Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77520839A>CCA413707144ATRXc.7149T>G (p.Asp2383Glu)
c.2247T>G (p.Asp749Glu)
c.7035T>G (p.Asp2345Glu)
c.*6777T>G (n.*6777T>G)
n.5469T>G
n.380T>G
c.7146T>G (p.Asp2382Glu)
c.7062T>G (p.Asp2354Glu)
c.7032T>G (p.Asp2344Glu)
c.6984T>G (p.Asp2328Glu)
c.6945T>G (p.Asp2315Glu)
c.6870T>G (p.Asp2290Glu)
n.8741T>G
c.7059T>G (p.Asp2353Glu)
c.7029T>G (p.Asp2343Glu)
c.6981T>G (p.Asp2327Glu)
c.6948T>G (p.Asp2316Glu)
c.6918T>G (p.Asp2306Glu)
c.6915T>G (p.Asp2305Glu)
c.6867T>G (p.Asp2289Glu)
c.6831T>G (p.Asp2277Glu)
c.6828T>G (p.Asp2276Glu)
c.6783T>G (p.Asp2261Glu)
n.7448T>G
Xg.77520839A>GCA517374392ATRXc.7149T>C (p.Asp2383=)
c.2247T>C (p.Asp749=)
c.7035T>C (p.Asp2345=)
c.*6777T>C (n.*6777T>C)
n.5469T>C
n.380T>C
c.7146T>C (p.Asp2382=)
c.7062T>C (p.Asp2354=)
c.7032T>C (p.Asp2344=)
c.6984T>C (p.Asp2328=)
c.6945T>C (p.Asp2315=)
c.6870T>C (p.Asp2290=)
n.8741T>C
c.7059T>C (p.Asp2353=)
c.7029T>C (p.Asp2343=)
c.6981T>C (p.Asp2327=)
c.6948T>C (p.Asp2316=)
c.6918T>C (p.Asp2306=)
c.6915T>C (p.Asp2305=)
c.6867T>C (p.Asp2289=)
c.6831T>C (p.Asp2277=)
c.6828T>C (p.Asp2276=)
c.6783T>C (p.Asp2261=)
n.7448T>C
Xg.77520839A>TCA413707146ATRXc.7149T>A (p.Asp2383Glu)
c.2247T>A (p.Asp749Glu)
c.7035T>A (p.Asp2345Glu)
c.*6777T>A (n.*6777T>A)
n.5469T>A
n.380T>A
c.7146T>A (p.Asp2382Glu)
c.7062T>A (p.Asp2354Glu)
c.7032T>A (p.Asp2344Glu)
c.6984T>A (p.Asp2328Glu)
c.6945T>A (p.Asp2315Glu)
c.6870T>A (p.Asp2290Glu)
n.8741T>A
c.7059T>A (p.Asp2353Glu)
c.7029T>A (p.Asp2343Glu)
c.6981T>A (p.Asp2327Glu)
c.6948T>A (p.Asp2316Glu)
c.6918T>A (p.Asp2306Glu)
c.6915T>A (p.Asp2305Glu)
c.6867T>A (p.Asp2289Glu)
c.6831T>A (p.Asp2277Glu)
c.6828T>A (p.Asp2276Glu)
c.6783T>A (p.Asp2261Glu)
n.7448T>A
Xg.77520840T>ACA413707148ATRXc.7148A>T (p.Asp2383Val)
c.2246A>T (p.Asp749Val)
c.7034A>T (p.Asp2345Val)
c.*6776A>T (n.*6776A>T)
n.5468A>T
n.379A>T
c.7145A>T (p.Asp2382Val)
c.7061A>T (p.Asp2354Val)
c.7031A>T (p.Asp2344Val)
c.6983A>T (p.Asp2328Val)
c.6944A>T (p.Asp2315Val)
c.6869A>T (p.Asp2290Val)
n.8740A>T
c.7058A>T (p.Asp2353Val)
c.7028A>T (p.Asp2343Val)
c.6980A>T (p.Asp2327Val)
c.6947A>T (p.Asp2316Val)
c.6917A>T (p.Asp2306Val)
c.6914A>T (p.Asp2305Val)
c.6866A>T (p.Asp2289Val)
c.6830A>T (p.Asp2277Val)
c.6827A>T (p.Asp2276Val)
c.6782A>T (p.Asp2261Val)
n.7447A>T
Xg.77520840T>CCA413707150ATRXc.7148A>G (p.Asp2383Gly)
c.2246A>G (p.Asp749Gly)
c.7034A>G (p.Asp2345Gly)
c.*6776A>G (n.*6776A>G)
n.5468A>G
n.379A>G
c.7145A>G (p.Asp2382Gly)
c.7061A>G (p.Asp2354Gly)
c.7031A>G (p.Asp2344Gly)
c.6983A>G (p.Asp2328Gly)
c.6944A>G (p.Asp2315Gly)
c.6869A>G (p.Asp2290Gly)
n.8740A>G
c.7058A>G (p.Asp2353Gly)
c.7028A>G (p.Asp2343Gly)
c.6980A>G (p.Asp2327Gly)
c.6947A>G (p.Asp2316Gly)
c.6917A>G (p.Asp2306Gly)
c.6914A>G (p.Asp2305Gly)
c.6866A>G (p.Asp2289Gly)
c.6830A>G (p.Asp2277Gly)
c.6827A>G (p.Asp2276Gly)
c.6782A>G (p.Asp2261Gly)
n.7447A>G
Xg.77520840T>GCA413707151ATRXc.7148A>C (p.Asp2383Ala)
c.2246A>C (p.Asp749Ala)
c.7034A>C (p.Asp2345Ala)
c.*6776A>C (n.*6776A>C)
n.5468A>C
n.379A>C
c.7145A>C (p.Asp2382Ala)
c.7061A>C (p.Asp2354Ala)
c.7031A>C (p.Asp2344Ala)
c.6983A>C (p.Asp2328Ala)
c.6944A>C (p.Asp2315Ala)
c.6869A>C (p.Asp2290Ala)
n.8740A>C
c.7058A>C (p.Asp2353Ala)
c.7028A>C (p.Asp2343Ala)
c.6980A>C (p.Asp2327Ala)
c.6947A>C (p.Asp2316Ala)
c.6917A>C (p.Asp2306Ala)
c.6914A>C (p.Asp2305Ala)
c.6866A>C (p.Asp2289Ala)
c.6830A>C (p.Asp2277Ala)
c.6827A>C (p.Asp2276Ala)
c.6782A>C (p.Asp2261Ala)
n.7447A>C
Xg.77520841C>ACA413707152ATRXc.7147G>T (p.Asp2383Tyr)
c.2245G>T (p.Asp749Tyr)
c.7033G>T (p.Asp2345Tyr)
c.*6775G>T (n.*6775G>T)
n.5467G>T
n.378G>T
c.7144G>T (p.Asp2382Tyr)
c.7060G>T (p.Asp2354Tyr)
c.7030G>T (p.Asp2344Tyr)
c.6982G>T (p.Asp2328Tyr)
c.6943G>T (p.Asp2315Tyr)
c.6868G>T (p.Asp2290Tyr)
n.8739G>T
c.7057G>T (p.Asp2353Tyr)
c.7027G>T (p.Asp2343Tyr)
c.6979G>T (p.Asp2327Tyr)
c.6946G>T (p.Asp2316Tyr)
c.6916G>T (p.Asp2306Tyr)
c.6913G>T (p.Asp2305Tyr)
c.6865G>T (p.Asp2289Tyr)
c.6829G>T (p.Asp2277Tyr)
c.6826G>T (p.Asp2276Tyr)
c.6781G>T (p.Asp2261Tyr)
n.7446G>T
Xg.77520841C=CA2438933065ATRXc.7147G= (p.Asp2383=)
c.2245G= (p.Asp749=)
c.7033G= (p.Asp2345=)
c.*6775G= (n.*6775G=)
n.5467G=
n.378G=
c.7144G= (p.Asp2382=)
c.7060G= (p.Asp2354=)
c.7030G= (p.Asp2344=)
c.6982G= (p.Asp2328=)
c.6943G= (p.Asp2315=)
c.6868G= (p.Asp2290=)
n.8739G=
c.7057G= (p.Asp2353=)
c.7027G= (p.Asp2343=)
c.6979G= (p.Asp2327=)
c.6946G= (p.Asp2316=)
c.6916G= (p.Asp2306=)
c.6913G= (p.Asp2305=)
c.6865G= (p.Asp2289=)
c.6829G= (p.Asp2277=)
c.6826G= (p.Asp2276=)
c.6781G= (p.Asp2261=)
n.7446G=
Xg.77520841C>GCA16043294ATRXc.7147G>C (p.Asp2383His)
c.2245G>C (p.Asp749His)
c.7033G>C (p.Asp2345His)
c.*6775G>C (n.*6775G>C)
n.5467G>C
n.378G>C
c.7144G>C (p.Asp2382His)
c.7060G>C (p.Asp2354His)
c.7030G>C (p.Asp2344His)
c.6982G>C (p.Asp2328His)
c.6943G>C (p.Asp2315His)
c.6868G>C (p.Asp2290His)
n.8739G>C
c.7057G>C (p.Asp2353His)
c.7027G>C (p.Asp2343His)
c.6979G>C (p.Asp2327His)
c.6946G>C (p.Asp2316His)
c.6916G>C (p.Asp2306His)
c.6913G>C (p.Asp2305His)
c.6865G>C (p.Asp2289His)
c.6829G>C (p.Asp2277His)
c.6826G>C (p.Asp2276His)
c.6781G>C (p.Asp2261His)
n.7446G>C
 ClinVar dbSNP
Xg.77520841C>TCA413707154ATRXc.7147G>A (p.Asp2383Asn)
c.2245G>A (p.Asp749Asn)
c.7033G>A (p.Asp2345Asn)
c.*6775G>A (n.*6775G>A)
n.5467G>A
n.378G>A
c.7144G>A (p.Asp2382Asn)
c.7060G>A (p.Asp2354Asn)
c.7030G>A (p.Asp2344Asn)
c.6982G>A (p.Asp2328Asn)
c.6943G>A (p.Asp2315Asn)
c.6868G>A (p.Asp2290Asn)
n.8739G>A
c.7057G>A (p.Asp2353Asn)
c.7027G>A (p.Asp2343Asn)
c.6979G>A (p.Asp2327Asn)
c.6946G>A (p.Asp2316Asn)
c.6916G>A (p.Asp2306Asn)
c.6913G>A (p.Asp2305Asn)
c.6865G>A (p.Asp2289Asn)
c.6829G>A (p.Asp2277Asn)
c.6826G>A (p.Asp2276Asn)
c.6781G>A (p.Asp2261Asn)
n.7446G>A
Xg.77520842A=CA2438933066ATRXc.7146T= (p.Leu2382=)
c.2244T= (p.Leu748=)
c.7032T= (p.Leu2344=)
c.*6774T= (n.*6774T=)
n.5466T=
n.377T=
c.7143T= (p.Leu2381=)
c.7059T= (p.Leu2353=)
c.7029T= (p.Leu2343=)
c.6981T= (p.Leu2327=)
c.6942T= (p.Leu2314=)
c.6867T= (p.Leu2289=)
n.8738T=
c.7056T= (p.Leu2352=)
c.7026T= (p.Leu2342=)
c.6978T= (p.Leu2326=)
c.6945T= (p.Leu2315=)
c.6915T= (p.Leu2305=)
c.6912T= (p.Leu2304=)
c.6864T= (p.Leu2288=)
c.6828T= (p.Leu2276=)
c.6825T= (p.Leu2275=)
c.6780T= (p.Leu2260=)
n.7445T=
Xg.77520842A>CCA517374393ATRXc.7146T>G (p.Leu2382=)
c.2244T>G (p.Leu748=)
c.7032T>G (p.Leu2344=)
c.*6774T>G (n.*6774T>G)
n.5466T>G
n.377T>G
c.7143T>G (p.Leu2381=)
c.7059T>G (p.Leu2353=)
c.7029T>G (p.Leu2343=)
c.6981T>G (p.Leu2327=)
c.6942T>G (p.Leu2314=)
c.6867T>G (p.Leu2289=)
n.8738T>G
c.7056T>G (p.Leu2352=)
c.7026T>G (p.Leu2342=)
c.6978T>G (p.Leu2326=)
c.6945T>G (p.Leu2315=)
c.6915T>G (p.Leu2305=)
c.6912T>G (p.Leu2304=)
c.6864T>G (p.Leu2288=)
c.6828T>G (p.Leu2276=)
c.6825T>G (p.Leu2275=)
c.6780T>G (p.Leu2260=)
n.7445T>G
 dbSNP
Xg.77520842A>GCA517374394ATRXc.7146T>C (p.Leu2382=)
c.2244T>C (p.Leu748=)
c.7032T>C (p.Leu2344=)
c.*6774T>C (n.*6774T>C)
n.5466T>C
n.377T>C
c.7143T>C (p.Leu2381=)
c.7059T>C (p.Leu2353=)
c.7029T>C (p.Leu2343=)
c.6981T>C (p.Leu2327=)
c.6942T>C (p.Leu2314=)
c.6867T>C (p.Leu2289=)
n.8738T>C
c.7056T>C (p.Leu2352=)
c.7026T>C (p.Leu2342=)
c.6978T>C (p.Leu2326=)
c.6945T>C (p.Leu2315=)
c.6915T>C (p.Leu2305=)
c.6912T>C (p.Leu2304=)
c.6864T>C (p.Leu2288=)
c.6828T>C (p.Leu2276=)
c.6825T>C (p.Leu2275=)
c.6780T>C (p.Leu2260=)
n.7445T>C
Xg.77520842A>TCA517374395ATRXc.7146T>A (p.Leu2382=)
c.2244T>A (p.Leu748=)
c.7032T>A (p.Leu2344=)
c.*6774T>A (n.*6774T>A)
n.5466T>A
n.377T>A
c.7143T>A (p.Leu2381=)
c.7059T>A (p.Leu2353=)
c.7029T>A (p.Leu2343=)
c.6981T>A (p.Leu2327=)
c.6942T>A (p.Leu2314=)
c.6867T>A (p.Leu2289=)
n.8738T>A
c.7056T>A (p.Leu2352=)
c.7026T>A (p.Leu2342=)
c.6978T>A (p.Leu2326=)
c.6945T>A (p.Leu2315=)
c.6915T>A (p.Leu2305=)
c.6912T>A (p.Leu2304=)
c.6864T>A (p.Leu2288=)
c.6828T>A (p.Leu2276=)
c.6825T>A (p.Leu2275=)
c.6780T>A (p.Leu2260=)
n.7445T>A
Xg.77520843A>CCA413707160ATRXc.7145T>G (p.Leu2382Arg)
c.2243T>G (p.Leu748Arg)
c.7031T>G (p.Leu2344Arg)
c.*6773T>G (n.*6773T>G)
n.5465T>G
n.376T>G
c.7142T>G (p.Leu2381Arg)
c.7058T>G (p.Leu2353Arg)
c.7028T>G (p.Leu2343Arg)
c.6980T>G (p.Leu2327Arg)
c.6941T>G (p.Leu2314Arg)
c.6866T>G (p.Leu2289Arg)
n.8737T>G
c.7055T>G (p.Leu2352Arg)
c.7025T>G (p.Leu2342Arg)
c.6977T>G (p.Leu2326Arg)
c.6944T>G (p.Leu2315Arg)
c.6914T>G (p.Leu2305Arg)
c.6911T>G (p.Leu2304Arg)
c.6863T>G (p.Leu2288Arg)
c.6827T>G (p.Leu2276Arg)
c.6824T>G (p.Leu2275Arg)
c.6779T>G (p.Leu2260Arg)
n.7444T>G
Xg.77520843A>GCA413707158ATRXc.7145T>C (p.Leu2382Pro)
c.2243T>C (p.Leu748Pro)
c.7031T>C (p.Leu2344Pro)
c.*6773T>C (n.*6773T>C)
n.5465T>C
n.376T>C
c.7142T>C (p.Leu2381Pro)
c.7058T>C (p.Leu2353Pro)
c.7028T>C (p.Leu2343Pro)
c.6980T>C (p.Leu2327Pro)
c.6941T>C (p.Leu2314Pro)
c.6866T>C (p.Leu2289Pro)
n.8737T>C
c.7055T>C (p.Leu2352Pro)
c.7025T>C (p.Leu2342Pro)
c.6977T>C (p.Leu2326Pro)
c.6944T>C (p.Leu2315Pro)
c.6914T>C (p.Leu2305Pro)
c.6911T>C (p.Leu2304Pro)
c.6863T>C (p.Leu2288Pro)
c.6827T>C (p.Leu2276Pro)
c.6824T>C (p.Leu2275Pro)
c.6779T>C (p.Leu2260Pro)
n.7444T>C
Xg.77520843A>TCA413707156ATRXc.7145T>A (p.Leu2382His)
c.2243T>A (p.Leu748His)
c.7031T>A (p.Leu2344His)
c.*6773T>A (n.*6773T>A)
n.5465T>A
n.376T>A
c.7142T>A (p.Leu2381His)
c.7058T>A (p.Leu2353His)
c.7028T>A (p.Leu2343His)
c.6980T>A (p.Leu2327His)
c.6941T>A (p.Leu2314His)
c.6866T>A (p.Leu2289His)
n.8737T>A
c.7055T>A (p.Leu2352His)
c.7025T>A (p.Leu2342His)
c.6977T>A (p.Leu2326His)
c.6944T>A (p.Leu2315His)
c.6914T>A (p.Leu2305His)
c.6911T>A (p.Leu2304His)
c.6863T>A (p.Leu2288His)
c.6827T>A (p.Leu2276His)
c.6824T>A (p.Leu2275His)
c.6779T>A (p.Leu2260His)
n.7444T>A
Xg.77520844G>ACA413707162ATRXc.7144C>T (p.Leu2382Phe)
c.2242C>T (p.Leu748Phe)
c.7030C>T (p.Leu2344Phe)
c.*6772C>T (n.*6772C>T)
n.5464C>T
n.375C>T
c.7141C>T (p.Leu2381Phe)
c.7057C>T (p.Leu2353Phe)
c.7027C>T (p.Leu2343Phe)
c.6979C>T (p.Leu2327Phe)
c.6940C>T (p.Leu2314Phe)
c.6865C>T (p.Leu2289Phe)
n.8736C>T
c.7054C>T (p.Leu2352Phe)
c.7024C>T (p.Leu2342Phe)
c.6976C>T (p.Leu2326Phe)
c.6943C>T (p.Leu2315Phe)
c.6913C>T (p.Leu2305Phe)
c.6910C>T (p.Leu2304Phe)
c.6862C>T (p.Leu2288Phe)
c.6826C>T (p.Leu2276Phe)
c.6823C>T (p.Leu2275Phe)
c.6778C>T (p.Leu2260Phe)
n.7443C>T
 gnomAD v4
Xg.77520844G>CCA413707163ATRXc.7144C>G (p.Leu2382Val)
c.2242C>G (p.Leu748Val)
c.7030C>G (p.Leu2344Val)
c.*6772C>G (n.*6772C>G)
n.5464C>G
n.375C>G
c.7141C>G (p.Leu2381Val)
c.7057C>G (p.Leu2353Val)
c.7027C>G (p.Leu2343Val)
c.6979C>G (p.Leu2327Val)
c.6940C>G (p.Leu2314Val)
c.6865C>G (p.Leu2289Val)
n.8736C>G
c.7054C>G (p.Leu2352Val)
c.7024C>G (p.Leu2342Val)
c.6976C>G (p.Leu2326Val)
c.6943C>G (p.Leu2315Val)
c.6913C>G (p.Leu2305Val)
c.6910C>G (p.Leu2304Val)
c.6862C>G (p.Leu2288Val)
c.6826C>G (p.Leu2276Val)
c.6823C>G (p.Leu2275Val)
c.6778C>G (p.Leu2260Val)
n.7443C>G
Xg.77520844G>TCA413707165ATRXc.7144C>A (p.Leu2382Ile)
c.2242C>A (p.Leu748Ile)
c.7030C>A (p.Leu2344Ile)
c.*6772C>A (n.*6772C>A)
n.5464C>A
n.375C>A
c.7141C>A (p.Leu2381Ile)
c.7057C>A (p.Leu2353Ile)
c.7027C>A (p.Leu2343Ile)
c.6979C>A (p.Leu2327Ile)
c.6940C>A (p.Leu2314Ile)
c.6865C>A (p.Leu2289Ile)
n.8736C>A
c.7054C>A (p.Leu2352Ile)
c.7024C>A (p.Leu2342Ile)
c.6976C>A (p.Leu2326Ile)
c.6943C>A (p.Leu2315Ile)
c.6913C>A (p.Leu2305Ile)
c.6910C>A (p.Leu2304Ile)
c.6862C>A (p.Leu2288Ile)
c.6826C>A (p.Leu2276Ile)
c.6823C>A (p.Leu2275Ile)
c.6778C>A (p.Leu2260Ile)
n.7443C>A
Xg.77520845C>ACA413707167ATRXc.7143G>T (p.Glu2381Asp)
c.2241G>T (p.Glu747Asp)
c.7029G>T (p.Glu2343Asp)
c.*6771G>T (n.*6771G>T)
n.5463G>T
n.374G>T
c.7140G>T (p.Glu2380Asp)
c.7056G>T (p.Glu2352Asp)
c.7026G>T (p.Glu2342Asp)
c.6978G>T (p.Glu2326Asp)
c.6939G>T (p.Glu2313Asp)
c.6864G>T (p.Glu2288Asp)
n.8735G>T
c.7053G>T (p.Glu2351Asp)
c.7023G>T (p.Glu2341Asp)
c.6975G>T (p.Glu2325Asp)
c.6942G>T (p.Glu2314Asp)
c.6912G>T (p.Glu2304Asp)
c.6909G>T (p.Glu2303Asp)
c.6861G>T (p.Glu2287Asp)
c.6825G>T (p.Glu2275Asp)
c.6822G>T (p.Glu2274Asp)
c.6777G>T (p.Glu2259Asp)
n.7442G>T
Xg.77520845C>GCA413707169ATRXc.7143G>C (p.Glu2381Asp)
c.2241G>C (p.Glu747Asp)
c.7029G>C (p.Glu2343Asp)
c.*6771G>C (n.*6771G>C)
n.5463G>C
n.374G>C
c.7140G>C (p.Glu2380Asp)
c.7056G>C (p.Glu2352Asp)
c.7026G>C (p.Glu2342Asp)
c.6978G>C (p.Glu2326Asp)
c.6939G>C (p.Glu2313Asp)
c.6864G>C (p.Glu2288Asp)
n.8735G>C
c.7053G>C (p.Glu2351Asp)
c.7023G>C (p.Glu2341Asp)
c.6975G>C (p.Glu2325Asp)
c.6942G>C (p.Glu2314Asp)
c.6912G>C (p.Glu2304Asp)
c.6909G>C (p.Glu2303Asp)
c.6861G>C (p.Glu2287Asp)
c.6825G>C (p.Glu2275Asp)
c.6822G>C (p.Glu2274Asp)
c.6777G>C (p.Glu2259Asp)
n.7442G>C
Xg.77520845C>TCA517374396ATRXc.7143G>A (p.Glu2381=)
c.2241G>A (p.Glu747=)
c.7029G>A (p.Glu2343=)
c.*6771G>A (n.*6771G>A)
n.5463G>A
n.374G>A
c.7140G>A (p.Glu2380=)
c.7056G>A (p.Glu2352=)
c.7026G>A (p.Glu2342=)
c.6978G>A (p.Glu2326=)
c.6939G>A (p.Glu2313=)
c.6864G>A (p.Glu2288=)
n.8735G>A
c.7053G>A (p.Glu2351=)
c.7023G>A (p.Glu2341=)
c.6975G>A (p.Glu2325=)
c.6942G>A (p.Glu2314=)
c.6912G>A (p.Glu2304=)
c.6909G>A (p.Glu2303=)
c.6861G>A (p.Glu2287=)
c.6825G>A (p.Glu2275=)
c.6822G>A (p.Glu2274=)
c.6777G>A (p.Glu2259=)
n.7442G>A
 ClinVar dbSNP COSMIC COSMIC
Xg.77520846T>ACA413707172ATRXc.7142A>T (p.Glu2381Val)
c.2240A>T (p.Glu747Val)
c.7028A>T (p.Glu2343Val)
c.*6770A>T (n.*6770A>T)
n.5462A>T
n.373A>T
c.7139A>T (p.Glu2380Val)
c.7055A>T (p.Glu2352Val)
c.7025A>T (p.Glu2342Val)
c.6977A>T (p.Glu2326Val)
c.6938A>T (p.Glu2313Val)
c.6863A>T (p.Glu2288Val)
n.8734A>T
c.7052A>T (p.Glu2351Val)
c.7022A>T (p.Glu2341Val)
c.6974A>T (p.Glu2325Val)
c.6941A>T (p.Glu2314Val)
c.6911A>T (p.Glu2304Val)
c.6908A>T (p.Glu2303Val)
c.6860A>T (p.Glu2287Val)
c.6824A>T (p.Glu2275Val)
c.6821A>T (p.Glu2274Val)
c.6776A>T (p.Glu2259Val)
n.7441A>T
Xg.77520846T>CCA413707173ATRXc.7142A>G (p.Glu2381Gly)
c.2240A>G (p.Glu747Gly)
c.7028A>G (p.Glu2343Gly)
c.*6770A>G (n.*6770A>G)
n.5462A>G
n.373A>G
c.7139A>G (p.Glu2380Gly)
c.7055A>G (p.Glu2352Gly)
c.7025A>G (p.Glu2342Gly)
c.6977A>G (p.Glu2326Gly)
c.6938A>G (p.Glu2313Gly)
c.6863A>G (p.Glu2288Gly)
n.8734A>G
c.7052A>G (p.Glu2351Gly)
c.7022A>G (p.Glu2341Gly)
c.6974A>G (p.Glu2325Gly)
c.6941A>G (p.Glu2314Gly)
c.6911A>G (p.Glu2304Gly)
c.6908A>G (p.Glu2303Gly)
c.6860A>G (p.Glu2287Gly)
c.6824A>G (p.Glu2275Gly)
c.6821A>G (p.Glu2274Gly)
c.6776A>G (p.Glu2259Gly)
n.7441A>G
Xg.77520846T>GCA413707174ATRXc.7142A>C (p.Glu2381Ala)
c.2240A>C (p.Glu747Ala)
c.7028A>C (p.Glu2343Ala)
c.*6770A>C (n.*6770A>C)
n.5462A>C
n.373A>C
c.7139A>C (p.Glu2380Ala)
c.7055A>C (p.Glu2352Ala)
c.7025A>C (p.Glu2342Ala)
c.6977A>C (p.Glu2326Ala)
c.6938A>C (p.Glu2313Ala)
c.6863A>C (p.Glu2288Ala)
n.8734A>C
c.7052A>C (p.Glu2351Ala)
c.7022A>C (p.Glu2341Ala)
c.6974A>C (p.Glu2325Ala)
c.6941A>C (p.Glu2314Ala)
c.6911A>C (p.Glu2304Ala)
c.6908A>C (p.Glu2303Ala)
c.6860A>C (p.Glu2287Ala)
c.6824A>C (p.Glu2275Ala)
c.6821A>C (p.Glu2274Ala)
c.6776A>C (p.Glu2259Ala)
n.7441A>C
Xg.77520847C>ACA413707176ATRXc.7141G>T (p.Glu2381Ter)
c.2239G>T (p.Glu747Ter)
c.7027G>T (p.Glu2343Ter)
c.*6769G>T (n.*6769G>T)
n.5461G>T
n.372G>T
c.7138G>T (p.Glu2380Ter)
c.7054G>T (p.Glu2352Ter)
c.7024G>T (p.Glu2342Ter)
c.6976G>T (p.Glu2326Ter)
c.6937G>T (p.Glu2313Ter)
c.6862G>T (p.Glu2288Ter)
n.8733G>T
c.7051G>T (p.Glu2351Ter)
c.7021G>T (p.Glu2341Ter)
c.6973G>T (p.Glu2325Ter)
c.6940G>T (p.Glu2314Ter)
c.6910G>T (p.Glu2304Ter)
c.6907G>T (p.Glu2303Ter)
c.6859G>T (p.Glu2287Ter)
c.6823G>T (p.Glu2275Ter)
c.6820G>T (p.Glu2274Ter)
c.6775G>T (p.Glu2259Ter)
n.7440G>T
 ClinVar dbSNP
Xg.77520847C=CA2438933067ATRXc.7141G= (p.Glu2381=)
c.2239G= (p.Glu747=)
c.7027G= (p.Glu2343=)
c.*6769G= (n.*6769G=)
n.5461G=
n.372G=
c.7138G= (p.Glu2380=)
c.7054G= (p.Glu2352=)
c.7024G= (p.Glu2342=)
c.6976G= (p.Glu2326=)
c.6937G= (p.Glu2313=)
c.6862G= (p.Glu2288=)
n.8733G=
c.7051G= (p.Glu2351=)
c.7021G= (p.Glu2341=)
c.6973G= (p.Glu2325=)
c.6940G= (p.Glu2314=)
c.6910G= (p.Glu2304=)
c.6907G= (p.Glu2303=)
c.6859G= (p.Glu2287=)
c.6823G= (p.Glu2275=)
c.6820G= (p.Glu2274=)
c.6775G= (p.Glu2259=)
n.7440G=
Xg.77520847C>GCA413707178ATRXc.7141G>C (p.Glu2381Gln)
c.2239G>C (p.Glu747Gln)
c.7027G>C (p.Glu2343Gln)
c.*6769G>C (n.*6769G>C)
n.5461G>C
n.372G>C
c.7138G>C (p.Glu2380Gln)
c.7054G>C (p.Glu2352Gln)
c.7024G>C (p.Glu2342Gln)
c.6976G>C (p.Glu2326Gln)
c.6937G>C (p.Glu2313Gln)
c.6862G>C (p.Glu2288Gln)
n.8733G>C
c.7051G>C (p.Glu2351Gln)
c.7021G>C (p.Glu2341Gln)
c.6973G>C (p.Glu2325Gln)
c.6940G>C (p.Glu2314Gln)
c.6910G>C (p.Glu2304Gln)
c.6907G>C (p.Glu2303Gln)
c.6859G>C (p.Glu2287Gln)
c.6823G>C (p.Glu2275Gln)
c.6820G>C (p.Glu2274Gln)
c.6775G>C (p.Glu2259Gln)
n.7440G>C
Xg.77520847C>TCA413707180ATRXc.7141G>A (p.Glu2381Lys)
c.2239G>A (p.Glu747Lys)
c.7027G>A (p.Glu2343Lys)
c.*6769G>A (n.*6769G>A)
n.5461G>A
n.372G>A
c.7138G>A (p.Glu2380Lys)
c.7054G>A (p.Glu2352Lys)
c.7024G>A (p.Glu2342Lys)
c.6976G>A (p.Glu2326Lys)
c.6937G>A (p.Glu2313Lys)
c.6862G>A (p.Glu2288Lys)
n.8733G>A
c.7051G>A (p.Glu2351Lys)
c.7021G>A (p.Glu2341Lys)
c.6973G>A (p.Glu2325Lys)
c.6940G>A (p.Glu2314Lys)
c.6910G>A (p.Glu2304Lys)
c.6907G>A (p.Glu2303Lys)
c.6859G>A (p.Glu2287Lys)
c.6823G>A (p.Glu2275Lys)
c.6820G>A (p.Glu2274Lys)
c.6775G>A (p.Glu2259Lys)
n.7440G>A
 ClinVar dbSNP
Xg.77520848C>ACA413707182ATRXc.7140G>T (p.Gln2380His)
c.2238G>T (p.Gln746His)
c.7026G>T (p.Gln2342His)
c.*6768G>T (n.*6768G>T)
n.5460G>T
n.371G>T
c.7137G>T (p.Gln2379His)
c.7053G>T (p.Gln2351His)
c.7023G>T (p.Gln2341His)
c.6975G>T (p.Gln2325His)
c.6936G>T (p.Gln2312His)
c.6861G>T (p.Gln2287His)
n.8732G>T
c.7050G>T (p.Gln2350His)
c.7020G>T (p.Gln2340His)
c.6972G>T (p.Gln2324His)
c.6939G>T (p.Gln2313His)
