Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.47848246C>ACA352590362DHX30c.2353C>A (p.Arg785Ser)
c.2269C>A (p.Arg757Ser)
c.*2253C>A (n.*2253C>A)
c.2437C>A (p.Arg813Ser)
n.470C>A
c.2236C>A (p.Arg746Ser)
c.2257C>A (p.Arg753Ser)
c.2566C>A (p.Arg856Ser)
c.2455C>A (p.Arg819Ser)
c.2485C>A (p.Arg829Ser)
c.2242C>A (p.Arg748Ser)
3g.47848246C=CA1362750228DHX30c.2353C= (p.Arg785=)
c.2269C= (p.Arg757=)
c.*2253C= (n.*2253C=)
c.2437C= (p.Arg813=)
n.470C=
c.2236C= (p.Arg746=)
c.2257C= (p.Arg753=)
c.2566C= (p.Arg856=)
c.2455C= (p.Arg819=)
c.2485C= (p.Arg829=)
c.2242C= (p.Arg748=)
3g.47848246C>GCA352590363DHX30c.2353C>G (p.Arg785Gly)
c.2269C>G (p.Arg757Gly)
c.*2253C>G (n.*2253C>G)
c.2437C>G (p.Arg813Gly)
n.470C>G
c.2236C>G (p.Arg746Gly)
c.2257C>G (p.Arg753Gly)
c.2566C>G (p.Arg856Gly)
c.2455C>G (p.Arg819Gly)
c.2485C>G (p.Arg829Gly)
c.2242C>G (p.Arg748Gly)
3g.47848246C>TCA352590365DHX30c.2353C>T (p.Arg785Cys)
c.2269C>T (p.Arg757Cys)
c.*2253C>T (n.*2253C>T)
c.2437C>T (p.Arg813Cys)
n.470C>T
c.2236C>T (p.Arg746Cys)
c.2257C>T (p.Arg753Cys)
c.2566C>T (p.Arg856Cys)
c.2455C>T (p.Arg819Cys)
c.2485C>T (p.Arg829Cys)
c.2242C>T (p.Arg748Cys)
 ClinVar dbSNP
3g.47848247G>ACA352590368DHX30c.2354G>A (p.Arg785His)
c.2270G>A (p.Arg757His)
c.*2254G>A (n.*2254G>A)
c.2438G>A (p.Arg813His)
n.471G>A
c.2237G>A (p.Arg746His)
c.2258G>A (p.Arg753His)
c.2567G>A (p.Arg856His)
c.2456G>A (p.Arg819His)
c.2486G>A (p.Arg829His)
c.2243G>A (p.Arg748His)
 ClinVar dbSNP
3g.47848247G>CCA352590370DHX30c.2354G>C (p.Arg785Pro)
c.2270G>C (p.Arg757Pro)
c.*2254G>C (n.*2254G>C)
c.2438G>C (p.Arg813Pro)
n.471G>C
c.2237G>C (p.Arg746Pro)
c.2258G>C (p.Arg753Pro)
c.2567G>C (p.Arg856Pro)
c.2456G>C (p.Arg819Pro)
c.2486G>C (p.Arg829Pro)
c.2243G>C (p.Arg748Pro)
3g.47848247G=CA1362750229DHX30c.2354G= (p.Arg785=)
c.2270G= (p.Arg757=)
c.*2254G= (n.*2254G=)
c.2438G= (p.Arg813=)
n.471G=
c.2237G= (p.Arg746=)
c.2258G= (p.Arg753=)
c.2567G= (p.Arg856=)
c.2456G= (p.Arg819=)
c.2486G= (p.Arg829=)
c.2243G= (p.Arg748=)
3g.47848247G>TCA352590372DHX30c.2354G>T (p.Arg785Leu)
c.2270G>T (p.Arg757Leu)
c.*2254G>T (n.*2254G>T)
c.2438G>T (p.Arg813Leu)
n.471G>T
c.2237G>T (p.Arg746Leu)
c.2258G>T (p.Arg753Leu)
c.2567G>T (p.Arg856Leu)
c.2456G>T (p.Arg819Leu)
c.2486G>T (p.Arg829Leu)
c.2243G>T (p.Arg748Leu)
3g.47848248C>ACA433608781DHX30c.2355C>A (p.Arg785=)
c.2271C>A (p.Arg757=)
c.*2255C>A (n.*2255C>A)
c.2439C>A (p.Arg813=)
n.472C>A
c.2238C>A (p.Arg746=)
c.2259C>A (p.Arg753=)
c.2568C>A (p.Arg856=)
c.2457C>A (p.Arg819=)
c.2487C>A (p.Arg829=)
c.2244C>A (p.Arg748=)
3g.47848248C=CA1362750230DHX30c.2355C= (p.Arg785=)
c.2271C= (p.Arg757=)
c.*2255C= (n.*2255C=)
c.2439C= (p.Arg813=)
n.472C=
c.2238C= (p.Arg746=)
c.2259C= (p.Arg753=)
c.2568C= (p.Arg856=)
c.2457C= (p.Arg819=)
c.2487C= (p.Arg829=)
c.2244C= (p.Arg748=)
3g.47848248C>GCA433608782DHX30c.2355C>G (p.Arg785=)
c.2271C>G (p.Arg757=)
c.*2255C>G (n.*2255C>G)
c.2439C>G (p.Arg813=)
n.472C>G
c.2238C>G (p.Arg746=)
c.2259C>G (p.Arg753=)
c.2568C>G (p.Arg856=)
c.2457C>G (p.Arg819=)
c.2487C>G (p.Arg829=)
c.2244C>G (p.Arg748=)
 gnomAD v4
3g.47848248C>TCA433608783DHX30c.2355C>T (p.Arg785=)
c.2271C>T (p.Arg757=)
c.*2255C>T (n.*2255C>T)
c.2439C>T (p.Arg813=)
n.472C>T
c.2238C>T (p.Arg746=)
c.2259C>T (p.Arg753=)
c.2568C>T (p.Arg856=)
c.2457C>T (p.Arg819=)
c.2487C>T (p.Arg829=)
c.2244C>T (p.Arg748=)
 dbSNP gnomAD v2 gnomAD v4
3g.47848249T>ACA352590379DHX30c.2356T>A (p.Cys786Ser)
c.2272T>A (p.Cys758Ser)
c.*2256T>A (n.*2256T>A)
c.2440T>A (p.Cys814Ser)
n.473T>A
c.2239T>A (p.Cys747Ser)
c.2260T>A (p.Cys754Ser)
c.2569T>A (p.Cys857Ser)
c.2458T>A (p.Cys820Ser)
c.2488T>A (p.Cys830Ser)
c.2245T>A (p.Cys749Ser)
3g.47848249T>CCA352590376DHX30c.2356T>C (p.Cys786Arg)
c.2272T>C (p.Cys758Arg)
c.*2256T>C (n.*2256T>C)
c.2440T>C (p.Cys814Arg)
n.473T>C
c.2239T>C (p.Cys747Arg)
c.2260T>C (p.Cys754Arg)
c.2569T>C (p.Cys857Arg)
c.2458T>C (p.Cys820Arg)
c.2488T>C (p.Cys830Arg)
c.2245T>C (p.Cys749Arg)
3g.47848249T>GCA352590374DHX30c.2356T>G (p.Cys786Gly)
c.2272T>G (p.Cys758Gly)
c.*2256T>G (n.*2256T>G)
c.2440T>G (p.Cys814Gly)
n.473T>G
c.2239T>G (p.Cys747Gly)
c.2260T>G (p.Cys754Gly)
c.2569T>G (p.Cys857Gly)
c.2458T>G (p.Cys820Gly)
c.2488T>G (p.Cys830Gly)
c.2245T>G (p.Cys749Gly)
3g.47848250G>ACA352590381DHX30c.2357G>A (p.Cys786Tyr)
c.2273G>A (p.Cys758Tyr)
c.*2257G>A (n.*2257G>A)
c.2441G>A (p.Cys814Tyr)
n.474G>A
c.2240G>A (p.Cys747Tyr)
c.2261G>A (p.Cys754Tyr)
c.2570G>A (p.Cys857Tyr)
c.2459G>A (p.Cys820Tyr)
c.2489G>A (p.Cys830Tyr)
c.2246G>A (p.Cys749Tyr)
3g.47848250G>CCA352590383DHX30c.2357G>C (p.Cys786Ser)
c.2273G>C (p.Cys758Ser)
c.*2257G>C (n.*2257G>C)
c.2441G>C (p.Cys814Ser)
n.474G>C
c.2240G>C (p.Cys747Ser)
c.2261G>C (p.Cys754Ser)
c.2570G>C (p.Cys857Ser)
c.2459G>C (p.Cys820Ser)
c.2489G>C (p.Cys830Ser)
c.2246G>C (p.Cys749Ser)
3g.47848250G>TCA352590384DHX30c.2357G>T (p.Cys786Phe)
c.2273G>T (p.Cys758Phe)
c.*2257G>T (n.*2257G>T)
c.2441G>T (p.Cys814Phe)
n.474G>T
c.2240G>T (p.Cys747Phe)
c.2261G>T (p.Cys754Phe)
c.2570G>T (p.Cys857Phe)
c.2459G>T (p.Cys820Phe)
c.2489G>T (p.Cys830Phe)
c.2246G>T (p.Cys749Phe)
3g.47848251C>ACA352590386DHX30c.2358C>A (p.Cys786Ter)
c.2274C>A (p.Cys758Ter)
c.*2258C>A (n.*2258C>A)
c.2442C>A (p.Cys814Ter)
n.475C>A
c.2241C>A (p.Cys747Ter)
c.2262C>A (p.Cys754Ter)
c.2571C>A (p.Cys857Ter)
c.2460C>A (p.Cys820Ter)
c.2490C>A (p.Cys830Ter)
c.2247C>A (p.Cys749Ter)
3g.47848251C=CA1362750231DHX30c.2358C= (p.Cys786=)
c.2274C= (p.Cys758=)
c.*2258C= (n.*2258C=)
c.2442C= (p.Cys814=)
n.475C=
c.2241C= (p.Cys747=)
c.2262C= (p.Cys754=)
c.2571C= (p.Cys857=)
c.2460C= (p.Cys820=)
c.2490C= (p.Cys830=)
c.2247C= (p.Cys749=)
3g.47848251C>GCA352590388DHX30c.2358C>G (p.Cys786Trp)
c.2274C>G (p.Cys758Trp)
c.*2258C>G (n.*2258C>G)
c.2442C>G (p.Cys814Trp)
n.475C>G
c.2241C>G (p.Cys747Trp)
c.2262C>G (p.Cys754Trp)
c.2571C>G (p.Cys857Trp)
c.2460C>G (p.Cys820Trp)
c.2490C>G (p.Cys830Trp)
c.2247C>G (p.Cys749Trp)
3g.47848251C>TCA2370113DHX30c.2358C>T (p.Cys786=)
c.2274C>T (p.Cys758=)
c.*2258C>T (n.*2258C>T)
c.2442C>T (p.Cys814=)
n.475C>T
c.2241C>T (p.Cys747=)
c.2262C>T (p.Cys754=)
c.2571C>T (p.Cys857=)
c.2460C>T (p.Cys820=)
c.2490C>T (p.Cys830=)
c.2247C>T (p.Cys749=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.47848252C>ACA352590392DHX30c.2359C>A (p.Gln787Lys)
c.2275C>A (p.Gln759Lys)
c.*2259C>A (n.*2259C>A)
c.2443C>A (p.Gln815Lys)
n.476C>A
c.2242C>A (p.Gln748Lys)
c.2263C>A (p.Gln755Lys)
c.2572C>A (p.Gln858Lys)
c.2461C>A (p.Gln821Lys)
c.2491C>A (p.Gln831Lys)
c.2248C>A (p.Gln750Lys)
3g.47848252C>GCA352590394DHX30c.2359C>G (p.Gln787Glu)
c.2275C>G (p.Gln759Glu)
c.*2259C>G (n.*2259C>G)
c.2443C>G (p.Gln815Glu)
n.476C>G
c.2242C>G (p.Gln748Glu)
c.2263C>G (p.Gln755Glu)
c.2572C>G (p.Gln858Glu)
c.2461C>G (p.Gln821Glu)
c.2491C>G (p.Gln831Glu)
c.2248C>G (p.Gln750Glu)
3g.47848252C>TCA352590396DHX30c.2359C>T (p.Gln787Ter)
c.2275C>T (p.Gln759Ter)
c.*2259C>T (n.*2259C>T)
c.2443C>T (p.Gln815Ter)
n.476C>T
c.2242C>T (p.Gln748Ter)
c.2263C>T (p.Gln755Ter)
c.2572C>T (p.Gln858Ter)
c.2461C>T (p.Gln821Ter)
c.2491C>T (p.Gln831Ter)
c.2248C>T (p.Gln750Ter)
 ClinVar
3g.47848253A>CCA352590398DHX30c.2360A>C (p.Gln787Pro)
c.2276A>C (p.Gln759Pro)
c.*2260A>C (n.*2260A>C)
c.2444A>C (p.Gln815Pro)
n.477A>C
c.2243A>C (p.Gln748Pro)
c.2264A>C (p.Gln755Pro)
c.2573A>C (p.Gln858Pro)
c.2462A>C (p.Gln821Pro)
c.2492A>C (p.Gln831Pro)
c.2249A>C (p.Gln750Pro)
3g.47848253A>GCA352590400DHX30c.2360A>G (p.Gln787Arg)
c.2276A>G (p.Gln759Arg)
c.*2260A>G (n.*2260A>G)
c.2444A>G (p.Gln815Arg)
n.477A>G
c.2243A>G (p.Gln748Arg)
c.2264A>G (p.Gln755Arg)
c.2573A>G (p.Gln858Arg)
c.2462A>G (p.Gln821Arg)
c.2492A>G (p.Gln831Arg)
c.2249A>G (p.Gln750Arg)
3g.47848253A>TCA352590402DHX30c.2360A>T (p.Gln787Leu)
c.2276A>T (p.Gln759Leu)
c.*2260A>T (n.*2260A>T)
c.2444A>T (p.Gln815Leu)
n.477A>T
c.2243A>T (p.Gln748Leu)
c.2264A>T (p.Gln755Leu)
c.2573A>T (p.Gln858Leu)
c.2462A>T (p.Gln821Leu)
c.2492A>T (p.Gln831Leu)
c.2249A>T (p.Gln750Leu)
 gnomAD v4
3g.47848254G>ACA433608785DHX30c.2361G>A (p.Gln787=)
c.2277G>A (p.Gln759=)
c.*2261G>A (n.*2261G>A)
c.2445G>A (p.Gln815=)
n.478G>A
c.2244G>A (p.Gln748=)
c.2265G>A (p.Gln755=)
c.2574G>A (p.Gln858=)
c.2463G>A (p.Gln821=)
c.2493G>A (p.Gln831=)
c.2250G>A (p.Gln750=)
 gnomAD v4
3g.47848254G>CCA352590406DHX30c.2361G>C (p.Gln787His)
c.2277G>C (p.Gln759His)
c.*2261G>C (n.*2261G>C)
c.2445G>C (p.Gln815His)
n.478G>C
c.2244G>C (p.Gln748His)
c.2265G>C (p.Gln755His)
c.2574G>C (p.Gln858His)
c.2463G>C (p.Gln821His)
c.2493G>C (p.Gln831His)
c.2250G>C (p.Gln750His)
3g.47848254G>TCA352590404DHX30c.2361G>T (p.Gln787His)
c.2277G>T (p.Gln759His)
c.*2261G>T (n.*2261G>T)
c.2445G>T (p.Gln815His)
n.478G>T
c.2244G>T (p.Gln748His)
c.2265G>T (p.Gln755His)
c.2574G>T (p.Gln858His)
c.2463G>T (p.Gln821His)
c.2493G>T (p.Gln831His)
c.2250G>T (p.Gln750His)
 gnomAD v4
3g.47848255T>ACA352590408DHX30c.2362T>A (p.Ser788Thr)
c.2278T>A (p.Ser760Thr)
c.*2262T>A (n.*2262T>A)
c.2446T>A (p.Ser816Thr)
n.479T>A
c.2245T>A (p.Ser749Thr)
c.2266T>A (p.Ser756Thr)
c.2575T>A (p.Ser859Thr)
c.2464T>A (p.Ser822Thr)
c.2494T>A (p.Ser832Thr)
c.2251T>A (p.Ser751Thr)
3g.47848255T>CCA352590410DHX30c.2362T>C (p.Ser788Pro)
c.2278T>C (p.Ser760Pro)
c.*2262T>C (n.*2262T>C)
c.2446T>C (p.Ser816Pro)
n.479T>C
c.2245T>C (p.Ser749Pro)
c.2266T>C (p.Ser756Pro)
c.2575T>C (p.Ser859Pro)
c.2464T>C (p.Ser822Pro)
c.2494T>C (p.Ser832Pro)
c.2251T>C (p.Ser751Pro)
3g.47848255T>GCA352590412DHX30c.2362T>G (p.Ser788Ala)
c.2278T>G (p.Ser760Ala)
c.*2262T>G (n.*2262T>G)
c.2446T>G (p.Ser816Ala)
n.479T>G
c.2245T>G (p.Ser749Ala)
c.2266T>G (p.Ser756Ala)
c.2575T>G (p.Ser859Ala)
c.2464T>G (p.Ser822Ala)
c.2494T>G (p.Ser832Ala)
c.2251T>G (p.Ser751Ala)
3g.47848256C>ACA352590414DHX30c.2363C>A (p.Ser788Tyr)
c.2279C>A (p.Ser760Tyr)
c.*2263C>A (n.*2263C>A)
c.2447C>A (p.Ser816Tyr)
n.480C>A
c.2246C>A (p.Ser749Tyr)
c.2267C>A (p.Ser756Tyr)
c.2576C>A (p.Ser859Tyr)
c.2465C>A (p.Ser822Tyr)
c.2495C>A (p.Ser832Tyr)
c.2252C>A (p.Ser751Tyr)
3g.47848256C=CA1362750232DHX30c.2363C= (p.Ser788=)
c.2279C= (p.Ser760=)
c.*2263C= (n.*2263C=)
c.2447C= (p.Ser816=)
n.480C=
c.2246C= (p.Ser749=)
c.2267C= (p.Ser756=)
c.2576C= (p.Ser859=)
c.2465C= (p.Ser822=)
c.2495C= (p.Ser832=)
c.2252C= (p.Ser751=)
3g.47848256C>GCA352590416DHX30c.2363C>G (p.Ser788Cys)
c.2279C>G (p.Ser760Cys)
c.*2263C>G (n.*2263C>G)
c.2447C>G (p.Ser816Cys)
n.480C>G
c.2246C>G (p.Ser749Cys)
c.2267C>G (p.Ser756Cys)
c.2576C>G (p.Ser859Cys)
c.2465C>G (p.Ser822Cys)
c.2495C>G (p.Ser832Cys)
c.2252C>G (p.Ser751Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47848256C>TCA352590418DHX30c.2363C>T (p.Ser788Phe)
c.2279C>T (p.Ser760Phe)
c.*2263C>T (n.*2263C>T)
c.2447C>T (p.Ser816Phe)
n.480C>T
c.2246C>T (p.Ser749Phe)
c.2267C>T (p.Ser756Phe)
c.2576C>T (p.Ser859Phe)
c.2465C>T (p.Ser822Phe)
c.2495C>T (p.Ser832Phe)
c.2252C>T (p.Ser751Phe)
3g.47848257C>ACA433608789DHX30c.2364C>A (p.Ser788=)
c.2280C>A (p.Ser760=)
c.*2264C>A (n.*2264C>A)
c.2448C>A (p.Ser816=)
n.481C>A
c.2247C>A (p.Ser749=)
c.2268C>A (p.Ser756=)
c.2577C>A (p.Ser859=)
c.2466C>A (p.Ser822=)
c.2496C>A (p.Ser832=)
c.2253C>A (p.Ser751=)
3g.47848257C=CA1362750233DHX30c.2364C= (p.Ser788=)
c.2280C= (p.Ser760=)
c.*2264C= (n.*2264C=)
c.2448C= (p.Ser816=)
n.481C=
c.2247C= (p.Ser749=)
c.2268C= (p.Ser756=)
c.2577C= (p.Ser859=)
c.2466C= (p.Ser822=)
c.2496C= (p.Ser832=)
c.2253C= (p.Ser751=)
3g.47848257C>GCA433608790DHX30c.2364C>G (p.Ser788=)
c.2280C>G (p.Ser760=)
c.*2264C>G (n.*2264C>G)
c.2448C>G (p.Ser816=)
n.481C>G
c.2247C>G (p.Ser749=)
c.2268C>G (p.Ser756=)
c.2577C>G (p.Ser859=)
c.2466C>G (p.Ser822=)
c.2496C>G (p.Ser832=)
c.2253C>G (p.Ser751=)
 gnomAD v4
3g.47848257C>TCA2370114DHX30c.2364C>T (p.Ser788=)
c.2280C>T (p.Ser760=)
c.*2264C>T (n.*2264C>T)
c.2448C>T (p.Ser816=)
n.481C>T
c.2247C>T (p.Ser749=)
c.2268C>T (p.Ser756=)
c.2577C>T (p.Ser859=)
c.2466C>T (p.Ser822=)
c.2496C>T (p.Ser832=)
c.2253C>T (p.Ser751=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848258G>ACA2370115DHX30c.2365G>A (p.Gly789Ser)
c.2281G>A (p.Gly761Ser)
c.*2265G>A (n.*2265G>A)
c.2449G>A (p.Gly817Ser)
n.482G>A
c.2248G>A (p.Gly750Ser)
c.2269G>A (p.Gly757Ser)
c.2578G>A (p.Gly860Ser)
c.2467G>A (p.Gly823Ser)
c.2497G>A (p.Gly833Ser)
c.2254G>A (p.Gly752Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848258G>CCA352590424DHX30c.2365G>C (p.Gly789Arg)
c.2281G>C (p.Gly761Arg)
c.*2265G>C (n.*2265G>C)
c.2449G>C (p.Gly817Arg)
n.482G>C
c.2248G>C (p.Gly750Arg)
c.2269G>C (p.Gly757Arg)
c.2578G>C (p.Gly860Arg)
c.2467G>C (p.Gly823Arg)
c.2497G>C (p.Gly833Arg)
c.2254G>C (p.Gly752Arg)
3g.47848258G=CA1362750234DHX30c.2365G= (p.Gly789=)
c.2281G= (p.Gly761=)
c.*2265G= (n.*2265G=)
c.2449G= (p.Gly817=)
n.482G=
