*2398G>A)
c.2091G>A (p.Lys697=)
gnomAD v3 gnomAD v4
19g.40396160T>ACA405896802PRXc.2192A>T (p.Lys731Met)
c.1775A>T (p.Lys592Met)
c.2477A>T (p.Lys826Met)
c.2067A>T
c.2053A>T
c.2154A>T
c.2079A>T
c.*2397A>T (n.*2397A>T)
c.2090A>T (p.Lys697Met)
19g.40396160T>CCA405896800PRXc.2192A>G (p.Lys731Arg)
c.1775A>G (p.Lys592Arg)
c.2477A>G (p.Lys826Arg)
c.2067A>G
c.2053A>G
c.2154A>G
c.2079A>G
c.*2397A>G (n.*2397A>G)
c.2090A>G (p.Lys697Arg)
19g.40396160T>GCA405896801PRXc.2192A>C (p.Lys731Thr)
c.1775A>C (p.Lys592Thr)
c.2477A>C (p.Lys826Thr)
c.2067A>C
c.2053A>C
c.2154A>C
c.2079A>C
c.*2397A>C (n.*2397A>C)
c.2090A>C (p.Lys697Thr)
19g.40396160_40396161insAATCATTTTGGATTTCTTCCTTCA2585127082PRXc.2192_2193insAGGAAGAAATCCAAAATGATTA (p.Val732GlyfsTer6)
c.1775_1776insAGGAAGAAATCCAAAATGATTA (p.Val593GlyfsTer6)
c.2477_2478insAGGAAGAAATCCAAAATGATTA (p.Val827GlyfsTer6)
c.2067_2068insAGGAAGAAATCCAAAATGATTA
c.2053_2054insAGGAAGAAATCCAAAATGATTA
c.2154_2155insAGGAAGAAATCCAAAATGATTA
c.2079_2080insAGGAAGAAATCCAAAATGATTA
c.*2397_*2398insAGGAAGAAATCCAAAATGATTA (n.*2397_*2398insAGGAAGAAATCCAAAATGATTA)
c.2090_2091insAGGAAGAAATCCAAAATGATTA (p.Val698GlyfsTer6)
gnomAD v4
19g.40396161T>ACA405896803PRXc.2191A>T (p.Lys731Ter)
c.1774A>T (p.Lys592Ter)
c.2476A>T (p.Lys826Ter)
c.2066A>T
c.2052A>T
c.2153A>T
c.2078A>T
c.*2396A>T (n.*2396A>T)
c.2089A>T (p.Lys697Ter)
19g.40396161T>CCA405896804PRXc.2191A>G (p.Lys731Glu)
c.1774A>G (p.Lys592Glu)
c.2476A>G (p.Lys826Glu)
c.2066A>G
c.2052A>G
c.2153A>G
c.2078A>G
c.*2396A>G (n.*2396A>G)
c.2089A>G (p.Lys697Glu)
gnomAD v3 gnomAD v4
19g.40396161T>GCA405896805PRXc.2191A>C (p.Lys731Gln)
c.1774A>C (p.Lys592Gln)
c.2476A>C (p.Lys826Gln)
c.2066A>C
c.2052A>C
c.2153A>C
c.2078A>C
c.*2396A>C (n.*2396A>C)
c.2089A>C (p.Lys697Gln)
19g.40396162G>ACA507679364PRXc.2190C>T (p.Pro730=)
c.1773C>T (p.Pro591=)
c.2475C>T (p.Pro825=)
c.2065C>T
c.2051C>T
c.2152C>T
c.2077C>T
c.*2395C>T (n.*2395C>T)
c.2088C>T (p.Pro696=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.40396162G>CCA507679365PRXc.2190C>G (p.Pro730=)
c.1773C>G (p.Pro591=)
c.2475C>G (p.Pro825=)
c.2065C>G
c.2051C>G
c.2152C>G
c.2077C>G
c.*2395C>G (n.*2395C>G)
c.2088C>G (p.Pro696=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40396162G=CA2335961498PRXc.2190C= (p.Pro730=)
c.1773C= (p.Pro591=)
c.2475C= (p.Pro825=)