c.6909G>T (p.Gln2303His)
c.6906G>T (p.Gln2302His)
c.6858G>T (p.Gln2286His)
c.6822G>T (p.Gln2274His)
c.6819G>T (p.Gln2273His)
c.6774G>T (p.Gln2258His)
n.7439G>T
Xg.77520848C>GCA413707184ATRXc.7140G>C (p.Gln2380His)
c.2238G>C (p.Gln746His)
c.7026G>C (p.Gln2342His)
c.*6768G>C (n.*6768G>C)
n.5460G>C
n.371G>C
c.7137G>C (p.Gln2379His)
c.7053G>C (p.Gln2351His)
c.7023G>C (p.Gln2341His)
c.6975G>C (p.Gln2325His)
c.6936G>C (p.Gln2312His)
c.6861G>C (p.Gln2287His)
n.8732G>C
c.7050G>C (p.Gln2350His)
c.7020G>C (p.Gln2340His)
c.6972G>C (p.Gln2324His)
c.6939G>C (p.Gln2313His)
c.6909G>C (p.Gln2303His)
c.6906G>C (p.Gln2302His)
c.6858G>C (p.Gln2286His)
c.6822G>C (p.Gln2274His)
c.6819G>C (p.Gln2273His)
c.6774G>C (p.Gln2258His)
n.7439G>C
Xg.77520848C>TCA517374398ATRXc.7140G>A (p.Gln2380=)
c.2238G>A (p.Gln746=)
c.7026G>A (p.Gln2342=)
c.*6768G>A (n.*6768G>A)
n.5460G>A
n.371G>A
c.7137G>A (p.Gln2379=)
c.7053G>A (p.Gln2351=)
c.7023G>A (p.Gln2341=)
c.6975G>A (p.Gln2325=)
c.6936G>A (p.Gln2312=)
c.6861G>A (p.Gln2287=)
n.8732G>A
c.7050G>A (p.Gln2350=)
c.7020G>A (p.Gln2340=)
c.6972G>A (p.Gln2324=)
c.6939G>A (p.Gln2313=)
c.6909G>A (p.Gln2303=)
c.6906G>A (p.Gln2302=)
c.6858G>A (p.Gln2286=)
c.6822G>A (p.Gln2274=)
c.6819G>A (p.Gln2273=)
c.6774G>A (p.Gln2258=)
n.7439G>A
Xg.77520849T>ACA413707190ATRXc.7139A>T (p.Gln2380Leu)
c.2237A>T (p.Gln746Leu)
c.7025A>T (p.Gln2342Leu)
c.*6767A>T (n.*6767A>T)
n.5459A>T
n.370A>T
c.7136A>T (p.Gln2379Leu)
c.7052A>T (p.Gln2351Leu)
c.7022A>T (p.Gln2341Leu)
c.6974A>T (p.Gln2325Leu)
c.6935A>T (p.Gln2312Leu)
c.6860A>T (p.Gln2287Leu)
n.8731A>T
c.7049A>T (p.Gln2350Leu)
c.7019A>T (p.Gln2340Leu)
c.6971A>T (p.Gln2324Leu)
c.6938A>T (p.Gln2313Leu)
c.6908A>T (p.Gln2303Leu)
c.6905A>T (p.Gln2302Leu)
c.6857A>T (p.Gln2286Leu)
c.6821A>T (p.Gln2274Leu)
c.6818A>T (p.Gln2273Leu)
c.6773A>T (p.Gln2258Leu)
n.7438A>T
 ClinVar gnomAD v4
Xg.77520849T>CCA413707188ATRXc.7139A>G (p.Gln2380Arg)
c.2237A>G (p.Gln746Arg)
c.7025A>G (p.Gln2342Arg)
c.*6767A>G (n.*6767A>G)
n.5459A>G
n.370A>G
c.7136A>G (p.Gln2379Arg)
c.7052A>G (p.Gln2351Arg)
c.7022A>G (p.Gln2341Arg)
c.6974A>G (p.Gln2325Arg)
c.6935A>G (p.Gln2312Arg)
c.6860A>G (p.Gln2287Arg)
n.8731A>G
c.7049A>G (p.Gln2350Arg)
c.7019A>G (p.Gln2340Arg)
c.6971A>G (p.Gln2324Arg)
c.6938A>G (p.Gln2313Arg)
c.6908A>G (p.Gln2303Arg)
c.6905A>G (p.Gln2302Arg)
c.6857A>G (p.Gln2286Arg)
c.6821A>G (p.Gln2274Arg)
c.6818A>G (p.Gln2273Arg)
c.6773A>G (p.Gln2258Arg)
n.7438A>G
Xg.77520849T>GCA413707186ATRXc.7139A>C (p.Gln2380Pro)
c.2237A>C (p.Gln746Pro)
c.7025A>C (p.Gln2342Pro)
c.*6767A>C (n.*6767A>C)
n.5459A>C
n.370A>C
c.7136A>C (p.Gln2379Pro)
c.7052A>C (p.Gln2351Pro)
c.7022A>C (p.Gln2341Pro)
c.6974A>C (p.Gln2325Pro)
c.6935A>C (p.Gln2312Pro)
c.6860A>C (p.Gln2287Pro)
n.8731A>C
c.7049A>C (p.Gln2350Pro)
c.7019A>C (p.Gln2340Pro)
c.6971A>C (p.Gln2324Pro)
c.6938A>C (p.Gln2313Pro)
c.6908A>C (p.Gln2303Pro)
c.6905A>C (p.Gln2302Pro)
c.6857A>C (p.Gln2286Pro)
c.6821A>C (p.Gln2274Pro)
c.6818A>C (p.Gln2273Pro)
c.6773A>C (p.Gln2258Pro)
n.7438A>C
Xg.77520850G>ACA413707192ATRXc.7138C>T (p.Gln2380Ter)
c.2236C>T (p.Gln746Ter)
c.7024C>T (p.Gln2342Ter)
c.*6766C>T (n.*6766C>T)
n.5458C>T
n.369C>T
c.7135C>T (p.Gln2379Ter)
c.7051C>T (p.Gln2351Ter)
c.7021C>T (p.Gln2341Ter)
c.6973C>T (p.Gln2325Ter)
c.6934C>T (p.Gln2312Ter)
c.6859C>T (p.Gln2287Ter)
n.8730C>T
c.7048C>T (p.Gln2350Ter)
c.7018C>T (p.Gln2340Ter)
c.6970C>T (p.Gln2324Ter)
c.6937C>T (p.Gln2313Ter)
c.6907C>T (p.Gln2303Ter)
c.6904C>T (p.Gln2302Ter)
c.6856C>T (p.Gln2286Ter)
c.6820C>T (p.Gln2274Ter)
c.6817C>T (p.Gln2273Ter)
c.6772C>T (p.Gln2258Ter)
n.7437C>T
Xg.77520850G>CCA413707191ATRXc.7138C>G (p.Gln2380Glu)
c.2236C>G (p.Gln746Glu)
c.7024C>G (p.Gln2342Glu)
c.*6766C>G (n.*6766C>G)
n.5458C>G
n.369C>G
c.7135C>G (p.Gln2379Glu)
c.7051C>G (p.Gln2351Glu)
c.7021C>G (p.Gln2341Glu)
c.6973C>G (p.Gln2325Glu)
c.6934C>G (p.Gln2312Glu)
c.6859C>G (p.Gln2287Glu)
n.8730C>G
c.7048C>G (p.Gln2350Glu)
c.7018C>G (p.Gln2340Glu)
c.6970C>G (p.Gln2324Glu)
c.6937C>G (p.Gln2313Glu)
c.6907C>G (p.Gln2303Glu)
c.6904C>G (p.Gln2302Glu)
c.6856C>G (p.Gln2286Glu)
c.6820C>G (p.Gln2274Glu)
c.6817C>G (p.Gln2273Glu)
c.6772C>G (p.Gln2258Glu)
n.7437C>G
Xg.77520850G>TCA413707194ATRXc.7138C>A (p.Gln2380Lys)
c.2236C>A (p.Gln746Lys)
c.7024C>A (p.Gln2342Lys)
c.*6766C>A (n.*6766C>A)
n.5458C>A
n.369C>A
c.7135C>A (p.Gln2379Lys)
c.7051C>A (p.Gln2351Lys)
c.7021C>A (p.Gln2341Lys)
c.6973C>A (p.Gln2325Lys)
c.6934C>A (p.Gln2312Lys)
c.6859C>A (p.Gln2287Lys)
n.8730C>A
c.7048C>A (p.Gln2350Lys)
c.7018C>A (p.Gln2340Lys)
c.6970C>A (p.Gln2324Lys)
c.6937C>A (p.Gln2313Lys)
c.6907C>A (p.Gln2303Lys)
c.6904C>A (p.Gln2302Lys)
c.6856C>A (p.Gln2286Lys)
c.6820C>A (p.Gln2274Lys)
c.6817C>A (p.Gln2273Lys)
c.6772C>A (p.Gln2258Lys)
n.7437C>A
Xg.77520851G>ACA517374399ATRXc.7137C>T (p.Ser2379=)
c.2235C>T (p.Ser745=)
c.7023C>T (p.Ser2341=)
c.*6765C>T (n.*6765C>T)
n.5457C>T
n.368C>T
c.7134C>T (p.Ser2378=)
c.7050C>T (p.Ser2350=)
c.7020C>T (p.Ser2340=)
c.6972C>T (p.Ser2324=)
c.6933C>T (p.Ser2311=)
c.6858C>T (p.Ser2286=)
n.8729C>T
c.7047C>T (p.Ser2349=)
c.7017C>T (p.Ser2339=)
c.6969C>T (p.Ser2323=)
c.6936C>T (p.Ser2312=)
c.6906C>T (p.Ser2302=)
c.6903C>T (p.Ser2301=)
c.6855C>T (p.Ser2285=)
c.6819C>T (p.Ser2273=)
c.6816C>T (p.Ser2272=)
c.6771C>T (p.Ser2257=)
n.7436C>T
 dbSNP
Xg.77520851G>CCA413707196ATRXc.7137C>G (p.Ser2379Arg)
c.2235C>G (p.Ser745Arg)
c.7023C>G (p.Ser2341Arg)
c.*6765C>G (n.*6765C>G)
n.5457C>G
n.368C>G
c.7134C>G (p.Ser2378Arg)
c.7050C>G (p.Ser2350Arg)
c.7020C>G (p.Ser2340Arg)
c.6972C>G (p.Ser2324Arg)
c.6933C>G (p.Ser2311Arg)
c.6858C>G (p.Ser2286Arg)
n.8729C>G
c.7047C>G (p.Ser2349Arg)
c.7017C>G (p.Ser2339Arg)
c.6969C>G (p.Ser2323Arg)
c.6936C>G (p.Ser2312Arg)
c.6906C>G (p.Ser2302Arg)
c.6903C>G (p.Ser2301Arg)
c.6855C>G (p.Ser2285Arg)
c.6819C>G (p.Ser2273Arg)
c.6816C>G (p.Ser2272Arg)
c.6771C>G (p.Ser2257Arg)
n.7436C>G
Xg.77520851G=CA2438933068ATRXc.7137C= (p.Ser2379=)
c.2235C= (p.Ser745=)
c.7023C= (p.Ser2341=)
c.*6765C= (n.*6765C=)
n.5457C=
n.368C=
c.7134C= (p.Ser2378=)
c.7050C= (p.Ser2350=)
c.7020C= (p.Ser2340=)
c.6972C= (p.Ser2324=)
c.6933C= (p.Ser2311=)
c.6858C= (p.Ser2286=)
n.8729C=
c.7047C= (p.Ser2349=)
c.7017C= (p.Ser2339=)
c.6969C= (p.Ser2323=)
c.6936C= (p.Ser2312=)
c.6906C= (p.Ser2302=)
c.6903C= (p.Ser2301=)
c.6855C= (p.Ser2285=)
c.6819C= (p.Ser2273=)
c.6816C= (p.Ser2272=)
c.6771C= (p.Ser2257=)
n.7436C=
Xg.77520851G>TCA413707198ATRXc.7137C>A (p.Ser2379Arg)
c.2235C>A (p.Ser745Arg)
c.7023C>A (p.Ser2341Arg)
c.*6765C>A (n.*6765C>A)
n.5457C>A
n.368C>A
c.7134C>A (p.Ser2378Arg)
c.7050C>A (p.Ser2350Arg)
c.7020C>A (p.Ser2340Arg)
c.6972C>A (p.Ser2324Arg)
c.6933C>A (p.Ser2311Arg)
c.6858C>A (p.Ser2286Arg)
n.8729C>A
c.7047C>A (p.Ser2349Arg)
c.7017C>A (p.Ser2339Arg)
c.6969C>A (p.Ser2323Arg)
c.6936C>A (p.Ser2312Arg)
c.6906C>A (p.Ser2302Arg)
c.6903C>A (p.Ser2301Arg)
c.6855C>A (p.Ser2285Arg)
c.6819C>A (p.Ser2273Arg)
c.6816C>A (p.Ser2272Arg)
c.6771C>A (p.Ser2257Arg)
n.7436C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.77520852C>ACA413707201ATRXc.7136G>T (p.Ser2379Ile)
c.2234G>T (p.Ser745Ile)
c.7022G>T (p.Ser2341Ile)
c.*6764G>T (n.*6764G>T)
n.5456G>T
n.367G>T
c.7133G>T (p.Ser2378Ile)
c.7049G>T (p.Ser2350Ile)
c.7019G>T (p.Ser2340Ile)
c.6971G>T (p.Ser2324Ile)
c.6932G>T (p.Ser2311Ile)
c.6857G>T (p.Ser2286Ile)
n.8728G>T
c.7046G>T (p.Ser2349Ile)
c.7016G>T (p.Ser2339Ile)
c.6968G>T (p.Ser2323Ile)
c.6935G>T (p.Ser2312Ile)
c.6905G>T (p.Ser2302Ile)
c.6902G>T (p.Ser2301Ile)
c.6854G>T (p.Ser2285Ile)
c.6818G>T (p.Ser2273Ile)
c.6815G>T (p.Ser2272Ile)
c.6770G>T (p.Ser2257Ile)
n.7435G>T
Xg.77520852C>GCA413707202ATRXc.7136G>C (p.Ser2379Thr)
c.2234G>C (p.Ser745Thr)
c.7022G>C (p.Ser2341Thr)
c.*6764G>C (n.*6764G>C)
n.5456G>C
n.367G>C
c.7133G>C (p.Ser2378Thr)
c.7049G>C (p.Ser2350Thr)
c.7019G>C (p.Ser2340Thr)
c.6971G>C (p.Ser2324Thr)
c.6932G>C (p.Ser2311Thr)
c.6857G>C (p.Ser2286Thr)
n.8728G>C
c.7046G>C (p.Ser2349Thr)
c.7016G>C (p.Ser2339Thr)
c.6968G>C (p.Ser2323Thr)
c.6935G>C (p.Ser2312Thr)
c.6905G>C (p.Ser2302Thr)
c.6902G>C (p.Ser2301Thr)
c.6854G>C (p.Ser2285Thr)
c.6818G>C (p.Ser2273Thr)
c.6815G>C (p.Ser2272Thr)
c.6770G>C (p.Ser2257Thr)
n.7435G>C
Xg.77520852C>TCA413707203ATRXc.7136G>A (p.Ser2379Asn)
c.2234G>A (p.Ser745Asn)
c.7022G>A (p.Ser2341Asn)
c.*6764G>A (n.*6764G>A)
n.5456G>A
n.367G>A
c.7133G>A (p.Ser2378Asn)
c.7049G>A (p.Ser2350Asn)
c.7019G>A (p.Ser2340Asn)
c.6971G>A (p.Ser2324Asn)
c.6932G>A (p.Ser2311Asn)
c.6857G>A (p.Ser2286Asn)
n.8728G>A
c.7046G>A (p.Ser2349Asn)
c.7016G>A (p.Ser2339Asn)
c.6968G>A (p.Ser2323Asn)
c.6935G>A (p.Ser2312Asn)
c.6905G>A (p.Ser2302Asn)
c.6902G>A (p.Ser2301Asn)
c.6854G>A (p.Ser2285Asn)
c.6818G>A (p.Ser2273Asn)
c.6815G>A (p.Ser2272Asn)
c.6770G>A (p.Ser2257Asn)
n.7435G>A
Xg.77520853T>ACA413707206ATRXc.7135A>T (p.Ser2379Cys)
c.2233A>T (p.Ser745Cys)
c.7021A>T (p.Ser2341Cys)
c.*6763A>T (n.*6763A>T)
n.5455A>T
n.366A>T
c.7132A>T (p.Ser2378Cys)
c.7048A>T (p.Ser2350Cys)
c.7018A>T (p.Ser2340Cys)
c.6970A>T (p.Ser2324Cys)
c.6931A>T (p.Ser2311Cys)
c.6856A>T (p.Ser2286Cys)
n.8727A>T
c.7045A>T (p.Ser2349Cys)
c.7015A>T (p.Ser2339Cys)
c.6967A>T (p.Ser2323Cys)
c.6934A>T (p.Ser2312Cys)
c.6904A>T (p.Ser2302Cys)
c.6901A>T (p.Ser2301Cys)
c.6853A>T (p.Ser2285Cys)
c.6817A>T (p.Ser2273Cys)
c.6814A>T (p.Ser2272Cys)
c.6769A>T (p.Ser2257Cys)
n.7434A>T
Xg.77520853T>CCA413707214ATRXc.7135A>G (p.Ser2379Gly)
c.2233A>G (p.Ser745Gly)
c.7021A>G (p.Ser2341Gly)
c.*6763A>G (n.*6763A>G)
n.5455A>G
n.366A>G
c.7132A>G (p.Ser2378Gly)
c.7048A>G (p.Ser2350Gly)
c.7018A>G (p.Ser2340Gly)
c.6970A>G (p.Ser2324Gly)
c.6931A>G (p.Ser2311Gly)
c.6856A>G (p.Ser2286Gly)
n.8727A>G
c.7045A>G (p.Ser2349Gly)
c.7015A>G (p.Ser2339Gly)
c.6967A>G (p.Ser2323Gly)
c.6934A>G (p.Ser2312Gly)
c.6904A>G (p.Ser2302Gly)
c.6901A>G (p.Ser2301Gly)
c.6853A>G (p.Ser2285Gly)
c.6817A>G (p.Ser2273Gly)
c.6814A>G (p.Ser2272Gly)
c.6769A>G (p.Ser2257Gly)
n.7434A>G
Xg.77520853T>GCA413707216ATRXc.7135A>C (p.Ser2379Arg)
c.2233A>C (p.Ser745Arg)
c.7021A>C (p.Ser2341Arg)
c.*6763A>C (n.*6763A>C)
n.5455A>C
n.366A>C
c.7132A>C (p.Ser2378Arg)
c.7048A>C (p.Ser2350Arg)
c.7018A>C (p.Ser2340Arg)
c.6970A>C (p.Ser2324Arg)
c.6931A>C (p.Ser2311Arg)
c.6856A>C (p.Ser2286Arg)
n.8727A>C
c.7045A>C (p.Ser2349Arg)
c.7015A>C (p.Ser2339Arg)
c.6967A>C (p.Ser2323Arg)
c.6934A>C (p.Ser2312Arg)
c.6904A>C (p.Ser2302Arg)
c.6901A>C (p.Ser2301Arg)
c.6853A>C (p.Ser2285Arg)
c.6817A>C (p.Ser2273Arg)
c.6814A>C (p.Ser2272Arg)
c.6769A>C (p.Ser2257Arg)
n.7434A>C
Xg.77520854G>ACA517374400ATRXc.7134C>T (p.Ala2378=)
c.2232C>T (p.Ala744=)
c.7020C>T (p.Ala2340=)
c.*6762C>T (n.*6762C>T)
n.5454C>T
n.365C>T
c.7131C>T (p.Ala2377=)
c.7047C>T (p.Ala2349=)
c.7017C>T (p.Ala2339=)
c.6969C>T (p.Ala2323=)
c.6930C>T (p.Ala2310=)
c.6855C>T (p.Ala2285=)
n.8726C>T
c.7044C>T (p.Ala2348=)
c.7014C>T (p.Ala2338=)
c.6966C>T (p.Ala2322=)
c.6933C>T (p.Ala2311=)
c.6903C>T (p.Ala2301=)
c.6900C>T (p.Ala2300=)
c.6852C>T (p.Ala2284=)
c.6816C>T (p.Ala2272=)
c.6813C>T (p.Ala2271=)
c.6768C>T (p.Ala2256=)
n.7433C>T
Xg.77520854G>CCA517374402ATRXc.7134C>G (p.Ala2378=)
c.2232C>G (p.Ala744=)
c.7020C>G (p.Ala2340=)
c.*6762C>G (n.*6762C>G)
n.5454C>G
n.365C>G
c.7131C>G (p.Ala2377=)
c.7047C>G (p.Ala2349=)
c.7017C>G (p.Ala2339=)
c.6969C>G (p.Ala2323=)
c.6930C>G (p.Ala2310=)
c.6855C>G (p.Ala2285=)
n.8726C>G
c.7044C>G (p.Ala2348=)
c.7014C>G (p.Ala2338=)
c.6966C>G (p.Ala2322=)
c.6933C>G (p.Ala2311=)
c.6903C>G (p.Ala2301=)
c.6900C>G (p.Ala2300=)
c.6852C>G (p.Ala2284=)
c.6816C>G (p.Ala2272=)
c.6813C>G (p.Ala2271=)
c.6768C>G (p.Ala2256=)
n.7433C>G
Xg.77520854G>TCA517374401ATRXc.7134C>A (p.Ala2378=)
c.2232C>A (p.Ala744=)
c.7020C>A (p.Ala2340=)
c.*6762C>A (n.*6762C>A)
n.5454C>A
n.365C>A
c.7131C>A (p.Ala2377=)
c.7047C>A (p.Ala2349=)
c.7017C>A (p.Ala2339=)
c.6969C>A (p.Ala2323=)
c.6930C>A (p.Ala2310=)
c.6855C>A (p.Ala2285=)
n.8726C>A
c.7044C>A (p.Ala2348=)
c.7014C>A (p.Ala2338=)
c.6966C>A (p.Ala2322=)
c.6933C>A (p.Ala2311=)
c.6903C>A (p.Ala2301=)
c.6900C>A (p.Ala2300=)
c.6852C>A (p.Ala2284=)
c.6816C>A (p.Ala2272=)
c.6813C>A (p.Ala2271=)
c.6768C>A (p.Ala2256=)
n.7433C>A
Xg.77520855G>ACA413707218ATRXc.7133C>T (p.Ala2378Val)
c.2231C>T (p.Ala744Val)
c.7019C>T (p.Ala2340Val)
c.*6761C>T (n.*6761C>T)
n.5453C>T
n.364C>T
c.7130C>T (p.Ala2377Val)
c.7046C>T (p.Ala2349Val)
c.7016C>T (p.Ala2339Val)
c.6968C>T (p.Ala2323Val)
c.6929C>T (p.Ala2310Val)
c.6854C>T (p.Ala2285Val)
n.8725C>T
c.7043C>T (p.Ala2348Val)
c.7013C>T (p.Ala2338Val)
c.6965C>T (p.Ala2322Val)
c.6932C>T (p.Ala2311Val)
c.6902C>T (p.Ala2301Val)
c.6899C>T (p.Ala2300Val)
c.6851C>T (p.Ala2284Val)
c.6815C>T (p.Ala2272Val)
c.6812C>T (p.Ala2271Val)
c.6767C>T (p.Ala2256Val)
n.7432C>T
Xg.77520855G>CCA413707220ATRXc.7133C>G (p.Ala2378Gly)
c.2231C>G (p.Ala744Gly)
c.7019C>G (p.Ala2340Gly)
c.*6761C>G (n.*6761C>G)
n.5453C>G
n.364C>G
c.7130C>G (p.Ala2377Gly)
c.7046C>G (p.Ala2349Gly)
c.7016C>G (p.Ala2339Gly)
c.6968C>G (p.Ala2323Gly)
c.6929C>G (p.Ala2310Gly)
c.6854C>G (p.Ala2285Gly)
n.8725C>G
c.7043C>G (p.Ala2348Gly)
c.7013C>G (p.Ala2338Gly)
c.6965C>G (p.Ala2322Gly)
c.6932C>G (p.Ala2311Gly)
c.6902C>G (p.Ala2301Gly)
c.6899C>G (p.Ala2300Gly)
c.6851C>G (p.Ala2284Gly)
c.6815C>G (p.Ala2272Gly)
c.6812C>G (p.Ala2271Gly)
c.6767C>G (p.Ala2256Gly)
n.7432C>G
Xg.77520855G>TCA413707222ATRXc.7133C>A (p.Ala2378Asp)
c.2231C>A (p.Ala744Asp)
c.7019C>A (p.Ala2340Asp)
c.*6761C>A (n.*6761C>A)
n.5453C>A
n.364C>A
c.7130C>A (p.Ala2377Asp)
c.7046C>A (p.Ala2349Asp)
c.7016C>A (p.Ala2339Asp)
c.6968C>A (p.Ala2323Asp)
c.6929C>A (p.Ala2310Asp)
c.6854C>A (p.Ala2285Asp)
n.8725C>A
c.7043C>A (p.Ala2348Asp)
c.7013C>A (p.Ala2338Asp)
c.6965C>A (p.Ala2322Asp)
c.6932C>A (p.Ala2311Asp)
c.6902C>A (p.Ala2301Asp)
c.6899C>A (p.Ala2300Asp)
c.6851C>A (p.Ala2284Asp)
c.6815C>A (p.Ala2272Asp)
c.6812C>A (p.Ala2271Asp)
c.6767C>A (p.Ala2256Asp)
n.7432C>A
Xg.77520856C>ACA413707227ATRXc.7132G>T (p.Ala2378Ser)
c.2230G>T (p.Ala744Ser)
c.7018G>T (p.Ala2340Ser)
c.*6760G>T (n.*6760G>T)
n.5452G>T
n.363G>T
c.7129G>T (p.Ala2377Ser)
c.7045G>T (p.Ala2349Ser)
c.7015G>T (p.Ala2339Ser)
c.6967G>T (p.Ala2323Ser)
c.6928G>T (p.Ala2310Ser)
c.6853G>T (p.Ala2285Ser)
n.8724G>T
c.7042G>T (p.Ala2348Ser)
c.7012G>T (p.Ala2338Ser)
c.6964G>T (p.Ala2322Ser)
c.6931G>T (p.Ala2311Ser)
c.6901G>T (p.Ala2301Ser)
c.6898G>T (p.Ala2300Ser)
c.6850G>T (p.Ala2284Ser)
c.6814G>T (p.Ala2272Ser)
c.6811G>T (p.Ala2271Ser)
c.6766G>T (p.Ala2256Ser)
n.7431G>T
Xg.77520856C>GCA413707225ATRXc.7132G>C (p.Ala2378Pro)
c.2230G>C (p.Ala744Pro)
c.7018G>C (p.Ala2340Pro)
c.*6760G>C (n.*6760G>C)
n.5452G>C
n.363G>C
c.7129G>C (p.Ala2377Pro)
c.7045G>C (p.Ala2349Pro)
c.7015G>C (p.Ala2339Pro)
c.6967G>C (p.Ala2323Pro)
c.6928G>C (p.Ala2310Pro)
c.6853G>C (p.Ala2285Pro)
n.8724G>C
c.7042G>C (p.Ala2348Pro)
c.7012G>C (p.Ala2338Pro)
c.6964G>C (p.Ala2322Pro)
c.6931G>C (p.Ala2311Pro)
c.6901G>C (p.Ala2301Pro)
c.6898G>C (p.Ala2300Pro)
c.6850G>C (p.Ala2284Pro)
c.6814G>C (p.Ala2272Pro)
c.6811G>C (p.Ala2271Pro)
c.6766G>C (p.Ala2256Pro)
n.7431G>C
Xg.77520856C>TCA413707224ATRXc.7132G>A (p.Ala2378Thr)
c.2230G>A (p.Ala744Thr)
c.7018G>A (p.Ala2340Thr)
c.*6760G>A (n.*6760G>A)
n.5452G>A
n.363G>A
c.7129G>A (p.Ala2377Thr)
c.7045G>A (p.Ala2349Thr)
c.7015G>A (p.Ala2339Thr)
c.6967G>A (p.Ala2323Thr)
c.6928G>A (p.Ala2310Thr)
c.6853G>A (p.Ala2285Thr)
n.8724G>A
c.7042G>A (p.Ala2348Thr)
c.7012G>A (p.Ala2338Thr)
c.6964G>A (p.Ala2322Thr)
c.6931G>A (p.Ala2311Thr)
c.6901G>A (p.Ala2301Thr)
c.6898G>A (p.Ala2300Thr)
c.6850G>A (p.Ala2284Thr)
c.6814G>A (p.Ala2272Thr)
c.6811G>A (p.Ala2271Thr)
c.6766G>A (p.Ala2256Thr)
n.7431G>A
Xg.77520857T>ACA413707229ATRXc.7131A>T (p.Gln2377His)
c.2229A>T (p.Gln743His)
c.7017A>T (p.Gln2339His)
c.*6759A>T (n.*6759A>T)
n.5451A>T
n.362A>T
c.7128A>T (p.Gln2376His)
c.7044A>T (p.Gln2348His)
c.7014A>T (p.Gln2338His)
c.6966A>T (p.Gln2322His)
c.6927A>T (p.Gln2309His)
c.6852A>T (p.Gln2284His)
n.8723A>T
c.7041A>T (p.Gln2347His)
c.7011A>T (p.Gln2337His)
c.6963A>T (p.Gln2321His)
c.6930A>T (p.Gln2310His)
c.6900A>T (p.Gln2300His)
c.6897A>T (p.Gln2299His)
c.6849A>T (p.Gln2283His)
c.6813A>T (p.Gln2271His)
c.6810A>T (p.Gln2270His)
c.6765A>T (p.Gln2255His)
n.7430A>T
Xg.77520857T>CCA517374403ATRXc.7131A>G (p.Gln2377=)
c.2229A>G (p.Gln743=)
c.7017A>G (p.Gln2339=)
c.*6759A>G (n.*6759A>G)
n.5451A>G
n.362A>G
c.7128A>G (p.Gln2376=)
c.7044A>G (p.Gln2348=)
c.7014A>G (p.Gln2338=)
c.6966A>G (p.Gln2322=)
c.6927A>G (p.Gln2309=)
c.6852A>G (p.Gln2284=)
n.8723A>G
c.7041A>G (p.Gln2347=)
c.7011A>G (p.Gln2337=)
c.6963A>G (p.Gln2321=)
c.6930A>G (p.Gln2310=)
c.6900A>G (p.Gln2300=)
c.6897A>G (p.Gln2299=)
c.6849A>G (p.Gln2283=)
c.6813A>G (p.Gln2271=)
c.6810A>G (p.Gln2270=)
c.6765A>G (p.Gln2255=)
n.7430A>G
Xg.77520857T>GCA413707231ATRXc.7131A>C (p.Gln2377His)
c.2229A>C (p.Gln743His)
c.7017A>C (p.Gln2339His)
c.*6759A>C (n.*6759A>C)
n.5451A>C
n.362A>C
c.7128A>C (p.Gln2376His)
c.7044A>C (p.Gln2348His)
c.7014A>C (p.Gln2338His)
c.6966A>C (p.Gln2322His)
c.6927A>C (p.Gln2309His)
c.6852A>C (p.Gln2284His)
n.8723A>C
c.7041A>C (p.Gln2347His)
c.7011A>C (p.Gln2337His)
c.6963A>C (p.Gln2321His)
c.6930A>C (p.Gln2310His)
c.6900A>C (p.Gln2300His)
c.6897A>C (p.Gln2299His)
c.6849A>C (p.Gln2283His)
c.6813A>C (p.Gln2271His)
c.6810A>C (p.Gln2270His)
c.6765A>C (p.Gln2255His)
n.7430A>C
Xg.77520858T>ACA413707233ATRXc.7130A>T (p.Gln2377Leu)
c.2228A>T (p.Gln743Leu)
c.7016A>T (p.Gln2339Leu)
c.*6758A>T (n.*6758A>T)
n.5450A>T
n.361A>T
c.7127A>T (p.Gln2376Leu)
c.7043A>T (p.Gln2348Leu)
c.7013A>T (p.Gln2338Leu)