c.2248G= (p.Gly750=)
c.2269G= (p.Gly757=)
c.2578G= (p.Gly860=)
c.2467G= (p.Gly823=)
c.2497G= (p.Gly833=)
c.2254G= (p.Gly752=)
3g.47848258G>TCA352590425DHX30c.2365G>T (p.Gly789Cys)
c.2281G>T (p.Gly761Cys)
c.*2265G>T (n.*2265G>T)
c.2449G>T (p.Gly817Cys)
n.482G>T
c.2248G>T (p.Gly750Cys)
c.2269G>T (p.Gly757Cys)
c.2578G>T (p.Gly860Cys)
c.2467G>T (p.Gly823Cys)
c.2497G>T (p.Gly833Cys)
c.2254G>T (p.Gly752Cys)
3g.47848259G>ACA352590426DHX30c.2366G>A (p.Gly789Asp)
c.2282G>A (p.Gly761Asp)
c.*2266G>A (n.*2266G>A)
c.2450G>A (p.Gly817Asp)
n.483G>A
c.2249G>A (p.Gly750Asp)
c.2270G>A (p.Gly757Asp)
c.2579G>A (p.Gly860Asp)
c.2468G>A (p.Gly823Asp)
c.2498G>A (p.Gly833Asp)
c.2255G>A (p.Gly752Asp)
3g.47848259G>CCA352590427DHX30c.2366G>C (p.Gly789Ala)
c.2282G>C (p.Gly761Ala)
c.*2266G>C (n.*2266G>C)
c.2450G>C (p.Gly817Ala)
n.483G>C
c.2249G>C (p.Gly750Ala)
c.2270G>C (p.Gly757Ala)
c.2579G>C (p.Gly860Ala)
c.2468G>C (p.Gly823Ala)
c.2498G>C (p.Gly833Ala)
c.2255G>C (p.Gly752Ala)
3g.47848259G>TCA352590429DHX30c.2366G>T (p.Gly789Val)
c.2282G>T (p.Gly761Val)
c.*2266G>T (n.*2266G>T)
c.2450G>T (p.Gly817Val)
n.483G>T
c.2249G>T (p.Gly750Val)
c.2270G>T (p.Gly757Val)
c.2579G>T (p.Gly860Val)
c.2468G>T (p.Gly823Val)
c.2498G>T (p.Gly833Val)
c.2255G>T (p.Gly752Val)
3g.47848260C>ACA433608794DHX30c.2367C>A (p.Gly789=)
c.2283C>A (p.Gly761=)
c.*2267C>A (n.*2267C>A)
c.2451C>A (p.Gly817=)
n.484C>A
c.2250C>A (p.Gly750=)
c.2271C>A (p.Gly757=)
c.2580C>A (p.Gly860=)
c.2469C>A (p.Gly823=)
c.2499C>A (p.Gly833=)
c.2256C>A (p.Gly752=)
 COSMIC
3g.47848260C>GCA433608795DHX30c.2367C>G (p.Gly789=)
c.2283C>G (p.Gly761=)
c.*2267C>G (n.*2267C>G)
c.2451C>G (p.Gly817=)
n.484C>G
c.2250C>G (p.Gly750=)
c.2271C>G (p.Gly757=)
c.2580C>G (p.Gly860=)
c.2469C>G (p.Gly823=)
c.2499C>G (p.Gly833=)
c.2256C>G (p.Gly752=)
3g.47848260C>TCA433608796DHX30c.2367C>T (p.Gly789=)
c.2283C>T (p.Gly761=)
c.*2267C>T (n.*2267C>T)
c.2451C>T (p.Gly817=)
n.484C>T
c.2250C>T (p.Gly750=)
c.2271C>T (p.Gly757=)
c.2580C>T (p.Gly860=)
c.2469C>T (p.Gly823=)
c.2499C>T (p.Gly833=)
c.2256C>T (p.Gly752=)
3g.47848261T>ACA352590433DHX30c.2368T>A (p.Phe790Ile)
c.2284T>A (p.Phe762Ile)
c.*2268T>A (n.*2268T>A)
c.2452T>A (p.Phe818Ile)
n.485T>A
c.2251T>A (p.Phe751Ile)
c.2272T>A (p.Phe758Ile)
c.2581T>A (p.Phe861Ile)
c.2470T>A (p.Phe824Ile)
c.2500T>A (p.Phe834Ile)
c.2257T>A (p.Phe753Ile)
3g.47848261T>CCA352590434DHX30c.2368T>C (p.Phe790Leu)
c.2284T>C (p.Phe762Leu)
c.*2268T>C (n.*2268T>C)
c.2452T>C (p.Phe818Leu)
n.485T>C
c.2251T>C (p.Phe751Leu)
c.2272T>C (p.Phe758Leu)
c.2581T>C (p.Phe861Leu)
c.2470T>C (p.Phe824Leu)
c.2500T>C (p.Phe834Leu)
c.2257T>C (p.Phe753Leu)
3g.47848261T>GCA352590431DHX30c.2368T>G (p.Phe790Val)
c.2284T>G (p.Phe762Val)
c.*2268T>G (n.*2268T>G)
c.2452T>G (p.Phe818Val)
n.485T>G
c.2251T>G (p.Phe751Val)
c.2272T>G (p.Phe758Val)
c.2581T>G (p.Phe861Val)
c.2470T>G (p.Phe824Val)
c.2500T>G (p.Phe834Val)
c.2257T>G (p.Phe753Val)
3g.47848263delCA2839542392DHX30c.2370del (p.Phe790LeufsTer?)
c.2286del (p.Phe762LeufsTer?)
c.*2270del (n.*2270del)
c.2454del (p.Phe818LeufsTer?)
n.487del
c.2253del (p.Phe751LeufsTer?)
c.2274del (p.Phe758LeufsTer?)
c.2583del (p.Phe861LeufsTer?)
c.2472del (p.Phe824LeufsTer?)
c.2502del (p.Phe834LeufsTer?)
c.2259del (p.Phe753LeufsTer?)
3g.47848262T>ACA352590440DHX30c.2369T>A (p.Phe790Tyr)
c.2285T>A (p.Phe762Tyr)
c.*2269T>A (n.*2269T>A)
c.2453T>A (p.Phe818Tyr)
n.486T>A
c.2252T>A (p.Phe751Tyr)
c.2273T>A (p.Phe758Tyr)
c.2582T>A (p.Phe861Tyr)
c.2471T>A (p.Phe824Tyr)
c.2501T>A (p.Phe834Tyr)
c.2258T>A (p.Phe753Tyr)
3g.47848262T>CCA352590437DHX30c.2369T>C (p.Phe790Ser)
c.2285T>C (p.Phe762Ser)
c.*2269T>C (n.*2269T>C)
c.2453T>C (p.Phe818Ser)
n.486T>C
c.2252T>C (p.Phe751Ser)
c.2273T>C (p.Phe758Ser)
c.2582T>C (p.Phe861Ser)
c.2471T>C (p.Phe824Ser)
c.2501T>C (p.Phe834Ser)
c.2258T>C (p.Phe753Ser)
3g.47848262T>GCA352590439DHX30c.2369T>G (p.Phe790Cys)
c.2285T>G (p.Phe762Cys)
c.*2269T>G (n.*2269T>G)
c.2453T>G (p.Phe818Cys)
n.486T>G
c.2252T>G (p.Phe751Cys)
c.2273T>G (p.Phe758Cys)
c.2582T>G (p.Phe861Cys)
c.2471T>G (p.Phe824Cys)
c.2501T>G (p.Phe834Cys)
c.2258T>G (p.Phe753Cys)
3g.47848263T>ACA352590442DHX30c.2370T>A (p.Phe790Leu)
c.2286T>A (p.Phe762Leu)
c.*2270T>A (n.*2270T>A)
c.2454T>A (p.Phe818Leu)
n.487T>A
c.2253T>A (p.Phe751Leu)
c.2274T>A (p.Phe758Leu)
c.2583T>A (p.Phe861Leu)
c.2472T>A (p.Phe824Leu)
c.2502T>A (p.Phe834Leu)
c.2259T>A (p.Phe753Leu)
3g.47848263T>CCA433608800DHX30c.2370T>C (p.Phe790=)
c.2286T>C (p.Phe762=)
c.*2270T>C (n.*2270T>C)
c.2454T>C (p.Phe818=)
n.487T>C
c.2253T>C (p.Phe751=)
c.2274T>C (p.Phe758=)
c.2583T>C (p.Phe861=)
c.2472T>C (p.Phe824=)
c.2502T>C (p.Phe834=)
c.2259T>C (p.Phe753=)
3g.47848263T>GCA352590444DHX30c.2370T>G (p.Phe790Leu)
c.2286T>G (p.Phe762Leu)
c.*2270T>G (n.*2270T>G)
c.2454T>G (p.Phe818Leu)
n.487T>G
c.2253T>G (p.Phe751Leu)
c.2274T>G (p.Phe758Leu)
c.2583T>G (p.Phe861Leu)
c.2472T>G (p.Phe824Leu)
c.2502T>G (p.Phe834Leu)
c.2259T>G (p.Phe753Leu)
3g.47848264G>ACA352590446DHX30c.2371G>A (p.Ala791Thr)
c.2287G>A (p.Ala763Thr)
c.*2271G>A (n.*2271G>A)
c.2455G>A (p.Ala819Thr)
n.488G>A
c.2254G>A (p.Ala752Thr)
c.2275G>A (p.Ala759Thr)
c.2584G>A (p.Ala862Thr)
c.2473G>A (p.Ala825Thr)
c.2503G>A (p.Ala835Thr)
c.2260G>A (p.Ala754Thr)
 gnomAD v4
3g.47848264G>CCA352590449DHX30c.2371G>C (p.Ala791Pro)
c.2287G>C (p.Ala763Pro)
c.*2271G>C (n.*2271G>C)
c.2455G>C (p.Ala819Pro)
n.488G>C
c.2254G>C (p.Ala752Pro)
c.2275G>C (p.Ala759Pro)
c.2584G>C (p.Ala862Pro)
c.2473G>C (p.Ala825Pro)
c.2503G>C (p.Ala835Pro)
c.2260G>C (p.Ala754Pro)
3g.47848264G>TCA352590451DHX30c.2371G>T (p.Ala791Ser)
c.2287G>T (p.Ala763Ser)
c.*2271G>T (n.*2271G>T)
c.2455G>T (p.Ala819Ser)
n.488G>T
c.2254G>T (p.Ala752Ser)
c.2275G>T (p.Ala759Ser)
c.2584G>T (p.Ala862Ser)
c.2473G>T (p.Ala825Ser)
c.2503G>T (p.Ala835Ser)
c.2260G>T (p.Ala754Ser)
3g.47848265C>ACA352590453DHX30c.2372C>A (p.Ala791Asp)
c.2288C>A (p.Ala763Asp)
c.*2272C>A (n.*2272C>A)
c.2456C>A (p.Ala819Asp)
n.489C>A
c.2255C>A (p.Ala752Asp)
c.2276C>A (p.Ala759Asp)
c.2585C>A (p.Ala862Asp)
c.2474C>A (p.Ala825Asp)
c.2504C>A (p.Ala835Asp)
c.2261C>A (p.Ala754Asp)
3g.47848265C>GCA352590454DHX30c.2372C>G (p.Ala791Gly)
c.2288C>G (p.Ala763Gly)
c.*2272C>G (n.*2272C>G)
c.2456C>G (p.Ala819Gly)
n.489C>G
c.2255C>G (p.Ala752Gly)
c.2276C>G (p.Ala759Gly)
c.2585C>G (p.Ala862Gly)
c.2474C>G (p.Ala825Gly)
c.2504C>G (p.Ala835Gly)
c.2261C>G (p.Ala754Gly)
3g.47848265C>TCA352590457DHX30c.2372C>T (p.Ala791Val)
c.2288C>T (p.Ala763Val)
c.*2272C>T (n.*2272C>T)
c.2456C>T (p.Ala819Val)
n.489C>T
c.2255C>T (p.Ala752Val)
c.2276C>T (p.Ala759Val)
c.2585C>T (p.Ala862Val)
c.2474C>T (p.Ala825Val)
c.2504C>T (p.Ala835Val)
c.2261C>T (p.Ala754Val)
3g.47848266C>ACA433608802DHX30c.2373C>A (p.Ala791=)
c.2289C>A (p.Ala763=)
c.*2273C>A (n.*2273C>A)
c.2457C>A (p.Ala819=)
n.490C>A
c.2256C>A (p.Ala752=)
c.2277C>A (p.Ala759=)
c.2586C>A (p.Ala862=)
c.2475C>A (p.Ala825=)
c.2505C>A (p.Ala835=)
c.2262C>A (p.Ala754=)
3g.47848266C>GCA433608803DHX30c.2373C>G (p.Ala791=)
c.2289C>G (p.Ala763=)
c.*2273C>G (n.*2273C>G)
c.2457C>G (p.Ala819=)
n.490C>G
c.2256C>G (p.Ala752=)
c.2277C>G (p.Ala759=)
c.2586C>G (p.Ala862=)
c.2475C>G (p.Ala825=)
c.2505C>G (p.Ala835=)
c.2262C>G (p.Ala754=)
3g.47848266C>TCA433608804DHX30c.2373C>T (p.Ala791=)
c.2289C>T (p.Ala763=)
c.*2273C>T (n.*2273C>T)
c.2457C>T (p.Ala819=)
n.490C>T
c.2256C>T (p.Ala752=)
c.2277C>T (p.Ala759=)
c.2586C>T (p.Ala862=)
c.2475C>T (p.Ala825=)
c.2505C>T (p.Ala835=)
c.2262C>T (p.Ala754=)
 gnomAD v4
3g.47848267T>ACA352590459DHX30c.2374T>A (p.Tyr792Asn)
c.2290T>A (p.Tyr764Asn)
c.*2274T>A (n.*2274T>A)
c.2458T>A (p.Tyr820Asn)
n.491T>A
c.2257T>A (p.Tyr753Asn)
c.2278T>A (p.Tyr760Asn)
c.2587T>A (p.Tyr863Asn)
c.2476T>A (p.Tyr826Asn)
c.2506T>A (p.Tyr836Asn)
c.2263T>A (p.Tyr755Asn)
3g.47848267T>CCA352590461DHX30c.2374T>C (p.Tyr792His)
c.2290T>C (p.Tyr764His)
c.*2274T>C (n.*2274T>C)
c.2458T>C (p.Tyr820His)
n.491T>C
c.2257T>C (p.Tyr753His)
c.2278T>C (p.Tyr760His)
c.2587T>C (p.Tyr863His)
c.2476T>C (p.Tyr826His)
c.2506T>C (p.Tyr836His)
c.2263T>C (p.Tyr755His)
3g.47848267T>GCA352590463DHX30c.2374T>G (p.Tyr792Asp)
c.2290T>G (p.Tyr764Asp)
c.*2274T>G (n.*2274T>G)
c.2458T>G (p.Tyr820Asp)
n.491T>G
c.2257T>G (p.Tyr753Asp)
c.2278T>G (p.Tyr760Asp)
c.2587T>G (p.Tyr863Asp)
c.2476T>G (p.Tyr826Asp)
c.2506T>G (p.Tyr836Asp)
c.2263T>G (p.Tyr755Asp)
 COSMIC
3g.47848268A>CCA352590468DHX30c.2375A>C (p.Tyr792Ser)
c.2291A>C (p.Tyr764Ser)
c.*2275A>C (n.*2275A>C)
c.2459A>C (p.Tyr820Ser)
n.492A>C
c.2258A>C (p.Tyr753Ser)
c.2279A>C (p.Tyr760Ser)
c.2588A>C (p.Tyr863Ser)
c.2477A>C (p.Tyr826Ser)
c.2507A>C (p.Tyr836Ser)
c.2264A>C (p.Tyr755Ser)
3g.47848268A>GCA352590465DHX30c.2375A>G (p.Tyr792Cys)
c.2291A>G (p.Tyr764Cys)
c.*2275A>G (n.*2275A>G)
c.2459A>G (p.Tyr820Cys)
n.492A>G
c.2258A>G (p.Tyr753Cys)
c.2279A>G (p.Tyr760Cys)
c.2588A>G (p.Tyr863Cys)
c.2477A>G (p.Tyr826Cys)
c.2507A>G (p.Tyr836Cys)
c.2264A>G (p.Tyr755Cys)
3g.47848268A>TCA352590467DHX30c.2375A>T (p.Tyr792Phe)
c.2291A>T (p.Tyr764Phe)
c.*2275A>T (n.*2275A>T)
c.2459A>T (p.Tyr820Phe)
n.492A>T
c.2258A>T (p.Tyr753Phe)
c.2279A>T (p.Tyr760Phe)
c.2588A>T (p.Tyr863Phe)
c.2477A>T (p.Tyr826Phe)
c.2507A>T (p.Tyr836Phe)
c.2264A>T (p.Tyr755Phe)
3g.47848269C>ACA352590469DHX30c.2376C>A (p.Tyr792Ter)
c.2292C>A (p.Tyr764Ter)
c.*2276C>A (n.*2276C>A)
c.2460C>A (p.Tyr820Ter)
n.493C>A
c.2259C>A (p.Tyr753Ter)
c.2280C>A (p.Tyr760Ter)
c.2589C>A (p.Tyr863Ter)
c.2478C>A (p.Tyr826Ter)
c.2508C>A (p.Tyr836Ter)
c.2265C>A (p.Tyr755Ter)
3g.47848269C>GCA352590470DHX30c.2376C>G (p.Tyr792Ter)
c.2292C>G (p.Tyr764Ter)
c.*2276C>G (n.*2276C>G)
c.2460C>G (p.Tyr820Ter)
n.493C>G
c.2259C>G (p.Tyr753Ter)
c.2280C>G (p.Tyr760Ter)
c.2589C>G (p.Tyr863Ter)
c.2478C>G (p.Tyr826Ter)
c.2508C>G (p.Tyr836Ter)
c.2265C>G (p.Tyr755Ter)
3g.47848269C>TCA433608808DHX30c.2376C>T (p.Tyr792=)
c.2292C>T (p.Tyr764=)
c.*2276C>T (n.*2276C>T)
c.2460C>T (p.Tyr820=)
n.493C>T
c.2259C>T (p.Tyr753=)
c.2280C>T (p.Tyr760=)
c.2589C>T (p.Tyr863=)
c.2478C>T (p.Tyr826=)
c.2508C>T (p.Tyr836=)
c.2265C>T (p.Tyr755=)
3g.47848270C>ACA352590472DHX30c.2377C>A (p.His793Asn)
c.2293C>A (p.His765Asn)
c.*2277C>A (n.*2277C>A)
c.2461C>A (p.His821Asn)
n.494C>A
c.2260C>A (p.His754Asn)
c.2281C>A (p.His761Asn)
c.2590C>A (p.His864Asn)
c.2479C>A (p.His827Asn)
c.2509C>A (p.His837Asn)
c.2266C>A (p.His756Asn)
3g.47848270C>GCA352590473DHX30c.2377C>G (p.His793Asp)
c.2293C>G (p.His765Asp)
c.*2277C>G (n.*2277C>G)
c.2461C>G (p.His821Asp)
n.494C>G
c.2260C>G (p.His754Asp)
c.2281C>G (p.His761Asp)
c.2590C>G (p.His864Asp)
c.2479C>G (p.His827Asp)
c.2509C>G (p.His837Asp)
c.2266C>G (p.His756Asp)
3g.47848270C>TCA352590475DHX30c.2377C>T (p.His793Tyr)
c.2293C>T (p.His765Tyr)
c.*2277C>T (n.*2277C>T)
c.2461C>T (p.His821Tyr)
n.494C>T
c.2260C>T (p.His754Tyr)
c.2281C>T (p.His761Tyr)
c.2590C>T (p.His864Tyr)
c.2479C>T (p.His827Tyr)
c.2509C>T (p.His837Tyr)
c.2266C>T (p.His756Tyr)
 gnomAD v4
3g.47848271A>CCA352590478DHX30c.2378A>C (p.His793Pro)
c.2294A>C (p.His765Pro)
c.*2278A>C (n.*2278A>C)
c.2462A>C (p.His821Pro)
n.495A>C
c.2261A>C (p.His754Pro)
c.2282A>C (p.His761Pro)
c.2591A>C (p.His864Pro)
c.2480A>C (p.His827Pro)
c.2510A>C (p.His837Pro)
c.2267A>C (p.His756Pro)
3g.47848271A>GCA352590479DHX30c.2378A>G (p.His793Arg)
c.2294A>G (p.His765Arg)
c.*2278A>G (n.*2278A>G)
c.2462A>G (p.His821Arg)
n.495A>G
c.2261A>G (p.His754Arg)
c.2282A>G (p.His761Arg)
c.2591A>G (p.His864Arg)
c.2480A>G (p.His827Arg)
c.2510A>G (p.His837Arg)
c.2267A>G (p.His756Arg)
3g.47848271A>TCA352590480DHX30c.2378A>T (p.His793Leu)
c.2294A>T (p.His765Leu)
c.*2278A>T (n.*2278A>T)
c.2462A>T (p.His821Leu)
n.495A>T
c.2261A>T (p.His754Leu)
c.2282A>T (p.His761Leu)
c.2591A>T (p.His864Leu)
c.2480A>T (p.His827Leu)
c.2510A>T (p.His837Leu)
c.2267A>T (p.His756Leu)
3g.47848272C>ACA352590481DHX30c.2379C>A (p.His793Gln)
c.2295C>A (p.His765Gln)
c.*2279C>A (n.*2279C>A)
c.2463C>A (p.His821Gln)
n.496C>A
c.2262C>A (p.His754Gln)
c.2283C>A (p.His761Gln)
c.2592C>A (p.His864Gln)
c.2481C>A (p.His827Gln)
c.2511C>A (p.His837Gln)
c.2268C>A (p.His756Gln)
3g.47848272C>GCA352590483DHX30c.2379C>G (p.His793Gln)
c.2295C>G (p.His765Gln)
c.*2279C>G (n.*2279C>G)
c.2463C>G (p.His821Gln)
n.496C>G
c.2262C>G (p.His754Gln)
c.2283C>G (p.His761Gln)
c.2592C>G (p.His864Gln)
c.2481C>G (p.His827Gln)
c.2511C>G (p.His837Gln)
c.2268C>G (p.His756Gln)
3g.47848272C>TCA433608810DHX30c.2379C>T (p.His793=)
c.2295C>T (p.His765=)
c.*2279C>T (n.*2279C>T)
c.2463C>T (p.His821=)
n.496C>T
c.2262C>T (p.His754=)
c.2283C>T (p.His761=)
c.2592C>T (p.His864=)
c.2481C>T (p.His827=)
c.2511C>T (p.His837=)
c.2268C>T (p.His756=)
3g.47848273T>ACA352590485DHX30c.2380T>A (p.Leu794Met)
c.2296T>A (p.Leu766Met)