c.2065C=
c.2051C=
c.2152C=
c.2077C=
c.*2395C= (n.*2395C=)
c.2088C= (p.Pro696=)
19g.40396162G>TCA507679366PRXc.2190C>A (p.Pro730=)
c.1773C>A (p.Pro591=)
c.2475C>A (p.Pro825=)
c.2065C>A
c.2051C>A
c.2152C>A
c.2077C>A
c.*2395C>A (n.*2395C>A)
c.2088C>A (p.Pro696=)
dbSNP gnomAD v3 gnomAD v4
19g.40396163G>ACA405896806PRXc.2189C>T (p.Pro730Leu)
c.1772C>T (p.Pro591Leu)
c.2474C>T (p.Pro825Leu)
c.2064C>T
c.2050C>T
c.2151C>T
c.2076C>T
c.*2394C>T (n.*2394C>T)
c.2087C>T (p.Pro696Leu)
dbSNP gnomAD v4
19g.40396163G>CCA405896807PRXc.2189C>G (p.Pro730Arg)
c.1772C>G (p.Pro591Arg)
c.2474C>G (p.Pro825Arg)
c.2064C>G
c.2050C>G
c.2151C>G
c.2076C>G
c.*2394C>G (n.*2394C>G)
c.2087C>G (p.Pro696Arg)
19g.40396163G=CA2335961499PRXc.2189C= (p.Pro730=)
c.1772C= (p.Pro591=)
c.2474C= (p.Pro825=)
c.2064C=
c.2050C=
c.2151C=
c.2076C=
c.*2394C= (n.*2394C=)
c.2087C= (p.Pro696=)
19g.40396163G>TCA405896808PRXc.2189C>A (p.Pro730His)
c.1772C>A (p.Pro591His)
c.2474C>A (p.Pro825His)
c.2064C>A
c.2050C>A
c.2151C>A
c.2076C>A
c.*2394C>A (n.*2394C>A)
c.2087C>A (p.Pro696His)
19g.40396164G>ACA405896809PRXc.2188C>T (p.Pro730Ser)
c.1771C>T (p.Pro591Ser)
c.2473C>T (p.Pro825Ser)
c.2063C>T
c.2049C>T
c.2150C>T
c.2075C>T
c.*2393C>T (n.*2393C>T)
c.2086C>T (p.Pro696Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.40396164G>CCA405896810PRXc.2188C>G (p.Pro730Ala)
c.1771C>G (p.Pro591Ala)
c.2473C>G (p.Pro825Ala)
c.2063C>G
c.2049C>G
c.2150C>G
c.2075C>G
c.*2393C>G (n.*2393C>G)
c.2086C>G (p.Pro696Ala)
19g.40396164G=CA2335961500PRXc.2188C= (p.Pro730=)
c.1771C= (p.Pro591=)
c.2473C= (p.Pro825=)
c.2063C=
c.2049C=
c.2150C=
c.2075C=
c.*2393C= (n.*2393C=)
c.2086C= (p.Pro696=)
19g.40396164G>TCA405896811PRXc.2188C>A (p.Pro730Thr)
c.1771C>A (p.Pro591Thr)
c.2473C>A (p.Pro825Thr)
c.2063C>A
c.2049C>A
c.2150C>A
c.2075C>A
c.*2393C>A (n.*2393C>A)
c.2086C>A (p.Pro696Thr)
19g.40396165G>ACA507679367PRXc.2187C>T (p.Leu729=)
c.1770C>T (p.Leu590=)
c.2472C>T (p.Leu824=)
c.2062C>T
c.2048C>T
c.2149C>T
c.2074C>T
c.*2392C>T (n.*2392C>T)
c.2085C>T (p.Leu695=)
19g.40396165G>CCA507679368PRXc.2187C>G (p.Leu729=)
c.1770C>G (p.Leu590=)
c.2472C>G (p.Leu824=)
c.2062C>G
c.2048C>G
c.2149C>G
c.2074C>G
c.*2392C>G (n.*2392C>G)
c.2085C>G (p.Leu695=)
19g.40396165G>TCA507679369PRXc.2187C>A (p.Leu729=)
c.1770C>A (p.Leu590=)
c.2472C>A (p.Leu824=)