c.6965A>T (p.Gln2322Leu)
c.6926A>T (p.Gln2309Leu)
c.6851A>T (p.Gln2284Leu)
n.8722A>T
c.7040A>T (p.Gln2347Leu)
c.7010A>T (p.Gln2337Leu)
c.6962A>T (p.Gln2321Leu)
c.6929A>T (p.Gln2310Leu)
c.6899A>T (p.Gln2300Leu)
c.6896A>T (p.Gln2299Leu)
c.6848A>T (p.Gln2283Leu)
c.6812A>T (p.Gln2271Leu)
c.6809A>T (p.Gln2270Leu)
c.6764A>T (p.Gln2255Leu)
n.7429A>T
Xg.77520858T>CCA413707234ATRXc.7130A>G (p.Gln2377Arg)
c.2228A>G (p.Gln743Arg)
c.7016A>G (p.Gln2339Arg)
c.*6758A>G (n.*6758A>G)
n.5450A>G
n.361A>G
c.7127A>G (p.Gln2376Arg)
c.7043A>G (p.Gln2348Arg)
c.7013A>G (p.Gln2338Arg)
c.6965A>G (p.Gln2322Arg)
c.6926A>G (p.Gln2309Arg)
c.6851A>G (p.Gln2284Arg)
n.8722A>G
c.7040A>G (p.Gln2347Arg)
c.7010A>G (p.Gln2337Arg)
c.6962A>G (p.Gln2321Arg)
c.6929A>G (p.Gln2310Arg)
c.6899A>G (p.Gln2300Arg)
c.6896A>G (p.Gln2299Arg)
c.6848A>G (p.Gln2283Arg)
c.6812A>G (p.Gln2271Arg)
c.6809A>G (p.Gln2270Arg)
c.6764A>G (p.Gln2255Arg)
n.7429A>G
Xg.77520858T>GCA413707236ATRXc.7130A>C (p.Gln2377Pro)
c.2228A>C (p.Gln743Pro)
c.7016A>C (p.Gln2339Pro)
c.*6758A>C (n.*6758A>C)
n.5450A>C
n.361A>C
c.7127A>C (p.Gln2376Pro)
c.7043A>C (p.Gln2348Pro)
c.7013A>C (p.Gln2338Pro)
c.6965A>C (p.Gln2322Pro)
c.6926A>C (p.Gln2309Pro)
c.6851A>C (p.Gln2284Pro)
n.8722A>C
c.7040A>C (p.Gln2347Pro)
c.7010A>C (p.Gln2337Pro)
c.6962A>C (p.Gln2321Pro)
c.6929A>C (p.Gln2310Pro)
c.6899A>C (p.Gln2300Pro)
c.6896A>C (p.Gln2299Pro)
c.6848A>C (p.Gln2283Pro)
c.6812A>C (p.Gln2271Pro)
c.6809A>C (p.Gln2270Pro)
c.6764A>C (p.Gln2255Pro)
n.7429A>C
Xg.77520859G>ACA413707238ATRXc.7129C>T (p.Gln2377Ter)
c.2227C>T (p.Gln743Ter)
c.7015C>T (p.Gln2339Ter)
c.*6757C>T (n.*6757C>T)
n.5449C>T
n.360C>T
c.7126C>T (p.Gln2376Ter)
c.7042C>T (p.Gln2348Ter)
c.7012C>T (p.Gln2338Ter)
c.6964C>T (p.Gln2322Ter)
c.6925C>T (p.Gln2309Ter)
c.6850C>T (p.Gln2284Ter)
n.8721C>T
c.7039C>T (p.Gln2347Ter)
c.7009C>T (p.Gln2337Ter)
c.6961C>T (p.Gln2321Ter)
c.6928C>T (p.Gln2310Ter)
c.6898C>T (p.Gln2300Ter)
c.6895C>T (p.Gln2299Ter)
c.6847C>T (p.Gln2283Ter)
c.6811C>T (p.Gln2271Ter)
c.6808C>T (p.Gln2270Ter)
c.6763C>T (p.Gln2255Ter)
n.7428C>T
Xg.77520859G>CCA413707239ATRXc.7129C>G (p.Gln2377Glu)
c.2227C>G (p.Gln743Glu)
c.7015C>G (p.Gln2339Glu)
c.*6757C>G (n.*6757C>G)
n.5449C>G
n.360C>G
c.7126C>G (p.Gln2376Glu)
c.7042C>G (p.Gln2348Glu)
c.7012C>G (p.Gln2338Glu)
c.6964C>G (p.Gln2322Glu)
c.6925C>G (p.Gln2309Glu)
c.6850C>G (p.Gln2284Glu)
n.8721C>G
c.7039C>G (p.Gln2347Glu)
c.7009C>G (p.Gln2337Glu)
c.6961C>G (p.Gln2321Glu)
c.6928C>G (p.Gln2310Glu)
c.6898C>G (p.Gln2300Glu)
c.6895C>G (p.Gln2299Glu)
c.6847C>G (p.Gln2283Glu)
c.6811C>G (p.Gln2271Glu)
c.6808C>G (p.Gln2270Glu)
c.6763C>G (p.Gln2255Glu)
n.7428C>G
Xg.77520859G>TCA413707241ATRXc.7129C>A (p.Gln2377Lys)
c.2227C>A (p.Gln743Lys)
c.7015C>A (p.Gln2339Lys)
c.*6757C>A (n.*6757C>A)
n.5449C>A
n.360C>A
c.7126C>A (p.Gln2376Lys)
c.7042C>A (p.Gln2348Lys)
c.7012C>A (p.Gln2338Lys)
c.6964C>A (p.Gln2322Lys)
c.6925C>A (p.Gln2309Lys)
c.6850C>A (p.Gln2284Lys)
n.8721C>A
c.7039C>A (p.Gln2347Lys)
c.7009C>A (p.Gln2337Lys)
c.6961C>A (p.Gln2321Lys)
c.6928C>A (p.Gln2310Lys)
c.6898C>A (p.Gln2300Lys)
c.6895C>A (p.Gln2299Lys)
c.6847C>A (p.Gln2283Lys)
c.6811C>A (p.Gln2271Lys)
c.6808C>A (p.Gln2270Lys)
c.6763C>A (p.Gln2255Lys)
n.7428C>A
Xg.77520860T>ACA413707243ATRXc.7128A>T (p.Arg2376Ser)
c.2226A>T (p.Arg742Ser)
c.7014A>T (p.Arg2338Ser)
c.*6756A>T (n.*6756A>T)
n.5448A>T
n.359A>T
c.7125A>T (p.Arg2375Ser)
c.7041A>T (p.Arg2347Ser)
c.7011A>T (p.Arg2337Ser)
c.6963A>T (p.Arg2321Ser)
c.6924A>T (p.Arg2308Ser)
c.6849A>T (p.Arg2283Ser)
n.8720A>T
c.7038A>T (p.Arg2346Ser)
c.7008A>T (p.Arg2336Ser)
c.6960A>T (p.Arg2320Ser)
c.6927A>T (p.Arg2309Ser)
c.6897A>T (p.Arg2299Ser)
c.6894A>T (p.Arg2298Ser)
c.6846A>T (p.Arg2282Ser)
c.6810A>T (p.Arg2270Ser)
c.6807A>T (p.Arg2269Ser)
c.6762A>T (p.Arg2254Ser)
n.7427A>T
Xg.77520860T>CCA517374404ATRXc.7128A>G (p.Arg2376=)
c.2226A>G (p.Arg742=)
c.7014A>G (p.Arg2338=)
c.*6756A>G (n.*6756A>G)
n.5448A>G
n.359A>G
c.7125A>G (p.Arg2375=)
c.7041A>G (p.Arg2347=)
c.7011A>G (p.Arg2337=)
c.6963A>G (p.Arg2321=)
c.6924A>G (p.Arg2308=)
c.6849A>G (p.Arg2283=)
n.8720A>G
c.7038A>G (p.Arg2346=)
c.7008A>G (p.Arg2336=)
c.6960A>G (p.Arg2320=)
c.6927A>G (p.Arg2309=)
c.6897A>G (p.Arg2299=)
c.6894A>G (p.Arg2298=)
c.6846A>G (p.Arg2282=)
c.6810A>G (p.Arg2270=)
c.6807A>G (p.Arg2269=)
c.6762A>G (p.Arg2254=)
n.7427A>G
Xg.77520860T>GCA413707245ATRXc.7128A>C (p.Arg2376Ser)
c.2226A>C (p.Arg742Ser)
c.7014A>C (p.Arg2338Ser)
c.*6756A>C (n.*6756A>C)
n.5448A>C
n.359A>C
c.7125A>C (p.Arg2375Ser)
c.7041A>C (p.Arg2347Ser)
c.7011A>C (p.Arg2337Ser)
c.6963A>C (p.Arg2321Ser)
c.6924A>C (p.Arg2308Ser)
c.6849A>C (p.Arg2283Ser)
n.8720A>C
c.7038A>C (p.Arg2346Ser)
c.7008A>C (p.Arg2336Ser)
c.6960A>C (p.Arg2320Ser)
c.6927A>C (p.Arg2309Ser)
c.6897A>C (p.Arg2299Ser)
c.6894A>C (p.Arg2298Ser)
c.6846A>C (p.Arg2282Ser)
c.6810A>C (p.Arg2270Ser)
c.6807A>C (p.Arg2269Ser)
c.6762A>C (p.Arg2254Ser)
n.7427A>C
Xg.77520861C>ACA413707247ATRXc.7127G>T (p.Arg2376Ile)
c.2225G>T (p.Arg742Ile)
c.7013G>T (p.Arg2338Ile)
c.*6755G>T (n.*6755G>T)
n.5447G>T
n.358G>T
c.7124G>T (p.Arg2375Ile)
c.7040G>T (p.Arg2347Ile)
c.7010G>T (p.Arg2337Ile)
c.6962G>T (p.Arg2321Ile)
c.6923G>T (p.Arg2308Ile)
c.6848G>T (p.Arg2283Ile)
n.8719G>T
c.7037G>T (p.Arg2346Ile)
c.7007G>T (p.Arg2336Ile)
c.6959G>T (p.Arg2320Ile)
c.6926G>T (p.Arg2309Ile)
c.6896G>T (p.Arg2299Ile)
c.6893G>T (p.Arg2298Ile)
c.6845G>T (p.Arg2282Ile)
c.6809G>T (p.Arg2270Ile)
c.6806G>T (p.Arg2269Ile)
c.6761G>T (p.Arg2254Ile)
n.7426G>T
Xg.77520861C>GCA413707249ATRXc.7127G>C (p.Arg2376Thr)
c.2225G>C (p.Arg742Thr)
c.7013G>C (p.Arg2338Thr)
c.*6755G>C (n.*6755G>C)
n.5447G>C
n.358G>C
c.7124G>C (p.Arg2375Thr)
c.7040G>C (p.Arg2347Thr)
c.7010G>C (p.Arg2337Thr)
c.6962G>C (p.Arg2321Thr)
c.6923G>C (p.Arg2308Thr)
c.6848G>C (p.Arg2283Thr)
n.8719G>C
c.7037G>C (p.Arg2346Thr)
c.7007G>C (p.Arg2336Thr)
c.6959G>C (p.Arg2320Thr)
c.6926G>C (p.Arg2309Thr)
c.6896G>C (p.Arg2299Thr)
c.6893G>C (p.Arg2298Thr)
c.6845G>C (p.Arg2282Thr)
c.6809G>C (p.Arg2270Thr)
c.6806G>C (p.Arg2269Thr)
c.6761G>C (p.Arg2254Thr)
n.7426G>C
Xg.77520861C>TCA413707251ATRXc.7127G>A (p.Arg2376Lys)
c.2225G>A (p.Arg742Lys)
c.7013G>A (p.Arg2338Lys)
c.*6755G>A (n.*6755G>A)
n.5447G>A
n.358G>A
c.7124G>A (p.Arg2375Lys)
c.7040G>A (p.Arg2347Lys)
c.7010G>A (p.Arg2337Lys)
c.6962G>A (p.Arg2321Lys)
c.6923G>A (p.Arg2308Lys)
c.6848G>A (p.Arg2283Lys)
n.8719G>A
c.7037G>A (p.Arg2346Lys)
c.7007G>A (p.Arg2336Lys)
c.6959G>A (p.Arg2320Lys)
c.6926G>A (p.Arg2309Lys)
c.6896G>A (p.Arg2299Lys)
c.6893G>A (p.Arg2298Lys)
c.6845G>A (p.Arg2282Lys)
c.6809G>A (p.Arg2270Lys)
c.6806G>A (p.Arg2269Lys)
c.6761G>A (p.Arg2254Lys)
n.7426G>A
Xg.77520862T>ACA413707255ATRXc.7126A>T (p.Arg2376Ter)
c.2224A>T (p.Arg742Ter)
c.7012A>T (p.Arg2338Ter)
c.*6754A>T (n.*6754A>T)
n.5446A>T
n.357A>T
c.7123A>T (p.Arg2375Ter)
c.7039A>T (p.Arg2347Ter)
c.7009A>T (p.Arg2337Ter)
c.6961A>T (p.Arg2321Ter)
c.6922A>T (p.Arg2308Ter)
c.6847A>T (p.Arg2283Ter)
n.8718A>T
c.7036A>T (p.Arg2346Ter)
c.7006A>T (p.Arg2336Ter)
c.6958A>T (p.Arg2320Ter)
c.6925A>T (p.Arg2309Ter)
c.6895A>T (p.Arg2299Ter)
c.6892A>T (p.Arg2298Ter)
c.6844A>T (p.Arg2282Ter)
c.6808A>T (p.Arg2270Ter)
c.6805A>T (p.Arg2269Ter)
c.6760A>T (p.Arg2254Ter)
n.7425A>T
Xg.77520862T>CCA413707253ATRXc.7126A>G (p.Arg2376Gly)
c.2224A>G (p.Arg742Gly)
c.7012A>G (p.Arg2338Gly)
c.*6754A>G (n.*6754A>G)
n.5446A>G
n.357A>G
c.7123A>G (p.Arg2375Gly)
c.7039A>G (p.Arg2347Gly)
c.7009A>G (p.Arg2337Gly)
c.6961A>G (p.Arg2321Gly)
c.6922A>G (p.Arg2308Gly)
c.6847A>G (p.Arg2283Gly)
n.8718A>G
c.7036A>G (p.Arg2346Gly)
c.7006A>G (p.Arg2336Gly)
c.6958A>G (p.Arg2320Gly)
c.6925A>G (p.Arg2309Gly)
c.6895A>G (p.Arg2299Gly)
c.6892A>G (p.Arg2298Gly)
c.6844A>G (p.Arg2282Gly)
c.6808A>G (p.Arg2270Gly)
c.6805A>G (p.Arg2269Gly)
c.6760A>G (p.Arg2254Gly)
n.7425A>G
Xg.77520862T>GCA517374405ATRXc.7126A>C (p.Arg2376=)
c.2224A>C (p.Arg742=)
c.7012A>C (p.Arg2338=)
c.*6754A>C (n.*6754A>C)
n.5446A>C
n.357A>C
c.7123A>C (p.Arg2375=)
c.7039A>C (p.Arg2347=)
c.7009A>C (p.Arg2337=)
c.6961A>C (p.Arg2321=)
c.6922A>C (p.Arg2308=)
c.6847A>C (p.Arg2283=)
n.8718A>C
c.7036A>C (p.Arg2346=)
c.7006A>C (p.Arg2336=)
c.6958A>C (p.Arg2320=)
c.6925A>C (p.Arg2309=)
c.6895A>C (p.Arg2299=)
c.6892A>C (p.Arg2298=)
c.6844A>C (p.Arg2282=)
c.6808A>C (p.Arg2270=)
c.6805A>C (p.Arg2269=)
c.6760A>C (p.Arg2254=)
n.7425A>C
Xg.77520863A>CCA413707256ATRXc.7125T>G (p.Ser2375Arg)
c.2223T>G (p.Ser741Arg)
c.7011T>G (p.Ser2337Arg)
c.*6753T>G (n.*6753T>G)
n.5445T>G
n.356T>G
c.7122T>G (p.Ser2374Arg)
c.7038T>G (p.Ser2346Arg)
c.7008T>G (p.Ser2336Arg)
c.6960T>G (p.Ser2320Arg)
c.6921T>G (p.Ser2307Arg)
c.6846T>G (p.Ser2282Arg)
n.8717T>G
c.7035T>G (p.Ser2345Arg)
c.7005T>G (p.Ser2335Arg)
c.6957T>G (p.Ser2319Arg)
c.6924T>G (p.Ser2308Arg)
c.6894T>G (p.Ser2298Arg)
c.6891T>G (p.Ser2297Arg)
c.6843T>G (p.Ser2281Arg)
c.6807T>G (p.Ser2269Arg)
c.6804T>G (p.Ser2268Arg)
c.6759T>G (p.Ser2253Arg)
n.7424T>G
Xg.77520863A>GCA517374406ATRXc.7125T>C (p.Ser2375=)
c.2223T>C (p.Ser741=)
c.7011T>C (p.Ser2337=)
c.*6753T>C (n.*6753T>C)
n.5445T>C
n.356T>C
c.7122T>C (p.Ser2374=)
c.7038T>C (p.Ser2346=)
c.7008T>C (p.Ser2336=)
c.6960T>C (p.Ser2320=)
c.6921T>C (p.Ser2307=)
c.6846T>C (p.Ser2282=)
n.8717T>C
c.7035T>C (p.Ser2345=)
c.7005T>C (p.Ser2335=)
c.6957T>C (p.Ser2319=)
c.6924T>C (p.Ser2308=)
c.6894T>C (p.Ser2298=)
c.6891T>C (p.Ser2297=)
c.6843T>C (p.Ser2281=)
c.6807T>C (p.Ser2269=)
c.6804T>C (p.Ser2268=)
c.6759T>C (p.Ser2253=)
n.7424T>C
Xg.77520863A>TCA413707257ATRXc.7125T>A (p.Ser2375Arg)
c.2223T>A (p.Ser741Arg)
c.7011T>A (p.Ser2337Arg)
c.*6753T>A (n.*6753T>A)
n.5445T>A
n.356T>A
c.7122T>A (p.Ser2374Arg)
c.7038T>A (p.Ser2346Arg)
c.7008T>A (p.Ser2336Arg)
c.6960T>A (p.Ser2320Arg)
c.6921T>A (p.Ser2307Arg)
c.6846T>A (p.Ser2282Arg)
n.8717T>A
c.7035T>A (p.Ser2345Arg)
c.7005T>A (p.Ser2335Arg)
c.6957T>A (p.Ser2319Arg)
c.6924T>A (p.Ser2308Arg)
c.6894T>A (p.Ser2298Arg)
c.6891T>A (p.Ser2297Arg)
c.6843T>A (p.Ser2281Arg)
c.6807T>A (p.Ser2269Arg)
c.6804T>A (p.Ser2268Arg)
c.6759T>A (p.Ser2253Arg)
n.7424T>A
Xg.77520864C>ACA413707259ATRXc.7124G>T (p.Ser2375Ile)
c.2222G>T (p.Ser741Ile)
c.7010G>T (p.Ser2337Ile)
c.*6752G>T (n.*6752G>T)
n.5444G>T
n.355G>T
c.7121G>T (p.Ser2374Ile)
c.7037G>T (p.Ser2346Ile)
c.7007G>T (p.Ser2336Ile)
c.6959G>T (p.Ser2320Ile)
c.6920G>T (p.Ser2307Ile)
c.6845G>T (p.Ser2282Ile)
n.8716G>T
c.7034G>T (p.Ser2345Ile)
c.7004G>T (p.Ser2335Ile)
c.6956G>T (p.Ser2319Ile)
c.6923G>T (p.Ser2308Ile)
c.6893G>T (p.Ser2298Ile)
c.6890G>T (p.Ser2297Ile)
c.6842G>T (p.Ser2281Ile)
c.6806G>T (p.Ser2269Ile)
c.6803G>T (p.Ser2268Ile)
c.6758G>T (p.Ser2253Ile)
n.7423G>T
Xg.77520864C>GCA413707261ATRXc.7124G>C (p.Ser2375Thr)
c.2222G>C (p.Ser741Thr)
c.7010G>C (p.Ser2337Thr)
c.*6752G>C (n.*6752G>C)
n.5444G>C
n.355G>C
c.7121G>C (p.Ser2374Thr)
c.7037G>C (p.Ser2346Thr)
c.7007G>C (p.Ser2336Thr)
c.6959G>C (p.Ser2320Thr)
c.6920G>C (p.Ser2307Thr)
c.6845G>C (p.Ser2282Thr)
n.8716G>C
c.7034G>C (p.Ser2345Thr)
c.7004G>C (p.Ser2335Thr)
c.6956G>C (p.Ser2319Thr)
c.6923G>C (p.Ser2308Thr)
c.6893G>C (p.Ser2298Thr)
c.6890G>C (p.Ser2297Thr)
c.6842G>C (p.Ser2281Thr)
c.6806G>C (p.Ser2269Thr)
c.6803G>C (p.Ser2268Thr)
c.6758G>C (p.Ser2253Thr)
n.7423G>C
Xg.77520864C>TCA413707262ATRXc.7124G>A (p.Ser2375Asn)
c.2222G>A (p.Ser741Asn)
c.7010G>A (p.Ser2337Asn)
c.*6752G>A (n.*6752G>A)
n.5444G>A
n.355G>A
c.7121G>A (p.Ser2374Asn)
c.7037G>A (p.Ser2346Asn)
c.7007G>A (p.Ser2336Asn)
c.6959G>A (p.Ser2320Asn)
c.6920G>A (p.Ser2307Asn)
c.6845G>A (p.Ser2282Asn)
n.8716G>A
c.7034G>A (p.Ser2345Asn)
c.7004G>A (p.Ser2335Asn)
c.6956G>A (p.Ser2319Asn)
c.6923G>A (p.Ser2308Asn)
c.6893G>A (p.Ser2298Asn)
c.6890G>A (p.Ser2297Asn)
c.6842G>A (p.Ser2281Asn)
c.6806G>A (p.Ser2269Asn)
c.6803G>A (p.Ser2268Asn)
c.6758G>A (p.Ser2253Asn)
n.7423G>A
Xg.77520865T>ACA413707264ATRXc.7123A>T (p.Ser2375Cys)
c.2221A>T (p.Ser741Cys)
c.7009A>T (p.Ser2337Cys)
c.*6751A>T (n.*6751A>T)
n.5443A>T
n.354A>T
c.7120A>T (p.Ser2374Cys)
c.7036A>T (p.Ser2346Cys)
c.7006A>T (p.Ser2336Cys)
c.6958A>T (p.Ser2320Cys)
c.6919A>T (p.Ser2307Cys)
c.6844A>T (p.Ser2282Cys)
n.8715A>T
c.7033A>T (p.Ser2345Cys)
c.7003A>T (p.Ser2335Cys)
c.6955A>T (p.Ser2319Cys)
c.6922A>T (p.Ser2308Cys)
c.6892A>T (p.Ser2298Cys)
c.6889A>T (p.Ser2297Cys)
c.6841A>T (p.Ser2281Cys)
c.6805A>T (p.Ser2269Cys)
c.6802A>T (p.Ser2268Cys)
c.6757A>T (p.Ser2253Cys)
n.7422A>T
Xg.77520865T>CCA413707266ATRXc.7123A>G (p.Ser2375Gly)
c.2221A>G (p.Ser741Gly)
c.7009A>G (p.Ser2337Gly)
c.*6751A>G (n.*6751A>G)
n.5443A>G
n.354A>G
c.7120A>G (p.Ser2374Gly)
c.7036A>G (p.Ser2346Gly)
c.7006A>G (p.Ser2336Gly)
c.6958A>G (p.Ser2320Gly)
c.6919A>G (p.Ser2307Gly)
c.6844A>G (p.Ser2282Gly)
n.8715A>G
c.7033A>G (p.Ser2345Gly)
c.7003A>G (p.Ser2335Gly)
c.6955A>G (p.Ser2319Gly)
c.6922A>G (p.Ser2308Gly)
c.6892A>G (p.Ser2298Gly)
c.6889A>G (p.Ser2297Gly)
c.6841A>G (p.Ser2281Gly)
c.6805A>G (p.Ser2269Gly)
c.6802A>G (p.Ser2268Gly)
c.6757A>G (p.Ser2253Gly)
n.7422A>G
Xg.77520865T>GCA413707268ATRXc.7123A>C (p.Ser2375Arg)
c.2221A>C (p.Ser741Arg)
c.7009A>C (p.Ser2337Arg)
c.*6751A>C (n.*6751A>C)
n.5443A>C
n.354A>C
c.7120A>C (p.Ser2374Arg)
c.7036A>C (p.Ser2346Arg)
c.7006A>C (p.Ser2336Arg)
c.6958A>C (p.Ser2320Arg)
c.6919A>C (p.Ser2307Arg)
c.6844A>C (p.Ser2282Arg)
n.8715A>C
c.7033A>C (p.Ser2345Arg)
c.7003A>C (p.Ser2335Arg)
c.6955A>C (p.Ser2319Arg)
c.6922A>C (p.Ser2308Arg)
c.6892A>C (p.Ser2298Arg)
c.6889A>C (p.Ser2297Arg)
c.6841A>C (p.Ser2281Arg)
c.6805A>C (p.Ser2269Arg)
c.6802A>C (p.Ser2268Arg)
c.6757A>C (p.Ser2253Arg)
n.7422A>C
Xg.77520866T>ACA413707269ATRXc.7122A>T (p.Leu2374Phe)
c.2220A>T (p.Leu740Phe)
c.7008A>T (p.Leu2336Phe)
c.*6750A>T (n.*6750A>T)
n.5442A>T
n.353A>T
c.7119A>T (p.Leu2373Phe)
c.7035A>T (p.Leu2345Phe)
c.7005A>T (p.Leu2335Phe)
c.6957A>T (p.Leu2319Phe)
c.6918A>T (p.Leu2306Phe)
c.6843A>T (p.Leu2281Phe)
n.8714A>T
c.7032A>T (p.Leu2344Phe)
c.7002A>T (p.Leu2334Phe)
c.6954A>T (p.Leu2318Phe)
c.6921A>T (p.Leu2307Phe)
c.6891A>T (p.Leu2297Phe)
c.6888A>T (p.Leu2296Phe)
c.6840A>T (p.Leu2280Phe)
c.6804A>T (p.Leu2268Phe)
c.6801A>T (p.Leu2267Phe)
c.6756A>T (p.Leu2252Phe)
n.7421A>T
Xg.77520866T>CCA517374407ATRXc.7122A>G (p.Leu2374=)
c.2220A>G (p.Leu740=)
c.7008A>G (p.Leu2336=)
c.*6750A>G (n.*6750A>G)
n.5442A>G
n.353A>G
c.7119A>G (p.Leu2373=)
c.7035A>G (p.Leu2345=)
c.7005A>G (p.Leu2335=)
c.6957A>G (p.Leu2319=)
c.6918A>G (p.Leu2306=)
c.6843A>G (p.Leu2281=)
n.8714A>G
c.7032A>G (p.Leu2344=)
c.7002A>G (p.Leu2334=)
c.6954A>G (p.Leu2318=)
c.6921A>G (p.Leu2307=)
c.6891A>G (p.Leu2297=)
c.6888A>G (p.Leu2296=)
c.6840A>G (p.Leu2280=)
c.6804A>G (p.Leu2268=)
c.6801A>G (p.Leu2267=)
c.6756A>G (p.Leu2252=)
n.7421A>G
Xg.77520866T>GCA413707270ATRXc.7122A>C (p.Leu2374Phe)
c.2220A>C (p.Leu740Phe)
c.7008A>C (p.Leu2336Phe)
c.*6750A>C (n.*6750A>C)
n.5442A>C
n.353A>C
c.7119A>C (p.Leu2373Phe)
c.7035A>C (p.Leu2345Phe)
c.7005A>C (p.Leu2335Phe)
c.6957A>C (p.Leu2319Phe)
c.6918A>C (p.Leu2306Phe)
c.6843A>C (p.Leu2281Phe)
n.8714A>C
c.7032A>C (p.Leu2344Phe)
c.7002A>C (p.Leu2334Phe)
c.6954A>C (p.Leu2318Phe)
c.6921A>C (p.Leu2307Phe)
c.6891A>C (p.Leu2297Phe)
c.6888A>C (p.Leu2296Phe)
c.6840A>C (p.Leu2280Phe)
c.6804A>C (p.Leu2268Phe)
c.6801A>C (p.Leu2267Phe)
c.6756A>C (p.Leu2252Phe)
n.7421A>C
Xg.77520867A>CCA413707272ATRXc.7121T>G (p.Leu2374Ter)
c.2219T>G (p.Leu740Ter)
c.7007T>G (p.Leu2336Ter)
c.*6749T>G (n.*6749T>G)
n.5441T>G
n.352T>G
c.7118T>G (p.Leu2373Ter)
c.7034T>G (p.Leu2345Ter)
c.7004T>G (p.Leu2335Ter)
c.6956T>G (p.Leu2319Ter)
c.6917T>G (p.Leu2306Ter)
c.6842T>G (p.Leu2281Ter)
n.8713T>G
c.7031T>G (p.Leu2344Ter)
c.7001T>G (p.Leu2334Ter)
c.6953T>G (p.Leu2318Ter)
c.6920T>G (p.Leu2307Ter)
c.6890T>G (p.Leu2297Ter)
c.6887T>G (p.Leu2296Ter)
c.6839T>G (p.Leu2280Ter)
c.6803T>G (p.Leu2268Ter)
c.6800T>G (p.Leu2267Ter)
c.6755T>G (p.Leu2252Ter)
n.7420T>G
Xg.77520867A>GCA413707273ATRXc.7121T>C (p.Leu2374Ser)
c.2219T>C (p.Leu740Ser)
c.7007T>C (p.Leu2336Ser)
c.*6749T>C (n.*6749T>C)
n.5441T>C
n.352T>C
c.7118T>C (p.Leu2373Ser)
c.7034T>C (p.Leu2345Ser)
c.7004T>C (p.Leu2335Ser)
c.6956T>C (p.Leu2319Ser)
c.6917T>C (p.Leu2306Ser)
c.6842T>C (p.Leu2281Ser)
n.8713T>C
c.7031T>C (p.Leu2344Ser)
c.7001T>C (p.Leu2334Ser)
c.6953T>C (p.Leu2318Ser)
c.6920T>C (p.Leu2307Ser)
c.6890T>C (p.Leu2297Ser)
c.6887T>C (p.Leu2296Ser)
c.6839T>C (p.Leu2280Ser)
c.6803T>C (p.Leu2268Ser)
c.6800T>C (p.Leu2267Ser)
c.6755T>C (p.Leu2252Ser)
n.7420T>C
 gnomAD v4
Xg.77520867A>TCA413707275ATRXc.7121T>A (p.Leu2374Ter)
c.2219T>A (p.Leu740Ter)
c.7007T>A (p.Leu2336Ter)
c.*6749T>A (n.*6749T>A)
n.5441T>A
n.352T>A
c.7118T>A (p.Leu2373Ter)
c.7034T>A (p.Leu2345Ter)
c.7004T>A (p.Leu2335Ter)
c.6956T>A (p.Leu2319Ter)
c.6917T>A (p.Leu2306Ter)
c.6842T>A (p.Leu2281Ter)
n.8713T>A
c.7031T>A (p.Leu2344Ter)
c.7001T>A (p.Leu2334Ter)
c.6953T>A (p.Leu2318Ter)
c.6920T>A (p.Leu2307Ter)
c.6890T>A (p.Leu2297Ter)
c.6887T>A (p.Leu2296Ter)
c.6839T>A (p.Leu2280Ter)
c.6803T>A (p.Leu2268Ter)
c.6800T>A (p.Leu2267Ter)
c.6755T>A (p.Leu2252Ter)
n.7420T>A
Xg.77520868A>CCA413707279ATRXc.7120T>G (p.Leu2374Val)
c.2218T>G (p.Leu740Val)
c.7006T>G (p.Leu2336Val)
c.*6748T>G (n.*6748T>G)
n.5440T>G
n.351T>G
c.7117T>G (p.Leu2373Val)
c.7033T>G (p.Leu2345Val)
c.7003T>G (p.Leu2335Val)
c.6955T>G (p.Leu2319Val)
c.6916T>G (p.Leu2306Val)
c.6841T>G (p.Leu2281Val)
n.8712T>G
c.7030T>G (p.Leu2344Val)
c.7000T>G (p.Leu2334Val)
c.6952T>G (p.Leu2318Val)
c.6919T>G (p.Leu2307Val)
c.6889T>G (p.Leu2297Val)
c.6886T>G (p.Leu2296Val)
c.6838T>G (p.Leu2280Val)
c.6802T>G (p.Leu2268Val)
c.6799T>G (p.Leu2267Val)