c.*2280T>A (n.*2280T>A)
c.2464T>A (p.Leu822Met)
n.497T>A
c.2263T>A (p.Leu755Met)
c.2284T>A (p.Leu762Met)
c.2593T>A (p.Leu865Met)
c.2482T>A (p.Leu828Met)
c.2512T>A (p.Leu838Met)
c.2269T>A (p.Leu757Met)
3g.47848273T>CCA433608811DHX30c.2380T>C (p.Leu794=)
c.2296T>C (p.Leu766=)
c.*2280T>C (n.*2280T>C)
c.2464T>C (p.Leu822=)
n.497T>C
c.2263T>C (p.Leu755=)
c.2284T>C (p.Leu762=)
c.2593T>C (p.Leu865=)
c.2482T>C (p.Leu828=)
c.2512T>C (p.Leu838=)
c.2269T>C (p.Leu757=)
3g.47848273T>GCA352590486DHX30c.2380T>G (p.Leu794Val)
c.2296T>G (p.Leu766Val)
c.*2280T>G (n.*2280T>G)
c.2464T>G (p.Leu822Val)
n.497T>G
c.2263T>G (p.Leu755Val)
c.2284T>G (p.Leu762Val)
c.2593T>G (p.Leu865Val)
c.2482T>G (p.Leu828Val)
c.2512T>G (p.Leu838Val)
c.2269T>G (p.Leu757Val)
3g.47848274T>ACA352590492DHX30c.2381T>A (p.Leu794Ter)
c.2297T>A (p.Leu766Ter)
c.*2281T>A (n.*2281T>A)
c.2465T>A (p.Leu822Ter)
n.498T>A
c.2264T>A (p.Leu755Ter)
c.2285T>A (p.Leu762Ter)
c.2594T>A (p.Leu865Ter)
c.2483T>A (p.Leu828Ter)
c.2513T>A (p.Leu838Ter)
c.2270T>A (p.Leu757Ter)
3g.47848274T>CCA352590489DHX30c.2381T>C (p.Leu794Ser)
c.2297T>C (p.Leu766Ser)
c.*2281T>C (n.*2281T>C)
c.2465T>C (p.Leu822Ser)
n.498T>C
c.2264T>C (p.Leu755Ser)
c.2285T>C (p.Leu762Ser)
c.2594T>C (p.Leu865Ser)
c.2483T>C (p.Leu828Ser)
c.2513T>C (p.Leu838Ser)
c.2270T>C (p.Leu757Ser)
3g.47848274T>GCA352590488DHX30c.2381T>G (p.Leu794Trp)
c.2297T>G (p.Leu766Trp)
c.*2281T>G (n.*2281T>G)
c.2465T>G (p.Leu822Trp)
n.498T>G
c.2264T>G (p.Leu755Trp)
c.2285T>G (p.Leu762Trp)
c.2594T>G (p.Leu865Trp)
c.2483T>G (p.Leu828Trp)
c.2513T>G (p.Leu838Trp)
c.2270T>G (p.Leu757Trp)
3g.47848275G>ACA433608813DHX30c.2382G>A (p.Leu794=)
c.2298G>A (p.Leu766=)
c.*2282G>A (n.*2282G>A)
c.2466G>A (p.Leu822=)
n.499G>A
c.2265G>A (p.Leu755=)
c.2286G>A (p.Leu762=)
c.2595G>A (p.Leu865=)
c.2484G>A (p.Leu828=)
c.2514G>A (p.Leu838=)
c.2271G>A (p.Leu757=)
3g.47848275G>CCA352590493DHX30c.2382G>C (p.Leu794Phe)
c.2298G>C (p.Leu766Phe)
c.*2282G>C (n.*2282G>C)
c.2466G>C (p.Leu822Phe)
n.499G>C
c.2265G>C (p.Leu755Phe)
c.2286G>C (p.Leu762Phe)
c.2595G>C (p.Leu865Phe)
c.2484G>C (p.Leu828Phe)
c.2514G>C (p.Leu838Phe)
c.2271G>C (p.Leu757Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.47848275G=CA1362750235DHX30c.2382G= (p.Leu794=)
c.2298G= (p.Leu766=)
c.*2282G= (n.*2282G=)
c.2466G= (p.Leu822=)
n.499G=
c.2265G= (p.Leu755=)
c.2286G= (p.Leu762=)
c.2595G= (p.Leu865=)
c.2484G= (p.Leu828=)
c.2514G= (p.Leu838=)
c.2271G= (p.Leu757=)
3g.47848275G>TCA2370116DHX30c.2382G>T (p.Leu794Phe)
c.2298G>T (p.Leu766Phe)
c.*2282G>T (n.*2282G>T)
c.2466G>T (p.Leu822Phe)
n.499G>T
c.2265G>T (p.Leu755Phe)
c.2286G>T (p.Leu762Phe)
c.2595G>T (p.Leu865Phe)
c.2484G>T (p.Leu828Phe)
c.2514G>T (p.Leu838Phe)
c.2271G>T (p.Leu757Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848276T>ACA352590497DHX30c.2383T>A (p.Phe795Ile)
c.2299T>A (p.Phe767Ile)
c.*2283T>A (n.*2283T>A)
c.2467T>A (p.Phe823Ile)
n.500T>A
c.2266T>A (p.Phe756Ile)
c.2287T>A (p.Phe763Ile)
c.2596T>A (p.Phe866Ile)
c.2485T>A (p.Phe829Ile)
c.2515T>A (p.Phe839Ile)
c.2272T>A (p.Phe758Ile)
3g.47848276T>CCA352590498DHX30c.2383T>C (p.Phe795Leu)
c.2299T>C (p.Phe767Leu)
c.*2283T>C (n.*2283T>C)
c.2467T>C (p.Phe823Leu)
n.500T>C
c.2266T>C (p.Phe756Leu)
c.2287T>C (p.Phe763Leu)
c.2596T>C (p.Phe866Leu)
c.2485T>C (p.Phe829Leu)
c.2515T>C (p.Phe839Leu)
c.2272T>C (p.Phe758Leu)
3g.47848276T>GCA352590500DHX30c.2383T>G (p.Phe795Val)
c.2299T>G (p.Phe767Val)
c.*2283T>G (n.*2283T>G)
c.2467T>G (p.Phe823Val)
n.500T>G
c.2266T>G (p.Phe756Val)
c.2287T>G (p.Phe763Val)
c.2596T>G (p.Phe866Val)
c.2485T>G (p.Phe829Val)
c.2515T>G (p.Phe839Val)
c.2272T>G (p.Phe758Val)
3g.47848277T>ACA352590507DHX30c.2384T>A (p.Phe795Tyr)
c.2300T>A (p.Phe767Tyr)
c.*2284T>A (n.*2284T>A)
c.2468T>A (p.Phe823Tyr)
n.501T>A
c.2267T>A (p.Phe756Tyr)
c.2288T>A (p.Phe763Tyr)
c.2597T>A (p.Phe866Tyr)
c.2486T>A (p.Phe829Tyr)
c.2516T>A (p.Phe839Tyr)
c.2273T>A (p.Phe758Tyr)
3g.47848277T>CCA352590505DHX30c.2384T>C (p.Phe795Ser)
c.2300T>C (p.Phe767Ser)
c.*2284T>C (n.*2284T>C)
c.2468T>C (p.Phe823Ser)
n.501T>C
c.2267T>C (p.Phe756Ser)
c.2288T>C (p.Phe763Ser)
c.2597T>C (p.Phe866Ser)
c.2486T>C (p.Phe829Ser)
c.2516T>C (p.Phe839Ser)
c.2273T>C (p.Phe758Ser)
3g.47848277T>GCA352590502DHX30c.2384T>G (p.Phe795Cys)
c.2300T>G (p.Phe767Cys)
c.*2284T>G (n.*2284T>G)
c.2468T>G (p.Phe823Cys)
n.501T>G
c.2267T>G (p.Phe756Cys)
c.2288T>G (p.Phe763Cys)
c.2597T>G (p.Phe866Cys)
c.2486T>G (p.Phe829Cys)
c.2516T>G (p.Phe839Cys)
c.2273T>G (p.Phe758Cys)
3g.47848278C>ACA352590509DHX30c.2385C>A (p.Phe795Leu)
c.2301C>A (p.Phe767Leu)
c.*2285C>A (n.*2285C>A)
c.2469C>A (p.Phe823Leu)
n.502C>A
c.2268C>A (p.Phe756Leu)
c.2289C>A (p.Phe763Leu)
c.2598C>A (p.Phe866Leu)
c.2487C>A (p.Phe829Leu)
c.2517C>A (p.Phe839Leu)
c.2274C>A (p.Phe758Leu)
3g.47848278C=CA1362750236DHX30c.2385C= (p.Phe795=)
c.2301C= (p.Phe767=)
c.*2285C= (n.*2285C=)
c.2469C= (p.Phe823=)
n.502C=
c.2268C= (p.Phe756=)
c.2289C= (p.Phe763=)
c.2598C= (p.Phe866=)
c.2487C= (p.Phe829=)
c.2517C= (p.Phe839=)
c.2274C= (p.Phe758=)
3g.47848278C>GCA352590511DHX30c.2385C>G (p.Phe795Leu)
c.2301C>G (p.Phe767Leu)
c.*2285C>G (n.*2285C>G)
c.2469C>G (p.Phe823Leu)
n.502C>G
c.2268C>G (p.Phe756Leu)
c.2289C>G (p.Phe763Leu)
c.2598C>G (p.Phe866Leu)
c.2487C>G (p.Phe829Leu)
c.2517C>G (p.Phe839Leu)
c.2274C>G (p.Phe758Leu)
3g.47848278C>TCA2370117DHX30c.2385C>T (p.Phe795=)
c.2301C>T (p.Phe767=)
c.*2285C>T (n.*2285C>T)
c.2469C>T (p.Phe823=)
n.502C>T
c.2268C>T (p.Phe756=)
c.2289C>T (p.Phe763=)
c.2598C>T (p.Phe866=)
c.2487C>T (p.Phe829=)
c.2517C>T (p.Phe839=)
c.2274C>T (p.Phe758=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848280dupCA2841435350DHX30c.2387dup (p.Arg797SerfsTer21)
c.2303dup (p.Arg769SerfsTer21)
c.*2287dup (n.*2287dup)
c.2471dup (p.Arg825SerfsTer21)
n.504dup
c.2270dup (p.Arg758SerfsTer21)
c.2291dup (p.Arg765SerfsTer21)
c.2600dup (p.Arg868SerfsTer21)
c.2489dup (p.Arg831SerfsTer21)
c.2519dup (p.Arg841SerfsTer21)
c.2276dup (p.Arg760SerfsTer21)
3g.47848279C>ACA352590514DHX30c.2386C>A (p.Pro796Thr)
c.2302C>A (p.Pro768Thr)
c.*2286C>A (n.*2286C>A)
c.2470C>A (p.Pro824Thr)
n.503C>A
c.2269C>A (p.Pro757Thr)
c.2290C>A (p.Pro764Thr)
c.2599C>A (p.Pro867Thr)
c.2488C>A (p.Pro830Thr)
c.2518C>A (p.Pro840Thr)
c.2275C>A (p.Pro759Thr)
3g.47848279C=CA1362750237DHX30c.2386C= (p.Pro796=)
c.2302C= (p.Pro768=)
c.*2286C= (n.*2286C=)
c.2470C= (p.Pro824=)
n.503C=
c.2269C= (p.Pro757=)
c.2290C= (p.Pro764=)
c.2599C= (p.Pro867=)
c.2488C= (p.Pro830=)
c.2518C= (p.Pro840=)
c.2275C= (p.Pro759=)
3g.47848279C>GCA352590516DHX30c.2386C>G (p.Pro796Ala)
c.2302C>G (p.Pro768Ala)
c.*2286C>G (n.*2286C>G)
c.2470C>G (p.Pro824Ala)
n.503C>G
c.2269C>G (p.Pro757Ala)
c.2290C>G (p.Pro764Ala)
c.2599C>G (p.Pro867Ala)
c.2488C>G (p.Pro830Ala)
c.2518C>G (p.Pro840Ala)
c.2275C>G (p.Pro759Ala)
3g.47848279C>TCA2370118DHX30c.2386C>T (p.Pro796Ser)
c.2302C>T (p.Pro768Ser)
c.*2286C>T (n.*2286C>T)
c.2470C>T (p.Pro824Ser)
n.503C>T
c.2269C>T (p.Pro757Ser)
c.2290C>T (p.Pro764Ser)
c.2599C>T (p.Pro867Ser)
c.2488C>T (p.Pro830Ser)
c.2518C>T (p.Pro840Ser)
c.2275C>T (p.Pro759Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848280C>ACA352590519DHX30c.2387C>A (p.Pro796His)
c.2303C>A (p.Pro768His)
c.*2287C>A (n.*2287C>A)
c.2471C>A (p.Pro824His)
n.504C>A
c.2270C>A (p.Pro757His)
c.2291C>A (p.Pro764His)
c.2600C>A (p.Pro867His)
c.2489C>A (p.Pro830His)
c.2519C>A (p.Pro840His)
c.2276C>A (p.Pro759His)
3g.47848280C=CA1362750238DHX30c.2387C= (p.Pro796=)
c.2303C= (p.Pro768=)
c.*2287C= (n.*2287C=)
c.2471C= (p.Pro824=)
n.504C=
c.2270C= (p.Pro757=)
c.2291C= (p.Pro764=)
c.2600C= (p.Pro867=)
c.2489C= (p.Pro830=)
c.2519C= (p.Pro840=)
c.2276C= (p.Pro759=)
3g.47848280C>GCA352590523DHX30c.2387C>G (p.Pro796Arg)
c.2303C>G (p.Pro768Arg)
c.*2287C>G (n.*2287C>G)
c.2471C>G (p.Pro824Arg)
n.504C>G
c.2270C>G (p.Pro757Arg)
c.2291C>G (p.Pro764Arg)
c.2600C>G (p.Pro867Arg)
c.2489C>G (p.Pro830Arg)
c.2519C>G (p.Pro840Arg)
c.2276C>G (p.Pro759Arg)
 ClinVar dbSNP
3g.47848280C>TCA352590521DHX30c.2387C>T (p.Pro796Leu)
c.2303C>T (p.Pro768Leu)
c.*2287C>T (n.*2287C>T)
c.2471C>T (p.Pro824Leu)
n.504C>T
c.2270C>T (p.Pro757Leu)
c.2291C>T (p.Pro764Leu)
c.2600C>T (p.Pro867Leu)
c.2489C>T (p.Pro830Leu)
c.2519C>T (p.Pro840Leu)
c.2276C>T (p.Pro759Leu)
 gnomAD v4
3g.47848281_47848282delCA2525524566DHX30c.2388_2389del (p.Arg797LysfsTer20)
c.2304_2305del (p.Arg769LysfsTer20)
c.*2288_*2289del (n.*2288_*2289del)
c.2472_2473del (p.Arg825LysfsTer20)
n.505_506del
c.2271_2272del (p.Arg758LysfsTer20)
c.2292_2293del (p.Arg765LysfsTer20)
c.2601_2602del (p.Arg868LysfsTer20)
c.2490_2491del (p.Arg831LysfsTer20)
c.2520_2521del (p.Arg841LysfsTer20)
c.2277_2278del (p.Arg760LysfsTer20)
3g.47848281T>ACA433608815DHX30c.2388T>A (p.Pro796=)
c.2304T>A (p.Pro768=)
c.*2288T>A (n.*2288T>A)
c.2472T>A (p.Pro824=)
n.505T>A
c.2271T>A (p.Pro757=)
c.2292T>A (p.Pro764=)
c.2601T>A (p.Pro867=)
c.2490T>A (p.Pro830=)
c.2520T>A (p.Pro840=)
c.2277T>A (p.Pro759=)
3g.47848281T>CCA433608816DHX30c.2388T>C (p.Pro796=)
c.2304T>C (p.Pro768=)
c.*2288T>C (n.*2288T>C)
c.2472T>C (p.Pro824=)
n.505T>C
c.2271T>C (p.Pro757=)
c.2292T>C (p.Pro764=)
c.2601T>C (p.Pro867=)
c.2490T>C (p.Pro830=)
c.2520T>C (p.Pro840=)
c.2277T>C (p.Pro759=)
3g.47848281T>GCA433608817DHX30c.2388T>G (p.Pro796=)
c.2304T>G (p.Pro768=)
c.*2288T>G (n.*2288T>G)
c.2472T>G (p.Pro824=)
n.505T>G
c.2271T>G (p.Pro757=)
c.2292T>G (p.Pro764=)
c.2601T>G (p.Pro867=)
c.2490T>G (p.Pro830=)
c.2520T>G (p.Pro840=)
c.2277T>G (p.Pro759=)
3g.47848282C>ACA433608818DHX30c.2389C>A (p.Arg797=)
c.2305C>A (p.Arg769=)
c.*2289C>A (n.*2289C>A)
c.2473C>A (p.Arg825=)
n.506C>A
c.2272C>A (p.Arg758=)
c.2293C>A (p.Arg765=)
c.2602C>A (p.Arg868=)
c.2491C>A (p.Arg831=)
c.2521C>A (p.Arg841=)
c.2278C>A (p.Arg760=)
 dbSNP gnomAD v3 gnomAD v4
3g.47848282C=CA1362750239DHX30c.2389C= (p.Arg797=)
c.2305C= (p.Arg769=)
c.*2289C= (n.*2289C=)
c.2473C= (p.Arg825=)
n.506C=
c.2272C= (p.Arg758=)
c.2293C= (p.Arg765=)
c.2602C= (p.Arg868=)
c.2491C= (p.Arg831=)
c.2521C= (p.Arg841=)
c.2278C= (p.Arg760=)
3g.47848282C>GCA352590526DHX30c.2389C>G (p.Arg797Gly)
c.2305C>G (p.Arg769Gly)
c.*2289C>G (n.*2289C>G)
c.2473C>G (p.Arg825Gly)
n.506C>G
c.2272C>G (p.Arg758Gly)
c.2293C>G (p.Arg765Gly)
c.2602C>G (p.Arg868Gly)
c.2491C>G (p.Arg831Gly)
c.2521C>G (p.Arg841Gly)
c.2278C>G (p.Arg760Gly)
3g.47848282C>TCA352590527DHX30c.2389C>T (p.Arg797Ter)
c.2305C>T (p.Arg769Ter)
c.*2289C>T (n.*2289C>T)
c.2473C>T (p.Arg825Ter)
n.506C>T
c.2272C>T (p.Arg758Ter)
c.2293C>T (p.Arg765Ter)
c.2602C>T (p.Arg868Ter)
c.2491C>T (p.Arg831Ter)
c.2521C>T (p.Arg841Ter)
c.2278C>T (p.Arg760Ter)
 ClinVar gnomAD v4 COSMIC
3g.47848283G>ACA2370119DHX30c.2390G>A (p.Arg797Gln)
c.2306G>A (p.Arg769Gln)
c.*2290G>A (n.*2290G>A)
c.2474G>A (p.Arg825Gln)
n.507G>A
c.2273G>A (p.Arg758Gln)
c.2294G>A (p.Arg765Gln)
c.2603G>A (p.Arg868Gln)
c.2492G>A (p.Arg831Gln)
c.2522G>A (p.Arg841Gln)
c.2279G>A (p.Arg760Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.47848283G>CCA352590531DHX30c.2390G>C (p.Arg797Pro)
c.2306G>C (p.Arg769Pro)
c.*2290G>C (n.*2290G>C)
c.2474G>C (p.Arg825Pro)
n.507G>C
c.2273G>C (p.Arg758Pro)
c.2294G>C (p.Arg765Pro)
c.2603G>C (p.Arg868Pro)
c.2492G>C (p.Arg831Pro)
c.2522G>C (p.Arg841Pro)
c.2279G>C (p.Arg760Pro)
3g.47848283G=CA1362750240DHX30c.2390G= (p.Arg797=)
c.2306G= (p.Arg769=)
c.*2290G= (n.*2290G=)
c.2474G= (p.Arg825=)
n.507G=
c.2273G= (p.Arg758=)
c.2294G= (p.Arg765=)
c.2603G= (p.Arg868=)
c.2492G= (p.Arg831=)
c.2522G= (p.Arg841=)
c.2279G= (p.Arg760=)
3g.47848283G>TCA352590532DHX30c.2390G>T (p.Arg797Leu)
c.2306G>T (p.Arg769Leu)
c.*2290G>T (n.*2290G>T)
c.2474G>T (p.Arg825Leu)
n.507G>T
c.2273G>T (p.Arg758Leu)
c.2294G>T (p.Arg765Leu)
c.2603G>T (p.Arg868Leu)
c.2492G>T (p.Arg831Leu)
c.2522G>T (p.Arg841Leu)
c.2279G>T (p.Arg760Leu)
 gnomAD v4
3g.47848284A>CCA433608819DHX30c.2391A>C (p.Arg797=)
c.2307A>C (p.Arg769=)
c.*2291A>C (n.*2291A>C)
c.2475A>C (p.Arg825=)
n.508A>C
c.2274A>C (p.Arg758=)
c.2295A>C (p.Arg765=)
c.2604A>C (p.Arg868=)
c.2493A>C (p.Arg831=)
c.2523A>C (p.Arg841=)
c.2280A>C (p.Arg760=)
3g.47848284A>GCA433608820DHX30c.2391A>G (p.Arg797=)
c.2307A>G (p.Arg769=)
c.*2291A>G (n.*2291A>G)
c.2475A>G (p.Arg825=)
n.508A>G
c.2274A>G (p.Arg758=)
c.2295A>G (p.Arg765=)
c.2604A>G (p.Arg868=)
c.2493A>G (p.Arg831=)
c.2523A>G (p.Arg841=)
c.2280A>G (p.Arg760=)
3g.47848284A>TCA433608821DHX30c.2391A>T (p.Arg797=)
c.2307A>T (p.Arg769=)
c.*2291A>T (n.*2291A>T)
c.2475A>T (p.Arg825=)
n.508A>T
c.2274A>T (p.Arg758=)
c.2295A>T (p.Arg765=)
c.2604A>T (p.Arg868=)
c.2493A>T (p.Arg831=)
c.2523A>T (p.Arg841=)
c.2280A>T (p.Arg760=)
3g.47848284_47848285insGGCA2567120192DHX30c.2391_2392insGG (p.Ser798GlyfsTer?)