c.2062C>A
c.2048C>A
c.2149C>A
c.2074C>A
c.*2392C>A (n.*2392C>A)
c.2085C>A (p.Leu695=)
dbSNP gnomAD v3 gnomAD v4
19g.40396166A>CCA405896812PRXc.2186T>G (p.Leu729Arg)
c.1769T>G (p.Leu590Arg)
c.2471T>G (p.Leu824Arg)
c.2061T>G
c.2047T>G
c.2148T>G
c.2073T>G
c.*2391T>G (n.*2391T>G)
c.2084T>G (p.Leu695Arg)
19g.40396166A>GCA405896813PRXc.2186T>C (p.Leu729Pro)
c.1769T>C (p.Leu590Pro)
c.2471T>C (p.Leu824Pro)
c.2061T>C
c.2047T>C
c.2148T>C
c.2073T>C
c.*2391T>C (n.*2391T>C)
c.2084T>C (p.Leu695Pro)
gnomAD v4
19g.40396166A>TCA405896814PRXc.2186T>A (p.Leu729His)
c.1769T>A (p.Leu590His)
c.2471T>A (p.Leu824His)
c.2061T>A
c.2047T>A
c.2148T>A
c.2073T>A
c.*2391T>A (n.*2391T>A)
c.2084T>A (p.Leu695His)
19g.40396167G>ACA405896815PRXc.2185C>T (p.Leu729Phe)
c.1768C>T (p.Leu590Phe)
c.2470C>T (p.Leu824Phe)
c.2060C>T
c.2046C>T
c.2147C>T
c.2072C>T
c.*2390C>T (n.*2390C>T)
c.2083C>T (p.Leu695Phe)
ClinVar dbSNP
19g.40396167G>CCA405896817PRXc.2185C>G (p.Leu729Val)
c.1768C>G (p.Leu590Val)
c.2470C>G (p.Leu824Val)
c.2060C>G
c.2046C>G
c.2147C>G
c.2072C>G
c.*2390C>G (n.*2390C>G)
c.2083C>G (p.Leu695Val)
19g.40396167G=CA2335961501PRXc.2185C= (p.Leu729=)
c.1768C= (p.Leu590=)
c.2470C= (p.Leu824=)
c.2060C=
c.2046C=
c.2147C=
c.2072C=
c.*2390C= (n.*2390C=)
c.2083C= (p.Leu695=)
19g.40396167G>TCA405896816PRXc.2185C>A (p.Leu729Ile)
c.1768C>A (p.Leu590Ile)
c.2470C>A (p.Leu824Ile)
c.2060C>A
c.2046C>A
c.2147C>A
c.2072C>A
c.*2390C>A (n.*2390C>A)
c.2083C>A (p.Leu695Ile)
dbSNP gnomAD v3 gnomAD v4
19g.40396168T>ACA405896818PRXc.2184A>T (p.Lys728Asn)
c.1767A>T (p.Lys589Asn)
c.2469A>T (p.Lys823Asn)
c.2059A>T
c.2045A>T
c.2146A>T
c.2071A>T
c.*2389A>T (n.*2389A>T)
c.2082A>T (p.Lys694Asn)
19g.40396168T>CCA507679374PRXc.2184A>G (p.Lys728=)
c.1767A>G (p.Lys589=)
c.2469A>G (p.Lys823=)
c.2059A>G
c.2045A>G
c.2146A>G
c.2071A>G
c.*2389A>G (n.*2389A>G)
c.2082A>G (p.Lys694=)
ClinVar dbSNP
19g.40396168T>GCA405896819PRXc.2184A>C (p.Lys728Asn)
c.1767A>C (p.Lys589Asn)
c.2469A>C (p.Lys823Asn)
c.2059A>C
c.2045A>C
c.2146A>C
c.2071A>C
c.*2389A>C (n.*2389A>C)
c.2082A>C (p.Lys694Asn)
19g.40396169T>ACA405896820PRXc.2183A>T (p.Lys728Ile)
c.1766A>T (p.Lys589Ile)
c.2468A>T (p.Lys823Ile)
c.2058A>T
c.2044A>T
c.2145A>T
c.2070A>T
c.*2388A>T (n.*2388A>T)
c.2081A>T (p.Lys694Ile)
19g.40396169T>CCA405896821PRXc.2183A>G (p.Lys728Arg)