c.6754T>G (p.Leu2252Val)
n.7419T>G
Xg.77520868A>GCA517374408ATRXc.7120T>C (p.Leu2374=)
c.2218T>C (p.Leu740=)
c.7006T>C (p.Leu2336=)
c.*6748T>C (n.*6748T>C)
n.5440T>C
n.351T>C
c.7117T>C (p.Leu2373=)
c.7033T>C (p.Leu2345=)
c.7003T>C (p.Leu2335=)
c.6955T>C (p.Leu2319=)
c.6916T>C (p.Leu2306=)
c.6841T>C (p.Leu2281=)
n.8712T>C
c.7030T>C (p.Leu2344=)
c.7000T>C (p.Leu2334=)
c.6952T>C (p.Leu2318=)
c.6919T>C (p.Leu2307=)
c.6889T>C (p.Leu2297=)
c.6886T>C (p.Leu2296=)
c.6838T>C (p.Leu2280=)
c.6802T>C (p.Leu2268=)
c.6799T>C (p.Leu2267=)
c.6754T>C (p.Leu2252=)
n.7419T>C
Xg.77520868A>TCA413707278ATRXc.7120T>A (p.Leu2374Ile)
c.2218T>A (p.Leu740Ile)
c.7006T>A (p.Leu2336Ile)
c.*6748T>A (n.*6748T>A)
n.5440T>A
n.351T>A
c.7117T>A (p.Leu2373Ile)
c.7033T>A (p.Leu2345Ile)
c.7003T>A (p.Leu2335Ile)
c.6955T>A (p.Leu2319Ile)
c.6916T>A (p.Leu2306Ile)
c.6841T>A (p.Leu2281Ile)
n.8712T>A
c.7030T>A (p.Leu2344Ile)
c.7000T>A (p.Leu2334Ile)
c.6952T>A (p.Leu2318Ile)
c.6919T>A (p.Leu2307Ile)
c.6889T>A (p.Leu2297Ile)
c.6886T>A (p.Leu2296Ile)
c.6838T>A (p.Leu2280Ile)
c.6802T>A (p.Leu2268Ile)
c.6799T>A (p.Leu2267Ile)
c.6754T>A (p.Leu2252Ile)
n.7419T>A
Xg.77520869T>ACA517374409ATRXc.7119A>T (p.Ala2373=)
c.2217A>T (p.Ala739=)
c.7005A>T (p.Ala2335=)
c.*6747A>T (n.*6747A>T)
n.5439A>T
n.350A>T
c.7116A>T (p.Ala2372=)
c.7032A>T (p.Ala2344=)
c.7002A>T (p.Ala2334=)
c.6954A>T (p.Ala2318=)
c.6915A>T (p.Ala2305=)
c.6840A>T (p.Ala2280=)
n.8711A>T
c.7029A>T (p.Ala2343=)
c.6999A>T (p.Ala2333=)
c.6951A>T (p.Ala2317=)
c.6918A>T (p.Ala2306=)
c.6888A>T (p.Ala2296=)
c.6885A>T (p.Ala2295=)
c.6837A>T (p.Ala2279=)
c.6801A>T (p.Ala2267=)
c.6798A>T (p.Ala2266=)
c.6753A>T (p.Ala2251=)
n.7418A>T
Xg.77520869T>CCA517374410ATRXc.7119A>G (p.Ala2373=)
c.2217A>G (p.Ala739=)
c.7005A>G (p.Ala2335=)
c.*6747A>G (n.*6747A>G)
n.5439A>G
n.350A>G
c.7116A>G (p.Ala2372=)
c.7032A>G (p.Ala2344=)
c.7002A>G (p.Ala2334=)
c.6954A>G (p.Ala2318=)
c.6915A>G (p.Ala2305=)
c.6840A>G (p.Ala2280=)
n.8711A>G
c.7029A>G (p.Ala2343=)
c.6999A>G (p.Ala2333=)
c.6951A>G (p.Ala2317=)
c.6918A>G (p.Ala2306=)
c.6888A>G (p.Ala2296=)
c.6885A>G (p.Ala2295=)
c.6837A>G (p.Ala2279=)
c.6801A>G (p.Ala2267=)
c.6798A>G (p.Ala2266=)
c.6753A>G (p.Ala2251=)
n.7418A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.77520869T>GCA517374411ATRXc.7119A>C (p.Ala2373=)
c.2217A>C (p.Ala739=)
c.7005A>C (p.Ala2335=)
c.*6747A>C (n.*6747A>C)
n.5439A>C
n.350A>C
c.7116A>C (p.Ala2372=)
c.7032A>C (p.Ala2344=)
c.7002A>C (p.Ala2334=)
c.6954A>C (p.Ala2318=)
c.6915A>C (p.Ala2305=)
c.6840A>C (p.Ala2280=)
n.8711A>C
c.7029A>C (p.Ala2343=)
c.6999A>C (p.Ala2333=)
c.6951A>C (p.Ala2317=)
c.6918A>C (p.Ala2306=)
c.6888A>C (p.Ala2296=)
c.6885A>C (p.Ala2295=)
c.6837A>C (p.Ala2279=)
c.6801A>C (p.Ala2267=)
c.6798A>C (p.Ala2266=)
c.6753A>C (p.Ala2251=)
n.7418A>C
Xg.77520869T=CA2438933069ATRXc.7119A= (p.Ala2373=)
c.2217A= (p.Ala739=)
c.7005A= (p.Ala2335=)
c.*6747A= (n.*6747A=)
n.5439A=
n.350A=
c.7116A= (p.Ala2372=)
c.7032A= (p.Ala2344=)
c.7002A= (p.Ala2334=)
c.6954A= (p.Ala2318=)
c.6915A= (p.Ala2305=)
c.6840A= (p.Ala2280=)
n.8711A=
c.7029A= (p.Ala2343=)
c.6999A= (p.Ala2333=)
c.6951A= (p.Ala2317=)
c.6918A= (p.Ala2306=)
c.6888A= (p.Ala2296=)
c.6885A= (p.Ala2295=)
c.6837A= (p.Ala2279=)
c.6801A= (p.Ala2267=)
c.6798A= (p.Ala2266=)
c.6753A= (p.Ala2251=)
n.7418A=
Xg.77520870G>ACA413707282ATRXc.7118C>T (p.Ala2373Val)
c.2216C>T (p.Ala739Val)
c.7004C>T (p.Ala2335Val)
c.*6746C>T (n.*6746C>T)
n.5438C>T
n.349C>T
c.7115C>T (p.Ala2372Val)
c.7031C>T (p.Ala2344Val)
c.7001C>T (p.Ala2334Val)
c.6953C>T (p.Ala2318Val)
c.6914C>T (p.Ala2305Val)
c.6839C>T (p.Ala2280Val)
n.8710C>T
c.7028C>T (p.Ala2343Val)
c.6998C>T (p.Ala2333Val)
c.6950C>T (p.Ala2317Val)
c.6917C>T (p.Ala2306Val)
c.6887C>T (p.Ala2296Val)
c.6884C>T (p.Ala2295Val)
c.6836C>T (p.Ala2279Val)
c.6800C>T (p.Ala2267Val)
c.6797C>T (p.Ala2266Val)
c.6752C>T (p.Ala2251Val)
n.7417C>T
Xg.77520870G>CCA413707284ATRXc.7118C>G (p.Ala2373Gly)
c.2216C>G (p.Ala739Gly)
c.7004C>G (p.Ala2335Gly)
c.*6746C>G (n.*6746C>G)
n.5438C>G
n.349C>G
c.7115C>G (p.Ala2372Gly)
c.7031C>G (p.Ala2344Gly)
c.7001C>G (p.Ala2334Gly)
c.6953C>G (p.Ala2318Gly)
c.6914C>G (p.Ala2305Gly)
c.6839C>G (p.Ala2280Gly)
n.8710C>G
c.7028C>G (p.Ala2343Gly)
c.6998C>G (p.Ala2333Gly)
c.6950C>G (p.Ala2317Gly)
c.6917C>G (p.Ala2306Gly)
c.6887C>G (p.Ala2296Gly)
c.6884C>G (p.Ala2295Gly)
c.6836C>G (p.Ala2279Gly)
c.6800C>G (p.Ala2267Gly)
c.6797C>G (p.Ala2266Gly)
c.6752C>G (p.Ala2251Gly)
n.7417C>G
Xg.77520870G>TCA413707285ATRXc.7118C>A (p.Ala2373Glu)
c.2216C>A (p.Ala739Glu)
c.7004C>A (p.Ala2335Glu)
c.*6746C>A (n.*6746C>A)
n.5438C>A
n.349C>A
c.7115C>A (p.Ala2372Glu)
c.7031C>A (p.Ala2344Glu)
c.7001C>A (p.Ala2334Glu)
c.6953C>A (p.Ala2318Glu)
c.6914C>A (p.Ala2305Glu)
c.6839C>A (p.Ala2280Glu)
n.8710C>A
c.7028C>A (p.Ala2343Glu)
c.6998C>A (p.Ala2333Glu)
c.6950C>A (p.Ala2317Glu)
c.6917C>A (p.Ala2306Glu)
c.6887C>A (p.Ala2296Glu)
c.6884C>A (p.Ala2295Glu)
c.6836C>A (p.Ala2279Glu)
c.6800C>A (p.Ala2267Glu)
c.6797C>A (p.Ala2266Glu)
c.6752C>A (p.Ala2251Glu)
n.7417C>A
Xg.77520871C>ACA413707288ATRXc.7117G>T (p.Ala2373Ser)
c.2215G>T (p.Ala739Ser)
c.7003G>T (p.Ala2335Ser)
c.*6745G>T (n.*6745G>T)
n.5437G>T
n.348G>T
c.7114G>T (p.Ala2372Ser)
c.7030G>T (p.Ala2344Ser)
c.7000G>T (p.Ala2334Ser)
c.6952G>T (p.Ala2318Ser)
c.6913G>T (p.Ala2305Ser)
c.6838G>T (p.Ala2280Ser)
n.8709G>T
c.7027G>T (p.Ala2343Ser)
c.6997G>T (p.Ala2333Ser)
c.6949G>T (p.Ala2317Ser)
c.6916G>T (p.Ala2306Ser)
c.6886G>T (p.Ala2296Ser)
c.6883G>T (p.Ala2295Ser)
c.6835G>T (p.Ala2279Ser)
c.6799G>T (p.Ala2267Ser)
c.6796G>T (p.Ala2266Ser)
c.6751G>T (p.Ala2251Ser)
n.7416G>T
 ClinVar gnomAD v4
Xg.77520871C>GCA413707289ATRXc.7117G>C (p.Ala2373Pro)
c.2215G>C (p.Ala739Pro)
c.7003G>C (p.Ala2335Pro)
c.*6745G>C (n.*6745G>C)
n.5437G>C
n.348G>C
c.7114G>C (p.Ala2372Pro)
c.7030G>C (p.Ala2344Pro)
c.7000G>C (p.Ala2334Pro)
c.6952G>C (p.Ala2318Pro)
c.6913G>C (p.Ala2305Pro)
c.6838G>C (p.Ala2280Pro)
n.8709G>C
c.7027G>C (p.Ala2343Pro)
c.6997G>C (p.Ala2333Pro)
c.6949G>C (p.Ala2317Pro)
c.6916G>C (p.Ala2306Pro)
c.6886G>C (p.Ala2296Pro)
c.6883G>C (p.Ala2295Pro)
c.6835G>C (p.Ala2279Pro)
c.6799G>C (p.Ala2267Pro)
c.6796G>C (p.Ala2266Pro)
c.6751G>C (p.Ala2251Pro)
n.7416G>C
Xg.77520871C>TCA413707290ATRXc.7117G>A (p.Ala2373Thr)
c.2215G>A (p.Ala739Thr)
c.7003G>A (p.Ala2335Thr)
c.*6745G>A (n.*6745G>A)
n.5437G>A
n.348G>A
c.7114G>A (p.Ala2372Thr)
c.7030G>A (p.Ala2344Thr)
c.7000G>A (p.Ala2334Thr)
c.6952G>A (p.Ala2318Thr)
c.6913G>A (p.Ala2305Thr)
c.6838G>A (p.Ala2280Thr)
n.8709G>A
c.7027G>A (p.Ala2343Thr)
c.6997G>A (p.Ala2333Thr)
c.6949G>A (p.Ala2317Thr)
c.6916G>A (p.Ala2306Thr)
c.6886G>A (p.Ala2296Thr)
c.6883G>A (p.Ala2295Thr)
c.6835G>A (p.Ala2279Thr)
c.6799G>A (p.Ala2267Thr)
c.6796G>A (p.Ala2266Thr)
c.6751G>A (p.Ala2251Thr)
n.7416G>A
Xg.77520872T>ACA413707292ATRXc.7116A>T (p.Leu2372Phe)
c.2214A>T (p.Leu738Phe)
c.7002A>T (p.Leu2334Phe)
c.*6744A>T (n.*6744A>T)
n.5436A>T
n.347A>T
c.7113A>T (p.Leu2371Phe)
c.7029A>T (p.Leu2343Phe)
c.6999A>T (p.Leu2333Phe)
c.6951A>T (p.Leu2317Phe)
c.6912A>T (p.Leu2304Phe)
c.6837A>T (p.Leu2279Phe)
n.8708A>T
c.7026A>T (p.Leu2342Phe)
c.6996A>T (p.Leu2332Phe)
c.6948A>T (p.Leu2316Phe)
c.6915A>T (p.Leu2305Phe)
c.6885A>T (p.Leu2295Phe)
c.6882A>T (p.Leu2294Phe)
c.6834A>T (p.Leu2278Phe)
c.6798A>T (p.Leu2266Phe)
c.6795A>T (p.Leu2265Phe)
c.6750A>T (p.Leu2250Phe)
n.7415A>T
Xg.77520872T>CCA517374412ATRXc.7116A>G (p.Leu2372=)
c.2214A>G (p.Leu738=)
c.7002A>G (p.Leu2334=)
c.*6744A>G (n.*6744A>G)
n.5436A>G
n.347A>G
c.7113A>G (p.Leu2371=)
c.7029A>G (p.Leu2343=)
c.6999A>G (p.Leu2333=)
c.6951A>G (p.Leu2317=)
c.6912A>G (p.Leu2304=)
c.6837A>G (p.Leu2279=)
n.8708A>G
c.7026A>G (p.Leu2342=)
c.6996A>G (p.Leu2332=)
c.6948A>G (p.Leu2316=)
c.6915A>G (p.Leu2305=)
c.6885A>G (p.Leu2295=)
c.6882A>G (p.Leu2294=)
c.6834A>G (p.Leu2278=)
c.6798A>G (p.Leu2266=)
c.6795A>G (p.Leu2265=)
c.6750A>G (p.Leu2250=)
n.7415A>G
Xg.77520872T>GCA413707293ATRXc.7116A>C (p.Leu2372Phe)
c.2214A>C (p.Leu738Phe)
c.7002A>C (p.Leu2334Phe)
c.*6744A>C (n.*6744A>C)
n.5436A>C
n.347A>C
c.7113A>C (p.Leu2371Phe)
c.7029A>C (p.Leu2343Phe)
c.6999A>C (p.Leu2333Phe)
c.6951A>C (p.Leu2317Phe)
c.6912A>C (p.Leu2304Phe)
c.6837A>C (p.Leu2279Phe)
n.8708A>C
c.7026A>C (p.Leu2342Phe)
c.6996A>C (p.Leu2332Phe)
c.6948A>C (p.Leu2316Phe)
c.6915A>C (p.Leu2305Phe)
c.6885A>C (p.Leu2295Phe)
c.6882A>C (p.Leu2294Phe)
c.6834A>C (p.Leu2278Phe)
c.6798A>C (p.Leu2266Phe)
c.6795A>C (p.Leu2265Phe)
c.6750A>C (p.Leu2250Phe)
n.7415A>C
Xg.77520873A>CCA413707295ATRXc.7115T>G (p.Leu2372Ter)
c.2213T>G (p.Leu738Ter)
c.7001T>G (p.Leu2334Ter)
c.*6743T>G (n.*6743T>G)
n.5435T>G
n.346T>G
c.7112T>G (p.Leu2371Ter)
c.7028T>G (p.Leu2343Ter)
c.6998T>G (p.Leu2333Ter)
c.6950T>G (p.Leu2317Ter)
c.6911T>G (p.Leu2304Ter)
c.6836T>G (p.Leu2279Ter)
n.8707T>G
c.7025T>G (p.Leu2342Ter)
c.6995T>G (p.Leu2332Ter)
c.6947T>G (p.Leu2316Ter)
c.6914T>G (p.Leu2305Ter)
c.6884T>G (p.Leu2295Ter)
c.6881T>G (p.Leu2294Ter)
c.6833T>G (p.Leu2278Ter)
c.6797T>G (p.Leu2266Ter)
c.6794T>G (p.Leu2265Ter)
c.6749T>G (p.Leu2250Ter)
n.7414T>G
 dbSNP
Xg.77520873A>GCA413707297ATRXc.7115T>C (p.Leu2372Ser)
c.2213T>C (p.Leu738Ser)
c.7001T>C (p.Leu2334Ser)
c.*6743T>C (n.*6743T>C)
n.5435T>C
n.346T>C
c.7112T>C (p.Leu2371Ser)
c.7028T>C (p.Leu2343Ser)
c.6998T>C (p.Leu2333Ser)
c.6950T>C (p.Leu2317Ser)
c.6911T>C (p.Leu2304Ser)
c.6836T>C (p.Leu2279Ser)
n.8707T>C
c.7025T>C (p.Leu2342Ser)
c.6995T>C (p.Leu2332Ser)
c.6947T>C (p.Leu2316Ser)
c.6914T>C (p.Leu2305Ser)
c.6884T>C (p.Leu2295Ser)
c.6881T>C (p.Leu2294Ser)
c.6833T>C (p.Leu2278Ser)
c.6797T>C (p.Leu2266Ser)
c.6794T>C (p.Leu2265Ser)
c.6749T>C (p.Leu2250Ser)
n.7414T>C
 dbSNP
Xg.77520873A>TCA413707299ATRXc.7115T>A (p.Leu2372Ter)
c.2213T>A (p.Leu738Ter)
c.7001T>A (p.Leu2334Ter)
c.*6743T>A (n.*6743T>A)
n.5435T>A
n.346T>A
c.7112T>A (p.Leu2371Ter)
c.7028T>A (p.Leu2343Ter)
c.6998T>A (p.Leu2333Ter)
c.6950T>A (p.Leu2317Ter)
c.6911T>A (p.Leu2304Ter)
c.6836T>A (p.Leu2279Ter)
n.8707T>A
c.7025T>A (p.Leu2342Ter)
c.6995T>A (p.Leu2332Ter)
c.6947T>A (p.Leu2316Ter)
c.6914T>A (p.Leu2305Ter)
c.6884T>A (p.Leu2295Ter)
c.6881T>A (p.Leu2294Ter)
c.6833T>A (p.Leu2278Ter)
c.6797T>A (p.Leu2266Ter)
c.6794T>A (p.Leu2265Ter)
c.6749T>A (p.Leu2250Ter)
n.7414T>A
 dbSNP
Xg.77520874A>CCA413707301ATRXc.7114T>G (p.Leu2372Val)
c.2212T>G (p.Leu738Val)
c.7000T>G (p.Leu2334Val)
c.*6742T>G (n.*6742T>G)
n.5434T>G
n.345T>G
c.7111T>G (p.Leu2371Val)
c.7027T>G (p.Leu2343Val)
c.6997T>G (p.Leu2333Val)
c.6949T>G (p.Leu2317Val)
c.6910T>G (p.Leu2304Val)
c.6835T>G (p.Leu2279Val)
n.8706T>G
c.7024T>G (p.Leu2342Val)
c.6994T>G (p.Leu2332Val)
c.6946T>G (p.Leu2316Val)
c.6913T>G (p.Leu2305Val)
c.6883T>G (p.Leu2295Val)
c.6880T>G (p.Leu2294Val)
c.6832T>G (p.Leu2278Val)
c.6796T>G (p.Leu2266Val)
c.6793T>G (p.Leu2265Val)
c.6748T>G (p.Leu2250Val)
n.7413T>G
Xg.77520874A>GCA517374413ATRXc.7114T>C (p.Leu2372=)
c.2212T>C (p.Leu738=)
c.7000T>C (p.Leu2334=)
c.*6742T>C (n.*6742T>C)
n.5434T>C
n.345T>C
c.7111T>C (p.Leu2371=)
c.7027T>C (p.Leu2343=)
c.6997T>C (p.Leu2333=)
c.6949T>C (p.Leu2317=)
c.6910T>C (p.Leu2304=)
c.6835T>C (p.Leu2279=)
n.8706T>C
c.7024T>C (p.Leu2342=)
c.6994T>C (p.Leu2332=)
c.6946T>C (p.Leu2316=)
c.6913T>C (p.Leu2305=)
c.6883T>C (p.Leu2295=)
c.6880T>C (p.Leu2294=)
c.6832T>C (p.Leu2278=)
c.6796T>C (p.Leu2266=)
c.6793T>C (p.Leu2265=)
c.6748T>C (p.Leu2250=)
n.7413T>C
Xg.77520874A>TCA413707302ATRXc.7114T>A (p.Leu2372Ile)
c.2212T>A (p.Leu738Ile)
c.7000T>A (p.Leu2334Ile)
c.*6742T>A (n.*6742T>A)
n.5434T>A
n.345T>A
c.7111T>A (p.Leu2371Ile)
c.7027T>A (p.Leu2343Ile)
c.6997T>A (p.Leu2333Ile)
c.6949T>A (p.Leu2317Ile)
c.6910T>A (p.Leu2304Ile)
c.6835T>A (p.Leu2279Ile)
n.8706T>A
c.7024T>A (p.Leu2342Ile)
c.6994T>A (p.Leu2332Ile)
c.6946T>A (p.Leu2316Ile)
c.6913T>A (p.Leu2305Ile)
c.6883T>A (p.Leu2295Ile)
c.6880T>A (p.Leu2294Ile)
c.6832T>A (p.Leu2278Ile)
c.6796T>A (p.Leu2266Ile)
c.6793T>A (p.Leu2265Ile)
c.6748T>A (p.Leu2250Ile)
n.7413T>A
Xg.77520875C>ACA517374414ATRXc.7113G>T (p.Ala2371=)
c.2211G>T (p.Ala737=)
c.6999G>T (p.Ala2333=)
c.*6741G>T (n.*6741G>T)
n.5433G>T
n.344G>T
c.7110G>T (p.Ala2370=)
c.7026G>T (p.Ala2342=)
c.6996G>T (p.Ala2332=)
c.6948G>T (p.Ala2316=)
c.6909G>T (p.Ala2303=)
c.6834G>T (p.Ala2278=)
n.8705G>T
c.7023G>T (p.Ala2341=)
c.6993G>T (p.Ala2331=)
c.6945G>T (p.Ala2315=)
c.6912G>T (p.Ala2304=)
c.6882G>T (p.Ala2294=)
c.6879G>T (p.Ala2293=)
c.6831G>T (p.Ala2277=)
c.6795G>T (p.Ala2265=)
c.6792G>T (p.Ala2264=)
c.6747G>T (p.Ala2249=)
n.7412G>T
Xg.77520875C=CA2438933070ATRXc.7113G= (p.Ala2371=)
c.2211G= (p.Ala737=)
c.6999G= (p.Ala2333=)
c.*6741G= (n.*6741G=)
n.5433G=
n.344G=
c.7110G= (p.Ala2370=)
c.7026G= (p.Ala2342=)
c.6996G= (p.Ala2332=)
c.6948G= (p.Ala2316=)
c.6909G= (p.Ala2303=)
c.6834G= (p.Ala2278=)
n.8705G=
c.7023G= (p.Ala2341=)
c.6993G= (p.Ala2331=)
c.6945G= (p.Ala2315=)
c.6912G= (p.Ala2304=)
c.6882G= (p.Ala2294=)
c.6879G= (p.Ala2293=)
c.6831G= (p.Ala2277=)
c.6795G= (p.Ala2265=)
c.6792G= (p.Ala2264=)
c.6747G= (p.Ala2249=)
n.7412G=
Xg.77520875C>GCA517374415ATRXc.7113G>C (p.Ala2371=)
c.2211G>C (p.Ala737=)
c.6999G>C (p.Ala2333=)
c.*6741G>C (n.*6741G>C)
n.5433G>C
n.344G>C
c.7110G>C (p.Ala2370=)
c.7026G>C (p.Ala2342=)
c.6996G>C (p.Ala2332=)
c.6948G>C (p.Ala2316=)
c.6909G>C (p.Ala2303=)
c.6834G>C (p.Ala2278=)
n.8705G>C
c.7023G>C (p.Ala2341=)
c.6993G>C (p.Ala2331=)
c.6945G>C (p.Ala2315=)
c.6912G>C (p.Ala2304=)
c.6882G>C (p.Ala2294=)
c.6879G>C (p.Ala2293=)
c.6831G>C (p.Ala2277=)
c.6795G>C (p.Ala2265=)
c.6792G>C (p.Ala2264=)
c.6747G>C (p.Ala2249=)
n.7412G>C
Xg.77520875C>TCA10457421ATRXc.7113G>A (p.Ala2371=)
c.2211G>A (p.Ala737=)
c.6999G>A (p.Ala2333=)
c.*6741G>A (n.*6741G>A)
n.5433G>A
n.344G>A
c.7110G>A (p.Ala2370=)
c.7026G>A (p.Ala2342=)
c.6996G>A (p.Ala2332=)
c.6948G>A (p.Ala2316=)
c.6909G>A (p.Ala2303=)
c.6834G>A (p.Ala2278=)
n.8705G>A
c.7023G>A (p.Ala2341=)
c.6993G>A (p.Ala2331=)
c.6945G>A (p.Ala2315=)
c.6912G>A (p.Ala2304=)
c.6882G>A (p.Ala2294=)
c.6879G>A (p.Ala2293=)
c.6831G>A (p.Ala2277=)
c.6795G>A (p.Ala2265=)
c.6792G>A (p.Ala2264=)
c.6747G>A (p.Ala2249=)
n.7412G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77520876G>ACA413707308ATRXc.7112C>T (p.Ala2371Val)
c.2210C>T (p.Ala737Val)
c.6998C>T (p.Ala2333Val)
c.*6740C>T (n.*6740C>T)
n.5432C>T
n.343C>T
c.7109C>T (p.Ala2370Val)
c.7025C>T (p.Ala2342Val)
c.6995C>T (p.Ala2332Val)
c.6947C>T (p.Ala2316Val)
c.6908C>T (p.Ala2303Val)
c.6833C>T (p.Ala2278Val)
n.8704C>T
c.7022C>T (p.Ala2341Val)
c.6992C>T (p.Ala2331Val)
c.6944C>T (p.Ala2315Val)
c.6911C>T (p.Ala2304Val)
c.6881C>T (p.Ala2294Val)
c.6878C>T (p.Ala2293Val)
c.6830C>T (p.Ala2277Val)
c.6794C>T (p.Ala2265Val)
c.6791C>T (p.Ala2264Val)
c.6746C>T (p.Ala2249Val)
n.7411C>T
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.77520876G>CCA413707310ATRXc.7112C>G (p.Ala2371Gly)
c.2210C>G (p.Ala737Gly)
c.6998C>G (p.Ala2333Gly)
c.*6740C>G (n.*6740C>G)
n.5432C>G
n.343C>G
c.7109C>G (p.Ala2370Gly)
c.7025C>G (p.Ala2342Gly)
c.6995C>G (p.Ala2332Gly)
c.6947C>G (p.Ala2316Gly)
c.6908C>G (p.Ala2303Gly)
c.6833C>G (p.Ala2278Gly)
n.8704C>G
c.7022C>G (p.Ala2341Gly)
c.6992C>G (p.Ala2331Gly)
c.6944C>G (p.Ala2315Gly)
c.6911C>G (p.Ala2304Gly)
c.6881C>G (p.Ala2294Gly)
c.6878C>G (p.Ala2293Gly)
c.6830C>G (p.Ala2277Gly)
c.6794C>G (p.Ala2265Gly)
c.6791C>G (p.Ala2264Gly)
c.6746C>G (p.Ala2249Gly)
n.7411C>G
Xg.77520876G>TCA413707306ATRXc.7112C>A (p.Ala2371Glu)
c.2210C>A (p.Ala737Glu)
c.6998C>A (p.Ala2333Glu)
c.*6740C>A (n.*6740C>A)
n.5432C>A
n.343C>A
c.7109C>A (p.Ala2370Glu)
c.7025C>A (p.Ala2342Glu)
c.6995C>A (p.Ala2332Glu)
c.6947C>A (p.Ala2316Glu)
c.6908C>A (p.Ala2303Glu)
c.6833C>A (p.Ala2278Glu)
n.8704C>A
c.7022C>A (p.Ala2341Glu)
c.6992C>A (p.Ala2331Glu)
c.6944C>A (p.Ala2315Glu)
c.6911C>A (p.Ala2304Glu)
c.6881C>A (p.Ala2294Glu)
c.6878C>A (p.Ala2293Glu)
c.6830C>A (p.Ala2277Glu)
c.6794C>A (p.Ala2265Glu)
c.6791C>A (p.Ala2264Glu)
c.6746C>A (p.Ala2249Glu)
n.7411C>A
Xg.77520877C>ACA413707312ATRXc.7111G>T (p.Ala2371Ser)
c.2209G>T (p.Ala737Ser)
c.6997G>T (p.Ala2333Ser)
c.*6739G>T (n.*6739G>T)
n.5431G>T
n.342G>T
c.7108G>T (p.Ala2370Ser)
c.7024G>T (p.Ala2342Ser)
c.6994G>T (p.Ala2332Ser)
c.6946G>T (p.Ala2316Ser)
c.6907G>T (p.Ala2303Ser)
c.6832G>T (p.Ala2278Ser)
n.8703G>T
c.7021G>T (p.Ala2341Ser)
c.6991G>T (p.Ala2331Ser)
c.6943G>T (p.Ala2315Ser)
c.6910G>T (p.Ala2304Ser)
c.6880G>T (p.Ala2294Ser)
c.6877G>T (p.Ala2293Ser)
c.6829G>T (p.Ala2277Ser)
c.6793G>T (p.Ala2265Ser)
c.6790G>T (p.Ala2264Ser)
c.6745G>T (p.Ala2249Ser)
n.7410G>T
Xg.77520877C=CA2438933071ATRXc.7111G= (p.Ala2371=)
c.2209G= (p.Ala737=)
c.6997G= (p.Ala2333=)
c.*6739G= (n.*6739G=)
n.5431G=
n.342G=
c.7108G= (p.Ala2370=)
c.7024G= (p.Ala2342=)
c.6994G= (p.Ala2332=)
c.6946G= (p.Ala2316=)
c.6907G= (p.Ala2303=)
c.6832G= (p.Ala2278=)
n.8703G=
c.7021G= (p.Ala2341=)
c.6991G= (p.Ala2331=)
c.6943G= (p.Ala2315=)
c.6910G= (p.Ala2304=)
c.6880G= (p.Ala2294=)
c.6877G= (p.Ala2293=)
c.6829G= (p.Ala2277=)
c.6793G= (p.Ala2265=)
c.6790G= (p.Ala2264=)
c.6745G= (p.Ala2249=)
n.7410G=
Xg.77520877C>GCA413707315ATRXc.7111G>C (p.Ala2371Pro)
c.2209G>C (p.Ala737Pro)
c.6997G>C (p.Ala2333Pro)
c.*6739G>C (n.*6739G>C)
n.5431G>C
n.342G>C
c.7108G>C (p.Ala2370Pro)
c.7024G>C (p.Ala2342Pro)
c.6994G>C (p.Ala2332Pro)
c.6946G>C (p.Ala2316Pro)
c.6907G>C (p.Ala2303Pro)
c.6832G>C (p.Ala2278Pro)
n.8703G>C
c.7021G>C (p.Ala2341Pro)
c.6991G>C (p.Ala2331Pro)
c.6943G>C (p.Ala2315Pro)
c.6910G>C (p.Ala2304Pro)
c.6880G>C (p.Ala2294Pro)
c.6877G>C (p.Ala2293Pro)
c.6829G>C (p.Ala2277Pro)