c.2307_2308insGG (p.Ser770GlyfsTer?)
c.*2291_*2292insGG (n.*2291_*2292insGG)
c.2475_2476insGG (p.Ser826GlyfsTer?)
n.508_509insGG
c.2274_2275insGG (p.Ser759GlyfsTer?)
c.2295_2296insGG (p.Ser766GlyfsTer?)
c.2604_2605insGG (p.Ser869GlyfsTer?)
c.2493_2494insGG (p.Ser832GlyfsTer?)
c.2523_2524insGG (p.Ser842GlyfsTer?)
c.2280_2281insGG (p.Ser761GlyfsTer?)
3g.47848285A>CCA352590534DHX30c.2392A>C (p.Ser798Arg)
c.2308A>C (p.Ser770Arg)
c.*2292A>C (n.*2292A>C)
c.2476A>C (p.Ser826Arg)
n.509A>C
c.2275A>C (p.Ser759Arg)
c.2296A>C (p.Ser766Arg)
c.2605A>C (p.Ser869Arg)
c.2494A>C (p.Ser832Arg)
c.2524A>C (p.Ser842Arg)
c.2281A>C (p.Ser761Arg)
3g.47848285A>GCA352590536DHX30c.2392A>G (p.Ser798Gly)
c.2308A>G (p.Ser770Gly)
c.*2292A>G (n.*2292A>G)
c.2476A>G (p.Ser826Gly)
n.509A>G
c.2275A>G (p.Ser759Gly)
c.2296A>G (p.Ser766Gly)
c.2605A>G (p.Ser869Gly)
c.2494A>G (p.Ser832Gly)
c.2524A>G (p.Ser842Gly)
c.2281A>G (p.Ser761Gly)
3g.47848285A>TCA352590537DHX30c.2392A>T (p.Ser798Cys)
c.2308A>T (p.Ser770Cys)
c.*2292A>T (n.*2292A>T)
c.2476A>T (p.Ser826Cys)
n.509A>T
c.2275A>T (p.Ser759Cys)
c.2296A>T (p.Ser766Cys)
c.2605A>T (p.Ser869Cys)
c.2494A>T (p.Ser832Cys)
c.2524A>T (p.Ser842Cys)
c.2281A>T (p.Ser761Cys)
3g.47848286G>ACA2370120DHX30c.2393G>A (p.Ser798Asn)
c.2309G>A (p.Ser770Asn)
c.*2293G>A (n.*2293G>A)
c.2477G>A (p.Ser826Asn)
n.510G>A
c.2276G>A (p.Ser759Asn)
c.2297G>A (p.Ser766Asn)
c.2606G>A (p.Ser869Asn)
c.2495G>A (p.Ser832Asn)
c.2525G>A (p.Ser842Asn)
c.2282G>A (p.Ser761Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848286G>CCA352590540DHX30c.2393G>C (p.Ser798Thr)
c.2309G>C (p.Ser770Thr)
c.*2293G>C (n.*2293G>C)
c.2477G>C (p.Ser826Thr)
n.510G>C
c.2276G>C (p.Ser759Thr)
c.2297G>C (p.Ser766Thr)
c.2606G>C (p.Ser869Thr)
c.2495G>C (p.Ser832Thr)
c.2525G>C (p.Ser842Thr)
c.2282G>C (p.Ser761Thr)
3g.47848286G=CA1362750241DHX30c.2393G= (p.Ser798=)
c.2309G= (p.Ser770=)
c.*2293G= (n.*2293G=)
c.2477G= (p.Ser826=)
n.510G=
c.2276G= (p.Ser759=)
c.2297G= (p.Ser766=)
c.2606G= (p.Ser869=)
c.2495G= (p.Ser832=)
c.2525G= (p.Ser842=)
c.2282G= (p.Ser761=)
3g.47848286G>TCA352590542DHX30c.2393G>T (p.Ser798Ile)
c.2309G>T (p.Ser770Ile)
c.*2293G>T (n.*2293G>T)
c.2477G>T (p.Ser826Ile)
n.510G>T
c.2276G>T (p.Ser759Ile)
c.2297G>T (p.Ser766Ile)
c.2606G>T (p.Ser869Ile)
c.2495G>T (p.Ser832Ile)
c.2525G>T (p.Ser842Ile)
c.2282G>T (p.Ser761Ile)
3g.47848287C>ACA352590547DHX30c.2394C>A (p.Ser798Arg)
c.2310C>A (p.Ser770Arg)
c.*2294C>A (n.*2294C>A)
c.2478C>A (p.Ser826Arg)
n.511C>A
c.2277C>A (p.Ser759Arg)
c.2298C>A (p.Ser766Arg)
c.2607C>A (p.Ser869Arg)
c.2496C>A (p.Ser832Arg)
c.2526C>A (p.Ser842Arg)
c.2283C>A (p.Ser761Arg)
 gnomAD v4
3g.47848287C=CA1362750242DHX30c.2394C= (p.Ser798=)
c.2310C= (p.Ser770=)
c.*2294C= (n.*2294C=)
c.2478C= (p.Ser826=)
n.511C=
c.2277C= (p.Ser759=)
c.2298C= (p.Ser766=)
c.2607C= (p.Ser869=)
c.2496C= (p.Ser832=)
c.2526C= (p.Ser842=)
c.2283C= (p.Ser761=)
3g.47848287C>GCA352590545DHX30c.2394C>G (p.Ser798Arg)
c.2310C>G (p.Ser770Arg)
c.*2294C>G (n.*2294C>G)
c.2478C>G (p.Ser826Arg)
n.511C>G
c.2277C>G (p.Ser759Arg)
c.2298C>G (p.Ser766Arg)
c.2607C>G (p.Ser869Arg)
c.2496C>G (p.Ser832Arg)
c.2526C>G (p.Ser842Arg)
c.2283C>G (p.Ser761Arg)
3g.47848287C>TCA2370121DHX30c.2394C>T (p.Ser798=)
c.2310C>T (p.Ser770=)
c.*2294C>T (n.*2294C>T)
c.2478C>T (p.Ser826=)
n.511C>T
c.2277C>T (p.Ser759=)
c.2298C>T (p.Ser766=)
c.2607C>T (p.Ser869=)
c.2496C>T (p.Ser832=)
c.2526C>T (p.Ser842=)
c.2283C>T (p.Ser761=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848288C>ACA433608822DHX30c.2395C>A (p.Arg799=)
c.2311C>A (p.Arg771=)
c.*2295C>A (n.*2295C>A)
c.2479C>A (p.Arg827=)
n.512C>A
c.2278C>A (p.Arg760=)
c.2299C>A (p.Arg767=)
c.2608C>A (p.Arg870=)
c.2497C>A (p.Arg833=)
c.2527C>A (p.Arg843=)
c.2284C>A (p.Arg762=)
3g.47848288C>GCA352590548DHX30c.2395C>G (p.Arg799Gly)
c.2311C>G (p.Arg771Gly)
c.*2295C>G (n.*2295C>G)
c.2479C>G (p.Arg827Gly)
n.512C>G
c.2278C>G (p.Arg760Gly)
c.2299C>G (p.Arg767Gly)
c.2608C>G (p.Arg870Gly)
c.2497C>G (p.Arg833Gly)
c.2527C>G (p.Arg843Gly)
c.2284C>G (p.Arg762Gly)
3g.47848288C>TCA352590550DHX30c.2395C>T (p.Arg799Trp)
c.2311C>T (p.Arg771Trp)
c.*2295C>T (n.*2295C>T)
c.2479C>T (p.Arg827Trp)
n.512C>T
c.2278C>T (p.Arg760Trp)
c.2299C>T (p.Arg767Trp)
c.2608C>T (p.Arg870Trp)
c.2497C>T (p.Arg833Trp)
c.2527C>T (p.Arg843Trp)
c.2284C>T (p.Arg762Trp)
 dbSNP gnomAD v4
3g.47848289G>ACA352590553DHX30c.2396G>A (p.Arg799Gln)
c.2312G>A (p.Arg771Gln)
c.*2296G>A (n.*2296G>A)
c.2480G>A (p.Arg827Gln)
n.513G>A
c.2279G>A (p.Arg760Gln)
c.2300G>A (p.Arg767Gln)
c.2609G>A (p.Arg870Gln)
c.2498G>A (p.Arg833Gln)
c.2528G>A (p.Arg843Gln)
c.2285G>A (p.Arg762Gln)
3g.47848289G>CCA352590556DHX30c.2396G>C (p.Arg799Pro)
c.2312G>C (p.Arg771Pro)
c.*2296G>C (n.*2296G>C)
c.2480G>C (p.Arg827Pro)
n.513G>C
c.2279G>C (p.Arg760Pro)
c.2300G>C (p.Arg767Pro)
c.2609G>C (p.Arg870Pro)
c.2498G>C (p.Arg833Pro)
c.2528G>C (p.Arg843Pro)
c.2285G>C (p.Arg762Pro)
3g.47848289G>TCA352590554DHX30c.2396G>T (p.Arg799Leu)
c.2312G>T (p.Arg771Leu)
c.*2296G>T (n.*2296G>T)
c.2480G>T (p.Arg827Leu)
n.513G>T
c.2279G>T (p.Arg760Leu)
c.2300G>T (p.Arg767Leu)
c.2609G>T (p.Arg870Leu)
c.2498G>T (p.Arg833Leu)
c.2528G>T (p.Arg843Leu)
c.2285G>T (p.Arg762Leu)
3g.47848290G>ACA433608823DHX30c.2397G>A (p.Arg799=)
c.2313G>A (p.Arg771=)
c.*2297G>A (n.*2297G>A)
c.2481G>A (p.Arg827=)
n.514G>A
c.2280G>A (p.Arg760=)
c.2301G>A (p.Arg767=)
c.2610G>A (p.Arg870=)
c.2499G>A (p.Arg833=)
c.2529G>A (p.Arg843=)
c.2286G>A (p.Arg762=)
 COSMIC
3g.47848290G>CCA433608824DHX30c.2397G>C (p.Arg799=)
c.2313G>C (p.Arg771=)
c.*2297G>C (n.*2297G>C)
c.2481G>C (p.Arg827=)
n.514G>C
c.2280G>C (p.Arg760=)
c.2301G>C (p.Arg767=)
c.2610G>C (p.Arg870=)
c.2499G>C (p.Arg833=)
c.2529G>C (p.Arg843=)
c.2286G>C (p.Arg762=)
3g.47848290G>TCA433608825DHX30c.2397G>T (p.Arg799=)
c.2313G>T (p.Arg771=)
c.*2297G>T (n.*2297G>T)
c.2481G>T (p.Arg827=)
n.514G>T
c.2280G>T (p.Arg760=)
c.2301G>T (p.Arg767=)
c.2610G>T (p.Arg870=)
c.2499G>T (p.Arg833=)
c.2529G>T (p.Arg843=)
c.2286G>T (p.Arg762=)
3g.47848291C>ACA352590558DHX30c.2398C>A (p.Leu800Met)
c.2314C>A (p.Leu772Met)
c.*2298C>A (n.*2298C>A)
c.2482C>A (p.Leu828Met)
n.515C>A
c.2281C>A (p.Leu761Met)
c.2302C>A (p.Leu768Met)
c.2611C>A (p.Leu871Met)
c.2500C>A (p.Leu834Met)
c.2530C>A (p.Leu844Met)
c.2287C>A (p.Leu763Met)
3g.47848291C>GCA352590560DHX30c.2398C>G (p.Leu800Val)
c.2314C>G (p.Leu772Val)
c.*2298C>G (n.*2298C>G)
c.2482C>G (p.Leu828Val)
n.515C>G
c.2281C>G (p.Leu761Val)
c.2302C>G (p.Leu768Val)
c.2611C>G (p.Leu871Val)
c.2500C>G (p.Leu834Val)
c.2530C>G (p.Leu844Val)
c.2287C>G (p.Leu763Val)
3g.47848291C>TCA433608826DHX30c.2398C>T (p.Leu800=)
c.2314C>T (p.Leu772=)
c.*2298C>T (n.*2298C>T)
c.2482C>T (p.Leu828=)
n.515C>T
c.2281C>T (p.Leu761=)
c.2302C>T (p.Leu768=)
c.2611C>T (p.Leu871=)
c.2500C>T (p.Leu834=)
c.2530C>T (p.Leu844=)
c.2287C>T (p.Leu763=)
3g.47848292T>ACA352590561DHX30c.2399T>A (p.Leu800Gln)
c.2315T>A (p.Leu772Gln)
c.*2299T>A (n.*2299T>A)
c.2483T>A (p.Leu828Gln)
n.516T>A
c.2282T>A (p.Leu761Gln)
c.2303T>A (p.Leu768Gln)
c.2612T>A (p.Leu871Gln)
c.2501T>A (p.Leu834Gln)
c.2531T>A (p.Leu844Gln)
c.2288T>A (p.Leu763Gln)
3g.47848292T>CCA352590564DHX30c.2399T>C (p.Leu800Pro)
c.2315T>C (p.Leu772Pro)
c.*2299T>C (n.*2299T>C)
c.2483T>C (p.Leu828Pro)
n.516T>C
c.2282T>C (p.Leu761Pro)
c.2303T>C (p.Leu768Pro)
c.2612T>C (p.Leu871Pro)
c.2501T>C (p.Leu834Pro)
c.2531T>C (p.Leu844Pro)
c.2288T>C (p.Leu763Pro)
3g.47848292T>GCA352590563DHX30c.2399T>G (p.Leu800Arg)
c.2315T>G (p.Leu772Arg)
c.*2299T>G (n.*2299T>G)
c.2483T>G (p.Leu828Arg)
n.516T>G
c.2282T>G (p.Leu761Arg)
c.2303T>G (p.Leu768Arg)
c.2612T>G (p.Leu871Arg)
c.2501T>G (p.Leu834Arg)
c.2531T>G (p.Leu844Arg)
c.2288T>G (p.Leu763Arg)
3g.47848293G>ACA73899305DHX30c.2400G>A (p.Leu800=)
c.2316G>A (p.Leu772=)
c.*2300G>A (n.*2300G>A)
c.2484G>A (p.Leu828=)
n.517G>A
c.2283G>A (p.Leu761=)
c.2304G>A (p.Leu768=)
c.2613G>A (p.Leu871=)
c.2502G>A (p.Leu834=)
c.2532G>A (p.Leu844=)
c.2289G>A (p.Leu763=)
 dbSNP gnomAD v4
3g.47848293G>CCA433608828DHX30c.2400G>C (p.Leu800=)
c.2316G>C (p.Leu772=)
c.*2300G>C (n.*2300G>C)
c.2484G>C (p.Leu828=)
n.517G>C
c.2283G>C (p.Leu761=)
c.2304G>C (p.Leu768=)
c.2613G>C (p.Leu871=)
c.2502G>C (p.Leu834=)
c.2532G>C (p.Leu844=)
c.2289G>C (p.Leu763=)
3g.47848293G=CA1362750243DHX30c.2400G= (p.Leu800=)
c.2316G= (p.Leu772=)
c.*2300G= (n.*2300G=)
c.2484G= (p.Leu828=)
n.517G=
c.2283G= (p.Leu761=)
c.2304G= (p.Leu768=)
c.2613G= (p.Leu871=)
c.2502G= (p.Leu834=)
c.2532G= (p.Leu844=)
c.2289G= (p.Leu763=)
3g.47848293G>TCA433608827DHX30c.2400G>T (p.Leu800=)
c.2316G>T (p.Leu772=)
c.*2300G>T (n.*2300G>T)
c.2484G>T (p.Leu828=)
n.517G>T
c.2283G>T (p.Leu761=)
c.2304G>T (p.Leu768=)
c.2613G>T (p.Leu871=)
c.2502G>T (p.Leu834=)
c.2532G>T (p.Leu844=)
c.2289G>T (p.Leu763=)
3g.47848294G>ACA352590566DHX30c.2401G>A (p.Glu801Lys)
c.2317G>A (p.Glu773Lys)
c.*2301G>A (n.*2301G>A)
c.2485G>A (p.Glu829Lys)
n.518G>A
c.2284G>A (p.Glu762Lys)
c.2305G>A (p.Glu769Lys)
c.2614G>A (p.Glu872Lys)
c.2503G>A (p.Glu835Lys)
c.2533G>A (p.Glu845Lys)
c.2290G>A (p.Glu764Lys)
 dbSNP
3g.47848294G>CCA352590568DHX30c.2401G>C (p.Glu801Gln)
c.2317G>C (p.Glu773Gln)
c.*2301G>C (n.*2301G>C)
c.2485G>C (p.Glu829Gln)
n.518G>C
c.2284G>C (p.Glu762Gln)
c.2305G>C (p.Glu769Gln)
c.2614G>C (p.Glu872Gln)
c.2503G>C (p.Glu835Gln)
c.2533G>C (p.Glu845Gln)
c.2290G>C (p.Glu764Gln)
 COSMIC
3g.47848294G=CA1362750244DHX30c.2401G= (p.Glu801=)
c.2317G= (p.Glu773=)
c.*2301G= (n.*2301G=)
c.2485G= (p.Glu829=)
n.518G=
c.2284G= (p.Glu762=)
c.2305G= (p.Glu769=)
c.2614G= (p.Glu872=)
c.2503G= (p.Glu835=)
c.2533G= (p.Glu845=)
c.2290G= (p.Glu764=)
3g.47848294G>TCA352590570DHX30c.2401G>T (p.Glu801Ter)
c.2317G>T (p.Glu773Ter)
c.*2301G>T (n.*2301G>T)
c.2485G>T (p.Glu829Ter)
n.518G>T
c.2284G>T (p.Glu762Ter)
c.2305G>T (p.Glu769Ter)
c.2614G>T (p.Glu872Ter)
c.2503G>T (p.Glu835Ter)
c.2533G>T (p.Glu845Ter)
c.2290G>T (p.Glu764Ter)
3g.47848295A>CCA352590572DHX30c.2402A>C (p.Glu801Ala)
c.2318A>C (p.Glu773Ala)
c.*2302A>C (n.*2302A>C)
c.2486A>C (p.Glu829Ala)
n.519A>C
c.2285A>C (p.Glu762Ala)
c.2306A>C (p.Glu769Ala)
c.2615A>C (p.Glu872Ala)
c.2504A>C (p.Glu835Ala)
c.2534A>C (p.Glu845Ala)
c.2291A>C (p.Glu764Ala)
3g.47848295A>GCA352590574DHX30c.2402A>G (p.Glu801Gly)
c.2318A>G (p.Glu773Gly)
c.*2302A>G (n.*2302A>G)
c.2486A>G (p.Glu829Gly)
n.519A>G
c.2285A>G (p.Glu762Gly)
c.2306A>G (p.Glu769Gly)
c.2615A>G (p.Glu872Gly)
c.2504A>G (p.Glu835Gly)
c.2534A>G (p.Glu845Gly)
c.2291A>G (p.Glu764Gly)
3g.47848295A>TCA352590576DHX30c.2402A>T (p.Glu801Val)
c.2318A>T (p.Glu773Val)
c.*2302A>T (n.*2302A>T)
c.2486A>T (p.Glu829Val)
n.519A>T
c.2285A>T (p.Glu762Val)
c.2306A>T (p.Glu769Val)
c.2615A>T (p.Glu872Val)
c.2504A>T (p.Glu835Val)
c.2534A>T (p.Glu845Val)
c.2291A>T (p.Glu764Val)
3g.47848296G>ACA433608829DHX30c.2403G>A (p.Glu801=)
c.2319G>A (p.Glu773=)
c.*2303G>A (n.*2303G>A)
c.2487G>A (p.Glu829=)
n.520G>A
c.2286G>A (p.Glu762=)
c.2307G>A (p.Glu769=)
c.2616G>A (p.Glu872=)
c.2505G>A (p.Glu835=)
c.2535G>A (p.Glu845=)
c.2292G>A (p.Glu764=)
3g.47848296G>CCA352590577DHX30c.2403G>C (p.Glu801Asp)
c.2319G>C (p.Glu773Asp)
c.*2303G>C (n.*2303G>C)
c.2487G>C (p.Glu829Asp)
n.520G>C
c.2286G>C (p.Glu762Asp)
c.2307G>C (p.Glu769Asp)
c.2616G>C (p.Glu872Asp)
c.2505G>C (p.Glu835Asp)
c.2535G>C (p.Glu845Asp)
c.2292G>C (p.Glu764Asp)
3g.47848296G>TCA352590578DHX30c.2403G>T (p.Glu801Asp)
c.2319G>T (p.Glu773Asp)
c.*2303G>T (n.*2303G>T)
c.2487G>T (p.Glu829Asp)
n.520G>T
c.2286G>T (p.Glu762Asp)
c.2307G>T (p.Glu769Asp)
c.2616G>T (p.Glu872Asp)
c.2505G>T (p.Glu835Asp)
c.2535G>T (p.Glu845Asp)
c.2292G>T (p.Glu764Asp)
 COSMIC
3g.47848297A>CCA352590580DHX30c.2404A>C (p.Lys802Gln)
c.2320A>C (p.Lys774Gln)
c.*2304A>C (n.*2304A>C)
c.2488A>C (p.Lys830Gln)
n.521A>C
c.2287A>C (p.Lys763Gln)
c.2308A>C (p.Lys770Gln)
c.2617A>C (p.Lys873Gln)
c.2506A>C (p.Lys836Gln)
c.2536A>C (p.Lys846Gln)
c.2293A>C (p.Lys765Gln)
3g.47848297A>GCA352590582DHX30c.2404A>G (p.Lys802Glu)
c.2320A>G (p.Lys774Glu)
c.*2304A>G (n.*2304A>G)
c.2488A>G (p.Lys830Glu)
n.521A>G
c.2287A>G (p.Lys763Glu)
c.2308A>G (p.Lys770Glu)
c.2617A>G (p.Lys873Glu)
c.2506A>G (p.Lys836Glu)
c.2536A>G (p.Lys846Glu)
c.2293A>G (p.Lys765Glu)
3g.47848297A>TCA352590584DHX30c.2404A>T (p.Lys802Ter)
c.2320A>T (p.Lys774Ter)
c.*2304A>T (n.*2304A>T)
c.2488A>T (p.Lys830Ter)
n.521A>T
c.2287A>T (p.Lys763Ter)
c.2308A>T (p.Lys770Ter)
c.2617A>T (p.Lys873Ter)
c.2506A>T (p.Lys836Ter)
c.2536A>T (p.Lys846Ter)
c.2293A>T (p.Lys765Ter)
3g.47848300delCA2839542393DHX30c.2407del (p.Met803TrpfsTer?)