c.1766A>G (p.Lys589Arg)
c.2468A>G (p.Lys823Arg)
c.2058A>G
c.2044A>G
c.2145A>G
c.2070A>G
c.*2388A>G (n.*2388A>G)
c.2081A>G (p.Lys694Arg)
19g.40396169T>GCA405896822PRXc.2183A>C (p.Lys728Thr)
c.1766A>C (p.Lys589Thr)
c.2468A>C (p.Lys823Thr)
c.2058A>C
c.2044A>C
c.2145A>C
c.2070A>C
c.*2388A>C (n.*2388A>C)
c.2081A>C (p.Lys694Thr)
19g.40396169_40396170insGCACCA995889336PRXc.2182_2183insGTGC (p.Lys728SerfsTer8)
c.1765_1766insGTGC (p.Lys589SerfsTer8)
c.2467_2468insGTGC (p.Lys823SerfsTer8)
c.2057_2058insGTGC
c.2043_2044insGTGC
c.2144_2145insGTGC
c.2069_2070insGTGC
c.*2387_*2388insGTGC (n.*2387_*2388insGTGC)
c.2080_2081insGTGC (p.Lys694SerfsTer8)
gnomAD v3 gnomAD v4
19g.40396170T>ACA405896823PRXc.2182A>T (p.Lys728Ter)
c.1765A>T (p.Lys589Ter)
c.2467A>T (p.Lys823Ter)
c.2057A>T
c.2043A>T
c.2144A>T
c.2069A>T
c.*2387A>T (n.*2387A>T)
c.2080A>T (p.Lys694Ter)
19g.40396170T>CCA405896824PRXc.2182A>G (p.Lys728Glu)
c.1765A>G (p.Lys589Glu)
c.2467A>G (p.Lys823Glu)
c.2057A>G
c.2043A>G
c.2144A>G
c.2069A>G
c.*2387A>G (n.*2387A>G)
c.2080A>G (p.Lys694Glu)
19g.40396170T>GCA405896825PRXc.2182A>C (p.Lys728Gln)
c.1765A>C (p.Lys589Gln)
c.2467A>C (p.Lys823Gln)
c.2057A>C
c.2043A>C
c.2144A>C
c.2069A>C
c.*2387A>C (n.*2387A>C)
c.2080A>C (p.Lys694Gln)
gnomAD v3 gnomAD v4
19g.40396171T>ACA507679379PRXc.2181A>T (p.Ile727=)
c.1764A>T (p.Ile588=)
c.2466A>T (p.Ile822=)
c.2056A>T
c.2042A>T
c.2143A>T
c.2068A>T
c.*2386A>T (n.*2386A>T)
c.2079A>T (p.Ile693=)
19g.40396171T>CCA308419627PRXc.2181A>G (p.Ile727Met)
c.1764A>G (p.Ile588Met)
c.2466A>G (p.Ile822Met)
c.2056A>G
c.2042A>G
c.2143A>G
c.2068A>G
c.*2386A>G (n.*2386A>G)
c.2079A>G (p.Ile693Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.40396171T>GCA507679380PRXc.2181A>C (p.Ile727=)
c.1764A>C (p.Ile588=)
c.2466A>C (p.Ile822=)
c.2056A>C
c.2042A>C
c.2143A>C
c.2068A>C
c.*2386A>C (n.*2386A>C)
c.2079A>C (p.Ile693=)
19g.40396171T=CA2335961502PRXc.2181A= (p.Ile727=)
c.1764A= (p.Ile588=)
c.2466A= (p.Ile822=)
c.2056A=
c.2042A=
c.2143A=
c.2068A=
c.*2386A= (n.*2386A=)
c.2079A= (p.Ile693=)
19g.40396172_40396173delCA2739276801PRXc.2180_2181del (p.Ile727LysfsTer7)
c.1763_1764del (p.Ile588LysfsTer7)
c.2465_2466del (p.Ile822LysfsTer7)
c.2055_2056del
c.2041_2042del
c.2142_2143del
c.2067_2068del
c.*2385_*2386del (n.*2385_*2386del)
c.2078_2079del (p.Ile693LysfsTer7)