c.6793G>C (p.Ala2265Pro)
c.6790G>C (p.Ala2264Pro)
c.6745G>C (p.Ala2249Pro)
n.7410G>C
 gnomAD v4
Xg.77520877C>TCA10457422ATRXc.7111G>A (p.Ala2371Thr)
c.2209G>A (p.Ala737Thr)
c.6997G>A (p.Ala2333Thr)
c.*6739G>A (n.*6739G>A)
n.5431G>A
n.342G>A
c.7108G>A (p.Ala2370Thr)
c.7024G>A (p.Ala2342Thr)
c.6994G>A (p.Ala2332Thr)
c.6946G>A (p.Ala2316Thr)
c.6907G>A (p.Ala2303Thr)
c.6832G>A (p.Ala2278Thr)
n.8703G>A
c.7021G>A (p.Ala2341Thr)
c.6991G>A (p.Ala2331Thr)
c.6943G>A (p.Ala2315Thr)
c.6910G>A (p.Ala2304Thr)
c.6880G>A (p.Ala2294Thr)
c.6877G>A (p.Ala2293Thr)
c.6829G>A (p.Ala2277Thr)
c.6793G>A (p.Ala2265Thr)
c.6790G>A (p.Ala2264Thr)
c.6745G>A (p.Ala2249Thr)
n.7410G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77520878C>ACA413707316ATRXc.7110G>T (p.Gln2370His)
c.2208G>T (p.Gln736His)
c.6996G>T (p.Gln2332His)
c.*6738G>T (n.*6738G>T)
n.5430G>T
n.341G>T
c.7107G>T (p.Gln2369His)
c.7023G>T (p.Gln2341His)
c.6993G>T (p.Gln2331His)
c.6945G>T (p.Gln2315His)
c.6906G>T (p.Gln2302His)
c.6831G>T (p.Gln2277His)
n.8702G>T
c.7020G>T (p.Gln2340His)
c.6990G>T (p.Gln2330His)
c.6942G>T (p.Gln2314His)
c.6909G>T (p.Gln2303His)
c.6879G>T (p.Gln2293His)
c.6876G>T (p.Gln2292His)
c.6828G>T (p.Gln2276His)
c.6792G>T (p.Gln2264His)
c.6789G>T (p.Gln2263His)
c.6744G>T (p.Gln2248His)
n.7409G>T
Xg.77520878C>GCA413707318ATRXc.7110G>C (p.Gln2370His)
c.2208G>C (p.Gln736His)
c.6996G>C (p.Gln2332His)
c.*6738G>C (n.*6738G>C)
n.5430G>C
n.341G>C
c.7107G>C (p.Gln2369His)
c.7023G>C (p.Gln2341His)
c.6993G>C (p.Gln2331His)
c.6945G>C (p.Gln2315His)
c.6906G>C (p.Gln2302His)
c.6831G>C (p.Gln2277His)
n.8702G>C
c.7020G>C (p.Gln2340His)
c.6990G>C (p.Gln2330His)
c.6942G>C (p.Gln2314His)
c.6909G>C (p.Gln2303His)
c.6879G>C (p.Gln2293His)
c.6876G>C (p.Gln2292His)
c.6828G>C (p.Gln2276His)
c.6792G>C (p.Gln2264His)
c.6789G>C (p.Gln2263His)
c.6744G>C (p.Gln2248His)
n.7409G>C
Xg.77520878C>TCA517374416ATRXc.7110G>A (p.Gln2370=)
c.2208G>A (p.Gln736=)
c.6996G>A (p.Gln2332=)
c.*6738G>A (n.*6738G>A)
n.5430G>A
n.341G>A
c.7107G>A (p.Gln2369=)
c.7023G>A (p.Gln2341=)
c.6993G>A (p.Gln2331=)
c.6945G>A (p.Gln2315=)
c.6906G>A (p.Gln2302=)
c.6831G>A (p.Gln2277=)
n.8702G>A
c.7020G>A (p.Gln2340=)
c.6990G>A (p.Gln2330=)
c.6942G>A (p.Gln2314=)
c.6909G>A (p.Gln2303=)
c.6879G>A (p.Gln2293=)
c.6876G>A (p.Gln2292=)
c.6828G>A (p.Gln2276=)
c.6792G>A (p.Gln2264=)
c.6789G>A (p.Gln2263=)
c.6744G>A (p.Gln2248=)
n.7409G>A
Xg.77520879T>ACA413707321ATRXc.7109A>T (p.Gln2370Leu)
c.2207A>T (p.Gln736Leu)
c.6995A>T (p.Gln2332Leu)
c.*6737A>T (n.*6737A>T)
n.5429A>T
n.340A>T
c.7106A>T (p.Gln2369Leu)
c.7022A>T (p.Gln2341Leu)
c.6992A>T (p.Gln2331Leu)
c.6944A>T (p.Gln2315Leu)
c.6905A>T (p.Gln2302Leu)
c.6830A>T (p.Gln2277Leu)
n.8701A>T
c.7019A>T (p.Gln2340Leu)
c.6989A>T (p.Gln2330Leu)
c.6941A>T (p.Gln2314Leu)
c.6908A>T (p.Gln2303Leu)
c.6878A>T (p.Gln2293Leu)
c.6875A>T (p.Gln2292Leu)
c.6827A>T (p.Gln2276Leu)
c.6791A>T (p.Gln2264Leu)
c.6788A>T (p.Gln2263Leu)
c.6743A>T (p.Gln2248Leu)
n.7408A>T
Xg.77520879T>CCA413707322ATRXc.7109A>G (p.Gln2370Arg)
c.2207A>G (p.Gln736Arg)
c.6995A>G (p.Gln2332Arg)
c.*6737A>G (n.*6737A>G)
n.5429A>G
n.340A>G
c.7106A>G (p.Gln2369Arg)
c.7022A>G (p.Gln2341Arg)
c.6992A>G (p.Gln2331Arg)
c.6944A>G (p.Gln2315Arg)
c.6905A>G (p.Gln2302Arg)
c.6830A>G (p.Gln2277Arg)
n.8701A>G
c.7019A>G (p.Gln2340Arg)
c.6989A>G (p.Gln2330Arg)
c.6941A>G (p.Gln2314Arg)
c.6908A>G (p.Gln2303Arg)
c.6878A>G (p.Gln2293Arg)
c.6875A>G (p.Gln2292Arg)
c.6827A>G (p.Gln2276Arg)
c.6791A>G (p.Gln2264Arg)
c.6788A>G (p.Gln2263Arg)
c.6743A>G (p.Gln2248Arg)
n.7408A>G
Xg.77520879T>GCA413707324ATRXc.7109A>C (p.Gln2370Pro)
c.2207A>C (p.Gln736Pro)
c.6995A>C (p.Gln2332Pro)
c.*6737A>C (n.*6737A>C)
n.5429A>C
n.340A>C
c.7106A>C (p.Gln2369Pro)
c.7022A>C (p.Gln2341Pro)
c.6992A>C (p.Gln2331Pro)
c.6944A>C (p.Gln2315Pro)
c.6905A>C (p.Gln2302Pro)
c.6830A>C (p.Gln2277Pro)
n.8701A>C
c.7019A>C (p.Gln2340Pro)
c.6989A>C (p.Gln2330Pro)
c.6941A>C (p.Gln2314Pro)
c.6908A>C (p.Gln2303Pro)
c.6878A>C (p.Gln2293Pro)
c.6875A>C (p.Gln2292Pro)
c.6827A>C (p.Gln2276Pro)
c.6791A>C (p.Gln2264Pro)
c.6788A>C (p.Gln2263Pro)
c.6743A>C (p.Gln2248Pro)
n.7408A>C
Xg.77520880G>ACA413707326ATRXc.7108C>T (p.Gln2370Ter)
c.2206C>T (p.Gln736Ter)
c.6994C>T (p.Gln2332Ter)
c.*6736C>T (n.*6736C>T)
n.5428C>T
n.339C>T
c.7105C>T (p.Gln2369Ter)
c.7021C>T (p.Gln2341Ter)
c.6991C>T (p.Gln2331Ter)
c.6943C>T (p.Gln2315Ter)
c.6904C>T (p.Gln2302Ter)
c.6829C>T (p.Gln2277Ter)
n.8700C>T
c.7018C>T (p.Gln2340Ter)
c.6988C>T (p.Gln2330Ter)
c.6940C>T (p.Gln2314Ter)
c.6907C>T (p.Gln2303Ter)
c.6877C>T (p.Gln2293Ter)
c.6874C>T (p.Gln2292Ter)
c.6826C>T (p.Gln2276Ter)
c.6790C>T (p.Gln2264Ter)
c.6787C>T (p.Gln2263Ter)
c.6742C>T (p.Gln2248Ter)
n.7407C>T
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.77520880G>CCA413707327ATRXc.7108C>G (p.Gln2370Glu)
c.2206C>G (p.Gln736Glu)
c.6994C>G (p.Gln2332Glu)
c.*6736C>G (n.*6736C>G)
n.5428C>G
n.339C>G
c.7105C>G (p.Gln2369Glu)
c.7021C>G (p.Gln2341Glu)
c.6991C>G (p.Gln2331Glu)
c.6943C>G (p.Gln2315Glu)
c.6904C>G (p.Gln2302Glu)
c.6829C>G (p.Gln2277Glu)
n.8700C>G
c.7018C>G (p.Gln2340Glu)
c.6988C>G (p.Gln2330Glu)
c.6940C>G (p.Gln2314Glu)
c.6907C>G (p.Gln2303Glu)
c.6877C>G (p.Gln2293Glu)
c.6874C>G (p.Gln2292Glu)
c.6826C>G (p.Gln2276Glu)
c.6790C>G (p.Gln2264Glu)
c.6787C>G (p.Gln2263Glu)
c.6742C>G (p.Gln2248Glu)
n.7407C>G
Xg.77520880G>TCA413707329ATRXc.7108C>A (p.Gln2370Lys)
c.2206C>A (p.Gln736Lys)
c.6994C>A (p.Gln2332Lys)
c.*6736C>A (n.*6736C>A)
n.5428C>A
n.339C>A
c.7105C>A (p.Gln2369Lys)
c.7021C>A (p.Gln2341Lys)
c.6991C>A (p.Gln2331Lys)
c.6943C>A (p.Gln2315Lys)
c.6904C>A (p.Gln2302Lys)
c.6829C>A (p.Gln2277Lys)
n.8700C>A
c.7018C>A (p.Gln2340Lys)
c.6988C>A (p.Gln2330Lys)
c.6940C>A (p.Gln2314Lys)
c.6907C>A (p.Gln2303Lys)
c.6877C>A (p.Gln2293Lys)
c.6874C>A (p.Gln2292Lys)
c.6826C>A (p.Gln2276Lys)
c.6790C>A (p.Gln2264Lys)
c.6787C>A (p.Gln2263Lys)
c.6742C>A (p.Gln2248Lys)
n.7407C>A
Xg.77520881T>ACA517374417ATRXc.7107A>T (p.Val2369=)
c.2205A>T (p.Val735=)
c.6993A>T (p.Val2331=)
c.*6735A>T (n.*6735A>T)
n.5427A>T
n.338A>T
c.7104A>T (p.Val2368=)
c.7020A>T (p.Val2340=)
c.6990A>T (p.Val2330=)
c.6942A>T (p.Val2314=)
c.6903A>T (p.Val2301=)
c.6828A>T (p.Val2276=)
n.8699A>T
c.7017A>T (p.Val2339=)
c.6987A>T (p.Val2329=)
c.6939A>T (p.Val2313=)
c.6906A>T (p.Val2302=)
c.6876A>T (p.Val2292=)
c.6873A>T (p.Val2291=)
c.6825A>T (p.Val2275=)
c.6789A>T (p.Val2263=)
c.6786A>T (p.Val2262=)
c.6741A>T (p.Val2247=)
n.7406A>T
Xg.77520881T>CCA517374418ATRXc.7107A>G (p.Val2369=)
c.2205A>G (p.Val735=)
c.6993A>G (p.Val2331=)
c.*6735A>G (n.*6735A>G)
n.5427A>G
n.338A>G
c.7104A>G (p.Val2368=)
c.7020A>G (p.Val2340=)
c.6990A>G (p.Val2330=)
c.6942A>G (p.Val2314=)
c.6903A>G (p.Val2301=)
c.6828A>G (p.Val2276=)
n.8699A>G
c.7017A>G (p.Val2339=)
c.6987A>G (p.Val2329=)
c.6939A>G (p.Val2313=)
c.6906A>G (p.Val2302=)
c.6876A>G (p.Val2292=)
c.6873A>G (p.Val2291=)
c.6825A>G (p.Val2275=)
c.6789A>G (p.Val2263=)
c.6786A>G (p.Val2262=)
c.6741A>G (p.Val2247=)
n.7406A>G
Xg.77520881T>GCA517374419ATRXc.7107A>C (p.Val2369=)
c.2205A>C (p.Val735=)
c.6993A>C (p.Val2331=)
c.*6735A>C (n.*6735A>C)
n.5427A>C
n.338A>C
c.7104A>C (p.Val2368=)
c.7020A>C (p.Val2340=)
c.6990A>C (p.Val2330=)
c.6942A>C (p.Val2314=)
c.6903A>C (p.Val2301=)
c.6828A>C (p.Val2276=)
n.8699A>C
c.7017A>C (p.Val2339=)
c.6987A>C (p.Val2329=)
c.6939A>C (p.Val2313=)
c.6906A>C (p.Val2302=)
c.6876A>C (p.Val2292=)
c.6873A>C (p.Val2291=)
c.6825A>C (p.Val2275=)
c.6789A>C (p.Val2263=)
c.6786A>C (p.Val2262=)
c.6741A>C (p.Val2247=)
n.7406A>C
Xg.77520882A>CCA413707330ATRXc.7106T>G (p.Val2369Gly)
c.2204T>G (p.Val735Gly)
c.6992T>G (p.Val2331Gly)
c.*6734T>G (n.*6734T>G)
n.5426T>G
n.337T>G
c.7103T>G (p.Val2368Gly)
c.7019T>G (p.Val2340Gly)
c.6989T>G (p.Val2330Gly)
c.6941T>G (p.Val2314Gly)
c.6902T>G (p.Val2301Gly)
c.6827T>G (p.Val2276Gly)
n.8698T>G
c.7016T>G (p.Val2339Gly)
c.6986T>G (p.Val2329Gly)
c.6938T>G (p.Val2313Gly)
c.6905T>G (p.Val2302Gly)
c.6875T>G (p.Val2292Gly)
c.6872T>G (p.Val2291Gly)
c.6824T>G (p.Val2275Gly)
c.6788T>G (p.Val2263Gly)
c.6785T>G (p.Val2262Gly)
c.6740T>G (p.Val2247Gly)
n.7405T>G
Xg.77520882A>GCA413707332ATRXc.7106T>C (p.Val2369Ala)
c.2204T>C (p.Val735Ala)
c.6992T>C (p.Val2331Ala)
c.*6734T>C (n.*6734T>C)
n.5426T>C
n.337T>C
c.7103T>C (p.Val2368Ala)
c.7019T>C (p.Val2340Ala)
c.6989T>C (p.Val2330Ala)
c.6941T>C (p.Val2314Ala)
c.6902T>C (p.Val2301Ala)
c.6827T>C (p.Val2276Ala)
n.8698T>C
c.7016T>C (p.Val2339Ala)
c.6986T>C (p.Val2329Ala)
c.6938T>C (p.Val2313Ala)
c.6905T>C (p.Val2302Ala)
c.6875T>C (p.Val2292Ala)
c.6872T>C (p.Val2291Ala)
c.6824T>C (p.Val2275Ala)
c.6788T>C (p.Val2263Ala)
c.6785T>C (p.Val2262Ala)
c.6740T>C (p.Val2247Ala)
n.7405T>C
Xg.77520882A>TCA413707333ATRXc.7106T>A (p.Val2369Glu)
c.2204T>A (p.Val735Glu)
c.6992T>A (p.Val2331Glu)
c.*6734T>A (n.*6734T>A)
n.5426T>A
n.337T>A
c.7103T>A (p.Val2368Glu)
c.7019T>A (p.Val2340Glu)
c.6989T>A (p.Val2330Glu)
c.6941T>A (p.Val2314Glu)
c.6902T>A (p.Val2301Glu)
c.6827T>A (p.Val2276Glu)
n.8698T>A
c.7016T>A (p.Val2339Glu)
c.6986T>A (p.Val2329Glu)
c.6938T>A (p.Val2313Glu)
c.6905T>A (p.Val2302Glu)
c.6875T>A (p.Val2292Glu)
c.6872T>A (p.Val2291Glu)
c.6824T>A (p.Val2275Glu)
c.6788T>A (p.Val2263Glu)
c.6785T>A (p.Val2262Glu)
c.6740T>A (p.Val2247Glu)
n.7405T>A
Xg.77520883C>ACA413707336ATRXc.7105G>T (p.Val2369Leu)
c.2203G>T (p.Val735Leu)
c.6991G>T (p.Val2331Leu)
c.*6733G>T (n.*6733G>T)
n.5425G>T
n.336G>T
c.7102G>T (p.Val2368Leu)
c.7018G>T (p.Val2340Leu)
c.6988G>T (p.Val2330Leu)
c.6940G>T (p.Val2314Leu)
c.6901G>T (p.Val2301Leu)
c.6826G>T (p.Val2276Leu)
n.8697G>T
c.7015G>T (p.Val2339Leu)
c.6985G>T (p.Val2329Leu)
c.6937G>T (p.Val2313Leu)
c.6904G>T (p.Val2302Leu)
c.6874G>T (p.Val2292Leu)
c.6871G>T (p.Val2291Leu)
c.6823G>T (p.Val2275Leu)
c.6787G>T (p.Val2263Leu)
c.6784G>T (p.Val2262Leu)
c.6739G>T (p.Val2247Leu)
n.7404G>T
Xg.77520883C>GCA413707337ATRXc.7105G>C (p.Val2369Leu)
c.2203G>C (p.Val735Leu)
c.6991G>C (p.Val2331Leu)
c.*6733G>C (n.*6733G>C)
n.5425G>C
n.336G>C
c.7102G>C (p.Val2368Leu)
c.7018G>C (p.Val2340Leu)
c.6988G>C (p.Val2330Leu)
c.6940G>C (p.Val2314Leu)
c.6901G>C (p.Val2301Leu)
c.6826G>C (p.Val2276Leu)
n.8697G>C
c.7015G>C (p.Val2339Leu)
c.6985G>C (p.Val2329Leu)
c.6937G>C (p.Val2313Leu)
c.6904G>C (p.Val2302Leu)
c.6874G>C (p.Val2292Leu)
c.6871G>C (p.Val2291Leu)
c.6823G>C (p.Val2275Leu)
c.6787G>C (p.Val2263Leu)
c.6784G>C (p.Val2262Leu)
c.6739G>C (p.Val2247Leu)
n.7404G>C
Xg.77520883C>TCA413707339ATRXc.7105G>A (p.Val2369Ile)
c.2203G>A (p.Val735Ile)
c.6991G>A (p.Val2331Ile)
c.*6733G>A (n.*6733G>A)
n.5425G>A
n.336G>A
c.7102G>A (p.Val2368Ile)
c.7018G>A (p.Val2340Ile)
c.6988G>A (p.Val2330Ile)
c.6940G>A (p.Val2314Ile)
c.6901G>A (p.Val2301Ile)
c.6826G>A (p.Val2276Ile)
n.8697G>A
c.7015G>A (p.Val2339Ile)
c.6985G>A (p.Val2329Ile)
c.6937G>A (p.Val2313Ile)
c.6904G>A (p.Val2302Ile)
c.6874G>A (p.Val2292Ile)
c.6871G>A (p.Val2291Ile)
c.6823G>A (p.Val2275Ile)
c.6787G>A (p.Val2263Ile)
c.6784G>A (p.Val2262Ile)
c.6739G>A (p.Val2247Ile)
n.7404G>A
 gnomAD v4
Xg.77520884T>ACA413707343ATRXc.7104A>T (p.Gln2368His)
c.2202A>T (p.Gln734His)
c.6990A>T (p.Gln2330His)
c.*6732A>T (n.*6732A>T)
n.5424A>T
n.335A>T
c.7101A>T (p.Gln2367His)
c.7017A>T (p.Gln2339His)
c.6987A>T (p.Gln2329His)
c.6939A>T (p.Gln2313His)
c.6900A>T (p.Gln2300His)
c.6825A>T (p.Gln2275His)
n.8696A>T
c.7014A>T (p.Gln2338His)
c.6984A>T (p.Gln2328His)
c.6936A>T (p.Gln2312His)
c.6903A>T (p.Gln2301His)
c.6873A>T (p.Gln2291His)
c.6870A>T (p.Gln2290His)
c.6822A>T (p.Gln2274His)
c.6786A>T (p.Gln2262His)
c.6783A>T (p.Gln2261His)
c.6738A>T (p.Gln2246His)
n.7403A>T
Xg.77520884T>CCA517374420ATRXc.7104A>G (p.Gln2368=)
c.2202A>G (p.Gln734=)
c.6990A>G (p.Gln2330=)
c.*6732A>G (n.*6732A>G)
n.5424A>G
n.335A>G
c.7101A>G (p.Gln2367=)
c.7017A>G (p.Gln2339=)
c.6987A>G (p.Gln2329=)
c.6939A>G (p.Gln2313=)
c.6900A>G (p.Gln2300=)
c.6825A>G (p.Gln2275=)
n.8696A>G
c.7014A>G (p.Gln2338=)
c.6984A>G (p.Gln2328=)
c.6936A>G (p.Gln2312=)
c.6903A>G (p.Gln2301=)
c.6873A>G (p.Gln2291=)
c.6870A>G (p.Gln2290=)
c.6822A>G (p.Gln2274=)
c.6786A>G (p.Gln2262=)
c.6783A>G (p.Gln2261=)
c.6738A>G (p.Gln2246=)
n.7403A>G
Xg.77520884T>GCA413707341ATRXc.7104A>C (p.Gln2368His)
c.2202A>C (p.Gln734His)
c.6990A>C (p.Gln2330His)
c.*6732A>C (n.*6732A>C)
n.5424A>C
n.335A>C
c.7101A>C (p.Gln2367His)
c.7017A>C (p.Gln2339His)
c.6987A>C (p.Gln2329His)
c.6939A>C (p.Gln2313His)
c.6900A>C (p.Gln2300His)
c.6825A>C (p.Gln2275His)
n.8696A>C
c.7014A>C (p.Gln2338His)
c.6984A>C (p.Gln2328His)
c.6936A>C (p.Gln2312His)
c.6903A>C (p.Gln2301His)
c.6873A>C (p.Gln2291His)
c.6870A>C (p.Gln2290His)
c.6822A>C (p.Gln2274His)
c.6786A>C (p.Gln2262His)
c.6783A>C (p.Gln2261His)
c.6738A>C (p.Gln2246His)
n.7403A>C
 ClinVar dbSNP
Xg.77520885T>ACA413707345ATRXc.7103A>T (p.Gln2368Leu)
c.2201A>T (p.Gln734Leu)
c.6989A>T (p.Gln2330Leu)
c.*6731A>T (n.*6731A>T)
n.5423A>T
n.334A>T
c.7100A>T (p.Gln2367Leu)
c.7016A>T (p.Gln2339Leu)
c.6986A>T (p.Gln2329Leu)
c.6938A>T (p.Gln2313Leu)
c.6899A>T (p.Gln2300Leu)
c.6824A>T (p.Gln2275Leu)
n.8695A>T
c.7013A>T (p.Gln2338Leu)
c.6983A>T (p.Gln2328Leu)
c.6935A>T (p.Gln2312Leu)
c.6902A>T (p.Gln2301Leu)
c.6872A>T (p.Gln2291Leu)
c.6869A>T (p.Gln2290Leu)
c.6821A>T (p.Gln2274Leu)
c.6785A>T (p.Gln2262Leu)
c.6782A>T (p.Gln2261Leu)
c.6737A>T (p.Gln2246Leu)
n.7402A>T
Xg.77520885T>CCA413707346ATRXc.7103A>G (p.Gln2368Arg)
c.2201A>G (p.Gln734Arg)
c.6989A>G (p.Gln2330Arg)
c.*6731A>G (n.*6731A>G)
n.5423A>G
n.334A>G
c.7100A>G (p.Gln2367Arg)
c.7016A>G (p.Gln2339Arg)
c.6986A>G (p.Gln2329Arg)
c.6938A>G (p.Gln2313Arg)
c.6899A>G (p.Gln2300Arg)
c.6824A>G (p.Gln2275Arg)
n.8695A>G
c.7013A>G (p.Gln2338Arg)
c.6983A>G (p.Gln2328Arg)
c.6935A>G (p.Gln2312Arg)
c.6902A>G (p.Gln2301Arg)
c.6872A>G (p.Gln2291Arg)
c.6869A>G (p.Gln2290Arg)
c.6821A>G (p.Gln2274Arg)
c.6785A>G (p.Gln2262Arg)
c.6782A>G (p.Gln2261Arg)
c.6737A>G (p.Gln2246Arg)
n.7402A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.77520885T>GCA413707347ATRXc.7103A>C (p.Gln2368Pro)
c.2201A>C (p.Gln734Pro)
c.6989A>C (p.Gln2330Pro)
c.*6731A>C (n.*6731A>C)
n.5423A>C
n.334A>C
c.7100A>C (p.Gln2367Pro)
c.7016A>C (p.Gln2339Pro)
c.6986A>C (p.Gln2329Pro)
c.6938A>C (p.Gln2313Pro)
c.6899A>C (p.Gln2300Pro)
c.6824A>C (p.Gln2275Pro)
n.8695A>C
c.7013A>C (p.Gln2338Pro)
c.6983A>C (p.Gln2328Pro)
c.6935A>C (p.Gln2312Pro)
c.6902A>C (p.Gln2301Pro)
c.6872A>C (p.Gln2291Pro)
c.6869A>C (p.Gln2290Pro)
c.6821A>C (p.Gln2274Pro)
c.6785A>C (p.Gln2262Pro)
c.6782A>C (p.Gln2261Pro)
c.6737A>C (p.Gln2246Pro)
n.7402A>C
Xg.77520885T=CA2438933072ATRXc.7103A= (p.Gln2368=)
c.2201A= (p.Gln734=)
c.6989A= (p.Gln2330=)
c.*6731A= (n.*6731A=)
n.5423A=
n.334A=
c.7100A= (p.Gln2367=)
c.7016A= (p.Gln2339=)
c.6986A= (p.Gln2329=)
c.6938A= (p.Gln2313=)
c.6899A= (p.Gln2300=)
c.6824A= (p.Gln2275=)
n.8695A=
c.7013A= (p.Gln2338=)
c.6983A= (p.Gln2328=)
c.6935A= (p.Gln2312=)
c.6902A= (p.Gln2301=)
c.6872A= (p.Gln2291=)
c.6869A= (p.Gln2290=)
c.6821A= (p.Gln2274=)
c.6785A= (p.Gln2262=)
c.6782A= (p.Gln2261=)
c.6737A= (p.Gln2246=)
n.7402A=
Xg.77520886G>ACA413707349ATRXc.7102C>T (p.Gln2368Ter)
c.2200C>T (p.Gln734Ter)
c.6988C>T (p.Gln2330Ter)
c.*6730C>T (n.*6730C>T)
n.5422C>T
n.333C>T
c.7099C>T (p.Gln2367Ter)
c.7015C>T (p.Gln2339Ter)
c.6985C>T (p.Gln2329Ter)
c.6937C>T (p.Gln2313Ter)
c.6898C>T (p.Gln2300Ter)
c.6823C>T (p.Gln2275Ter)
n.8694C>T
c.7012C>T (p.Gln2338Ter)
c.6982C>T (p.Gln2328Ter)
c.6934C>T (p.Gln2312Ter)
c.6901C>T (p.Gln2301Ter)
c.6871C>T (p.Gln2291Ter)
c.6868C>T (p.Gln2290Ter)
c.6820C>T (p.Gln2274Ter)
c.6784C>T (p.Gln2262Ter)
c.6781C>T (p.Gln2261Ter)
c.6736C>T (p.Gln2246Ter)
n.7401C>T
Xg.77520886G>CCA413707351ATRXc.7102C>G (p.Gln2368Glu)
c.2200C>G (p.Gln734Glu)
c.6988C>G (p.Gln2330Glu)
c.*6730C>G (n.*6730C>G)
n.5422C>G
n.333C>G
c.7099C>G (p.Gln2367Glu)
c.7015C>G (p.Gln2339Glu)
c.6985C>G (p.Gln2329Glu)
c.6937C>G (p.Gln2313Glu)
c.6898C>G (p.Gln2300Glu)
c.6823C>G (p.Gln2275Glu)
n.8694C>G
c.7012C>G (p.Gln2338Glu)
c.6982C>G (p.Gln2328Glu)
c.6934C>G (p.Gln2312Glu)
c.6901C>G (p.Gln2301Glu)
c.6871C>G (p.Gln2291Glu)
c.6868C>G (p.Gln2290Glu)
c.6820C>G (p.Gln2274Glu)
c.6784C>G (p.Gln2262Glu)
c.6781C>G (p.Gln2261Glu)
c.6736C>G (p.Gln2246Glu)
n.7401C>G
Xg.77520886G>TCA413707353ATRXc.7102C>A (p.Gln2368Lys)
c.2200C>A (p.Gln734Lys)
c.6988C>A (p.Gln2330Lys)
c.*6730C>A (n.*6730C>A)
n.5422C>A
n.333C>A
c.7099C>A (p.Gln2367Lys)
c.7015C>A (p.Gln2339Lys)
c.6985C>A (p.Gln2329Lys)
c.6937C>A (p.Gln2313Lys)
c.6898C>A (p.Gln2300Lys)
c.6823C>A (p.Gln2275Lys)
n.8694C>A
c.7012C>A (p.Gln2338Lys)
c.6982C>A (p.Gln2328Lys)
c.6934C>A (p.Gln2312Lys)
c.6901C>A (p.Gln2301Lys)
c.6871C>A (p.Gln2291Lys)
c.6868C>A (p.Gln2290Lys)
c.6820C>A (p.Gln2274Lys)
c.6784C>A (p.Gln2262Lys)
c.6781C>A (p.Gln2261Lys)
c.6736C>A (p.Gln2246Lys)
n.7401C>A
Xg.77520887G>ACA517374421ATRXc.7101C>T (p.Ala2367=)
c.2199C>T (p.Ala733=)
c.6987C>T (p.Ala2329=)
c.*6729C>T (n.*6729C>T)
n.5421C>T
n.332C>T
c.7098C>T (p.Ala2366=)
c.7014C>T (p.Ala2338=)
c.6984C>T (p.Ala2328=)
c.6936C>T (p.Ala2312=)
c.6897C>T (p.Ala2299=)
c.6822C>T (p.Ala2274=)
n.8693C>T
c.7011C>T (p.Ala2337=)
c.6981C>T (p.Ala2327=)
c.6933C>T (p.Ala2311=)
c.6900C>T (p.Ala2300=)
c.6870C>T (p.Ala2290=)
c.6867C>T (p.Ala2289=)
c.6819C>T (p.Ala2273=)
c.6783C>T (p.Ala2261=)
c.6780C>T (p.Ala2260=)
c.6735C>T (p.Ala2245=)
n.7400C>T
Xg.77520887G>CCA517374422ATRXc.7101C>G (p.Ala2367=)
c.2199C>G (p.Ala733=)
c.6987C>G (p.Ala2329=)
c.*6729C>G (n.*6729C>G)
n.5421C>G
n.332C>G
c.7098C>G (p.Ala2366=)
c.7014C>G (p.Ala2338=)
c.6984C>G (p.Ala2328=)