c.2323del (p.Met775TrpfsTer?)
c.*2307del (n.*2307del)
c.2491del (p.Met831TrpfsTer?)
n.524del
c.2290del (p.Met764TrpfsTer?)
c.2311del (p.Met771TrpfsTer?)
c.2620del (p.Met874TrpfsTer?)
c.2509del (p.Met837TrpfsTer?)
c.2539del (p.Met847TrpfsTer?)
c.2296del (p.Met766TrpfsTer?)
3g.47848298A>CCA352590589DHX30c.2405A>C (p.Lys802Thr)
c.2321A>C (p.Lys774Thr)
c.*2305A>C (n.*2305A>C)
c.2489A>C (p.Lys830Thr)
n.522A>C
c.2288A>C (p.Lys763Thr)
c.2309A>C (p.Lys770Thr)
c.2618A>C (p.Lys873Thr)
c.2507A>C (p.Lys836Thr)
c.2537A>C (p.Lys846Thr)
c.2294A>C (p.Lys765Thr)
3g.47848298A>GCA352590587DHX30c.2405A>G (p.Lys802Arg)
c.2321A>G (p.Lys774Arg)
c.*2305A>G (n.*2305A>G)
c.2489A>G (p.Lys830Arg)
n.522A>G
c.2288A>G (p.Lys763Arg)
c.2309A>G (p.Lys770Arg)
c.2618A>G (p.Lys873Arg)
c.2507A>G (p.Lys836Arg)
c.2537A>G (p.Lys846Arg)
c.2294A>G (p.Lys765Arg)
3g.47848298A>TCA352590585DHX30c.2405A>T (p.Lys802Ile)
c.2321A>T (p.Lys774Ile)
c.*2305A>T (n.*2305A>T)
c.2489A>T (p.Lys830Ile)
n.522A>T
c.2288A>T (p.Lys763Ile)
c.2309A>T (p.Lys770Ile)
c.2618A>T (p.Lys873Ile)
c.2507A>T (p.Lys836Ile)
c.2537A>T (p.Lys846Ile)
c.2294A>T (p.Lys765Ile)
3g.47848299A>CCA352590590DHX30c.2406A>C (p.Lys802Asn)
c.2322A>C (p.Lys774Asn)
c.*2306A>C (n.*2306A>C)
c.2490A>C (p.Lys830Asn)
n.523A>C
c.2289A>C (p.Lys763Asn)
c.2310A>C (p.Lys770Asn)
c.2619A>C (p.Lys873Asn)
c.2508A>C (p.Lys836Asn)
c.2538A>C (p.Lys846Asn)
c.2295A>C (p.Lys765Asn)
3g.47848299A>GCA433608830DHX30c.2406A>G (p.Lys802=)
c.2322A>G (p.Lys774=)
c.*2306A>G (n.*2306A>G)
c.2490A>G (p.Lys830=)
n.523A>G
c.2289A>G (p.Lys763=)
c.2310A>G (p.Lys770=)
c.2619A>G (p.Lys873=)
c.2508A>G (p.Lys836=)
c.2538A>G (p.Lys846=)
c.2295A>G (p.Lys765=)
3g.47848299A>TCA352590592DHX30c.2406A>T (p.Lys802Asn)
c.2322A>T (p.Lys774Asn)
c.*2306A>T (n.*2306A>T)
c.2490A>T (p.Lys830Asn)
n.523A>T
c.2289A>T (p.Lys763Asn)
c.2310A>T (p.Lys770Asn)
c.2619A>T (p.Lys873Asn)
c.2508A>T (p.Lys836Asn)
c.2538A>T (p.Lys846Asn)
c.2295A>T (p.Lys765Asn)
3g.47848300A>CCA352590594DHX30c.2407A>C (p.Met803Leu)
c.2323A>C (p.Met775Leu)
c.*2307A>C (n.*2307A>C)
c.2491A>C (p.Met831Leu)
n.524A>C
c.2290A>C (p.Met764Leu)
c.2311A>C (p.Met771Leu)
c.2620A>C (p.Met874Leu)
c.2509A>C (p.Met837Leu)
c.2539A>C (p.Met847Leu)
c.2296A>C (p.Met766Leu)
3g.47848300A>GCA352590596DHX30c.2407A>G (p.Met803Val)
c.2323A>G (p.Met775Val)
c.*2307A>G (n.*2307A>G)
c.2491A>G (p.Met831Val)
n.524A>G
c.2290A>G (p.Met764Val)
c.2311A>G (p.Met771Val)
c.2620A>G (p.Met874Val)
c.2509A>G (p.Met837Val)
c.2539A>G (p.Met847Val)
c.2296A>G (p.Met766Val)
3g.47848300A>TCA352590598DHX30c.2407A>T (p.Met803Leu)
c.2323A>T (p.Met775Leu)
c.*2307A>T (n.*2307A>T)
c.2491A>T (p.Met831Leu)
n.524A>T
c.2290A>T (p.Met764Leu)
c.2311A>T (p.Met771Leu)
c.2620A>T (p.Met874Leu)
c.2509A>T (p.Met837Leu)
c.2539A>T (p.Met847Leu)
c.2296A>T (p.Met766Leu)
3g.47848301T>ACA352590601DHX30c.2408T>A (p.Met803Lys)
c.2324T>A (p.Met775Lys)
c.*2308T>A (n.*2308T>A)
c.2492T>A (p.Met831Lys)
n.525T>A
c.2291T>A (p.Met764Lys)
c.2312T>A (p.Met771Lys)
c.2621T>A (p.Met874Lys)
c.2510T>A (p.Met837Lys)
c.2540T>A (p.Met847Lys)
c.2297T>A (p.Met766Lys)
3g.47848301T>CCA352590602DHX30c.2408T>C (p.Met803Thr)
c.2324T>C (p.Met775Thr)
c.*2308T>C (n.*2308T>C)
c.2492T>C (p.Met831Thr)
n.525T>C
c.2291T>C (p.Met764Thr)
c.2312T>C (p.Met771Thr)
c.2621T>C (p.Met874Thr)
c.2510T>C (p.Met837Thr)
c.2540T>C (p.Met847Thr)
c.2297T>C (p.Met766Thr)
3g.47848301T>GCA352590603DHX30c.2408T>G (p.Met803Arg)
c.2324T>G (p.Met775Arg)
c.*2308T>G (n.*2308T>G)
c.2492T>G (p.Met831Arg)
n.525T>G
c.2291T>G (p.Met764Arg)
c.2312T>G (p.Met771Arg)
c.2621T>G (p.Met874Arg)
c.2510T>G (p.Met837Arg)
c.2540T>G (p.Met847Arg)
c.2297T>G (p.Met766Arg)
3g.47848302G>ACA352590607DHX30c.2409G>A (p.Met803Ile)
c.2325G>A (p.Met775Ile)
c.*2309G>A (n.*2309G>A)
c.2493G>A (p.Met831Ile)
n.526G>A
c.2292G>A (p.Met764Ile)
c.2313G>A (p.Met771Ile)
c.2622G>A (p.Met874Ile)
c.2511G>A (p.Met837Ile)
c.2541G>A (p.Met847Ile)
c.2298G>A (p.Met766Ile)
3g.47848302G>CCA352590608DHX30c.2409G>C (p.Met803Ile)
c.2325G>C (p.Met775Ile)
c.*2309G>C (n.*2309G>C)
c.2493G>C (p.Met831Ile)
n.526G>C
c.2292G>C (p.Met764Ile)
c.2313G>C (p.Met771Ile)
c.2622G>C (p.Met874Ile)
c.2511G>C (p.Met837Ile)
c.2541G>C (p.Met847Ile)
c.2298G>C (p.Met766Ile)
3g.47848302G>TCA352590611DHX30c.2409G>T (p.Met803Ile)
c.2325G>T (p.Met775Ile)
c.*2309G>T (n.*2309G>T)
c.2493G>T (p.Met831Ile)
n.526G>T
c.2292G>T (p.Met764Ile)
c.2313G>T (p.Met771Ile)
c.2622G>T (p.Met874Ile)
c.2511G>T (p.Met837Ile)
c.2541G>T (p.Met847Ile)
c.2298G>T (p.Met766Ile)
3g.47848303G>ACA352590616DHX30c.2410G>A (p.Val804Ile)
c.2326G>A (p.Val776Ile)
c.*2310G>A (n.*2310G>A)
c.2494G>A (p.Val832Ile)
n.527G>A
c.2293G>A (p.Val765Ile)
c.2314G>A (p.Val772Ile)
c.2623G>A (p.Val875Ile)
c.2512G>A (p.Val838Ile)
c.2542G>A (p.Val848Ile)
c.2299G>A (p.Val767Ile)
3g.47848303G>CCA352590614DHX30c.2410G>C (p.Val804Leu)
c.2326G>C (p.Val776Leu)
c.*2310G>C (n.*2310G>C)
c.2494G>C (p.Val832Leu)
n.527G>C
c.2293G>C (p.Val765Leu)
c.2314G>C (p.Val772Leu)
c.2623G>C (p.Val875Leu)
c.2512G>C (p.Val838Leu)
c.2542G>C (p.Val848Leu)
c.2299G>C (p.Val767Leu)
3g.47848303G>TCA352590613DHX30c.2410G>T (p.Val804Phe)
c.2326G>T (p.Val776Phe)
c.*2310G>T (n.*2310G>T)
c.2494G>T (p.Val832Phe)
n.527G>T
c.2293G>T (p.Val765Phe)
c.2314G>T (p.Val772Phe)
c.2623G>T (p.Val875Phe)
c.2512G>T (p.Val838Phe)
c.2542G>T (p.Val848Phe)
c.2299G>T (p.Val767Phe)
3g.47848304T>ACA352590618DHX30c.2411T>A (p.Val804Asp)
c.2327T>A (p.Val776Asp)
c.*2311T>A (n.*2311T>A)
c.2495T>A (p.Val832Asp)
n.528T>A
c.2294T>A (p.Val765Asp)
c.2315T>A (p.Val772Asp)
c.2624T>A (p.Val875Asp)
c.2513T>A (p.Val838Asp)
c.2543T>A (p.Val848Asp)
c.2300T>A (p.Val767Asp)
3g.47848304T>CCA352590619DHX30c.2411T>C (p.Val804Ala)
c.2327T>C (p.Val776Ala)
c.*2311T>C (n.*2311T>C)
c.2495T>C (p.Val832Ala)
n.528T>C
c.2294T>C (p.Val765Ala)
c.2315T>C (p.Val772Ala)
c.2624T>C (p.Val875Ala)
c.2513T>C (p.Val838Ala)
c.2543T>C (p.Val848Ala)
c.2300T>C (p.Val767Ala)
3g.47848304T>GCA352590621DHX30c.2411T>G (p.Val804Gly)
c.2327T>G (p.Val776Gly)
c.*2311T>G (n.*2311T>G)
c.2495T>G (p.Val832Gly)
n.528T>G
c.2294T>G (p.Val765Gly)
c.2315T>G (p.Val772Gly)
c.2624T>G (p.Val875Gly)
c.2513T>G (p.Val838Gly)
c.2543T>G (p.Val848Gly)
c.2300T>G (p.Val767Gly)
3g.47848305C>ACA433608831DHX30c.2412C>A (p.Val804=)
c.2328C>A (p.Val776=)
c.*2312C>A (n.*2312C>A)
c.2496C>A (p.Val832=)
n.529C>A
c.2295C>A (p.Val765=)
c.2316C>A (p.Val772=)
c.2625C>A (p.Val875=)
c.2514C>A (p.Val838=)
c.2544C>A (p.Val848=)
c.2301C>A (p.Val767=)
3g.47848305C=CA1362750245DHX30c.2412C= (p.Val804=)
c.2328C= (p.Val776=)
c.*2312C= (n.*2312C=)
c.2496C= (p.Val832=)
n.529C=
c.2295C= (p.Val765=)
c.2316C= (p.Val772=)
c.2625C= (p.Val875=)
c.2514C= (p.Val838=)
c.2544C= (p.Val848=)
c.2301C= (p.Val767=)
3g.47848305C>GCA433608832DHX30c.2412C>G (p.Val804=)
c.2328C>G (p.Val776=)
c.*2312C>G (n.*2312C>G)
c.2496C>G (p.Val832=)
n.529C>G
c.2295C>G (p.Val765=)
c.2316C>G (p.Val772=)
c.2625C>G (p.Val875=)
c.2514C>G (p.Val838=)
c.2544C>G (p.Val848=)
c.2301C>G (p.Val767=)
3g.47848305C>TCA2370122DHX30c.2412C>T (p.Val804=)
c.2328C>T (p.Val776=)
c.*2312C>T (n.*2312C>T)
c.2496C>T (p.Val832=)
n.529C>T
c.2295C>T (p.Val765=)
c.2316C>T (p.Val772=)
c.2625C>T (p.Val875=)
c.2514C>T (p.Val838=)
c.2544C>T (p.Val848=)
c.2301C>T (p.Val767=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848306C>ACA352590624DHX30c.2413C>A (p.Pro805Thr)
c.2329C>A (p.Pro777Thr)
c.*2313C>A (n.*2313C>A)
c.2497C>A (p.Pro833Thr)
n.530C>A
c.2296C>A (p.Pro766Thr)
c.2317C>A (p.Pro773Thr)
c.2626C>A (p.Pro876Thr)
c.2515C>A (p.Pro839Thr)
c.2545C>A (p.Pro849Thr)
c.2302C>A (p.Pro768Thr)
3g.47848306C>GCA352590626DHX30c.2413C>G (p.Pro805Ala)
c.2329C>G (p.Pro777Ala)
c.*2313C>G (n.*2313C>G)
c.2497C>G (p.Pro833Ala)
n.530C>G
c.2296C>G (p.Pro766Ala)
c.2317C>G (p.Pro773Ala)
c.2626C>G (p.Pro876Ala)
c.2515C>G (p.Pro839Ala)
c.2545C>G (p.Pro849Ala)
c.2302C>G (p.Pro768Ala)
3g.47848306C>TCA352590628DHX30c.2413C>T (p.Pro805Ser)
c.2329C>T (p.Pro777Ser)
c.*2313C>T (n.*2313C>T)
c.2497C>T (p.Pro833Ser)
n.530C>T
c.2296C>T (p.Pro766Ser)
c.2317C>T (p.Pro773Ser)
c.2626C>T (p.Pro876Ser)
c.2515C>T (p.Pro839Ser)
c.2545C>T (p.Pro849Ser)
c.2302C>T (p.Pro768Ser)
3g.47848307C>ACA352590631DHX30c.2414C>A (p.Pro805His)
c.2330C>A (p.Pro777His)
c.*2314C>A (n.*2314C>A)
c.2498C>A (p.Pro833His)
n.531C>A
c.2297C>A (p.Pro766His)
c.2318C>A (p.Pro773His)
c.2627C>A (p.Pro876His)
c.2516C>A (p.Pro839His)
c.2546C>A (p.Pro849His)
c.2303C>A (p.Pro768His)
3g.47848307C=CA1362750246DHX30c.2414C= (p.Pro805=)
c.2330C= (p.Pro777=)
c.*2314C= (n.*2314C=)
c.2498C= (p.Pro833=)
n.531C=
c.2297C= (p.Pro766=)
c.2318C= (p.Pro773=)
c.2627C= (p.Pro876=)
c.2516C= (p.Pro839=)
c.2546C= (p.Pro849=)
c.2303C= (p.Pro768=)
3g.47848307C>GCA352590632DHX30c.2414C>G (p.Pro805Arg)
c.2330C>G (p.Pro777Arg)
c.*2314C>G (n.*2314C>G)
c.2498C>G (p.Pro833Arg)
n.531C>G
c.2297C>G (p.Pro766Arg)
c.2318C>G (p.Pro773Arg)
c.2627C>G (p.Pro876Arg)
c.2516C>G (p.Pro839Arg)
c.2546C>G (p.Pro849Arg)
c.2303C>G (p.Pro768Arg)
 dbSNP
3g.47848307C>TCA352590634DHX30c.2414C>T (p.Pro805Leu)
c.2330C>T (p.Pro777Leu)
c.*2314C>T (n.*2314C>T)
c.2498C>T (p.Pro833Leu)
n.531C>T
c.2297C>T (p.Pro766Leu)
c.2318C>T (p.Pro773Leu)
c.2627C>T (p.Pro876Leu)
c.2516C>T (p.Pro839Leu)
c.2546C>T (p.Pro849Leu)
c.2303C>T (p.Pro768Leu)
3g.47848308T>ACA433608833DHX30c.2415T>A (p.Pro805=)
c.2331T>A (p.Pro777=)
c.*2315T>A (n.*2315T>A)
c.2499T>A (p.Pro833=)
n.532T>A
c.2298T>A (p.Pro766=)
c.2319T>A (p.Pro773=)
c.2628T>A (p.Pro876=)
c.2517T>A (p.Pro839=)
c.2547T>A (p.Pro849=)
c.2304T>A (p.Pro768=)
3g.47848308T>CCA433608834DHX30c.2415T>C (p.Pro805=)
c.2331T>C (p.Pro777=)
c.*2315T>C (n.*2315T>C)
c.2499T>C (p.Pro833=)
n.532T>C
c.2298T>C (p.Pro766=)
c.2319T>C (p.Pro773=)
c.2628T>C (p.Pro876=)
c.2517T>C (p.Pro839=)
c.2547T>C (p.Pro849=)
c.2304T>C (p.Pro768=)
 dbSNP gnomAD v4
3g.47848308T>GCA433608835DHX30c.2415T>G (p.Pro805=)
c.2331T>G (p.Pro777=)
c.*2315T>G (n.*2315T>G)
c.2499T>G (p.Pro833=)
n.532T>G
c.2298T>G (p.Pro766=)
c.2319T>G (p.Pro773=)
c.2628T>G (p.Pro876=)
c.2517T>G (p.Pro839=)
c.2547T>G (p.Pro849=)
c.2304T>G (p.Pro768=)
3g.47848308T=CA1362750247DHX30c.2415T= (p.Pro805=)
c.2331T= (p.Pro777=)
c.*2315T= (n.*2315T=)
c.2499T= (p.Pro833=)
n.532T=
c.2298T= (p.Pro766=)
c.2319T= (p.Pro773=)
c.2628T= (p.Pro876=)
c.2517T= (p.Pro839=)
c.2547T= (p.Pro849=)
c.2304T= (p.Pro768=)
3g.47848309T>ACA352590636DHX30c.2416T>A (p.Phe806Ile)
c.2332T>A (p.Phe778Ile)
c.*2316T>A (n.*2316T>A)
c.2500T>A (p.Phe834Ile)
n.533T>A
c.2299T>A (p.Phe767Ile)
c.2320T>A (p.Phe774Ile)
c.2629T>A (p.Phe877Ile)
c.2518T>A (p.Phe840Ile)
c.2548T>A (p.Phe850Ile)
c.2305T>A (p.Phe769Ile)
3g.47848309T>CCA352590638DHX30c.2416T>C (p.Phe806Leu)
c.2332T>C (p.Phe778Leu)
c.*2316T>C (n.*2316T>C)
c.2500T>C (p.Phe834Leu)
n.533T>C
c.2299T>C (p.Phe767Leu)
c.2320T>C (p.Phe774Leu)
c.2629T>C (p.Phe877Leu)
c.2518T>C (p.Phe840Leu)
c.2548T>C (p.Phe850Leu)
c.2305T>C (p.Phe769Leu)
3g.47848309T>GCA352590640DHX30c.2416T>G (p.Phe806Val)
c.2332T>G (p.Phe778Val)
c.*2316T>G (n.*2316T>G)
c.2500T>G (p.Phe834Val)
n.533T>G
c.2299T>G (p.Phe767Val)
c.2320T>G (p.Phe774Val)
c.2629T>G (p.Phe877Val)
c.2518T>G (p.Phe840Val)
c.2548T>G (p.Phe850Val)
c.2305T>G (p.Phe769Val)
3g.47848310T>ACA352590642DHX30c.2417T>A (p.Phe806Tyr)
c.2333T>A (p.Phe778Tyr)
c.*2317T>A (n.*2317T>A)
c.2501T>A (p.Phe834Tyr)
n.534T>A
c.2300T>A (p.Phe767Tyr)
c.2321T>A (p.Phe774Tyr)