ClinVar
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.40396172A>CCA405896826PRXc.2180T>G (p.Ile727Arg)
c.1763T>G (p.Ile588Arg)
c.2465T>G (p.Ile822Arg)
c.2055T>G
c.2041T>G
c.2142T>G
c.2067T>G
c.*2385T>G (n.*2385T>G)
c.2078T>G (p.Ile693Arg)
19g.40396172A>GCA405896827PRXc.2180T>C (p.Ile727Thr)
c.1763T>C (p.Ile588Thr)
c.2465T>C (p.Ile822Thr)
c.2055T>C
c.2041T>C
c.2142T>C
c.2067T>C
c.*2385T>C (n.*2385T>C)
c.2078T>C (p.Ile693Thr)
19g.40396172A>TCA405896828PRXc.2180T>A (p.Ile727Lys)
c.1763T>A (p.Ile588Lys)
c.2465T>A (p.Ile822Lys)
c.2055T>A
c.2041T>A
c.2142T>A
c.2067T>A
c.*2385T>A (n.*2385T>A)
c.2078T>A (p.Ile693Lys)
19g.40396173T>ACA405896829PRXc.2179A>T (p.Ile727Leu)
c.1762A>T (p.Ile588Leu)
c.2464A>T (p.Ile822Leu)
c.2054A>T
c.2040A>T
c.2141A>T
c.2066A>T
c.*2384A>T (n.*2384A>T)
c.2077A>T (p.Ile693Leu)
19g.40396173T>CCA405896830PRXc.2179A>G (p.Ile727Val)
c.1762A>G (p.Ile588Val)
c.2464A>G (p.Ile822Val)
c.2054A>G
c.2040A>G
c.2141A>G
c.2066A>G
c.*2384A>G (n.*2384A>G)
c.2077A>G (p.Ile693Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40396173T>GCA405896831PRXc.2179A>C (p.Ile727Leu)
c.1762A>C (p.Ile588Leu)
c.2464A>C (p.Ile822Leu)
c.2054A>C
c.2040A>C
c.2141A>C
c.2066A>C
c.*2384A>C (n.*2384A>C)
c.2077A>C (p.Ile693Leu)
19g.40396173T=CA2335961503PRXc.2179A= (p.Ile727=)
c.1762A= (p.Ile588=)
c.2464A= (p.Ile822=)
c.2054A=
c.2040A=
c.2141A=
c.2066A=
c.*2384A= (n.*2384A=)
c.2077A= (p.Ile693=)
19g.40396174C>ACA405896832PRXc.2178G>T (p.Glu726Asp)
c.1761G>T (p.Glu587Asp)
c.2463G>T (p.Glu821Asp)
c.2053G>T
c.2039G>T
c.2140G>T
c.2065G>T
c.*2383G>T (n.*2383G>T)
c.2076G>T (p.Glu692Asp)
19g.40396174C=CA2335961504PRXc.2178G= (p.Glu726=)
c.1761G= (p.Glu587=)
c.2463G= (p.Glu821=)
c.2053G=
c.2039G=
c.2140G=
c.2065G=
c.*2383G= (n.*2383G=)
c.2076G= (p.Glu692=)
19g.40396174C>GCA9444113PRXc.2178G>C (p.Glu726Asp)
c.1761G>C (p.Glu587Asp)
c.2463G>C (p.Glu821Asp)
c.2053G>C
c.2039G>C
c.2140G>C
c.2065G>C
c.*2383G>C (n.*2383G>C)
c.2076G>C (p.Glu692Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.40396174C>TCA507679387PRXc.2178G>A (p.Glu726=)
c.1761G>A (p.Glu587=)
c.2463G>A (p.Glu821=)
c.2053G>A
c.2039G>A
c.2140G>A
c.2065G>A
c.*2383G>A (n.*2383G>A)
c.2076G>A (p.Glu692=)
ClinVar dbSNP
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

Number of alleles fetched