c.6936C>G (p.Ala2312=)
c.6897C>G (p.Ala2299=)
c.6822C>G (p.Ala2274=)
n.8693C>G
c.7011C>G (p.Ala2337=)
c.6981C>G (p.Ala2327=)
c.6933C>G (p.Ala2311=)
c.6900C>G (p.Ala2300=)
c.6870C>G (p.Ala2290=)
c.6867C>G (p.Ala2289=)
c.6819C>G (p.Ala2273=)
c.6783C>G (p.Ala2261=)
c.6780C>G (p.Ala2260=)
c.6735C>G (p.Ala2245=)
n.7400C>G
Xg.77520887G>TCA517374423ATRXc.7101C>A (p.Ala2367=)
c.2199C>A (p.Ala733=)
c.6987C>A (p.Ala2329=)
c.*6729C>A (n.*6729C>A)
n.5421C>A
n.332C>A
c.7098C>A (p.Ala2366=)
c.7014C>A (p.Ala2338=)
c.6984C>A (p.Ala2328=)
c.6936C>A (p.Ala2312=)
c.6897C>A (p.Ala2299=)
c.6822C>A (p.Ala2274=)
n.8693C>A
c.7011C>A (p.Ala2337=)
c.6981C>A (p.Ala2327=)
c.6933C>A (p.Ala2311=)
c.6900C>A (p.Ala2300=)
c.6870C>A (p.Ala2290=)
c.6867C>A (p.Ala2289=)
c.6819C>A (p.Ala2273=)
c.6783C>A (p.Ala2261=)
c.6780C>A (p.Ala2260=)
c.6735C>A (p.Ala2245=)
n.7400C>A
Xg.77520888G>ACA413707355ATRXc.7100C>T (p.Ala2367Val)
c.2198C>T (p.Ala733Val)
c.6986C>T (p.Ala2329Val)
c.*6728C>T (n.*6728C>T)
n.5420C>T
n.331C>T
c.7097C>T (p.Ala2366Val)
c.7013C>T (p.Ala2338Val)
c.6983C>T (p.Ala2328Val)
c.6935C>T (p.Ala2312Val)
c.6896C>T (p.Ala2299Val)
c.6821C>T (p.Ala2274Val)
n.8692C>T
c.7010C>T (p.Ala2337Val)
c.6980C>T (p.Ala2327Val)
c.6932C>T (p.Ala2311Val)
c.6899C>T (p.Ala2300Val)
c.6869C>T (p.Ala2290Val)
c.6866C>T (p.Ala2289Val)
c.6818C>T (p.Ala2273Val)
c.6782C>T (p.Ala2261Val)
c.6779C>T (p.Ala2260Val)
c.6734C>T (p.Ala2245Val)
n.7399C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.77520888G>CCA413707357ATRXc.7100C>G (p.Ala2367Gly)
c.2198C>G (p.Ala733Gly)
c.6986C>G (p.Ala2329Gly)
c.*6728C>G (n.*6728C>G)
n.5420C>G
n.331C>G
c.7097C>G (p.Ala2366Gly)
c.7013C>G (p.Ala2338Gly)
c.6983C>G (p.Ala2328Gly)
c.6935C>G (p.Ala2312Gly)
c.6896C>G (p.Ala2299Gly)
c.6821C>G (p.Ala2274Gly)
n.8692C>G
c.7010C>G (p.Ala2337Gly)
c.6980C>G (p.Ala2327Gly)
c.6932C>G (p.Ala2311Gly)
c.6899C>G (p.Ala2300Gly)
c.6869C>G (p.Ala2290Gly)
c.6866C>G (p.Ala2289Gly)
c.6818C>G (p.Ala2273Gly)
c.6782C>G (p.Ala2261Gly)
c.6779C>G (p.Ala2260Gly)
c.6734C>G (p.Ala2245Gly)
n.7399C>G
Xg.77520888G=CA2438933073ATRXc.7100C= (p.Ala2367=)
c.2198C= (p.Ala733=)
c.6986C= (p.Ala2329=)
c.*6728C= (n.*6728C=)
n.5420C=
n.331C=
c.7097C= (p.Ala2366=)
c.7013C= (p.Ala2338=)
c.6983C= (p.Ala2328=)
c.6935C= (p.Ala2312=)
c.6896C= (p.Ala2299=)
c.6821C= (p.Ala2274=)
n.8692C=
c.7010C= (p.Ala2337=)
c.6980C= (p.Ala2327=)
c.6932C= (p.Ala2311=)
c.6899C= (p.Ala2300=)
c.6869C= (p.Ala2290=)
c.6866C= (p.Ala2289=)
c.6818C= (p.Ala2273=)
c.6782C= (p.Ala2261=)
c.6779C= (p.Ala2260=)
c.6734C= (p.Ala2245=)
n.7399C=
Xg.77520888G>TCA413707359ATRXc.7100C>A (p.Ala2367Asp)
c.2198C>A (p.Ala733Asp)
c.6986C>A (p.Ala2329Asp)
c.*6728C>A (n.*6728C>A)
n.5420C>A
n.331C>A
c.7097C>A (p.Ala2366Asp)
c.7013C>A (p.Ala2338Asp)
c.6983C>A (p.Ala2328Asp)
c.6935C>A (p.Ala2312Asp)
c.6896C>A (p.Ala2299Asp)
c.6821C>A (p.Ala2274Asp)
n.8692C>A
c.7010C>A (p.Ala2337Asp)
c.6980C>A (p.Ala2327Asp)
c.6932C>A (p.Ala2311Asp)
c.6899C>A (p.Ala2300Asp)
c.6869C>A (p.Ala2290Asp)
c.6866C>A (p.Ala2289Asp)
c.6818C>A (p.Ala2273Asp)
c.6782C>A (p.Ala2261Asp)
c.6779C>A (p.Ala2260Asp)
c.6734C>A (p.Ala2245Asp)
n.7399C>A
Xg.77520889C>ACA413707361ATRXc.7099G>T (p.Ala2367Ser)
c.2197G>T (p.Ala733Ser)
c.6985G>T (p.Ala2329Ser)
c.*6727G>T (n.*6727G>T)
n.5419G>T
n.330G>T
c.7096G>T (p.Ala2366Ser)
c.7012G>T (p.Ala2338Ser)
c.6982G>T (p.Ala2328Ser)
c.6934G>T (p.Ala2312Ser)
c.6895G>T (p.Ala2299Ser)
c.6820G>T (p.Ala2274Ser)
n.8691G>T
c.7009G>T (p.Ala2337Ser)
c.6979G>T (p.Ala2327Ser)
c.6931G>T (p.Ala2311Ser)
c.6898G>T (p.Ala2300Ser)
c.6868G>T (p.Ala2290Ser)
c.6865G>T (p.Ala2289Ser)
c.6817G>T (p.Ala2273Ser)
c.6781G>T (p.Ala2261Ser)
c.6778G>T (p.Ala2260Ser)
c.6733G>T (p.Ala2245Ser)
n.7398G>T
Xg.77520889C>GCA413707363ATRXc.7099G>C (p.Ala2367Pro)
c.2197G>C (p.Ala733Pro)
c.6985G>C (p.Ala2329Pro)
c.*6727G>C (n.*6727G>C)
n.5419G>C
n.330G>C
c.7096G>C (p.Ala2366Pro)
c.7012G>C (p.Ala2338Pro)
c.6982G>C (p.Ala2328Pro)
c.6934G>C (p.Ala2312Pro)
c.6895G>C (p.Ala2299Pro)
c.6820G>C (p.Ala2274Pro)
n.8691G>C
c.7009G>C (p.Ala2337Pro)
c.6979G>C (p.Ala2327Pro)
c.6931G>C (p.Ala2311Pro)
c.6898G>C (p.Ala2300Pro)
c.6868G>C (p.Ala2290Pro)
c.6865G>C (p.Ala2289Pro)
c.6817G>C (p.Ala2273Pro)
c.6781G>C (p.Ala2261Pro)
c.6778G>C (p.Ala2260Pro)
c.6733G>C (p.Ala2245Pro)
n.7398G>C
Xg.77520889C>TCA413707365ATRXc.7099G>A (p.Ala2367Thr)
c.2197G>A (p.Ala733Thr)
c.6985G>A (p.Ala2329Thr)
c.*6727G>A (n.*6727G>A)
n.5419G>A
n.330G>A
c.7096G>A (p.Ala2366Thr)
c.7012G>A (p.Ala2338Thr)
c.6982G>A (p.Ala2328Thr)
c.6934G>A (p.Ala2312Thr)
c.6895G>A (p.Ala2299Thr)
c.6820G>A (p.Ala2274Thr)
n.8691G>A
c.7009G>A (p.Ala2337Thr)
c.6979G>A (p.Ala2327Thr)
c.6931G>A (p.Ala2311Thr)
c.6898G>A (p.Ala2300Thr)
c.6868G>A (p.Ala2290Thr)
c.6865G>A (p.Ala2289Thr)
c.6817G>A (p.Ala2273Thr)
c.6781G>A (p.Ala2261Thr)
c.6778G>A (p.Ala2260Thr)
c.6733G>A (p.Ala2245Thr)
n.7398G>A
Xg.77520890C>ACA413707366ATRXc.7098G>T (p.Glu2366Asp)
c.2196G>T (p.Glu732Asp)
c.6984G>T (p.Glu2328Asp)
c.*6726G>T (n.*6726G>T)
n.5418G>T
n.329G>T
c.7095G>T (p.Glu2365Asp)
c.7011G>T (p.Glu2337Asp)
c.6981G>T (p.Glu2327Asp)
c.6933G>T (p.Glu2311Asp)
c.6894G>T (p.Glu2298Asp)
c.6819G>T (p.Glu2273Asp)
n.8690G>T
c.7008G>T (p.Glu2336Asp)
c.6978G>T (p.Glu2326Asp)
c.6930G>T (p.Glu2310Asp)
c.6897G>T (p.Glu2299Asp)
c.6867G>T (p.Glu2289Asp)
c.6864G>T (p.Glu2288Asp)
c.6816G>T (p.Glu2272Asp)
c.6780G>T (p.Glu2260Asp)
c.6777G>T (p.Glu2259Asp)
c.6732G>T (p.Glu2244Asp)
n.7397G>T
Xg.77520890C>GCA413707367ATRXc.7098G>C (p.Glu2366Asp)
c.2196G>C (p.Glu732Asp)
c.6984G>C (p.Glu2328Asp)
c.*6726G>C (n.*6726G>C)
n.5418G>C
n.329G>C
c.7095G>C (p.Glu2365Asp)
c.7011G>C (p.Glu2337Asp)
c.6981G>C (p.Glu2327Asp)
c.6933G>C (p.Glu2311Asp)
c.6894G>C (p.Glu2298Asp)
c.6819G>C (p.Glu2273Asp)
n.8690G>C
c.7008G>C (p.Glu2336Asp)
c.6978G>C (p.Glu2326Asp)
c.6930G>C (p.Glu2310Asp)
c.6897G>C (p.Glu2299Asp)
c.6867G>C (p.Glu2289Asp)
c.6864G>C (p.Glu2288Asp)
c.6816G>C (p.Glu2272Asp)
c.6780G>C (p.Glu2260Asp)
c.6777G>C (p.Glu2259Asp)
c.6732G>C (p.Glu2244Asp)
n.7397G>C
Xg.77520890C>TCA517374424ATRXc.7098G>A (p.Glu2366=)
c.2196G>A (p.Glu732=)
c.6984G>A (p.Glu2328=)
c.*6726G>A (n.*6726G>A)
n.5418G>A
n.329G>A
c.7095G>A (p.Glu2365=)
c.7011G>A (p.Glu2337=)
c.6981G>A (p.Glu2327=)
c.6933G>A (p.Glu2311=)
c.6894G>A (p.Glu2298=)
c.6819G>A (p.Glu2273=)
n.8690G>A
c.7008G>A (p.Glu2336=)
c.6978G>A (p.Glu2326=)
c.6930G>A (p.Glu2310=)
c.6897G>A (p.Glu2299=)
c.6867G>A (p.Glu2289=)
c.6864G>A (p.Glu2288=)
c.6816G>A (p.Glu2272=)
c.6780G>A (p.Glu2260=)
c.6777G>A (p.Glu2259=)
c.6732G>A (p.Glu2244=)
n.7397G>A
Xg.77520891T>ACA413707370ATRXc.7097A>T (p.Glu2366Val)
c.2195A>T (p.Glu732Val)
c.6983A>T (p.Glu2328Val)
c.*6725A>T (n.*6725A>T)
n.5417A>T
n.328A>T
c.7094A>T (p.Glu2365Val)
c.7010A>T (p.Glu2337Val)
c.6980A>T (p.Glu2327Val)
c.6932A>T (p.Glu2311Val)
c.6893A>T (p.Glu2298Val)
c.6818A>T (p.Glu2273Val)
n.8689A>T
c.7007A>T (p.Glu2336Val)
c.6977A>T (p.Glu2326Val)
c.6929A>T (p.Glu2310Val)
c.6896A>T (p.Glu2299Val)
c.6866A>T (p.Glu2289Val)
c.6863A>T (p.Glu2288Val)
c.6815A>T (p.Glu2272Val)
c.6779A>T (p.Glu2260Val)
c.6776A>T (p.Glu2259Val)
c.6731A>T (p.Glu2244Val)
n.7396A>T
Xg.77520891T>CCA413707372ATRXc.7097A>G (p.Glu2366Gly)
c.2195A>G (p.Glu732Gly)
c.6983A>G (p.Glu2328Gly)
c.*6725A>G (n.*6725A>G)
n.5417A>G
n.328A>G
c.7094A>G (p.Glu2365Gly)
c.7010A>G (p.Glu2337Gly)
c.6980A>G (p.Glu2327Gly)
c.6932A>G (p.Glu2311Gly)
c.6893A>G (p.Glu2298Gly)
c.6818A>G (p.Glu2273Gly)
n.8689A>G
c.7007A>G (p.Glu2336Gly)
c.6977A>G (p.Glu2326Gly)
c.6929A>G (p.Glu2310Gly)
c.6896A>G (p.Glu2299Gly)
c.6866A>G (p.Glu2289Gly)
c.6863A>G (p.Glu2288Gly)
c.6815A>G (p.Glu2272Gly)
c.6779A>G (p.Glu2260Gly)
c.6776A>G (p.Glu2259Gly)
c.6731A>G (p.Glu2244Gly)
n.7396A>G
Xg.77520891T>GCA413707373ATRXc.7097A>C (p.Glu2366Ala)
c.2195A>C (p.Glu732Ala)
c.6983A>C (p.Glu2328Ala)
c.*6725A>C (n.*6725A>C)
n.5417A>C
n.328A>C
c.7094A>C (p.Glu2365Ala)
c.7010A>C (p.Glu2337Ala)
c.6980A>C (p.Glu2327Ala)
c.6932A>C (p.Glu2311Ala)
c.6893A>C (p.Glu2298Ala)
c.6818A>C (p.Glu2273Ala)
n.8689A>C
c.7007A>C (p.Glu2336Ala)
c.6977A>C (p.Glu2326Ala)
c.6929A>C (p.Glu2310Ala)
c.6896A>C (p.Glu2299Ala)
c.6866A>C (p.Glu2289Ala)
c.6863A>C (p.Glu2288Ala)
c.6815A>C (p.Glu2272Ala)
c.6779A>C (p.Glu2260Ala)
c.6776A>C (p.Glu2259Ala)
c.6731A>C (p.Glu2244Ala)
n.7396A>C
Xg.77520892C>ACA413707376ATRXc.7096G>T (p.Glu2366Ter)
c.2194G>T (p.Glu732Ter)
c.6982G>T (p.Glu2328Ter)
c.*6724G>T (n.*6724G>T)
n.5416G>T
n.327G>T
c.7093G>T (p.Glu2365Ter)
c.7009G>T (p.Glu2337Ter)
c.6979G>T (p.Glu2327Ter)
c.6931G>T (p.Glu2311Ter)
c.6892G>T (p.Glu2298Ter)
c.6817G>T (p.Glu2273Ter)
n.8688G>T
c.7006G>T (p.Glu2336Ter)
c.6976G>T (p.Glu2326Ter)
c.6928G>T (p.Glu2310Ter)
c.6895G>T (p.Glu2299Ter)
c.6865G>T (p.Glu2289Ter)
c.6862G>T (p.Glu2288Ter)
c.6814G>T (p.Glu2272Ter)
c.6778G>T (p.Glu2260Ter)
c.6775G>T (p.Glu2259Ter)
c.6730G>T (p.Glu2244Ter)
n.7395G>T
Xg.77520892C>GCA413707377ATRXc.7096G>C (p.Glu2366Gln)
c.2194G>C (p.Glu732Gln)
c.6982G>C (p.Glu2328Gln)
c.*6724G>C (n.*6724G>C)
n.5416G>C
n.327G>C
c.7093G>C (p.Glu2365Gln)
c.7009G>C (p.Glu2337Gln)
c.6979G>C (p.Glu2327Gln)
c.6931G>C (p.Glu2311Gln)
c.6892G>C (p.Glu2298Gln)
c.6817G>C (p.Glu2273Gln)
n.8688G>C
c.7006G>C (p.Glu2336Gln)
c.6976G>C (p.Glu2326Gln)
c.6928G>C (p.Glu2310Gln)
c.6895G>C (p.Glu2299Gln)
c.6865G>C (p.Glu2289Gln)
c.6862G>C (p.Glu2288Gln)
c.6814G>C (p.Glu2272Gln)
c.6778G>C (p.Glu2260Gln)
c.6775G>C (p.Glu2259Gln)
c.6730G>C (p.Glu2244Gln)
n.7395G>C
Xg.77520892C>TCA413707381ATRXc.7096G>A (p.Glu2366Lys)
c.2194G>A (p.Glu732Lys)
c.6982G>A (p.Glu2328Lys)
c.*6724G>A (n.*6724G>A)
n.5416G>A
n.327G>A
c.7093G>A (p.Glu2365Lys)
c.7009G>A (p.Glu2337Lys)
c.6979G>A (p.Glu2327Lys)
c.6931G>A (p.Glu2311Lys)
c.6892G>A (p.Glu2298Lys)
c.6817G>A (p.Glu2273Lys)
n.8688G>A
c.7006G>A (p.Glu2336Lys)
c.6976G>A (p.Glu2326Lys)
c.6928G>A (p.Glu2310Lys)
c.6895G>A (p.Glu2299Lys)
c.6865G>A (p.Glu2289Lys)
c.6862G>A (p.Glu2288Lys)
c.6814G>A (p.Glu2272Lys)
c.6778G>A (p.Glu2260Lys)
c.6775G>A (p.Glu2259Lys)
c.6730G>A (p.Glu2244Lys)
n.7395G>A
Xg.77520893T>ACA517374425ATRXc.7095A>T (p.Ser2365=)
c.2193A>T (p.Ser731=)
c.6981A>T (p.Ser2327=)
c.*6723A>T (n.*6723A>T)
n.5415A>T
n.326A>T
c.7092A>T (p.Ser2364=)
c.7008A>T (p.Ser2336=)
c.6978A>T (p.Ser2326=)
c.6930A>T (p.Ser2310=)
c.6891A>T (p.Ser2297=)
c.6816A>T (p.Ser2272=)
n.8687A>T
c.7005A>T (p.Ser2335=)
c.6975A>T (p.Ser2325=)
c.6927A>T (p.Ser2309=)
c.6894A>T (p.Ser2298=)
c.6864A>T (p.Ser2288=)
c.6861A>T (p.Ser2287=)
c.6813A>T (p.Ser2271=)
c.6777A>T (p.Ser2259=)
c.6774A>T (p.Ser2258=)
c.6729A>T (p.Ser2243=)
n.7394A>T
Xg.77520893T>CCA517374426ATRXc.7095A>G (p.Ser2365=)
c.2193A>G (p.Ser731=)
c.6981A>G (p.Ser2327=)
c.*6723A>G (n.*6723A>G)
n.5415A>G
n.326A>G
c.7092A>G (p.Ser2364=)
c.7008A>G (p.Ser2336=)
c.6978A>G (p.Ser2326=)
c.6930A>G (p.Ser2310=)
c.6891A>G (p.Ser2297=)
c.6816A>G (p.Ser2272=)
n.8687A>G
c.7005A>G (p.Ser2335=)
c.6975A>G (p.Ser2325=)
c.6927A>G (p.Ser2309=)
c.6894A>G (p.Ser2298=)
c.6864A>G (p.Ser2288=)
c.6861A>G (p.Ser2287=)
c.6813A>G (p.Ser2271=)
c.6777A>G (p.Ser2259=)
c.6774A>G (p.Ser2258=)
c.6729A>G (p.Ser2243=)
n.7394A>G
 dbSNP gnomAD v4
Xg.77520893T>GCA517374427ATRXc.7095A>C (p.Ser2365=)
c.2193A>C (p.Ser731=)
c.6981A>C (p.Ser2327=)
c.*6723A>C (n.*6723A>C)
n.5415A>C
n.326A>C
c.7092A>C (p.Ser2364=)
c.7008A>C (p.Ser2336=)
c.6978A>C (p.Ser2326=)
c.6930A>C (p.Ser2310=)
c.6891A>C (p.Ser2297=)
c.6816A>C (p.Ser2272=)
n.8687A>C
c.7005A>C (p.Ser2335=)
c.6975A>C (p.Ser2325=)
c.6927A>C (p.Ser2309=)
c.6894A>C (p.Ser2298=)
c.6864A>C (p.Ser2288=)
c.6861A>C (p.Ser2287=)
c.6813A>C (p.Ser2271=)
c.6777A>C (p.Ser2259=)
c.6774A>C (p.Ser2258=)
c.6729A>C (p.Ser2243=)
n.7394A>C
Xg.77520893T=CA2438933074ATRXc.7095A= (p.Ser2365=)
c.2193A= (p.Ser731=)
c.6981A= (p.Ser2327=)
c.*6723A= (n.*6723A=)
n.5415A=
n.326A=
c.7092A= (p.Ser2364=)
c.7008A= (p.Ser2336=)
c.6978A= (p.Ser2326=)
c.6930A= (p.Ser2310=)
c.6891A= (p.Ser2297=)
c.6816A= (p.Ser2272=)
n.8687A=
c.7005A= (p.Ser2335=)
c.6975A= (p.Ser2325=)
c.6927A= (p.Ser2309=)
c.6894A= (p.Ser2298=)
c.6864A= (p.Ser2288=)
c.6861A= (p.Ser2287=)
c.6813A= (p.Ser2271=)
c.6777A= (p.Ser2259=)
c.6774A= (p.Ser2258=)
c.6729A= (p.Ser2243=)
n.7394A=
Xg.77520894G>ACA413707384ATRXc.7094C>T (p.Ser2365Leu)
c.2192C>T (p.Ser731Leu)
c.6980C>T (p.Ser2327Leu)
c.*6722C>T (n.*6722C>T)
n.5414C>T
n.325C>T
c.7091C>T (p.Ser2364Leu)
c.7007C>T (p.Ser2336Leu)
c.6977C>T (p.Ser2326Leu)
c.6929C>T (p.Ser2310Leu)
c.6890C>T (p.Ser2297Leu)
c.6815C>T (p.Ser2272Leu)
n.8686C>T
c.7004C>T (p.Ser2335Leu)
c.6974C>T (p.Ser2325Leu)
c.6926C>T (p.Ser2309Leu)
c.6893C>T (p.Ser2298Leu)
c.6863C>T (p.Ser2288Leu)
c.6860C>T (p.Ser2287Leu)
c.6812C>T (p.Ser2271Leu)
c.6776C>T (p.Ser2259Leu)
c.6773C>T (p.Ser2258Leu)
c.6728C>T (p.Ser2243Leu)
n.7393C>T
 COSMIC COSMIC
Xg.77520894G>CCA413707386ATRXc.7094C>G (p.Ser2365Ter)
c.2192C>G (p.Ser731Ter)
c.6980C>G (p.Ser2327Ter)
c.*6722C>G (n.*6722C>G)
n.5414C>G
n.325C>G
c.7091C>G (p.Ser2364Ter)
c.7007C>G (p.Ser2336Ter)
c.6977C>G (p.Ser2326Ter)
c.6929C>G (p.Ser2310Ter)
c.6890C>G (p.Ser2297Ter)
c.6815C>G (p.Ser2272Ter)
n.8686C>G
c.7004C>G (p.Ser2335Ter)
c.6974C>G (p.Ser2325Ter)
c.6926C>G (p.Ser2309Ter)
c.6893C>G (p.Ser2298Ter)
c.6863C>G (p.Ser2288Ter)
c.6860C>G (p.Ser2287Ter)
c.6812C>G (p.Ser2271Ter)
c.6776C>G (p.Ser2259Ter)
c.6773C>G (p.Ser2258Ter)
c.6728C>G (p.Ser2243Ter)
n.7393C>G
Xg.77520894G>TCA413707387ATRXc.7094C>A (p.Ser2365Ter)
c.2192C>A (p.Ser731Ter)
c.6980C>A (p.Ser2327Ter)
c.*6722C>A (n.*6722C>A)
n.5414C>A
n.325C>A
c.7091C>A (p.Ser2364Ter)
c.7007C>A (p.Ser2336Ter)
c.6977C>A (p.Ser2326Ter)
c.6929C>A (p.Ser2310Ter)
c.6890C>A (p.Ser2297Ter)
c.6815C>A (p.Ser2272Ter)
n.8686C>A
c.7004C>A (p.Ser2335Ter)
c.6974C>A (p.Ser2325Ter)
c.6926C>A (p.Ser2309Ter)
c.6893C>A (p.Ser2298Ter)
c.6863C>A (p.Ser2288Ter)
c.6860C>A (p.Ser2287Ter)
c.6812C>A (p.Ser2271Ter)
c.6776C>A (p.Ser2259Ter)
c.6773C>A (p.Ser2258Ter)
c.6728C>A (p.Ser2243Ter)
n.7393C>A
Xg.77520895A>CCA413707390ATRXc.7093T>G (p.Ser2365Ala)
c.2191T>G (p.Ser731Ala)
c.6979T>G (p.Ser2327Ala)
c.*6721T>G (n.*6721T>G)
n.5413T>G
n.324T>G
c.7090T>G (p.Ser2364Ala)
c.7006T>G (p.Ser2336Ala)
c.6976T>G (p.Ser2326Ala)
c.6928T>G (p.Ser2310Ala)
c.6889T>G (p.Ser2297Ala)
c.6814T>G (p.Ser2272Ala)
n.8685T>G
c.7003T>G (p.Ser2335Ala)
c.6973T>G (p.Ser2325Ala)
c.6925T>G (p.Ser2309Ala)
c.6892T>G (p.Ser2298Ala)
c.6862T>G (p.Ser2288Ala)
c.6859T>G (p.Ser2287Ala)
c.6811T>G (p.Ser2271Ala)
c.6775T>G (p.Ser2259Ala)
c.6772T>G (p.Ser2258Ala)
c.6727T>G (p.Ser2243Ala)
n.7392T>G
Xg.77520895A>GCA413707391ATRXc.7093T>C (p.Ser2365Pro)
c.2191T>C (p.Ser731Pro)
c.6979T>C (p.Ser2327Pro)
c.*6721T>C (n.*6721T>C)
n.5413T>C
n.324T>C
c.7090T>C (p.Ser2364Pro)
c.7006T>C (p.Ser2336Pro)
c.6976T>C (p.Ser2326Pro)
c.6928T>C (p.Ser2310Pro)
c.6889T>C (p.Ser2297Pro)
c.6814T>C (p.Ser2272Pro)
n.8685T>C
c.7003T>C (p.Ser2335Pro)
c.6973T>C (p.Ser2325Pro)
c.6925T>C (p.Ser2309Pro)
c.6892T>C (p.Ser2298Pro)
c.6862T>C (p.Ser2288Pro)
c.6859T>C (p.Ser2287Pro)
c.6811T>C (p.Ser2271Pro)
c.6775T>C (p.Ser2259Pro)
c.6772T>C (p.Ser2258Pro)
c.6727T>C (p.Ser2243Pro)
n.7392T>C
Xg.77520895A>TCA413707393ATRXc.7093T>A (p.Ser2365Thr)
c.2191T>A (p.Ser731Thr)
c.6979T>A (p.Ser2327Thr)
c.*6721T>A (n.*6721T>A)
n.5413T>A
n.324T>A
c.7090T>A (p.Ser2364Thr)
c.7006T>A (p.Ser2336Thr)
c.6976T>A (p.Ser2326Thr)
c.6928T>A (p.Ser2310Thr)
c.6889T>A (p.Ser2297Thr)
c.6814T>A (p.Ser2272Thr)
n.8685T>A
c.7003T>A (p.Ser2335Thr)
c.6973T>A (p.Ser2325Thr)
c.6925T>A (p.Ser2309Thr)
c.6892T>A (p.Ser2298Thr)
c.6862T>A (p.Ser2288Thr)
c.6859T>A (p.Ser2287Thr)
c.6811T>A (p.Ser2271Thr)
c.6775T>A (p.Ser2259Thr)
c.6772T>A (p.Ser2258Thr)
c.6727T>A (p.Ser2243Thr)
n.7392T>A
Xg.77520896G>ACA517374428ATRXc.7092C>T (p.Leu2364=)
c.2190C>T (p.Leu730=)
c.6978C>T (p.Leu2326=)
c.*6720C>T (n.*6720C>T)
n.5412C>T
n.323C>T
c.7089C>T (p.Leu2363=)
c.7005C>T (p.Leu2335=)
c.6975C>T (p.Leu2325=)
c.6927C>T (p.Leu2309=)
c.6888C>T (p.Leu2296=)
c.6813C>T (p.Leu2271=)
n.8684C>T
c.7002C>T (p.Leu2334=)
c.6972C>T (p.Leu2324=)
c.6924C>T (p.Leu2308=)
c.6891C>T (p.Leu2297=)
c.6861C>T (p.Leu2287=)
c.6858C>T (p.Leu2286=)
c.6810C>T (p.Leu2270=)
c.6774C>T (p.Leu2258=)
c.6771C>T (p.Leu2257=)
c.6726C>T (p.Leu2242=)
n.7391C>T
Xg.77520896G>CCA517374429ATRXc.7092C>G (p.Leu2364=)
c.2190C>G (p.Leu730=)
c.6978C>G (p.Leu2326=)
c.*6720C>G (n.*6720C>G)
n.5412C>G
n.323C>G
c.7089C>G (p.Leu2363=)
c.7005C>G (p.Leu2335=)
c.6975C>G (p.Leu2325=)
c.6927C>G (p.Leu2309=)
c.6888C>G (p.Leu2296=)
c.6813C>G (p.Leu2271=)
n.8684C>G
c.7002C>G (p.Leu2334=)
c.6972C>G (p.Leu2324=)
c.6924C>G (p.Leu2308=)
c.6891C>G (p.Leu2297=)
c.6861C>G (p.Leu2287=)
c.6858C>G (p.Leu2286=)
c.6810C>G (p.Leu2270=)
c.6774C>G (p.Leu2258=)
c.6771C>G (p.Leu2257=)
c.6726C>G (p.Leu2242=)
n.7391C>G
Xg.77520896G>TCA517374430ATRXc.7092C>A (p.Leu2364=)
c.2190C>A (p.Leu730=)
c.6978C>A (p.Leu2326=)
c.*6720C>A (n.*6720C>A)
n.5412C>A
n.323C>A
c.7089C>A (p.Leu2363=)
c.7005C>A (p.Leu2335=)
c.6975C>A (p.Leu2325=)
c.6927C>A (p.Leu2309=)
c.6888C>A (p.Leu2296=)
c.6813C>A (p.Leu2271=)
n.8684C>A
c.7002C>A (p.Leu2334=)
c.6972C>A (p.Leu2324=)
c.6924C>A (p.Leu2308=)
c.6891C>A (p.Leu2297=)
c.6861C>A (p.Leu2287=)
c.6858C>A (p.Leu2286=)
c.6810C>A (p.Leu2270=)
c.6774C>A (p.Leu2258=)
c.6771C>A (p.Leu2257=)
c.6726C>A (p.Leu2242=)
n.7391C>A
Xg.77520897A>CCA413707399ATRXc.7091T>G (p.Leu2364Arg)
c.2189T>G (p.Leu730Arg)
c.6977T>G (p.Leu2326Arg)
c.*6719T>G (n.*6719T>G)
n.5411T>G
n.322T>G
c.7088T>G (p.Leu2363Arg)
c.7004T>G (p.Leu2335Arg)