c.2630T>A (p.Phe877Tyr)
c.2519T>A (p.Phe840Tyr)
c.2549T>A (p.Phe850Tyr)
c.2306T>A (p.Phe769Tyr)
3g.47848310T>CCA352590644DHX30c.2417T>C (p.Phe806Ser)
c.2333T>C (p.Phe778Ser)
c.*2317T>C (n.*2317T>C)
c.2501T>C (p.Phe834Ser)
n.534T>C
c.2300T>C (p.Phe767Ser)
c.2321T>C (p.Phe774Ser)
c.2630T>C (p.Phe877Ser)
c.2519T>C (p.Phe840Ser)
c.2549T>C (p.Phe850Ser)
c.2306T>C (p.Phe769Ser)
3g.47848310T>GCA352590643DHX30c.2417T>G (p.Phe806Cys)
c.2333T>G (p.Phe778Cys)
c.*2317T>G (n.*2317T>G)
c.2501T>G (p.Phe834Cys)
n.534T>G
c.2300T>G (p.Phe767Cys)
c.2321T>G (p.Phe774Cys)
c.2630T>G (p.Phe877Cys)
c.2519T>G (p.Phe840Cys)
c.2549T>G (p.Phe850Cys)
c.2306T>G (p.Phe769Cys)
3g.47848311C>ACA352590646DHX30c.2418C>A (p.Phe806Leu)
c.2334C>A (p.Phe778Leu)
c.*2318C>A (n.*2318C>A)
c.2502C>A (p.Phe834Leu)
n.535C>A
c.2301C>A (p.Phe767Leu)
c.2322C>A (p.Phe774Leu)
c.2631C>A (p.Phe877Leu)
c.2520C>A (p.Phe840Leu)
c.2550C>A (p.Phe850Leu)
c.2307C>A (p.Phe769Leu)
3g.47848311C>GCA352590648DHX30c.2418C>G (p.Phe806Leu)
c.2334C>G (p.Phe778Leu)
c.*2318C>G (n.*2318C>G)
c.2502C>G (p.Phe834Leu)
n.535C>G
c.2301C>G (p.Phe767Leu)
c.2322C>G (p.Phe774Leu)
c.2631C>G (p.Phe877Leu)
c.2520C>G (p.Phe840Leu)
c.2550C>G (p.Phe850Leu)
c.2307C>G (p.Phe769Leu)
3g.47848311C>TCA433608836DHX30c.2418C>T (p.Phe806=)
c.2334C>T (p.Phe778=)
c.*2318C>T (n.*2318C>T)
c.2502C>T (p.Phe834=)
n.535C>T
c.2301C>T (p.Phe767=)
c.2322C>T (p.Phe774=)
c.2631C>T (p.Phe877=)
c.2520C>T (p.Phe840=)
c.2550C>T (p.Phe850=)
c.2307C>T (p.Phe769=)
3g.47848312C>ACA352590651DHX30c.2419C>A (p.Gln807Lys)
c.2335C>A (p.Gln779Lys)
c.*2319C>A (n.*2319C>A)
c.2503C>A (p.Gln835Lys)
n.536C>A
c.2302C>A (p.Gln768Lys)
c.2323C>A (p.Gln775Lys)
c.2632C>A (p.Gln878Lys)
c.2521C>A (p.Gln841Lys)
c.2551C>A (p.Gln851Lys)
c.2308C>A (p.Gln770Lys)
3g.47848312C>GCA352590653DHX30c.2419C>G (p.Gln807Glu)
c.2335C>G (p.Gln779Glu)
c.*2319C>G (n.*2319C>G)
c.2503C>G (p.Gln835Glu)
n.536C>G
c.2302C>G (p.Gln768Glu)
c.2323C>G (p.Gln775Glu)
c.2632C>G (p.Gln878Glu)
c.2521C>G (p.Gln841Glu)
c.2551C>G (p.Gln851Glu)
c.2308C>G (p.Gln770Glu)
3g.47848312C>TCA352590654DHX30c.2419C>T (p.Gln807Ter)
c.2335C>T (p.Gln779Ter)
c.*2319C>T (n.*2319C>T)
c.2503C>T (p.Gln835Ter)
n.536C>T
c.2302C>T (p.Gln768Ter)
c.2323C>T (p.Gln775Ter)
c.2632C>T (p.Gln878Ter)
c.2521C>T (p.Gln841Ter)
c.2551C>T (p.Gln851Ter)
c.2308C>T (p.Gln770Ter)
 gnomAD v4
3g.47848313A>CCA352590656DHX30c.2420A>C (p.Gln807Pro)
c.2336A>C (p.Gln779Pro)
c.*2320A>C (n.*2320A>C)
c.2504A>C (p.Gln835Pro)
n.537A>C
c.2303A>C (p.Gln768Pro)
c.2324A>C (p.Gln775Pro)
c.2633A>C (p.Gln878Pro)
c.2522A>C (p.Gln841Pro)
c.2552A>C (p.Gln851Pro)
c.2309A>C (p.Gln770Pro)
3g.47848313A>GCA352590658DHX30c.2420A>G (p.Gln807Arg)
c.2336A>G (p.Gln779Arg)
c.*2320A>G (n.*2320A>G)
c.2504A>G (p.Gln835Arg)
n.537A>G
c.2303A>G (p.Gln768Arg)
c.2324A>G (p.Gln775Arg)
c.2633A>G (p.Gln878Arg)
c.2522A>G (p.Gln841Arg)
c.2552A>G (p.Gln851Arg)
c.2309A>G (p.Gln770Arg)
3g.47848313A>TCA352590660DHX30c.2420A>T (p.Gln807Leu)
c.2336A>T (p.Gln779Leu)
c.*2320A>T (n.*2320A>T)
c.2504A>T (p.Gln835Leu)
n.537A>T
c.2303A>T (p.Gln768Leu)
c.2324A>T (p.Gln775Leu)
c.2633A>T (p.Gln878Leu)
c.2522A>T (p.Gln841Leu)
c.2552A>T (p.Gln851Leu)
c.2309A>T (p.Gln770Leu)
3g.47848314A>CCA352590661DHX30c.2421A>C (p.Gln807His)
c.2337A>C (p.Gln779His)
c.*2321A>C (n.*2321A>C)
c.2505A>C (p.Gln835His)
n.538A>C
c.2304A>C (p.Gln768His)
c.2325A>C (p.Gln775His)
c.2634A>C (p.Gln878His)
c.2523A>C (p.Gln841His)
c.2553A>C (p.Gln851His)
c.2310A>C (p.Gln770His)
3g.47848314A>GCA433608837DHX30c.2421A>G (p.Gln807=)
c.2337A>G (p.Gln779=)
c.*2321A>G (n.*2321A>G)
c.2505A>G (p.Gln835=)
n.538A>G
c.2304A>G (p.Gln768=)
c.2325A>G (p.Gln775=)
c.2634A>G (p.Gln878=)
c.2523A>G (p.Gln841=)
c.2553A>G (p.Gln851=)
c.2310A>G (p.Gln770=)
3g.47848314A>TCA352590662DHX30c.2421A>T (p.Gln807His)
c.2337A>T (p.Gln779His)
c.*2321A>T (n.*2321A>T)
c.2505A>T (p.Gln835His)
n.538A>T
c.2304A>T (p.Gln768His)
c.2325A>T (p.Gln775His)
c.2634A>T (p.Gln878His)
c.2523A>T (p.Gln841His)
c.2553A>T (p.Gln851His)
c.2310A>T (p.Gln770His)
3g.47848315G>ACA352590668DHX30c.2422G>A (p.Val808Met)
c.2338G>A (p.Val780Met)
c.*2322G>A (n.*2322G>A)
c.2506G>A (p.Val836Met)
n.539G>A
c.2305G>A (p.Val769Met)
c.2326G>A (p.Val776Met)
c.2635G>A (p.Val879Met)
c.2524G>A (p.Val842Met)
c.2554G>A (p.Val852Met)
c.2311G>A (p.Val771Met)
3g.47848315G>CCA352590667DHX30c.2422G>C (p.Val808Leu)
c.2338G>C (p.Val780Leu)
c.*2322G>C (n.*2322G>C)
c.2506G>C (p.Val836Leu)
n.539G>C
c.2305G>C (p.Val769Leu)
c.2326G>C (p.Val776Leu)
c.2635G>C (p.Val879Leu)
c.2524G>C (p.Val842Leu)
c.2554G>C (p.Val852Leu)
c.2311G>C (p.Val771Leu)
3g.47848315G>TCA352590664DHX30c.2422G>T (p.Val808Leu)
c.2338G>T (p.Val780Leu)
c.*2322G>T (n.*2322G>T)
c.2506G>T (p.Val836Leu)
n.539G>T
c.2305G>T (p.Val769Leu)
c.2326G>T (p.Val776Leu)
c.2635G>T (p.Val879Leu)
c.2524G>T (p.Val842Leu)
c.2554G>T (p.Val852Leu)
c.2311G>T (p.Val771Leu)
3g.47848316T>ACA352590671DHX30c.2423T>A (p.Val808Glu)
c.2339T>A (p.Val780Glu)
c.*2323T>A (n.*2323T>A)
c.2507T>A (p.Val836Glu)
n.540T>A
c.2306T>A (p.Val769Glu)
c.2327T>A (p.Val776Glu)
c.2636T>A (p.Val879Glu)
c.2525T>A (p.Val842Glu)
c.2555T>A (p.Val852Glu)
c.2312T>A (p.Val771Glu)
 ClinVar
3g.47848316T>CCA352590675DHX30c.2423T>C (p.Val808Ala)
c.2339T>C (p.Val780Ala)
c.*2323T>C (n.*2323T>C)
c.2507T>C (p.Val836Ala)
n.540T>C
c.2306T>C (p.Val769Ala)
c.2327T>C (p.Val776Ala)
c.2636T>C (p.Val879Ala)
c.2525T>C (p.Val842Ala)
c.2555T>C (p.Val852Ala)
c.2312T>C (p.Val771Ala)
3g.47848316T>GCA352590673DHX30c.2423T>G (p.Val808Gly)
c.2339T>G (p.Val780Gly)
c.*2323T>G (n.*2323T>G)
c.2507T>G (p.Val836Gly)
n.540T>G
c.2306T>G (p.Val769Gly)
c.2327T>G (p.Val776Gly)
c.2636T>G (p.Val879Gly)
c.2525T>G (p.Val842Gly)
c.2555T>G (p.Val852Gly)
c.2312T>G (p.Val771Gly)
3g.47848317G>ACA433608840DHX30c.2424G>A (p.Val808=)
c.2340G>A (p.Val780=)
c.*2324G>A (n.*2324G>A)
c.2508G>A (p.Val836=)
n.541G>A
c.2307G>A (p.Val769=)
c.2328G>A (p.Val776=)
c.2637G>A (p.Val879=)
c.2526G>A (p.Val842=)
c.2556G>A (p.Val852=)
c.2313G>A (p.Val771=)
 gnomAD v4
3g.47848317G>CCA433608838DHX30c.2424G>C (p.Val808=)
c.2340G>C (p.Val780=)
c.*2324G>C (n.*2324G>C)
c.2508G>C (p.Val836=)
n.541G>C
c.2307G>C (p.Val769=)
c.2328G>C (p.Val776=)
c.2637G>C (p.Val879=)
c.2526G>C (p.Val842=)
c.2556G>C (p.Val852=)
c.2313G>C (p.Val771=)
3g.47848317G>TCA433608839DHX30c.2424G>T (p.Val808=)
c.2340G>T (p.Val780=)
c.*2324G>T (n.*2324G>T)
c.2508G>T (p.Val836=)
n.541G>T
c.2307G>T (p.Val769=)
c.2328G>T (p.Val776=)
c.2637G>T (p.Val879=)
c.2526G>T (p.Val842=)
c.2556G>T (p.Val852=)
c.2313G>T (p.Val771=)
 gnomAD v4
3g.47848318C>ACA352590676DHX30c.2425C>A (p.Pro809Thr)
c.2341C>A (p.Pro781Thr)
c.*2325C>A (n.*2325C>A)
c.2509C>A (p.Pro837Thr)
n.542C>A
c.2308C>A (p.Pro770Thr)
c.2329C>A (p.Pro777Thr)
c.2638C>A (p.Pro880Thr)
c.2527C>A (p.Pro843Thr)
c.2557C>A (p.Pro853Thr)
c.2314C>A (p.Pro772Thr)
3g.47848318C>GCA352590678DHX30c.2425C>G (p.Pro809Ala)
c.2341C>G (p.Pro781Ala)
c.*2325C>G (n.*2325C>G)
c.2509C>G (p.Pro837Ala)
n.542C>G
c.2308C>G (p.Pro770Ala)
c.2329C>G (p.Pro777Ala)
c.2638C>G (p.Pro880Ala)
c.2527C>G (p.Pro843Ala)
c.2557C>G (p.Pro853Ala)
c.2314C>G (p.Pro772Ala)
3g.47848318C>TCA352590680DHX30c.2425C>T (p.Pro809Ser)
c.2341C>T (p.Pro781Ser)
c.*2325C>T (n.*2325C>T)
c.2509C>T (p.Pro837Ser)
n.542C>T
c.2308C>T (p.Pro770Ser)
c.2329C>T (p.Pro777Ser)
c.2638C>T (p.Pro880Ser)
c.2527C>T (p.Pro843Ser)
c.2557C>T (p.Pro853Ser)
c.2314C>T (p.Pro772Ser)
3g.47848319C>ACA352590682DHX30c.2426C>A (p.Pro809Gln)
c.2342C>A (p.Pro781Gln)
c.*2326C>A (n.*2326C>A)
c.2510C>A (p.Pro837Gln)
n.543C>A
c.2309C>A (p.Pro770Gln)
c.2330C>A (p.Pro777Gln)
c.2639C>A (p.Pro880Gln)
c.2528C>A (p.Pro843Gln)
c.2558C>A (p.Pro853Gln)
c.2315C>A (p.Pro772Gln)
3g.47848319C>GCA352590684DHX30c.2426C>G (p.Pro809Arg)
c.2342C>G (p.Pro781Arg)
c.*2326C>G (n.*2326C>G)
c.2510C>G (p.Pro837Arg)
n.543C>G
c.2309C>G (p.Pro770Arg)
c.2330C>G (p.Pro777Arg)
c.2639C>G (p.Pro880Arg)
c.2528C>G (p.Pro843Arg)
c.2558C>G (p.Pro853Arg)
c.2315C>G (p.Pro772Arg)
3g.47848319C>TCA352590686DHX30c.2426C>T (p.Pro809Leu)
c.2342C>T (p.Pro781Leu)
c.*2326C>T (n.*2326C>T)
c.2510C>T (p.Pro837Leu)
n.543C>T
c.2309C>T (p.Pro770Leu)
c.2330C>T (p.Pro777Leu)
c.2639C>T (p.Pro880Leu)
c.2528C>T (p.Pro843Leu)
c.2558C>T (p.Pro853Leu)
c.2315C>T (p.Pro772Leu)
3g.47848320A=CA1362750248DHX30c.2427A= (p.Pro809=)
c.2343A= (p.Pro781=)
c.*2327A= (n.*2327A=)
c.2511A= (p.Pro837=)
n.544A=
c.2310A= (p.Pro770=)
c.2331A= (p.Pro777=)
c.2640A= (p.Pro880=)
c.2529A= (p.Pro843=)
c.2559A= (p.Pro853=)
c.2316A= (p.Pro772=)
3g.47848320A>CCA433608841DHX30c.2427A>C (p.Pro809=)
c.2343A>C (p.Pro781=)
c.*2327A>C (n.*2327A>C)
c.2511A>C (p.Pro837=)
n.544A>C
c.2310A>C (p.Pro770=)
c.2331A>C (p.Pro777=)
c.2640A>C (p.Pro880=)
c.2529A>C (p.Pro843=)
c.2559A>C (p.Pro853=)
c.2316A>C (p.Pro772=)
3g.47848320A>GCA433608843DHX30c.2427A>G (p.Pro809=)
c.2343A>G (p.Pro781=)
c.*2327A>G (n.*2327A>G)
c.2511A>G (p.Pro837=)
n.544A>G
c.2310A>G (p.Pro770=)
c.2331A>G (p.Pro777=)
c.2640A>G (p.Pro880=)
c.2529A>G (p.Pro843=)
c.2559A>G (p.Pro853=)
c.2316A>G (p.Pro772=)
 dbSNP gnomAD v2 gnomAD v4
3g.47848320A>TCA433608842DHX30c.2427A>T (p.Pro809=)
c.2343A>T (p.Pro781=)
c.*2327A>T (n.*2327A>T)
c.2511A>T (p.Pro837=)
n.544A>T
c.2310A>T (p.Pro770=)
c.2331A>T (p.Pro777=)
c.2640A>T (p.Pro880=)
c.2529A>T (p.Pro843=)
c.2559A>T (p.Pro853=)
c.2316A>T (p.Pro772=)
3g.47848321G>ACA352590688DHX30c.2428G>A (p.Glu810Lys)
c.2344G>A (p.Glu782Lys)
c.*2328G>A (n.*2328G>A)
c.2512G>A (p.Glu838Lys)
n.545G>A
c.2311G>A (p.Glu771Lys)
c.2332G>A (p.Glu778Lys)
c.2641G>A (p.Glu881Lys)
c.2530G>A (p.Glu844Lys)
c.2560G>A (p.Glu854Lys)
c.2317G>A (p.Glu773Lys)
3g.47848321G>CCA352590690DHX30c.2428G>C (p.Glu810Gln)
c.2344G>C (p.Glu782Gln)
c.*2328G>C (n.*2328G>C)
c.2512G>C (p.Glu838Gln)
n.545G>C
c.2311G>C (p.Glu771Gln)
c.2332G>C (p.Glu778Gln)
c.2641G>C (p.Glu881Gln)
c.2530G>C (p.Glu844Gln)
c.2560G>C (p.Glu854Gln)
c.2317G>C (p.Glu773Gln)
 dbSNP
3g.47848321G=CA1362750249DHX30c.2428G= (p.Glu810=)
c.2344G= (p.Glu782=)
c.*2328G= (n.*2328G=)
c.2512G= (p.Glu838=)
n.545G=
c.2311G= (p.Glu771=)
c.2332G= (p.Glu778=)
c.2641G= (p.Glu881=)
c.2530G= (p.Glu844=)
c.2560G= (p.Glu854=)
c.2317G= (p.Glu773=)
3g.47848321G>TCA352590692DHX30c.2428G>T (p.Glu810Ter)
c.2344G>T (p.Glu782Ter)
c.*2328G>T (n.*2328G>T)
c.2512G>T (p.Glu838Ter)
n.545G>T
c.2311G>T (p.Glu771Ter)
c.2332G>T (p.Glu778Ter)
c.2641G>T (p.Glu881Ter)
c.2530G>T (p.Glu844Ter)
c.2560G>T (p.Glu854Ter)
c.2317G>T (p.Glu773Ter)
3g.47848322A>CCA352590694DHX30c.2429A>C (p.Glu810Ala)
c.2345A>C (p.Glu782Ala)
c.*2329A>C (n.*2329A>C)
c.2513A>C (p.Glu838Ala)
n.546A>C
c.2312A>C (p.Glu771Ala)
c.2333A>C (p.Glu778Ala)
c.2642A>C (p.Glu881Ala)
c.2531A>C (p.Glu844Ala)
c.2561A>C (p.Glu854Ala)
c.2318A>C (p.Glu773Ala)
3g.47848322A>GCA352590696DHX30c.2429A>G (p.Glu810Gly)
c.2345A>G (p.Glu782Gly)
c.*2329A>G (n.*2329A>G)
c.2513A>G (p.Glu838Gly)
n.546A>G
c.2312A>G (p.Glu771Gly)
c.2333A>G (p.Glu778Gly)
c.2642A>G (p.Glu881Gly)
c.2531A>G (p.Glu844Gly)
c.2561A>G (p.Glu854Gly)
c.2318A>G (p.Glu773Gly)
3g.47848322A>TCA352590698DHX30c.2429A>T (p.Glu810Val)
c.2345A>T (p.Glu782Val)
c.*2329A>T (n.*2329A>T)
c.2513A>T (p.Glu838Val)
n.546A>T
c.2312A>T (p.Glu771Val)
c.2333A>T (p.Glu778Val)
c.2642A>T (p.Glu881Val)
c.2531A>T (p.Glu844Val)
c.2561A>T (p.Glu854Val)
c.2318A>T (p.Glu773Val)
3g.47848323G>ACA433608844DHX30c.2430G>A (p.Glu810=)