c.6974T>G (p.Leu2325Arg)
c.6926T>G (p.Leu2309Arg)
c.6887T>G (p.Leu2296Arg)
c.6812T>G (p.Leu2271Arg)
n.8683T>G
c.7001T>G (p.Leu2334Arg)
c.6971T>G (p.Leu2324Arg)
c.6923T>G (p.Leu2308Arg)
c.6890T>G (p.Leu2297Arg)
c.6860T>G (p.Leu2287Arg)
c.6857T>G (p.Leu2286Arg)
c.6809T>G (p.Leu2270Arg)
c.6773T>G (p.Leu2258Arg)
c.6770T>G (p.Leu2257Arg)
c.6725T>G (p.Leu2242Arg)
n.7390T>G
Xg.77520897A>GCA413707395ATRXc.7091T>C (p.Leu2364Pro)
c.2189T>C (p.Leu730Pro)
c.6977T>C (p.Leu2326Pro)
c.*6719T>C (n.*6719T>C)
n.5411T>C
n.322T>C
c.7088T>C (p.Leu2363Pro)
c.7004T>C (p.Leu2335Pro)
c.6974T>C (p.Leu2325Pro)
c.6926T>C (p.Leu2309Pro)
c.6887T>C (p.Leu2296Pro)
c.6812T>C (p.Leu2271Pro)
n.8683T>C
c.7001T>C (p.Leu2334Pro)
c.6971T>C (p.Leu2324Pro)
c.6923T>C (p.Leu2308Pro)
c.6890T>C (p.Leu2297Pro)
c.6860T>C (p.Leu2287Pro)
c.6857T>C (p.Leu2286Pro)
c.6809T>C (p.Leu2270Pro)
c.6773T>C (p.Leu2258Pro)
c.6770T>C (p.Leu2257Pro)
c.6725T>C (p.Leu2242Pro)
n.7390T>C
Xg.77520897A>TCA413707397ATRXc.7091T>A (p.Leu2364His)
c.2189T>A (p.Leu730His)
c.6977T>A (p.Leu2326His)
c.*6719T>A (n.*6719T>A)
n.5411T>A
n.322T>A
c.7088T>A (p.Leu2363His)
c.7004T>A (p.Leu2335His)
c.6974T>A (p.Leu2325His)
c.6926T>A (p.Leu2309His)
c.6887T>A (p.Leu2296His)
c.6812T>A (p.Leu2271His)
n.8683T>A
c.7001T>A (p.Leu2334His)
c.6971T>A (p.Leu2324His)
c.6923T>A (p.Leu2308His)
c.6890T>A (p.Leu2297His)
c.6860T>A (p.Leu2287His)
c.6857T>A (p.Leu2286His)
c.6809T>A (p.Leu2270His)
c.6773T>A (p.Leu2258His)
c.6770T>A (p.Leu2257His)
c.6725T>A (p.Leu2242His)
n.7390T>A
Xg.77520898G>ACA413707401ATRXc.7090C>T (p.Leu2364Phe)
c.2188C>T (p.Leu730Phe)
c.6976C>T (p.Leu2326Phe)
c.*6718C>T (n.*6718C>T)
n.5410C>T
n.321C>T
c.7087C>T (p.Leu2363Phe)
c.7003C>T (p.Leu2335Phe)
c.6973C>T (p.Leu2325Phe)
c.6925C>T (p.Leu2309Phe)
c.6886C>T (p.Leu2296Phe)
c.6811C>T (p.Leu2271Phe)
n.8682C>T
c.7000C>T (p.Leu2334Phe)
c.6970C>T (p.Leu2324Phe)
c.6922C>T (p.Leu2308Phe)
c.6889C>T (p.Leu2297Phe)
c.6859C>T (p.Leu2287Phe)
c.6856C>T (p.Leu2286Phe)
c.6808C>T (p.Leu2270Phe)
c.6772C>T (p.Leu2258Phe)
c.6769C>T (p.Leu2257Phe)
c.6724C>T (p.Leu2242Phe)
n.7389C>T
 COSMIC COSMIC
Xg.77520898G>CCA413707403ATRXc.7090C>G (p.Leu2364Val)
c.2188C>G (p.Leu730Val)
c.6976C>G (p.Leu2326Val)
c.*6718C>G (n.*6718C>G)
n.5410C>G
n.321C>G
c.7087C>G (p.Leu2363Val)
c.7003C>G (p.Leu2335Val)
c.6973C>G (p.Leu2325Val)
c.6925C>G (p.Leu2309Val)
c.6886C>G (p.Leu2296Val)
c.6811C>G (p.Leu2271Val)
n.8682C>G
c.7000C>G (p.Leu2334Val)
c.6970C>G (p.Leu2324Val)
c.6922C>G (p.Leu2308Val)
c.6889C>G (p.Leu2297Val)
c.6859C>G (p.Leu2287Val)
c.6856C>G (p.Leu2286Val)
c.6808C>G (p.Leu2270Val)
c.6772C>G (p.Leu2258Val)
c.6769C>G (p.Leu2257Val)
c.6724C>G (p.Leu2242Val)
n.7389C>G
Xg.77520898G>TCA413707404ATRXc.7090C>A (p.Leu2364Ile)
c.2188C>A (p.Leu730Ile)
c.6976C>A (p.Leu2326Ile)
c.*6718C>A (n.*6718C>A)
n.5410C>A
n.321C>A
c.7087C>A (p.Leu2363Ile)
c.7003C>A (p.Leu2335Ile)
c.6973C>A (p.Leu2325Ile)
c.6925C>A (p.Leu2309Ile)
c.6886C>A (p.Leu2296Ile)
c.6811C>A (p.Leu2271Ile)
n.8682C>A
c.7000C>A (p.Leu2334Ile)
c.6970C>A (p.Leu2324Ile)
c.6922C>A (p.Leu2308Ile)
c.6889C>A (p.Leu2297Ile)
c.6859C>A (p.Leu2287Ile)
c.6856C>A (p.Leu2286Ile)
c.6808C>A (p.Leu2270Ile)
c.6772C>A (p.Leu2258Ile)
c.6769C>A (p.Leu2257Ile)
c.6724C>A (p.Leu2242Ile)
n.7389C>A
 COSMIC COSMIC
Xg.77520899A>CCA413707406ATRXc.7089T>G (p.Asn2363Lys)
c.2187T>G (p.Asn729Lys)
c.6975T>G (p.Asn2325Lys)
c.*6717T>G (n.*6717T>G)
n.5409T>G
n.320T>G
c.7086T>G (p.Asn2362Lys)
c.7002T>G (p.Asn2334Lys)
c.6972T>G (p.Asn2324Lys)
c.6924T>G (p.Asn2308Lys)
c.6885T>G (p.Asn2295Lys)
c.6810T>G (p.Asn2270Lys)
n.8681T>G
c.6999T>G (p.Asn2333Lys)
c.6969T>G (p.Asn2323Lys)
c.6921T>G (p.Asn2307Lys)
c.6888T>G (p.Asn2296Lys)
c.6858T>G (p.Asn2286Lys)
c.6855T>G (p.Asn2285Lys)
c.6807T>G (p.Asn2269Lys)
c.6771T>G (p.Asn2257Lys)
c.6768T>G (p.Asn2256Lys)
c.6723T>G (p.Asn2241Lys)
n.7388T>G
Xg.77520899A>GCA517374431ATRXc.7089T>C (p.Asn2363=)
c.2187T>C (p.Asn729=)
c.6975T>C (p.Asn2325=)
c.*6717T>C (n.*6717T>C)
n.5409T>C
n.320T>C
c.7086T>C (p.Asn2362=)
c.7002T>C (p.Asn2334=)
c.6972T>C (p.Asn2324=)
c.6924T>C (p.Asn2308=)
c.6885T>C (p.Asn2295=)
c.6810T>C (p.Asn2270=)
n.8681T>C
c.6999T>C (p.Asn2333=)
c.6969T>C (p.Asn2323=)
c.6921T>C (p.Asn2307=)
c.6888T>C (p.Asn2296=)
c.6858T>C (p.Asn2286=)
c.6855T>C (p.Asn2285=)
c.6807T>C (p.Asn2269=)
c.6771T>C (p.Asn2257=)
c.6768T>C (p.Asn2256=)
c.6723T>C (p.Asn2241=)
n.7388T>C
 gnomAD v4
Xg.77520899A>TCA413707408ATRXc.7089T>A (p.Asn2363Lys)
c.2187T>A (p.Asn729Lys)
c.6975T>A (p.Asn2325Lys)
c.*6717T>A (n.*6717T>A)
n.5409T>A
n.320T>A
c.7086T>A (p.Asn2362Lys)
c.7002T>A (p.Asn2334Lys)
c.6972T>A (p.Asn2324Lys)
c.6924T>A (p.Asn2308Lys)
c.6885T>A (p.Asn2295Lys)
c.6810T>A (p.Asn2270Lys)
n.8681T>A
c.6999T>A (p.Asn2333Lys)
c.6969T>A (p.Asn2323Lys)
c.6921T>A (p.Asn2307Lys)
c.6888T>A (p.Asn2296Lys)
c.6858T>A (p.Asn2286Lys)
c.6855T>A (p.Asn2285Lys)
c.6807T>A (p.Asn2269Lys)
c.6771T>A (p.Asn2257Lys)
c.6768T>A (p.Asn2256Lys)
c.6723T>A (p.Asn2241Lys)
n.7388T>A
Xg.77520900T>ACA413707410ATRXc.7088A>T (p.Asn2363Ile)
c.2186A>T (p.Asn729Ile)
c.6974A>T (p.Asn2325Ile)
c.*6716A>T (n.*6716A>T)
n.5408A>T
n.319A>T
c.7085A>T (p.Asn2362Ile)
c.7001A>T (p.Asn2334Ile)
c.6971A>T (p.Asn2324Ile)
c.6923A>T (p.Asn2308Ile)
c.6884A>T (p.Asn2295Ile)
c.6809A>T (p.Asn2270Ile)
n.8680A>T
c.6998A>T (p.Asn2333Ile)
c.6968A>T (p.Asn2323Ile)
c.6920A>T (p.Asn2307Ile)
c.6887A>T (p.Asn2296Ile)
c.6857A>T (p.Asn2286Ile)
c.6854A>T (p.Asn2285Ile)
c.6806A>T (p.Asn2269Ile)
c.6770A>T (p.Asn2257Ile)
c.6767A>T (p.Asn2256Ile)
c.6722A>T (p.Asn2241Ile)
n.7387A>T
Xg.77520900T>CCA413707412ATRXc.7088A>G (p.Asn2363Ser)
c.2186A>G (p.Asn729Ser)
c.6974A>G (p.Asn2325Ser)
c.*6716A>G (n.*6716A>G)
n.5408A>G
n.319A>G
c.7085A>G (p.Asn2362Ser)
c.7001A>G (p.Asn2334Ser)
c.6971A>G (p.Asn2324Ser)
c.6923A>G (p.Asn2308Ser)
c.6884A>G (p.Asn2295Ser)
c.6809A>G (p.Asn2270Ser)
n.8680A>G
c.6998A>G (p.Asn2333Ser)
c.6968A>G (p.Asn2323Ser)
c.6920A>G (p.Asn2307Ser)
c.6887A>G (p.Asn2296Ser)
c.6857A>G (p.Asn2286Ser)
c.6854A>G (p.Asn2285Ser)
c.6806A>G (p.Asn2269Ser)
c.6770A>G (p.Asn2257Ser)
c.6767A>G (p.Asn2256Ser)
c.6722A>G (p.Asn2241Ser)
n.7387A>G
Xg.77520900T>GCA413707414ATRXc.7088A>C (p.Asn2363Thr)
c.2186A>C (p.Asn729Thr)
c.6974A>C (p.Asn2325Thr)
c.*6716A>C (n.*6716A>C)
n.5408A>C
n.319A>C
c.7085A>C (p.Asn2362Thr)
c.7001A>C (p.Asn2334Thr)
c.6971A>C (p.Asn2324Thr)
c.6923A>C (p.Asn2308Thr)
c.6884A>C (p.Asn2295Thr)
c.6809A>C (p.Asn2270Thr)
n.8680A>C
c.6998A>C (p.Asn2333Thr)
c.6968A>C (p.Asn2323Thr)
c.6920A>C (p.Asn2307Thr)
c.6887A>C (p.Asn2296Thr)
c.6857A>C (p.Asn2286Thr)
c.6854A>C (p.Asn2285Thr)
c.6806A>C (p.Asn2269Thr)
c.6770A>C (p.Asn2257Thr)
c.6767A>C (p.Asn2256Thr)
c.6722A>C (p.Asn2241Thr)
n.7387A>C
Xg.77520901T>ACA413707416ATRXc.7087A>T (p.Asn2363Tyr)
c.2185A>T (p.Asn729Tyr)
c.6973A>T (p.Asn2325Tyr)
c.*6715A>T (n.*6715A>T)
n.5407A>T
n.318A>T
c.7084A>T (p.Asn2362Tyr)
c.7000A>T (p.Asn2334Tyr)
c.6970A>T (p.Asn2324Tyr)
c.6922A>T (p.Asn2308Tyr)
c.6883A>T (p.Asn2295Tyr)
c.6808A>T (p.Asn2270Tyr)
n.8679A>T
c.6997A>T (p.Asn2333Tyr)
c.6967A>T (p.Asn2323Tyr)
c.6919A>T (p.Asn2307Tyr)
c.6886A>T (p.Asn2296Tyr)
c.6856A>T (p.Asn2286Tyr)
c.6853A>T (p.Asn2285Tyr)
c.6805A>T (p.Asn2269Tyr)
c.6769A>T (p.Asn2257Tyr)
c.6766A>T (p.Asn2256Tyr)
c.6721A>T (p.Asn2241Tyr)
n.7386A>T
Xg.77520901T>CCA413707417ATRXc.7087A>G (p.Asn2363Asp)
c.2185A>G (p.Asn729Asp)
c.6973A>G (p.Asn2325Asp)
c.*6715A>G (n.*6715A>G)
n.5407A>G
n.318A>G
c.7084A>G (p.Asn2362Asp)
c.7000A>G (p.Asn2334Asp)
c.6970A>G (p.Asn2324Asp)
c.6922A>G (p.Asn2308Asp)
c.6883A>G (p.Asn2295Asp)
c.6808A>G (p.Asn2270Asp)
n.8679A>G
c.6997A>G (p.Asn2333Asp)
c.6967A>G (p.Asn2323Asp)
c.6919A>G (p.Asn2307Asp)
c.6886A>G (p.Asn2296Asp)
c.6856A>G (p.Asn2286Asp)
c.6853A>G (p.Asn2285Asp)
c.6805A>G (p.Asn2269Asp)
c.6769A>G (p.Asn2257Asp)
c.6766A>G (p.Asn2256Asp)
c.6721A>G (p.Asn2241Asp)
n.7386A>G
 gnomAD v4
Xg.77520901T>GCA413707418ATRXc.7087A>C (p.Asn2363His)
c.2185A>C (p.Asn729His)
c.6973A>C (p.Asn2325His)
c.*6715A>C (n.*6715A>C)
n.5407A>C
n.318A>C
c.7084A>C (p.Asn2362His)
c.7000A>C (p.Asn2334His)
c.6970A>C (p.Asn2324His)
c.6922A>C (p.Asn2308His)
c.6883A>C (p.Asn2295His)
c.6808A>C (p.Asn2270His)
n.8679A>C
c.6997A>C (p.Asn2333His)
c.6967A>C (p.Asn2323His)
c.6919A>C (p.Asn2307His)
c.6886A>C (p.Asn2296His)
c.6856A>C (p.Asn2286His)
c.6853A>C (p.Asn2285His)
c.6805A>C (p.Asn2269His)
c.6769A>C (p.Asn2257His)
c.6766A>C (p.Asn2256His)
c.6721A>C (p.Asn2241His)
n.7386A>C
Xg.77520902C>ACA413707421ATRXc.7086G>T (p.Met2362Ile)
c.2184G>T (p.Met728Ile)
c.6972G>T (p.Met2324Ile)
c.*6714G>T (n.*6714G>T)
n.5406G>T
n.317G>T
c.7083G>T (p.Met2361Ile)
c.6999G>T (p.Met2333Ile)
c.6969G>T (p.Met2323Ile)
c.6921G>T (p.Met2307Ile)
c.6882G>T (p.Met2294Ile)
c.6807G>T (p.Met2269Ile)
n.8678G>T
c.6996G>T (p.Met2332Ile)
c.6966G>T (p.Met2322Ile)
c.6918G>T (p.Met2306Ile)
c.6885G>T (p.Met2295Ile)
c.6855G>T (p.Met2285Ile)
c.6852G>T (p.Met2284Ile)
c.6804G>T (p.Met2268Ile)
c.6768G>T (p.Met2256Ile)
c.6765G>T (p.Met2255Ile)
c.6720G>T (p.Met2240Ile)
n.7385G>T
Xg.77520902C=CA2438933075ATRXc.7086G= (p.Met2362=)
c.2184G= (p.Met728=)
c.6972G= (p.Met2324=)
c.*6714G= (n.*6714G=)
n.5406G=
n.317G=
c.7083G= (p.Met2361=)
c.6999G= (p.Met2333=)
c.6969G= (p.Met2323=)
c.6921G= (p.Met2307=)
c.6882G= (p.Met2294=)
c.6807G= (p.Met2269=)
n.8678G=
c.6996G= (p.Met2332=)
c.6966G= (p.Met2322=)
c.6918G= (p.Met2306=)
c.6885G= (p.Met2295=)
c.6855G= (p.Met2285=)
c.6852G= (p.Met2284=)
c.6804G= (p.Met2268=)
c.6768G= (p.Met2256=)
c.6765G= (p.Met2255=)
c.6720G= (p.Met2240=)
n.7385G=
Xg.77520902C>GCA413707423ATRXc.7086G>C (p.Met2362Ile)
c.2184G>C (p.Met728Ile)
c.6972G>C (p.Met2324Ile)
c.*6714G>C (n.*6714G>C)
n.5406G>C
n.317G>C
c.7083G>C (p.Met2361Ile)
c.6999G>C (p.Met2333Ile)
c.6969G>C (p.Met2323Ile)
c.6921G>C (p.Met2307Ile)
c.6882G>C (p.Met2294Ile)
c.6807G>C (p.Met2269Ile)
n.8678G>C
c.6996G>C (p.Met2332Ile)
c.6966G>C (p.Met2322Ile)
c.6918G>C (p.Met2306Ile)
c.6885G>C (p.Met2295Ile)
c.6855G>C (p.Met2285Ile)
c.6852G>C (p.Met2284Ile)
c.6804G>C (p.Met2268Ile)
c.6768G>C (p.Met2256Ile)
c.6765G>C (p.Met2255Ile)
c.6720G>C (p.Met2240Ile)
n.7385G>C
 gnomAD v4
Xg.77520902C>TCA413707419ATRXc.7086G>A (p.Met2362Ile)
c.2184G>A (p.Met728Ile)
c.6972G>A (p.Met2324Ile)
c.*6714G>A (n.*6714G>A)
n.5406G>A
n.317G>A
c.7083G>A (p.Met2361Ile)
c.6999G>A (p.Met2333Ile)
c.6969G>A (p.Met2323Ile)
c.6921G>A (p.Met2307Ile)
c.6882G>A (p.Met2294Ile)
c.6807G>A (p.Met2269Ile)
n.8678G>A
c.6996G>A (p.Met2332Ile)
c.6966G>A (p.Met2322Ile)
c.6918G>A (p.Met2306Ile)
c.6885G>A (p.Met2295Ile)
c.6855G>A (p.Met2285Ile)
c.6852G>A (p.Met2284Ile)
c.6804G>A (p.Met2268Ile)
c.6768G>A (p.Met2256Ile)
c.6765G>A (p.Met2255Ile)
c.6720G>A (p.Met2240Ile)
n.7385G>A
 dbSNP
Xg.77520903A>CCA413707429ATRXc.7085T>G (p.Met2362Arg)
c.2183T>G (p.Met728Arg)
c.6971T>G (p.Met2324Arg)
c.*6713T>G (n.*6713T>G)
n.5405T>G
n.316T>G
c.7082T>G (p.Met2361Arg)
c.6998T>G (p.Met2333Arg)
c.6968T>G (p.Met2323Arg)
c.6920T>G (p.Met2307Arg)
c.6881T>G (p.Met2294Arg)
c.6806T>G (p.Met2269Arg)
n.8677T>G
c.6995T>G (p.Met2332Arg)
c.6965T>G (p.Met2322Arg)
c.6917T>G (p.Met2306Arg)
c.6884T>G (p.Met2295Arg)
c.6854T>G (p.Met2285Arg)
c.6851T>G (p.Met2284Arg)
c.6803T>G (p.Met2268Arg)
c.6767T>G (p.Met2256Arg)
c.6764T>G (p.Met2255Arg)
c.6719T>G (p.Met2240Arg)
n.7384T>G
Xg.77520903A>GCA413707425ATRXc.7085T>C (p.Met2362Thr)
c.2183T>C (p.Met728Thr)
c.6971T>C (p.Met2324Thr)
c.*6713T>C (n.*6713T>C)
n.5405T>C
n.316T>C
c.7082T>C (p.Met2361Thr)
c.6998T>C (p.Met2333Thr)
c.6968T>C (p.Met2323Thr)
c.6920T>C (p.Met2307Thr)
c.6881T>C (p.Met2294Thr)
c.6806T>C (p.Met2269Thr)
n.8677T>C
c.6995T>C (p.Met2332Thr)
c.6965T>C (p.Met2322Thr)
c.6917T>C (p.Met2306Thr)
c.6884T>C (p.Met2295Thr)
c.6854T>C (p.Met2285Thr)
c.6851T>C (p.Met2284Thr)
c.6803T>C (p.Met2268Thr)
c.6767T>C (p.Met2256Thr)
c.6764T>C (p.Met2255Thr)
c.6719T>C (p.Met2240Thr)
n.7384T>C
 gnomAD v4
Xg.77520903A>TCA413707427ATRXc.7085T>A (p.Met2362Lys)
c.2183T>A (p.Met728Lys)
c.6971T>A (p.Met2324Lys)
c.*6713T>A (n.*6713T>A)
n.5405T>A
n.316T>A
c.7082T>A (p.Met2361Lys)
c.6998T>A (p.Met2333Lys)
c.6968T>A (p.Met2323Lys)
c.6920T>A (p.Met2307Lys)
c.6881T>A (p.Met2294Lys)
c.6806T>A (p.Met2269Lys)
n.8677T>A
c.6995T>A (p.Met2332Lys)
c.6965T>A (p.Met2322Lys)
c.6917T>A (p.Met2306Lys)
c.6884T>A (p.Met2295Lys)
c.6854T>A (p.Met2285Lys)
c.6851T>A (p.Met2284Lys)
c.6803T>A (p.Met2268Lys)
c.6767T>A (p.Met2256Lys)
c.6764T>A (p.Met2255Lys)
c.6719T>A (p.Met2240Lys)
n.7384T>A
Xg.77520904T>ACA413707431ATRXc.7084A>T (p.Met2362Leu)
c.2182A>T (p.Met728Leu)
c.6970A>T (p.Met2324Leu)
c.*6712A>T (n.*6712A>T)
n.5404A>T
n.315A>T
c.7081A>T (p.Met2361Leu)
c.6997A>T (p.Met2333Leu)
c.6967A>T (p.Met2323Leu)
c.6919A>T (p.Met2307Leu)
c.6880A>T (p.Met2294Leu)
c.6805A>T (p.Met2269Leu)
n.8676A>T
c.6994A>T (p.Met2332Leu)
c.6964A>T (p.Met2322Leu)
c.6916A>T (p.Met2306Leu)
c.6883A>T (p.Met2295Leu)
c.6853A>T (p.Met2285Leu)
c.6850A>T (p.Met2284Leu)
c.6802A>T (p.Met2268Leu)
c.6766A>T (p.Met2256Leu)
c.6763A>T (p.Met2255Leu)
c.6718A>T (p.Met2240Leu)
n.7383A>T
Xg.77520904T>CCA413707433ATRXc.7084A>G (p.Met2362Val)
c.2182A>G (p.Met728Val)
c.6970A>G (p.Met2324Val)
c.*6712A>G (n.*6712A>G)
n.5404A>G
n.315A>G
c.7081A>G (p.Met2361Val)
c.6997A>G (p.Met2333Val)
c.6967A>G (p.Met2323Val)
c.6919A>G (p.Met2307Val)
c.6880A>G (p.Met2294Val)
c.6805A>G (p.Met2269Val)
n.8676A>G
c.6994A>G (p.Met2332Val)
c.6964A>G (p.Met2322Val)
c.6916A>G (p.Met2306Val)
c.6883A>G (p.Met2295Val)
c.6853A>G (p.Met2285Val)
c.6850A>G (p.Met2284Val)
c.6802A>G (p.Met2268Val)
c.6766A>G (p.Met2256Val)
c.6763A>G (p.Met2255Val)
c.6718A>G (p.Met2240Val)
n.7383A>G
 ClinVar dbSNP
Xg.77520904T>GCA413707434ATRXc.7084A>C (p.Met2362Leu)
c.2182A>C (p.Met728Leu)
c.6970A>C (p.Met2324Leu)
c.*6712A>C (n.*6712A>C)
n.5404A>C
n.315A>C
c.7081A>C (p.Met2361Leu)
c.6997A>C (p.Met2333Leu)
c.6967A>C (p.Met2323Leu)
c.6919A>C (p.Met2307Leu)
c.6880A>C (p.Met2294Leu)
c.6805A>C (p.Met2269Leu)
n.8676A>C
c.6994A>C (p.Met2332Leu)
c.6964A>C (p.Met2322Leu)
c.6916A>C (p.Met2306Leu)
c.6883A>C (p.Met2295Leu)
c.6853A>C (p.Met2285Leu)
c.6850A>C (p.Met2284Leu)
c.6802A>C (p.Met2268Leu)
c.6766A>C (p.Met2256Leu)
c.6763A>C (p.Met2255Leu)
c.6718A>C (p.Met2240Leu)
n.7383A>C
Xg.77520905G>ACA10457423ATRXc.7083C>T (p.Asn2361=)
c.2181C>T (p.Asn727=)
c.6969C>T (p.Asn2323=)
c.*6711C>T (n.*6711C>T)
n.5403C>T
n.314C>T
c.7080C>T (p.Asn2360=)
c.6996C>T (p.Asn2332=)
c.6966C>T (p.Asn2322=)
c.6918C>T (p.Asn2306=)
c.6879C>T (p.Asn2293=)
c.6804C>T (p.Asn2268=)
n.8675C>T
c.6993C>T (p.Asn2331=)
c.6963C>T (p.Asn2321=)
c.6915C>T (p.Asn2305=)
c.6882C>T (p.Asn2294=)
c.6852C>T (p.Asn2284=)
c.6849C>T (p.Asn2283=)
c.6801C>T (p.Asn2267=)
c.6765C>T (p.Asn2255=)
c.6762C>T (p.Asn2254=)
c.6717C>T (p.Asn2239=)
n.7382C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77520905G>CCA413707438ATRXc.7083C>G (p.Asn2361Lys)
c.2181C>G (p.Asn727Lys)
c.6969C>G (p.Asn2323Lys)
c.*6711C>G (n.*6711C>G)
n.5403C>G
n.314C>G
c.7080C>G (p.Asn2360Lys)
c.6996C>G (p.Asn2332Lys)
c.6966C>G (p.Asn2322Lys)
c.6918C>G (p.Asn2306Lys)
c.6879C>G (p.Asn2293Lys)
c.6804C>G (p.Asn2268Lys)
n.8675C>G
c.6993C>G (p.Asn2331Lys)
c.6963C>G (p.Asn2321Lys)
c.6915C>G (p.Asn2305Lys)
c.6882C>G (p.Asn2294Lys)
c.6852C>G (p.Asn2284Lys)
c.6849C>G (p.Asn2283Lys)
c.6801C>G (p.Asn2267Lys)
c.6765C>G (p.Asn2255Lys)
c.6762C>G (p.Asn2254Lys)
c.6717C>G (p.Asn2239Lys)
n.7382C>G
Xg.77520905G=CA2438933076ATRXc.7083C= (p.Asn2361=)
c.2181C= (p.Asn727=)
c.6969C= (p.Asn2323=)
c.*6711C= (n.*6711C=)
n.5403C=
n.314C=
c.7080C= (p.Asn2360=)
c.6996C= (p.Asn2332=)
c.6966C= (p.Asn2322=)
c.6918C= (p.Asn2306=)
c.6879C= (p.Asn2293=)
c.6804C= (p.Asn2268=)
n.8675C=
c.6993C= (p.Asn2331=)
c.6963C= (p.Asn2321=)
c.6915C= (p.Asn2305=)
c.6882C= (p.Asn2294=)
c.6852C= (p.Asn2284=)
c.6849C= (p.Asn2283=)
c.6801C= (p.Asn2267=)
c.6765C= (p.Asn2255=)
c.6762C= (p.Asn2254=)
c.6717C= (p.Asn2239=)
n.7382C=
Xg.77520905G>TCA413707439ATRXc.7083C>A (p.Asn2361Lys)
c.2181C>A (p.Asn727Lys)
c.6969C>A (p.Asn2323Lys)
c.*6711C>A (n.*6711C>A)
n.5403C>A
n.314C>A
c.7080C>A (p.Asn2360Lys)
c.6996C>A (p.Asn2332Lys)
c.6966C>A (p.Asn2322Lys)
c.6918C>A (p.Asn2306Lys)
c.6879C>A (p.Asn2293Lys)
c.6804C>A (p.Asn2268Lys)
n.8675C>A
c.6993C>A (p.Asn2331Lys)
c.6963C>A (p.Asn2321Lys)
c.6915C>A (p.Asn2305Lys)
c.6882C>A (p.Asn2294Lys)
c.6852C>A (p.Asn2284Lys)
c.6849C>A (p.Asn2283Lys)
c.6801C>A (p.Asn2267Lys)
c.6765C>A (p.Asn2255Lys)
c.6762C>A (p.Asn2254Lys)
c.6717C>A (p.Asn2239Lys)
n.7382C>A
Xg.77520906T>ACA413707442ATRXc.7082A>T (p.Asn2361Ile)
c.2180A>T (p.Asn727Ile)
c.6968A>T (p.Asn2323Ile)
c.*6710A>T (n.*6710A>T)
n.5402A>T
n.313A>T
c.7079A>T (p.Asn2360Ile)
c.6995A>T (p.Asn2332Ile)
c.6965A>T (p.Asn2322Ile)
c.6917A>T (p.Asn2306Ile)
c.6878A>T (p.Asn2293Ile)
c.6803A>T (p.Asn2268Ile)
n.8674A>T
c.6992A>T (p.Asn2331Ile)
c.6962A>T (p.Asn2321Ile)
c.6914A>T (p.Asn2305Ile)
c.6881A>T (p.Asn2294Ile)
c.6851A>T (p.Asn2284Ile)
c.6848A>T (p.Asn2283Ile)
c.6800A>T (p.Asn2267Ile)
c.6764A>T (p.Asn2255Ile)
c.6761A>T (p.Asn2254Ile)
c.6716A>T (p.Asn2239Ile)
n.7381A>T
Xg.77520906T>CCA413707444ATRXc.7082A>G (p.Asn2361Ser)
c.2180A>G (p.Asn727Ser)
c.6968A>G (p.Asn2323Ser)
c.*6710A>G (n.*6710A>G)
n.5402A>G
n.313A>G
c.7079A>G (p.Asn2360Ser)
c.6995A>G (p.Asn2332Ser)
c.6965A>G (p.Asn2322Ser)
c.6917A>G (p.Asn2306Ser)
c.6878A>G (p.Asn2293Ser)
c.6803A>G (p.Asn2268Ser)
n.8674A>G
c.6992A>G (p.Asn2331Ser)
c.6962A>G (p.Asn2321Ser)
c.6914A>G (p.Asn2305Ser)
c.6881A>G (p.Asn2294Ser)
c.6851A>G (p.Asn2284Ser)