c.2346G>A (p.Glu782=)
c.*2330G>A (n.*2330G>A)
c.2514G>A (p.Glu838=)
n.547G>A
c.2313G>A (p.Glu771=)
c.2334G>A (p.Glu778=)
c.2643G>A (p.Glu881=)
c.2532G>A (p.Glu844=)
c.2562G>A (p.Glu854=)
c.2319G>A (p.Glu773=)
3g.47848323G>CCA352590700DHX30c.2430G>C (p.Glu810Asp)
c.2346G>C (p.Glu782Asp)
c.*2330G>C (n.*2330G>C)
c.2514G>C (p.Glu838Asp)
n.547G>C
c.2313G>C (p.Glu771Asp)
c.2334G>C (p.Glu778Asp)
c.2643G>C (p.Glu881Asp)
c.2532G>C (p.Glu844Asp)
c.2562G>C (p.Glu854Asp)
c.2319G>C (p.Glu773Asp)
3g.47848323G>TCA352590702DHX30c.2430G>T (p.Glu810Asp)
c.2346G>T (p.Glu782Asp)
c.*2330G>T (n.*2330G>T)
c.2514G>T (p.Glu838Asp)
n.547G>T
c.2313G>T (p.Glu771Asp)
c.2334G>T (p.Glu778Asp)
c.2643G>T (p.Glu881Asp)
c.2532G>T (p.Glu844Asp)
c.2562G>T (p.Glu854Asp)
c.2319G>T (p.Glu773Asp)
3g.47848324A>CCA352590704DHX30c.2431A>C (p.Ile811Leu)
c.2347A>C (p.Ile783Leu)
c.*2331A>C (n.*2331A>C)
c.2515A>C (p.Ile839Leu)
n.548A>C
c.2314A>C (p.Ile772Leu)
c.2335A>C (p.Ile779Leu)
c.2644A>C (p.Ile882Leu)
c.2533A>C (p.Ile845Leu)
c.2563A>C (p.Ile855Leu)
c.2320A>C (p.Ile774Leu)
3g.47848324A>GCA352590705DHX30c.2431A>G (p.Ile811Val)
c.2347A>G (p.Ile783Val)
c.*2331A>G (n.*2331A>G)
c.2515A>G (p.Ile839Val)
n.548A>G
c.2314A>G (p.Ile772Val)
c.2335A>G (p.Ile779Val)
c.2644A>G (p.Ile882Val)
c.2533A>G (p.Ile845Val)
c.2563A>G (p.Ile855Val)
c.2320A>G (p.Ile774Val)
3g.47848324A>TCA352590708DHX30c.2431A>T (p.Ile811Phe)
c.2347A>T (p.Ile783Phe)
c.*2331A>T (n.*2331A>T)
c.2515A>T (p.Ile839Phe)
n.548A>T
c.2314A>T (p.Ile772Phe)
c.2335A>T (p.Ile779Phe)
c.2644A>T (p.Ile882Phe)
c.2533A>T (p.Ile845Phe)
c.2563A>T (p.Ile855Phe)
c.2320A>T (p.Ile774Phe)
3g.47848325T>ACA352590710DHX30c.2432T>A (p.Ile811Asn)
c.2348T>A (p.Ile783Asn)
c.*2332T>A (n.*2332T>A)
c.2516T>A (p.Ile839Asn)
n.549T>A
c.2315T>A (p.Ile772Asn)
c.2336T>A (p.Ile779Asn)
c.2645T>A (p.Ile882Asn)
c.2534T>A (p.Ile845Asn)
c.2564T>A (p.Ile855Asn)
c.2321T>A (p.Ile774Asn)
3g.47848325T>CCA352590712DHX30c.2432T>C (p.Ile811Thr)
c.2348T>C (p.Ile783Thr)
c.*2332T>C (n.*2332T>C)
c.2516T>C (p.Ile839Thr)
n.549T>C
c.2315T>C (p.Ile772Thr)
c.2336T>C (p.Ile779Thr)
c.2645T>C (p.Ile882Thr)
c.2534T>C (p.Ile845Thr)
c.2564T>C (p.Ile855Thr)
c.2321T>C (p.Ile774Thr)
3g.47848325T>GCA352590714DHX30c.2432T>G (p.Ile811Ser)
c.2348T>G (p.Ile783Ser)
c.*2332T>G (n.*2332T>G)
c.2516T>G (p.Ile839Ser)
n.549T>G
c.2315T>G (p.Ile772Ser)
c.2336T>G (p.Ile779Ser)
c.2645T>G (p.Ile882Ser)
c.2534T>G (p.Ile845Ser)
c.2564T>G (p.Ile855Ser)
c.2321T>G (p.Ile774Ser)
3g.47848326C>ACA433608656DHX30c.2433C>A (p.Ile811=)
c.2349C>A (p.Ile783=)
c.*2333C>A (n.*2333C>A)
c.2517C>A (p.Ile839=)
n.550C>A
c.2316C>A (p.Ile772=)
c.2337C>A (p.Ile779=)
c.2646C>A (p.Ile882=)
c.2535C>A (p.Ile845=)
c.2565C>A (p.Ile855=)
c.2322C>A (p.Ile774=)
3g.47848326C>GCA352590716DHX30c.2433C>G (p.Ile811Met)
c.2349C>G (p.Ile783Met)
c.*2333C>G (n.*2333C>G)
c.2517C>G (p.Ile839Met)
n.550C>G
c.2316C>G (p.Ile772Met)
c.2337C>G (p.Ile779Met)
c.2646C>G (p.Ile882Met)
c.2535C>G (p.Ile845Met)
c.2565C>G (p.Ile855Met)
c.2322C>G (p.Ile774Met)
3g.47848326C>TCA433608657DHX30c.2433C>T (p.Ile811=)
c.2349C>T (p.Ile783=)
c.*2333C>T (n.*2333C>T)
c.2517C>T (p.Ile839=)
n.550C>T
c.2316C>T (p.Ile772=)
c.2337C>T (p.Ile779=)
c.2646C>T (p.Ile882=)
c.2535C>T (p.Ile845=)
c.2565C>T (p.Ile855=)
c.2322C>T (p.Ile774=)
 gnomAD v4
3g.47848327C>ACA352590717DHX30c.2434C>A (p.Leu812Met)
c.2350C>A (p.Leu784Met)
c.*2334C>A (n.*2334C>A)
c.2518C>A (p.Leu840Met)
n.551C>A
c.2317C>A (p.Leu773Met)
c.2338C>A (p.Leu780Met)
c.2647C>A (p.Leu883Met)
c.2536C>A (p.Leu846Met)
c.2566C>A (p.Leu856Met)
c.2323C>A (p.Leu775Met)
3g.47848327C=CA1362750250DHX30c.2434C= (p.Leu812=)
c.2350C= (p.Leu784=)
c.*2334C= (n.*2334C=)
c.2518C= (p.Leu840=)
n.551C=
c.2317C= (p.Leu773=)
c.2338C= (p.Leu780=)
c.2647C= (p.Leu883=)
c.2536C= (p.Leu846=)
c.2566C= (p.Leu856=)
c.2323C= (p.Leu775=)
3g.47848327C>GCA352590719DHX30c.2434C>G (p.Leu812Val)
c.2350C>G (p.Leu784Val)
c.*2334C>G (n.*2334C>G)
c.2518C>G (p.Leu840Val)
n.551C>G
c.2317C>G (p.Leu773Val)
c.2338C>G (p.Leu780Val)
c.2647C>G (p.Leu883Val)
c.2536C>G (p.Leu846Val)
c.2566C>G (p.Leu856Val)
c.2323C>G (p.Leu775Val)
3g.47848327C>TCA433608658DHX30c.2434C>T (p.Leu812=)
c.2350C>T (p.Leu784=)
c.*2334C>T (n.*2334C>T)
c.2518C>T (p.Leu840=)
n.551C>T
c.2317C>T (p.Leu773=)
c.2338C>T (p.Leu780=)
c.2647C>T (p.Leu883=)
c.2536C>T (p.Leu846=)
c.2566C>T (p.Leu856=)
c.2323C>T (p.Leu775=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47848328T>ACA352590721DHX30c.2435T>A (p.Leu812Gln)
c.2351T>A (p.Leu784Gln)
c.*2335T>A (n.*2335T>A)
c.2519T>A (p.Leu840Gln)
n.552T>A
c.2318T>A (p.Leu773Gln)
c.2339T>A (p.Leu780Gln)
c.2648T>A (p.Leu883Gln)
c.2537T>A (p.Leu846Gln)
c.2567T>A (p.Leu856Gln)
c.2324T>A (p.Leu775Gln)
3g.47848328T>CCA352590723DHX30c.2435T>C (p.Leu812Pro)
c.2351T>C (p.Leu784Pro)
c.*2335T>C (n.*2335T>C)
c.2519T>C (p.Leu840Pro)
n.552T>C
c.2318T>C (p.Leu773Pro)
c.2339T>C (p.Leu780Pro)
c.2648T>C (p.Leu883Pro)
c.2537T>C (p.Leu846Pro)
c.2567T>C (p.Leu856Pro)
c.2324T>C (p.Leu775Pro)
3g.47848328T>GCA352590724DHX30c.2435T>G (p.Leu812Arg)
c.2351T>G (p.Leu784Arg)
c.*2335T>G (n.*2335T>G)
c.2519T>G (p.Leu840Arg)
n.552T>G
c.2318T>G (p.Leu773Arg)
c.2339T>G (p.Leu780Arg)
c.2648T>G (p.Leu883Arg)
c.2537T>G (p.Leu846Arg)
c.2567T>G (p.Leu856Arg)
c.2324T>G (p.Leu775Arg)
3g.47848329G>ACA433608659DHX30c.2436G>A (p.Leu812=)
c.2352G>A (p.Leu784=)
c.*2336G>A (n.*2336G>A)
c.2520G>A (p.Leu840=)
n.553G>A
c.2319G>A (p.Leu773=)
c.2340G>A (p.Leu780=)
c.2649G>A (p.Leu883=)
c.2538G>A (p.Leu846=)
c.2568G>A (p.Leu856=)
c.2325G>A (p.Leu775=)
 dbSNP gnomAD v2 gnomAD v4
3g.47848329G>CCA433608660DHX30c.2436G>C (p.Leu812=)
c.2352G>C (p.Leu784=)
c.*2336G>C (n.*2336G>C)
c.2520G>C (p.Leu840=)
n.553G>C
c.2319G>C (p.Leu773=)
c.2340G>C (p.Leu780=)
c.2649G>C (p.Leu883=)
c.2538G>C (p.Leu846=)
c.2568G>C (p.Leu856=)
c.2325G>C (p.Leu775=)
3g.47848329G=CA1362750251DHX30c.2436G= (p.Leu812=)
c.2352G= (p.Leu784=)
c.*2336G= (n.*2336G=)
c.2520G= (p.Leu840=)
n.553G=
c.2319G= (p.Leu773=)
c.2340G= (p.Leu780=)
c.2649G= (p.Leu883=)
c.2538G= (p.Leu846=)
c.2568G= (p.Leu856=)
c.2325G= (p.Leu775=)
3g.47848329G>TCA433608661DHX30c.2436G>T (p.Leu812=)
c.2352G>T (p.Leu784=)
c.*2336G>T (n.*2336G>T)
c.2520G>T (p.Leu840=)
n.553G>T
c.2319G>T (p.Leu773=)
c.2340G>T (p.Leu780=)
c.2649G>T (p.Leu883=)
c.2538G>T (p.Leu846=)
c.2568G>T (p.Leu856=)
c.2325G>T (p.Leu775=)
3g.47848330C>ACA352590726DHX30c.2437C>A (p.Arg813Ser)
c.2353C>A (p.Arg785Ser)
c.*2337C>A (n.*2337C>A)
c.2521C>A (p.Arg841Ser)
n.554C>A
c.2320C>A (p.Arg774Ser)
c.2341C>A (p.Arg781Ser)
c.2650C>A (p.Arg884Ser)
c.2539C>A (p.Arg847Ser)
c.2569C>A (p.Arg857Ser)
c.2326C>A (p.Arg776Ser)
3g.47848330C>GCA352590729DHX30c.2437C>G (p.Arg813Gly)
c.2353C>G (p.Arg785Gly)
c.*2337C>G (n.*2337C>G)
c.2521C>G (p.Arg841Gly)
n.554C>G
c.2320C>G (p.Arg774Gly)
c.2341C>G (p.Arg781Gly)
c.2650C>G (p.Arg884Gly)
c.2539C>G (p.Arg847Gly)
c.2569C>G (p.Arg857Gly)
c.2326C>G (p.Arg776Gly)
3g.47848330C>TCA352590728DHX30c.2437C>T (p.Arg813Cys)
c.2353C>T (p.Arg785Cys)
c.*2337C>T (n.*2337C>T)
c.2521C>T (p.Arg841Cys)
n.554C>T
c.2320C>T (p.Arg774Cys)
c.2341C>T (p.Arg781Cys)
c.2650C>T (p.Arg884Cys)
c.2539C>T (p.Arg847Cys)
c.2569C>T (p.Arg857Cys)
c.2326C>T (p.Arg776Cys)
 gnomAD v4 COSMIC
3g.47848331G>ACA352590730DHX30c.2438G>A (p.Arg813His)
c.2354G>A (p.Arg785His)
c.*2338G>A (n.*2338G>A)
c.2522G>A (p.Arg841His)
n.555G>A
c.2321G>A (p.Arg774His)
c.2342G>A (p.Arg781His)
c.2651G>A (p.Arg884His)
c.2540G>A (p.Arg847His)
c.2570G>A (p.Arg857His)
c.2327G>A (p.Arg776His)
 dbSNP gnomAD v4
3g.47848331G>CCA352590731DHX30c.2438G>C (p.Arg813Pro)
c.2354G>C (p.Arg785Pro)
c.*2338G>C (n.*2338G>C)
c.2522G>C (p.Arg841Pro)
n.555G>C
c.2321G>C (p.Arg774Pro)
c.2342G>C (p.Arg781Pro)
c.2651G>C (p.Arg884Pro)
c.2540G>C (p.Arg847Pro)
c.2570G>C (p.Arg857Pro)
c.2327G>C (p.Arg776Pro)
3g.47848331G=CA1362750252DHX30c.2438G= (p.Arg813=)
c.2354G= (p.Arg785=)
c.*2338G= (n.*2338G=)
c.2522G= (p.Arg841=)
n.555G=
c.2321G= (p.Arg774=)
c.2342G= (p.Arg781=)
c.2651G= (p.Arg884=)
c.2540G= (p.Arg847=)
c.2570G= (p.Arg857=)
c.2327G= (p.Arg776=)
3g.47848331G>TCA352590732DHX30c.2438G>T (p.Arg813Leu)
c.2354G>T (p.Arg785Leu)
c.*2338G>T (n.*2338G>T)
c.2522G>T (p.Arg841Leu)
n.555G>T
c.2321G>T (p.Arg774Leu)
c.2342G>T (p.Arg781Leu)
c.2651G>T (p.Arg884Leu)
c.2540G>T (p.Arg847Leu)
c.2570G>T (p.Arg857Leu)
c.2327G>T (p.Arg776Leu)
3g.47848332C>ACA433608662DHX30c.2439C>A (p.Arg813=)
c.2355C>A (p.Arg785=)
c.*2339C>A (n.*2339C>A)
c.2523C>A (p.Arg841=)
n.556C>A
c.2322C>A (p.Arg774=)
c.2343C>A (p.Arg781=)
c.2652C>A (p.Arg884=)
c.2541C>A (p.Arg847=)
c.2571C>A (p.Arg857=)
c.2328C>A (p.Arg776=)
3g.47848332C=CA1362750253DHX30c.2439C= (p.Arg813=)
c.2355C= (p.Arg785=)
c.*2339C= (n.*2339C=)
c.2523C= (p.Arg841=)
n.556C=
c.2322C= (p.Arg774=)
c.2343C= (p.Arg781=)
c.2652C= (p.Arg884=)
c.2541C= (p.Arg847=)
c.2571C= (p.Arg857=)
c.2328C= (p.Arg776=)
3g.47848332C>GCA433608663DHX30c.2439C>G (p.Arg813=)
c.2355C>G (p.Arg785=)
c.*2339C>G (n.*2339C>G)
c.2523C>G (p.Arg841=)
n.556C>G
c.2322C>G (p.Arg774=)
c.2343C>G (p.Arg781=)
c.2652C>G (p.Arg884=)
c.2541C>G (p.Arg847=)
c.2571C>G (p.Arg857=)
c.2328C>G (p.Arg776=)
3g.47848332C>TCA433608664DHX30c.2439C>T (p.Arg813=)
c.2355C>T (p.Arg785=)
c.*2339C>T (n.*2339C>T)
c.2523C>T (p.Arg841=)
n.556C>T
c.2322C>T (p.Arg774=)
c.2343C>T (p.Arg781=)
c.2652C>T (p.Arg884=)
c.2541C>T (p.Arg847=)
c.2571C>T (p.Arg857=)
c.2328C>T (p.Arg776=)
 dbSNP gnomAD v2
3g.47848333A=CA1362750254DHX30c.2440A= (p.Thr814=)
c.2356A= (p.Thr786=)
c.*2340A= (n.*2340A=)
c.2524A= (p.Thr842=)
n.557A=
c.2323A= (p.Thr775=)
c.2344A= (p.Thr782=)
c.2653A= (p.Thr885=)
c.2542A= (p.Thr848=)
c.2572A= (p.Thr858=)
c.2329A= (p.Thr777=)
3g.47848333A>CCA352590733DHX30c.2440A>C (p.Thr814Pro)
c.2356A>C (p.Thr786Pro)
c.*2340A>C (n.*2340A>C)
c.2524A>C (p.Thr842Pro)
n.557A>C
c.2323A>C (p.Thr775Pro)
c.2344A>C (p.Thr782Pro)
c.2653A>C (p.Thr885Pro)
c.2542A>C (p.Thr848Pro)
c.2572A>C (p.Thr858Pro)
c.2329A>C (p.Thr777Pro)
3g.47848333A>GCA352590735DHX30c.2440A>G (p.Thr814Ala)
c.2356A>G (p.Thr786Ala)
c.*2340A>G (n.*2340A>G)
c.2524A>G (p.Thr842Ala)
n.557A>G
c.2323A>G (p.Thr775Ala)
c.2344A>G (p.Thr782Ala)
c.2653A>G (p.Thr885Ala)
c.2542A>G (p.Thr848Ala)
c.2572A>G (p.Thr858Ala)
c.2329A>G (p.Thr777Ala)
3g.47848333A>TCA352590737DHX30c.2440A>T (p.Thr814Ser)
c.2356A>T (p.Thr786Ser)
c.*2340A>T (n.*2340A>T)
c.2524A>T (p.Thr842Ser)
n.557A>T
c.2323A>T (p.Thr775Ser)
c.2344A>T (p.Thr782Ser)
c.2653A>T (p.Thr885Ser)
c.2542A>T (p.Thr848Ser)
c.2572A>T (p.Thr858Ser)
c.2329A>T (p.Thr777Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47848334C>ACA352590739DHX30c.2441C>A (p.Thr814Lys)
c.2357C>A (p.Thr786Lys)
c.*2341C>A (n.*2341C>A)
c.2525C>A (p.Thr842Lys)
n.558C>A
c.2324C>A (p.Thr775Lys)
c.2345C>A (p.Thr782Lys)
c.2654C>A (p.Thr885Lys)
c.2543C>A (p.Thr848Lys)
c.2573C>A (p.Thr858Lys)
c.2330C>A (p.Thr777Lys)
3g.47848334C>GCA352590742DHX30c.2441C>G (p.Thr814Arg)
c.2357C>G (p.Thr786Arg)
c.*2341C>G (n.*2341C>G)
c.2525C>G (p.Thr842Arg)
n.558C>G
c.2324C>G (p.Thr775Arg)
c.2345C>G (p.Thr782Arg)
c.2654C>G (p.Thr885Arg)
c.2543C>G (p.Thr848Arg)
c.2573C>G (p.Thr858Arg)
c.2330C>G (p.Thr777Arg)
3g.47848334C>TCA352590744DHX30c.2441C>T (p.Thr814Ile)
c.2357C>T (p.Thr786Ile)
c.*2341C>T (n.*2341C>T)
c.2525C>T (p.Thr842Ile)
n.558C>T
c.2324C>T (p.Thr775Ile)
c.2345C>T (p.Thr782Ile)
c.2654C>T (p.Thr885Ile)
c.2543C>T (p.Thr848Ile)
c.2573C>T (p.Thr858Ile)
c.2330C>T (p.Thr777Ile)
3g.47848335A=CA1362750255DHX30c.2442A= (p.Thr814=)
c.2358A= (p.Thr786=)
c.*2342A= (n.*2342A=)
c.2526A= (p.Thr842=)
n.559A=
c.2325A= (p.Thr775=)
c.2346A= (p.Thr782=)
c.2655A= (p.Thr885=)
c.2544A= (p.Thr848=)
c.2574A= (p.Thr858=)
c.2331A= (p.Thr777=)
3g.47848335A>CCA2370124DHX30c.2442A>C (p.Thr814=)
c.2358A>C (p.Thr786=)
c.*2342A>C (n.*2342A>C)
c.2526A>C (p.Thr842=)
n.559A>C
c.2325A>C (p.Thr775=)
c.2346A>C (p.Thr782=)
c.2655A>C (p.Thr885=)
c.2544A>C (p.Thr848=)
c.2574A>C (p.Thr858=)
c.2331A>C (p.Thr777=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848335A>GCA2370123DHX30c.2442A>G (p.Thr814=)
c.2358A>G (p.Thr786=)
c.*2342A>G (n.*2342A>G)
c.2526A>G (p.Thr842=)
n.559A>G
c.2325A>G (p.Thr775=)
c.2346A>G (p.Thr782=)
c.2655A>G (p.Thr885=)
c.2544A>G (p.Thr848=)
c.2574A>G (p.Thr858=)
c.2331A>G (p.Thr777=)
 dbSNP ExAC gnomAD v2
3g.47848335A>TCA73899326DHX30c.2442A>T (p.Thr814=)
c.2358A>T (p.Thr786=)
c.*2342A>T (n.*2342A>T)
c.2526A>T (p.Thr842=)
n.559A>T
c.2325A>T (p.Thr775=)
c.2346A>T (p.Thr782=)
c.2655A>T (p.Thr885=)
c.2544A>T (p.Thr848=)
c.2574A>T (p.Thr858=)
c.2331A>T (p.Thr777=)
 dbSNP gnomAD v2 gnomAD v4
3g.47848336C>ACA352590752DHX30c.2443C>A (p.Pro815Thr)
c.2359C>A (p.Pro787Thr)
c.*2343C>A (n.*2343C>A)
c.2527C>A (p.Pro843Thr)
n.560C>A
c.2326C>A (p.Pro776Thr)
c.2347C>A (p.Pro783Thr)
c.2656C>A (p.Pro886Thr)
c.2545C>A (p.Pro849Thr)
c.2575C>A (p.Pro859Thr)
c.2332C>A (p.Pro778Thr)
3g.47848336C>GCA352590750DHX30c.2443C>G (p.Pro815Ala)
c.2359C>G (p.Pro787Ala)
c.*2343C>G (n.*2343C>G)
c.2527C>G (p.Pro843Ala)
n.560C>G
c.2326C>G (p.Pro776Ala)
c.2347C>G (p.Pro783Ala)
c.2656C>G (p.Pro886Ala)
c.2545C>G (p.Pro849Ala)
c.2575C>G (p.Pro859Ala)
c.2332C>G (p.Pro778Ala)
3g.47848336C>TCA352590748DHX30c.2443C>T (p.Pro815Ser)
c.2359C>T (p.Pro787Ser)
c.*2343C>T (n.*2343C>T)
c.2527C>T (p.Pro843Ser)
n.560C>T
c.2326C>T (p.Pro776Ser)
c.2347C>T (p.Pro783Ser)
c.2656C>T (p.Pro886Ser)
c.2545C>T (p.Pro849Ser)
c.2575C>T (p.Pro859Ser)
c.2332C>T (p.Pro778Ser)
3g.47848337C>ACA352590754DHX30c.2444C>A (p.Pro815His)
c.2360C>A (p.Pro787His)
c.*2344C>A (n.*2344C>A)
c.2528C>A (p.Pro843His)
n.561C>A
c.2327C>A (p.Pro776His)
c.2348C>A (p.Pro783His)
c.2657C>A (p.Pro886His)
c.2546C>A (p.Pro849His)
c.2576C>A (p.Pro859His)
c.2333C>A (p.Pro778His)
3g.47848337C>GCA352590755DHX30c.2444C>G (p.Pro815Arg)
c.2360C>G (p.Pro787Arg)
c.*2344C>G (n.*2344C>G)
c.2528C>G (p.Pro843Arg)
n.561C>G
c.2327C>G (p.Pro776Arg)
c.2348C>G (p.Pro783Arg)
c.2657C>G (p.Pro886Arg)
c.2546C>G (p.Pro849Arg)
c.2576C>G (p.Pro859Arg)
c.2333C>G (p.Pro778Arg)
3g.47848337C>TCA352590757DHX30c.2444C>T (p.Pro815Leu)
c.2360C>T (p.Pro787Leu)
c.*2344C>T (n.*2344C>T)
c.2528C>T (p.Pro843Leu)
n.561C>T
c.2327C>T (p.Pro776Leu)
c.2348C>T (p.Pro783Leu)
c.2657C>T (p.Pro886Leu)
c.2546C>T (p.Pro849Leu)
c.2576C>T (p.Pro859Leu)
c.2333C>T (p.Pro778Leu)
3g.47848338T>ACA433608665DHX30c.2445T>A (p.Pro815=)
c.2361T>A (p.Pro787=)
c.*2345T>A (n.*2345T>A)
c.2529T>A (p.Pro843=)
n.562T>A
c.2328T>A (p.Pro776=)
c.2349T>A (p.Pro783=)
c.2658T>A (p.Pro886=)
c.2547T>A (p.Pro849=)
c.2577T>A (p.Pro859=)
c.2334T>A (p.Pro778=)
3g.47848338T>CCA433608666DHX30c.2445T>C (p.Pro815=)
c.2361T>C (p.Pro787=)
c.*2345T>C (n.*2345T>C)
c.2529T>C (p.Pro843=)
n.562T>C
c.2328T>C (p.Pro776=)
c.2349T>C (p.Pro783=)
c.2658T>C (p.Pro886=)
c.2547T>C (p.Pro849=)
c.2577T>C (p.Pro859=)
c.2334T>C (p.Pro778=)
 gnomAD v4
3g.47848338T>GCA433608667DHX30c.2445T>G (p.Pro815=)
c.2361T>G (p.Pro787=)
c.*2345T>G (n.*2345T>G)
c.2529T>G (p.Pro843=)
n.562T>G
c.2328T>G (p.Pro776=)
c.2349T>G (p.Pro783=)
c.2658T>G (p.Pro886=)
c.2547T>G (p.Pro849=)
c.2577T>G (p.Pro859=)
c.2334T>G (p.Pro778=)
3g.47848339C>ACA352590759DHX30c.2446C>A (p.Leu816Ile)
c.2362C>A (p.Leu788Ile)
c.*2346C>A (n.*2346C>A)
c.2530C>A (p.Leu844Ile)
n.563C>A
c.2329C>A (p.Leu777Ile)
c.2350C>A (p.Leu784Ile)
c.2659C>A (p.Leu887Ile)
c.2548C>A (p.Leu850Ile)
c.2578C>A (p.Leu860Ile)
c.2335C>A (p.Leu779Ile)
3g.47848339C>GCA352590761DHX30c.2446C>G (p.Leu816Val)
c.2362C>G (p.Leu788Val)
c.*2346C>G (n.*2346C>G)
c.2530C>G (p.Leu844Val)
n.563C>G
c.2329C>G (p.Leu777Val)
c.2350C>G (p.Leu784Val)
c.2659C>G (p.Leu887Val)
c.2548C>G (p.Leu850Val)
c.2578C>G (p.Leu860Val)
c.2335C>G (p.Leu779Val)
3g.47848339C>TCA352590763DHX30c.2446C>T (p.Leu816Phe)
c.2362C>T (p.Leu788Phe)
c.*2346C>T (n.*2346C>T)
c.2530C>T (p.Leu844Phe)
n.563C>T
c.2329C>T (p.Leu777Phe)
c.2350C>T (p.Leu784Phe)
c.2659C>T (p.Leu887Phe)
c.2548C>T (p.Leu850Phe)
c.2578C>T (p.Leu860Phe)
c.2335C>T (p.Leu779Phe)
3g.47848340T>ACA352590765DHX30c.2447T>A (p.Leu816His)
c.2363T>A (p.Leu788His)
c.*2347T>A (n.*2347T>A)
c.2531T>A (p.Leu844His)
n.564T>A
c.2330T>A (p.Leu777His)
c.2351T>A (p.Leu784His)
c.2660T>A (p.Leu887His)
c.2549T>A (p.Leu850His)
c.2579T>A (p.Leu860His)
c.2336T>A (p.Leu779His)
3g.47848340T>CCA352590767DHX30c.2447T>C (p.Leu816Pro)
c.2363T>C (p.Leu788Pro)
c.*2347T>C (n.*2347T>C)
c.2531T>C (p.Leu844Pro)
n.564T>C
c.2330T>C (p.Leu777Pro)
c.2351T>C (p.Leu784Pro)
c.2660T>C (p.Leu887Pro)
c.2549T>C (p.Leu850Pro)
c.2579T>C (p.Leu860Pro)
c.2336T>C (p.Leu779Pro)
3g.47848340T>GCA352590769DHX30c.2447T>G (p.Leu816Arg)
c.2363T>G (p.Leu788Arg)
c.*2347T>G (n.*2347T>G)
c.2531T>G (p.Leu844Arg)
n.564T>G
c.2330T>G (p.Leu777Arg)
c.2351T>G (p.Leu784Arg)
c.2660T>G (p.Leu887Arg)
c.2549T>G (p.Leu850Arg)
c.2579T>G (p.Leu860Arg)
c.2336T>G (p.Leu779Arg)
3g.47848341T>ACA433608669DHX30c.2448T>A (p.Leu816=)
c.2364T>A (p.Leu788=)
c.*2348T>A (n.*2348T>A)
c.2532T>A (p.Leu844=)
n.565T>A
c.2331T>A (p.Leu777=)
c.2352T>A (p.Leu784=)
c.2661T>A (p.Leu887=)
c.2550T>A (p.Leu850=)
c.2580T>A (p.Leu860=)
c.2337T>A (p.Leu779=)
3g.47848341T>CCA73899333DHX30c.2448T>C (p.Leu816=)
c.2364T>C (p.Leu788=)
c.*2348T>C (n.*2348T>C)
c.2532T>C (p.Leu844=)
n.565T>C
c.2331T>C (p.Leu777=)
c.2352T>C (p.Leu784=)
c.2661T>C (p.Leu887=)
c.2550T>C (p.Leu850=)
c.2580T>C (p.Leu860=)
c.2337T>C (p.Leu779=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47848341T>GCA433608668DHX30c.2448T>G (p.Leu816=)
c.2364T>G (p.Leu788=)
c.*2348T>G (n.*2348T>G)
c.2532T>G (p.Leu844=)
n.565T>G
c.2331T>G (p.Leu777=)
c.2352T>G (p.Leu784=)
c.2661T>G (p.Leu887=)
c.2550T>G (p.Leu850=)
c.2580T>G (p.Leu860=)
c.2337T>G (p.Leu779=)
3g.47848341T=CA1362750256DHX30c.2448T= (p.Leu816=)
c.2364T= (p.Leu788=)
c.*2348T= (n.*2348T=)
c.2532T= (p.Leu844=)
n.565T=
c.2331T= (p.Leu777=)
c.2352T= (p.Leu784=)
c.2661T= (p.Leu887=)
c.2550T= (p.Leu850=)
c.2580T= (p.Leu860=)
c.2337T= (p.Leu779=)
3g.47848342G>ACA352590773DHX30c.2449G>A (p.Glu817Lys)
c.2365G>A (p.Glu789Lys)
c.*2349G>A (n.*2349G>A)
c.2533G>A (p.Glu845Lys)
n.566G>A
c.2332G>A (p.Glu778Lys)
c.2353G>A (p.Glu785Lys)
c.2662G>A (p.Glu888Lys)
c.2551G>A (p.Glu851Lys)
c.2581G>A (p.Glu861Lys)
c.2338G>A (p.Glu780Lys)
3g.47848342G>CCA352590774DHX30c.2449G>C (p.Glu817Gln)
c.2365G>C (p.Glu789Gln)
c.*2349G>C (n.*2349G>C)
c.2533G>C (p.Glu845Gln)
n.566G>C
c.2332G>C (p.Glu778Gln)
c.2353G>C (p.Glu785Gln)
c.2662G>C (p.Glu888Gln)
c.2551G>C (p.Glu851Gln)
c.2581G>C (p.Glu861Gln)
c.2338G>C (p.Glu780Gln)
 dbSNP gnomAD v3 gnomAD v4
3g.47848342G=CA1362750257DHX30c.2449G= (p.Glu817=)
c.2365G= (p.Glu789=)
c.*2349G= (n.*2349G=)
c.2533G= (p.Glu845=)
n.566G=
c.2332G= (p.Glu778=)
c.2353G= (p.Glu785=)
c.2662G= (p.Glu888=)
c.2551G= (p.Glu851=)
c.2581G= (p.Glu861=)
c.2338G= (p.Glu780=)
3g.47848342G>TCA352590776DHX30c.2449G>T (p.Glu817Ter)
c.2365G>T (p.Glu789Ter)
c.*2349G>T (n.*2349G>T)
c.2533G>T (p.Glu845Ter)
n.566G>T
c.2332G>T (p.Glu778Ter)
c.2353G>T (p.Glu785Ter)
c.2662G>T (p.Glu888Ter)
c.2551G>T (p.Glu851Ter)
c.2581G>T (p.Glu861Ter)
c.2338G>T (p.Glu780Ter)
3g.47848343A>CCA352590780DHX30c.2450A>C (p.Glu817Ala)
c.2366A>C (p.Glu789Ala)
c.*2350A>C (n.*2350A>C)
c.2534A>C (p.Glu845Ala)
n.567A>C
c.2333A>C (p.Glu778Ala)
c.2354A>C (p.Glu785Ala)
c.2663A>C (p.Glu888Ala)
c.2552A>C (p.Glu851Ala)
c.2582A>C (p.Glu861Ala)
c.2339A>C (p.Glu780Ala)
3g.47848343A>GCA352590782DHX30c.2450A>G (p.Glu817Gly)
c.2366A>G (p.Glu789Gly)
c.*2350A>G (n.*2350A>G)
c.2534A>G (p.Glu845Gly)
n.567A>G
c.2333A>G (p.Glu778Gly)
c.2354A>G (p.Glu785Gly)
c.2663A>G (p.Glu888Gly)
c.2552A>G (p.Glu851Gly)
c.2582A>G (p.Glu861Gly)
c.2339A>G (p.Glu780Gly)
3g.47848343A>TCA352590778DHX30c.2450A>T (p.Glu817Val)
c.2366A>T (p.Glu789Val)
c.*2350A>T (n.*2350A>T)
c.2534A>T (p.Glu845Val)
n.567A>T
c.2333A>T (p.Glu778Val)
c.2354A>T (p.Glu785Val)
c.2663A>T (p.Glu888Val)
c.2552A>T (p.Glu851Val)
c.2582A>T (p.Glu861Val)
c.2339A>T (p.Glu780Val)
3g.47848344G>ACA433608670DHX30c.2451G>A (p.Glu817=)
c.2367G>A (p.Glu789=)
c.*2351G>A (n.*2351G>A)
c.2535G>A (p.Glu845=)
n.568G>A
c.2334G>A (p.Glu778=)
c.2355G>A (p.Glu785=)
c.2664G>A (p.Glu888=)
c.2553G>A (p.Glu851=)
c.2583G>A (p.Glu861=)
c.2340G>A (p.Glu780=)
3g.47848344G>CCA352590786DHX30c.2451G>C (p.Glu817Asp)
c.2367G>C (p.Glu789Asp)
c.*2351G>C (n.*2351G>C)
c.2535G>C (p.Glu845Asp)
n.568G>C
c.2334G>C (p.Glu778Asp)
c.2355G>C (p.Glu785Asp)
c.2664G>C (p.Glu888Asp)
c.2553G>C (p.Glu851Asp)
c.2583G>C (p.Glu861Asp)
c.2340G>C (p.Glu780Asp)
3g.47848344G=CA1362750258DHX30c.2451G= (p.Glu817=)
c.2367G= (p.Glu789=)
c.*2351G= (n.*2351G=)
c.2535G= (p.Glu845=)
n.568G=
c.2334G= (p.Glu778=)
c.2355G= (p.Glu785=)
c.2664G= (p.Glu888=)
c.2553G= (p.Glu851=)
c.2583G= (p.Glu861=)
c.2340G= (p.Glu780=)
3g.47848344G>TCA352590784DHX30c.2451G>T (p.Glu817Asp)
c.2367G>T (p.Glu789Asp)
c.*2351G>T (n.*2351G>T)
c.2535G>T (p.Glu845Asp)
n.568G>T
c.2334G>T (p.Glu778Asp)
c.2355G>T (p.Glu785Asp)
c.2664G>T (p.Glu888Asp)
c.2553G>T (p.Glu851Asp)
c.2583G>T (p.Glu861Asp)
c.2340G>T (p.Glu780Asp)
 dbSNP gnomAD v2 gnomAD v4
3g.47848345A>CCA352590788DHX30c.2452A>C (p.Asn818His)
c.2368A>C (p.Asn790His)
c.*2352A>C (n.*2352A>C)
c.2536A>C (p.Asn846His)
n.569A>C
c.2335A>C (p.Asn779His)
c.2356A>C (p.Asn786His)
c.2665A>C (p.Asn889His)
c.2554A>C (p.Asn852His)
c.2584A>C (p.Asn862His)
c.2341A>C (p.Asn781His)
3g.47848345A>GCA352590789DHX30c.2452A>G (p.Asn818Asp)
c.2368A>G (p.Asn790Asp)
c.*2352A>G (n.*2352A>G)
c.2536A>G (p.Asn846Asp)
n.569A>G
c.2335A>G (p.Asn779Asp)
c.2356A>G (p.Asn786Asp)
c.2665A>G (p.Asn889Asp)
c.2554A>G (p.Asn852Asp)
c.2584A>G (p.Asn862Asp)
c.2341A>G (p.Asn781Asp)
3g.47848345A>TCA352590790DHX30c.2452A>T (p.Asn818Tyr)
c.2368A>T (p.Asn790Tyr)
c.*2352A>T (n.*2352A>T)
c.2536A>T (p.Asn846Tyr)
n.569A>T
c.2335A>T (p.Asn779Tyr)
c.2356A>T (p.Asn786Tyr)
c.2665A>T (p.Asn889Tyr)
c.2554A>T (p.Asn852Tyr)
c.2584A>T (p.Asn862Tyr)
c.2341A>T (p.Asn781Tyr)
3g.47848346A>CCA352590792DHX30c.2453A>C (p.Asn818Thr)
c.2369A>C (p.Asn790Thr)
c.*2353A>C (n.*2353A>C)
c.2537A>C (p.Asn846Thr)
n.570A>C
c.2336A>C (p.Asn779Thr)
c.2357A>C (p.Asn786Thr)
c.2666A>C (p.Asn889Thr)
c.2555A>C (p.Asn852Thr)
c.2585A>C (p.Asn862Thr)
c.2342A>C (p.Asn781Thr)
 ClinVar
3g.47848346A>GCA352590793DHX30c.2453A>G (p.Asn818Ser)
c.2369A>G (p.Asn790Ser)
c.*2353A>G (n.*2353A>G)
c.2537A>G (p.Asn846Ser)
n.570A>G
c.2336A>G (p.Asn779Ser)
c.2357A>G (p.Asn786Ser)
c.2666A>G (p.Asn889Ser)
c.2555A>G (p.Asn852Ser)
c.2585A>G (p.Asn862Ser)
c.2342A>G (p.Asn781Ser)
 gnomAD v4
3g.47848346A>TCA352590795DHX30c.2453A>T (p.Asn818Ile)
c.2369A>T (p.Asn790Ile)
c.*2353A>T (n.*2353A>T)
c.2537A>T (p.Asn846Ile)
n.570A>T
c.2336A>T (p.Asn779Ile)
c.2357A>T (p.Asn786Ile)
c.2666A>T (p.Asn889Ile)
c.2555A>T (p.Asn852Ile)
c.2585A>T (p.Asn862Ile)
c.2342A>T (p.Asn781Ile)

Number of alleles fetched