c.6848A>G (p.Asn2283Ser)
c.6800A>G (p.Asn2267Ser)
c.6764A>G (p.Asn2255Ser)
c.6761A>G (p.Asn2254Ser)
c.6716A>G (p.Asn2239Ser)
n.7381A>G
Xg.77520906T>GCA413707446ATRXc.7082A>C (p.Asn2361Thr)
c.2180A>C (p.Asn727Thr)
c.6968A>C (p.Asn2323Thr)
c.*6710A>C (n.*6710A>C)
n.5402A>C
n.313A>C
c.7079A>C (p.Asn2360Thr)
c.6995A>C (p.Asn2332Thr)
c.6965A>C (p.Asn2322Thr)
c.6917A>C (p.Asn2306Thr)
c.6878A>C (p.Asn2293Thr)
c.6803A>C (p.Asn2268Thr)
n.8674A>C
c.6992A>C (p.Asn2331Thr)
c.6962A>C (p.Asn2321Thr)
c.6914A>C (p.Asn2305Thr)
c.6881A>C (p.Asn2294Thr)
c.6851A>C (p.Asn2284Thr)
c.6848A>C (p.Asn2283Thr)
c.6800A>C (p.Asn2267Thr)
c.6764A>C (p.Asn2255Thr)
c.6761A>C (p.Asn2254Thr)
c.6716A>C (p.Asn2239Thr)
n.7381A>C
Xg.77520907T>ACA413707448ATRXc.7081A>T (p.Asn2361Tyr)
c.2179A>T (p.Asn727Tyr)
c.6967A>T (p.Asn2323Tyr)
c.*6709A>T (n.*6709A>T)
n.5401A>T
n.312A>T
c.7078A>T (p.Asn2360Tyr)
c.6994A>T (p.Asn2332Tyr)
c.6964A>T (p.Asn2322Tyr)
c.6916A>T (p.Asn2306Tyr)
c.6877A>T (p.Asn2293Tyr)
c.6802A>T (p.Asn2268Tyr)
n.8673A>T
c.6991A>T (p.Asn2331Tyr)
c.6961A>T (p.Asn2321Tyr)
c.6913A>T (p.Asn2305Tyr)
c.6880A>T (p.Asn2294Tyr)
c.6850A>T (p.Asn2284Tyr)
c.6847A>T (p.Asn2283Tyr)
c.6799A>T (p.Asn2267Tyr)
c.6763A>T (p.Asn2255Tyr)
c.6760A>T (p.Asn2254Tyr)
c.6715A>T (p.Asn2239Tyr)
n.7380A>T
Xg.77520907T>CCA413707450ATRXc.7081A>G (p.Asn2361Asp)
c.2179A>G (p.Asn727Asp)
c.6967A>G (p.Asn2323Asp)
c.*6709A>G (n.*6709A>G)
n.5401A>G
n.312A>G
c.7078A>G (p.Asn2360Asp)
c.6994A>G (p.Asn2332Asp)
c.6964A>G (p.Asn2322Asp)
c.6916A>G (p.Asn2306Asp)
c.6877A>G (p.Asn2293Asp)
c.6802A>G (p.Asn2268Asp)
n.8673A>G
c.6991A>G (p.Asn2331Asp)
c.6961A>G (p.Asn2321Asp)
c.6913A>G (p.Asn2305Asp)
c.6880A>G (p.Asn2294Asp)
c.6850A>G (p.Asn2284Asp)
c.6847A>G (p.Asn2283Asp)
c.6799A>G (p.Asn2267Asp)
c.6763A>G (p.Asn2255Asp)
c.6760A>G (p.Asn2254Asp)
c.6715A>G (p.Asn2239Asp)
n.7380A>G
Xg.77520907T>GCA413707451ATRXc.7081A>C (p.Asn2361His)
c.2179A>C (p.Asn727His)
c.6967A>C (p.Asn2323His)
c.*6709A>C (n.*6709A>C)
n.5401A>C
n.312A>C
c.7078A>C (p.Asn2360His)
c.6994A>C (p.Asn2332His)
c.6964A>C (p.Asn2322His)
c.6916A>C (p.Asn2306His)
c.6877A>C (p.Asn2293His)
c.6802A>C (p.Asn2268His)
n.8673A>C
c.6991A>C (p.Asn2331His)
c.6961A>C (p.Asn2321His)
c.6913A>C (p.Asn2305His)
c.6880A>C (p.Asn2294His)
c.6850A>C (p.Asn2284His)
c.6847A>C (p.Asn2283His)
c.6799A>C (p.Asn2267His)
c.6763A>C (p.Asn2255His)
c.6760A>C (p.Asn2254His)
c.6715A>C (p.Asn2239His)
n.7380A>C
Xg.77520908C>ACA413707453ATRXc.7080G>T (p.Glu2360Asp)
c.2178G>T (p.Glu726Asp)
c.6966G>T (p.Glu2322Asp)
c.*6708G>T (n.*6708G>T)
n.5400G>T
n.311G>T
c.7077G>T (p.Glu2359Asp)
c.6993G>T (p.Glu2331Asp)
c.6963G>T (p.Glu2321Asp)
c.6915G>T (p.Glu2305Asp)
c.6876G>T (p.Glu2292Asp)
c.6801G>T (p.Glu2267Asp)
n.8672G>T
c.6990G>T (p.Glu2330Asp)
c.6960G>T (p.Glu2320Asp)
c.6912G>T (p.Glu2304Asp)
c.6879G>T (p.Glu2293Asp)
c.6849G>T (p.Glu2283Asp)
c.6846G>T (p.Glu2282Asp)
c.6798G>T (p.Glu2266Asp)
c.6762G>T (p.Glu2254Asp)
c.6759G>T (p.Glu2253Asp)
c.6714G>T (p.Glu2238Asp)
n.7379G>T
Xg.77520908C>GCA413707455ATRXc.7080G>C (p.Glu2360Asp)
c.2178G>C (p.Glu726Asp)
c.6966G>C (p.Glu2322Asp)
c.*6708G>C (n.*6708G>C)
n.5400G>C
n.311G>C
c.7077G>C (p.Glu2359Asp)
c.6993G>C (p.Glu2331Asp)
c.6963G>C (p.Glu2321Asp)
c.6915G>C (p.Glu2305Asp)
c.6876G>C (p.Glu2292Asp)
c.6801G>C (p.Glu2267Asp)
n.8672G>C
c.6990G>C (p.Glu2330Asp)
c.6960G>C (p.Glu2320Asp)
c.6912G>C (p.Glu2304Asp)
c.6879G>C (p.Glu2293Asp)
c.6849G>C (p.Glu2283Asp)
c.6846G>C (p.Glu2282Asp)
c.6798G>C (p.Glu2266Asp)
c.6762G>C (p.Glu2254Asp)
c.6759G>C (p.Glu2253Asp)
c.6714G>C (p.Glu2238Asp)
n.7379G>C
Xg.77520908C>TCA517374432ATRXc.7080G>A (p.Glu2360=)
c.2178G>A (p.Glu726=)
c.6966G>A (p.Glu2322=)
c.*6708G>A (n.*6708G>A)
n.5400G>A
n.311G>A
c.7077G>A (p.Glu2359=)
c.6993G>A (p.Glu2331=)
c.6963G>A (p.Glu2321=)
c.6915G>A (p.Glu2305=)
c.6876G>A (p.Glu2292=)
c.6801G>A (p.Glu2267=)
n.8672G>A
c.6990G>A (p.Glu2330=)
c.6960G>A (p.Glu2320=)
c.6912G>A (p.Glu2304=)
c.6879G>A (p.Glu2293=)
c.6849G>A (p.Glu2283=)
c.6846G>A (p.Glu2282=)
c.6798G>A (p.Glu2266=)
c.6762G>A (p.Glu2254=)
c.6759G>A (p.Glu2253=)
c.6714G>A (p.Glu2238=)
n.7379G>A
Xg.77520909T>ACA413707457ATRXc.7079A>T (p.Glu2360Val)
c.2177A>T (p.Glu726Val)
c.6965A>T (p.Glu2322Val)
c.*6707A>T (n.*6707A>T)
n.5399A>T
n.310A>T
c.7076A>T (p.Glu2359Val)
c.6992A>T (p.Glu2331Val)
c.6962A>T (p.Glu2321Val)
c.6914A>T (p.Glu2305Val)
c.6875A>T (p.Glu2292Val)
c.6800A>T (p.Glu2267Val)
n.8671A>T
c.6989A>T (p.Glu2330Val)
c.6959A>T (p.Glu2320Val)
c.6911A>T (p.Glu2304Val)
c.6878A>T (p.Glu2293Val)
c.6848A>T (p.Glu2283Val)
c.6845A>T (p.Glu2282Val)
c.6797A>T (p.Glu2266Val)
c.6761A>T (p.Glu2254Val)
c.6758A>T (p.Glu2253Val)
c.6713A>T (p.Glu2238Val)
n.7378A>T
Xg.77520909T>CCA413707458ATRXc.7079A>G (p.Glu2360Gly)
c.2177A>G (p.Glu726Gly)
c.6965A>G (p.Glu2322Gly)
c.*6707A>G (n.*6707A>G)
n.5399A>G
n.310A>G
c.7076A>G (p.Glu2359Gly)
c.6992A>G (p.Glu2331Gly)
c.6962A>G (p.Glu2321Gly)
c.6914A>G (p.Glu2305Gly)
c.6875A>G (p.Glu2292Gly)
c.6800A>G (p.Glu2267Gly)
n.8671A>G
c.6989A>G (p.Glu2330Gly)
c.6959A>G (p.Glu2320Gly)
c.6911A>G (p.Glu2304Gly)
c.6878A>G (p.Glu2293Gly)
c.6848A>G (p.Glu2283Gly)
c.6845A>G (p.Glu2282Gly)
c.6797A>G (p.Glu2266Gly)
c.6761A>G (p.Glu2254Gly)
c.6758A>G (p.Glu2253Gly)
c.6713A>G (p.Glu2238Gly)
n.7378A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.77520909T>GCA413707460ATRXc.7079A>C (p.Glu2360Ala)
c.2177A>C (p.Glu726Ala)
c.6965A>C (p.Glu2322Ala)
c.*6707A>C (n.*6707A>C)
n.5399A>C
n.310A>C
c.7076A>C (p.Glu2359Ala)
c.6992A>C (p.Glu2331Ala)
c.6962A>C (p.Glu2321Ala)
c.6914A>C (p.Glu2305Ala)
c.6875A>C (p.Glu2292Ala)
c.6800A>C (p.Glu2267Ala)
n.8671A>C
c.6989A>C (p.Glu2330Ala)
c.6959A>C (p.Glu2320Ala)
c.6911A>C (p.Glu2304Ala)
c.6878A>C (p.Glu2293Ala)
c.6848A>C (p.Glu2283Ala)
c.6845A>C (p.Glu2282Ala)
c.6797A>C (p.Glu2266Ala)
c.6761A>C (p.Glu2254Ala)
c.6758A>C (p.Glu2253Ala)
c.6713A>C (p.Glu2238Ala)
n.7378A>C
Xg.77520909T=CA2438933077ATRXc.7079A= (p.Glu2360=)
c.2177A= (p.Glu726=)
c.6965A= (p.Glu2322=)
c.*6707A= (n.*6707A=)
n.5399A=
n.310A=
c.7076A= (p.Glu2359=)
c.6992A= (p.Glu2331=)
c.6962A= (p.Glu2321=)
c.6914A= (p.Glu2305=)
c.6875A= (p.Glu2292=)
c.6800A= (p.Glu2267=)
n.8671A=
c.6989A= (p.Glu2330=)
c.6959A= (p.Glu2320=)
c.6911A= (p.Glu2304=)
c.6878A= (p.Glu2293=)
c.6848A= (p.Glu2283=)
c.6845A= (p.Glu2282=)
c.6797A= (p.Glu2266=)
c.6761A= (p.Glu2254=)
c.6758A= (p.Glu2253=)
c.6713A= (p.Glu2238=)
n.7378A=
Xg.77520910C>ACA413707463ATRXc.7078G>T (p.Glu2360Ter)
c.2176G>T (p.Glu726Ter)
c.6964G>T (p.Glu2322Ter)
c.*6706G>T (n.*6706G>T)
n.5398G>T
n.309G>T
c.7075G>T (p.Glu2359Ter)
c.6991G>T (p.Glu2331Ter)
c.6961G>T (p.Glu2321Ter)
c.6913G>T (p.Glu2305Ter)
c.6874G>T (p.Glu2292Ter)
c.6799G>T (p.Glu2267Ter)
n.8670G>T
c.6988G>T (p.Glu2330Ter)
c.6958G>T (p.Glu2320Ter)
c.6910G>T (p.Glu2304Ter)
c.6877G>T (p.Glu2293Ter)
c.6847G>T (p.Glu2283Ter)
c.6844G>T (p.Glu2282Ter)
c.6796G>T (p.Glu2266Ter)
c.6760G>T (p.Glu2254Ter)
c.6757G>T (p.Glu2253Ter)
c.6712G>T (p.Glu2238Ter)
n.7377G>T
Xg.77520910C=CA2438933078ATRXc.7078G= (p.Glu2360=)
c.2176G= (p.Glu726=)
c.6964G= (p.Glu2322=)
c.*6706G= (n.*6706G=)
n.5398G=
n.309G=
c.7075G= (p.Glu2359=)
c.6991G= (p.Glu2331=)
c.6961G= (p.Glu2321=)
c.6913G= (p.Glu2305=)
c.6874G= (p.Glu2292=)
c.6799G= (p.Glu2267=)
n.8670G=
c.6988G= (p.Glu2330=)
c.6958G= (p.Glu2320=)
c.6910G= (p.Glu2304=)
c.6877G= (p.Glu2293=)
c.6847G= (p.Glu2283=)
c.6844G= (p.Glu2282=)
c.6796G= (p.Glu2266=)
c.6760G= (p.Glu2254=)
c.6757G= (p.Glu2253=)
c.6712G= (p.Glu2238=)
n.7377G=
Xg.77520910C>GCA413707464ATRXc.7078G>C (p.Glu2360Gln)
c.2176G>C (p.Glu726Gln)
c.6964G>C (p.Glu2322Gln)
c.*6706G>C (n.*6706G>C)
n.5398G>C
n.309G>C
c.7075G>C (p.Glu2359Gln)
c.6991G>C (p.Glu2331Gln)
c.6961G>C (p.Glu2321Gln)
c.6913G>C (p.Glu2305Gln)
c.6874G>C (p.Glu2292Gln)
c.6799G>C (p.Glu2267Gln)
n.8670G>C
c.6988G>C (p.Glu2330Gln)
c.6958G>C (p.Glu2320Gln)
c.6910G>C (p.Glu2304Gln)
c.6877G>C (p.Glu2293Gln)
c.6847G>C (p.Glu2283Gln)
c.6844G>C (p.Glu2282Gln)
c.6796G>C (p.Glu2266Gln)
c.6760G>C (p.Glu2254Gln)
c.6757G>C (p.Glu2253Gln)
c.6712G>C (p.Glu2238Gln)
n.7377G>C
Xg.77520910C>TCA413707465ATRXc.7078G>A (p.Glu2360Lys)
c.2176G>A (p.Glu726Lys)
c.6964G>A (p.Glu2322Lys)
c.*6706G>A (n.*6706G>A)
n.5398G>A
n.309G>A
c.7075G>A (p.Glu2359Lys)
c.6991G>A (p.Glu2331Lys)
c.6961G>A (p.Glu2321Lys)
c.6913G>A (p.Glu2305Lys)
c.6874G>A (p.Glu2292Lys)
c.6799G>A (p.Glu2267Lys)
n.8670G>A
c.6988G>A (p.Glu2330Lys)
c.6958G>A (p.Glu2320Lys)
c.6910G>A (p.Glu2304Lys)
c.6877G>A (p.Glu2293Lys)
c.6847G>A (p.Glu2283Lys)
c.6844G>A (p.Glu2282Lys)
c.6796G>A (p.Glu2266Lys)
c.6760G>A (p.Glu2254Lys)
c.6757G>A (p.Glu2253Lys)
c.6712G>A (p.Glu2238Lys)
n.7377G>A
 dbSNP
Xg.77520911C>ACA413707466ATRXc.7077G>T (p.Lys2359Asn)
c.2175G>T (p.Lys725Asn)
c.6963G>T (p.Lys2321Asn)
c.*6705G>T (n.*6705G>T)
n.5397G>T
n.308G>T
c.7074G>T (p.Lys2358Asn)
c.6990G>T (p.Lys2330Asn)
c.6960G>T (p.Lys2320Asn)
c.6912G>T (p.Lys2304Asn)
c.6873G>T (p.Lys2291Asn)
c.6798G>T (p.Lys2266Asn)
n.8669G>T
c.6987G>T (p.Lys2329Asn)
c.6957G>T (p.Lys2319Asn)
c.6909G>T (p.Lys2303Asn)
c.6876G>T (p.Lys2292Asn)
c.6846G>T (p.Lys2282Asn)
c.6843G>T (p.Lys2281Asn)
c.6795G>T (p.Lys2265Asn)
c.6759G>T (p.Lys2253Asn)
c.6756G>T (p.Lys2252Asn)
c.6711G>T (p.Lys2237Asn)
n.7376G>T
Xg.77520911C>GCA413707467ATRXc.7077G>C (p.Lys2359Asn)
c.2175G>C (p.Lys725Asn)
c.6963G>C (p.Lys2321Asn)
c.*6705G>C (n.*6705G>C)
n.5397G>C
n.308G>C
c.7074G>C (p.Lys2358Asn)
c.6990G>C (p.Lys2330Asn)
c.6960G>C (p.Lys2320Asn)
c.6912G>C (p.Lys2304Asn)
c.6873G>C (p.Lys2291Asn)
c.6798G>C (p.Lys2266Asn)
n.8669G>C
c.6987G>C (p.Lys2329Asn)
c.6957G>C (p.Lys2319Asn)
c.6909G>C (p.Lys2303Asn)
c.6876G>C (p.Lys2292Asn)
c.6846G>C (p.Lys2282Asn)
c.6843G>C (p.Lys2281Asn)
c.6795G>C (p.Lys2265Asn)
c.6759G>C (p.Lys2253Asn)
c.6756G>C (p.Lys2252Asn)
c.6711G>C (p.Lys2237Asn)
n.7376G>C
Xg.77520911C>TCA517374433ATRXc.7077G>A (p.Lys2359=)
c.2175G>A (p.Lys725=)
c.6963G>A (p.Lys2321=)
c.*6705G>A (n.*6705G>A)
n.5397G>A
n.308G>A
c.7074G>A (p.Lys2358=)
c.6990G>A (p.Lys2330=)
c.6960G>A (p.Lys2320=)
c.6912G>A (p.Lys2304=)
c.6873G>A (p.Lys2291=)
c.6798G>A (p.Lys2266=)
n.8669G>A
c.6987G>A (p.Lys2329=)
c.6957G>A (p.Lys2319=)
c.6909G>A (p.Lys2303=)
c.6876G>A (p.Lys2292=)
c.6846G>A (p.Lys2282=)
c.6843G>A (p.Lys2281=)
c.6795G>A (p.Lys2265=)
c.6759G>A (p.Lys2253=)
c.6756G>A (p.Lys2252=)
c.6711G>A (p.Lys2237=)
n.7376G>A
Xg.77520912T>ACA413707470ATRXc.7076A>T (p.Lys2359Met)
c.2174A>T (p.Lys725Met)
c.6962A>T (p.Lys2321Met)
c.*6704A>T (n.*6704A>T)
n.5396A>T
n.307A>T
c.7073A>T (p.Lys2358Met)
c.6989A>T (p.Lys2330Met)
c.6959A>T (p.Lys2320Met)
c.6911A>T (p.Lys2304Met)
c.6872A>T (p.Lys2291Met)
c.6797A>T (p.Lys2266Met)
n.8668A>T
c.6986A>T (p.Lys2329Met)
c.6956A>T (p.Lys2319Met)
c.6908A>T (p.Lys2303Met)
c.6875A>T (p.Lys2292Met)
c.6845A>T (p.Lys2282Met)
c.6842A>T (p.Lys2281Met)
c.6794A>T (p.Lys2265Met)
c.6758A>T (p.Lys2253Met)
c.6755A>T (p.Lys2252Met)
c.6710A>T (p.Lys2237Met)
n.7375A>T
 COSMIC COSMIC
Xg.77520912T>CCA413707472ATRXc.7076A>G (p.Lys2359Arg)
c.2174A>G (p.Lys725Arg)
c.6962A>G (p.Lys2321Arg)
c.*6704A>G (n.*6704A>G)
n.5396A>G
n.307A>G
c.7073A>G (p.Lys2358Arg)
c.6989A>G (p.Lys2330Arg)
c.6959A>G (p.Lys2320Arg)
c.6911A>G (p.Lys2304Arg)
c.6872A>G (p.Lys2291Arg)
c.6797A>G (p.Lys2266Arg)
n.8668A>G
c.6986A>G (p.Lys2329Arg)
c.6956A>G (p.Lys2319Arg)
c.6908A>G (p.Lys2303Arg)
c.6875A>G (p.Lys2292Arg)
c.6845A>G (p.Lys2282Arg)
c.6842A>G (p.Lys2281Arg)
c.6794A>G (p.Lys2265Arg)
c.6758A>G (p.Lys2253Arg)
c.6755A>G (p.Lys2252Arg)
c.6710A>G (p.Lys2237Arg)
n.7375A>G
 dbSNP
Xg.77520912T>GCA413707473ATRXc.7076A>C (p.Lys2359Thr)
c.2174A>C (p.Lys725Thr)
c.6962A>C (p.Lys2321Thr)
c.*6704A>C (n.*6704A>C)
n.5396A>C
n.307A>C
c.7073A>C (p.Lys2358Thr)
c.6989A>C (p.Lys2330Thr)
c.6959A>C (p.Lys2320Thr)
c.6911A>C (p.Lys2304Thr)
c.6872A>C (p.Lys2291Thr)
c.6797A>C (p.Lys2266Thr)
n.8668A>C
c.6986A>C (p.Lys2329Thr)
c.6956A>C (p.Lys2319Thr)
c.6908A>C (p.Lys2303Thr)
c.6875A>C (p.Lys2292Thr)
c.6845A>C (p.Lys2282Thr)
c.6842A>C (p.Lys2281Thr)
c.6794A>C (p.Lys2265Thr)
c.6758A>C (p.Lys2253Thr)
c.6755A>C (p.Lys2252Thr)
c.6710A>C (p.Lys2237Thr)
n.7375A>C
Xg.77520912T=CA2438933079ATRXc.7076A= (p.Lys2359=)
c.2174A= (p.Lys725=)
c.6962A= (p.Lys2321=)
c.*6704A= (n.*6704A=)
n.5396A=
n.307A=
c.7073A= (p.Lys2358=)
c.6989A= (p.Lys2330=)
c.6959A= (p.Lys2320=)
c.6911A= (p.Lys2304=)
c.6872A= (p.Lys2291=)
c.6797A= (p.Lys2266=)
n.8668A=
c.6986A= (p.Lys2329=)
c.6956A= (p.Lys2319=)
c.6908A= (p.Lys2303=)
c.6875A= (p.Lys2292=)
c.6845A= (p.Lys2282=)
c.6842A= (p.Lys2281=)
c.6794A= (p.Lys2265=)
c.6758A= (p.Lys2253=)
c.6755A= (p.Lys2252=)
c.6710A= (p.Lys2237=)
n.7375A=
Xg.77520913T>ACA413707480ATRXc.7075A>T (p.Lys2359Ter)
c.2173A>T (p.Lys725Ter)
c.6961A>T (p.Lys2321Ter)
c.*6703A>T (n.*6703A>T)
n.5395A>T
n.306A>T
c.7072A>T (p.Lys2358Ter)
c.6988A>T (p.Lys2330Ter)
c.6958A>T (p.Lys2320Ter)
c.6910A>T (p.Lys2304Ter)
c.6871A>T (p.Lys2291Ter)
c.6796A>T (p.Lys2266Ter)
n.8667A>T
c.6985A>T (p.Lys2329Ter)
c.6955A>T (p.Lys2319Ter)
c.6907A>T (p.Lys2303Ter)
c.6874A>T (p.Lys2292Ter)
c.6844A>T (p.Lys2282Ter)
c.6841A>T (p.Lys2281Ter)
c.6793A>T (p.Lys2265Ter)
c.6757A>T (p.Lys2253Ter)
c.6754A>T (p.Lys2252Ter)
c.6709A>T (p.Lys2237Ter)
n.7374A>T
Xg.77520913T>CCA413707478ATRXc.7075A>G (p.Lys2359Glu)
c.2173A>G (p.Lys725Glu)
c.6961A>G (p.Lys2321Glu)
c.*6703A>G (n.*6703A>G)
n.5395A>G
n.306A>G
c.7072A>G (p.Lys2358Glu)
c.6988A>G (p.Lys2330Glu)
c.6958A>G (p.Lys2320Glu)
c.6910A>G (p.Lys2304Glu)
c.6871A>G (p.Lys2291Glu)
c.6796A>G (p.Lys2266Glu)
n.8667A>G
c.6985A>G (p.Lys2329Glu)
c.6955A>G (p.Lys2319Glu)
c.6907A>G (p.Lys2303Glu)
c.6874A>G (p.Lys2292Glu)
c.6844A>G (p.Lys2282Glu)
c.6841A>G (p.Lys2281Glu)
c.6793A>G (p.Lys2265Glu)
c.6757A>G (p.Lys2253Glu)
c.6754A>G (p.Lys2252Glu)
c.6709A>G (p.Lys2237Glu)
n.7374A>G
 gnomAD v4
Xg.77520913T>GCA413707476ATRXc.7075A>C (p.Lys2359Gln)
c.2173A>C (p.Lys725Gln)
c.6961A>C (p.Lys2321Gln)
c.*6703A>C (n.*6703A>C)
n.5395A>C
n.306A>C
c.7072A>C (p.Lys2358Gln)
c.6988A>C (p.Lys2330Gln)
c.6958A>C (p.Lys2320Gln)
c.6910A>C (p.Lys2304Gln)
c.6871A>C (p.Lys2291Gln)
c.6796A>C (p.Lys2266Gln)
n.8667A>C
c.6985A>C (p.Lys2329Gln)
c.6955A>C (p.Lys2319Gln)
c.6907A>C (p.Lys2303Gln)
c.6874A>C (p.Lys2292Gln)
c.6844A>C (p.Lys2282Gln)
c.6841A>C (p.Lys2281Gln)
c.6793A>C (p.Lys2265Gln)
c.6757A>C (p.Lys2253Gln)
c.6754A>C (p.Lys2252Gln)
c.6709A>C (p.Lys2237Gln)
n.7374A>C
Xg.77520914C>ACA413707481ATRXc.7074G>T (p.Trp2358Cys)
c.2172G>T (p.Trp724Cys)
c.6960G>T (p.Trp2320Cys)
c.*6702G>T (n.*6702G>T)
n.5394G>T
n.305G>T
c.7071G>T (p.Trp2357Cys)
c.6987G>T (p.Trp2329Cys)
c.6957G>T (p.Trp2319Cys)
c.6909G>T (p.Trp2303Cys)
c.6870G>T (p.Trp2290Cys)
c.6795G>T (p.Trp2265Cys)
n.8666G>T
c.6984G>T (p.Trp2328Cys)
c.6954G>T (p.Trp2318Cys)
c.6906G>T (p.Trp2302Cys)
c.6873G>T (p.Trp2291Cys)
c.6843G>T (p.Trp2281Cys)
c.6840G>T (p.Trp2280Cys)
c.6792G>T (p.Trp2264Cys)
c.6756G>T (p.Trp2252Cys)
c.6753G>T (p.Trp2251Cys)
c.6708G>T (p.Trp2236Cys)
n.7373G>T
 dbSNP
Xg.77520914C>GCA413707483ATRXc.7074G>C (p.Trp2358Cys)
c.2172G>C (p.Trp724Cys)
c.6960G>C (p.Trp2320Cys)
c.*6702G>C (n.*6702G>C)
n.5394G>C
n.305G>C
c.7071G>C (p.Trp2357Cys)
c.6987G>C (p.Trp2329Cys)
c.6957G>C (p.Trp2319Cys)
c.6909G>C (p.Trp2303Cys)
c.6870G>C (p.Trp2290Cys)
c.6795G>C (p.Trp2265Cys)
n.8666G>C
c.6984G>C (p.Trp2328Cys)
c.6954G>C (p.Trp2318Cys)
c.6906G>C (p.Trp2302Cys)
c.6873G>C (p.Trp2291Cys)
c.6843G>C (p.Trp2281Cys)
c.6840G>C (p.Trp2280Cys)
c.6792G>C (p.Trp2264Cys)
c.6756G>C (p.Trp2252Cys)
c.6753G>C (p.Trp2251Cys)
c.6708G>C (p.Trp2236Cys)
n.7373G>C
Xg.77520914C>TCA413707484ATRXc.7074G>A (p.Trp2358Ter)
c.2172G>A (p.Trp724Ter)
c.6960G>A (p.Trp2320Ter)
c.*6702G>A (n.*6702G>A)
n.5394G>A
n.305G>A
c.7071G>A (p.Trp2357Ter)
c.6987G>A (p.Trp2329Ter)
c.6957G>A (p.Trp2319Ter)
c.6909G>A (p.Trp2303Ter)
c.6870G>A (p.Trp2290Ter)
c.6795G>A (p.Trp2265Ter)
n.8666G>A
c.6984G>A (p.Trp2328Ter)
c.6954G>A (p.Trp2318Ter)
c.6906G>A (p.Trp2302Ter)
c.6873G>A (p.Trp2291Ter)
c.6843G>A (p.Trp2281Ter)
c.6840G>A (p.Trp2280Ter)
c.6792G>A (p.Trp2264Ter)
c.6756G>A (p.Trp2252Ter)
c.6753G>A (p.Trp2251Ter)
c.6708G>A (p.Trp2236Ter)
n.7373G>A
Xg.77520915delCA2579648667ATRXc.7074del (p.Trp2358Ter)
c.2172del (p.Trp724Ter)
c.6960del (p.Trp2320Ter)
c.*6702del (n.*6702del)
n.5394del
n.305del
c.7071del (p.Trp2357Ter)
c.6987del (p.Trp2329Ter)
c.6957del (p.Trp2319Ter)
c.6909del (p.Trp2303Ter)
c.6870del (p.Trp2290Ter)
c.6795del (p.Trp2265Ter)
n.8666del
c.6984del (p.Trp2328Ter)
c.6954del (p.Trp2318Ter)
c.6906del (p.Trp2302Ter)
c.6873del (p.Trp2291Ter)
c.6843del (p.Trp2281Ter)
c.6840del (p.Trp2280Ter)
c.6792del (p.Trp2264Ter)
c.6756del (p.Trp2252Ter)
c.6753del (p.Trp2251Ter)
c.6708del (p.Trp2236Ter)
n.7373del
Xg.77520915C>ACA413707486ATRXc.7073G>T (p.Trp2358Leu)
c.2171G>T (p.Trp724Leu)
c.6959G>T (p.Trp2320Leu)
c.*6701G>T (n.*6701G>T)
n.5393G>T
n.304G>T
c.7070G>T (p.Trp2357Leu)
c.6986G>T (p.Trp2329Leu)
c.6956G>T (p.Trp2319Leu)
c.6908G>T (p.Trp2303Leu)
c.6869G>T (p.Trp2290Leu)
c.6794G>T (p.Trp2265Leu)
n.8665G>T
c.6983G>T (p.Trp2328Leu)
c.6953G>T (p.Trp2318Leu)
c.6905G>T (p.Trp2302Leu)
c.6872G>T (p.Trp2291Leu)
c.6842G>T (p.Trp2281Leu)
c.6839G>T (p.Trp2280Leu)
c.6791G>T (p.Trp2264Leu)
c.6755G>T (p.Trp2252Leu)
c.6752G>T (p.Trp2251Leu)
c.6707G>T (p.Trp2236Leu)
n.7372G>T
Xg.77520915C=CA2438933080ATRXc.7073G= (p.Trp2358=)
c.2171G= (p.Trp724=)
c.6959G= (p.Trp2320=)
c.*6701G= (n.*6701G=)
n.5393G=
n.304G=
c.7070G= (p.Trp2357=)
c.6986G= (p.Trp2329=)
c.6956G= (p.Trp2319=)
c.6908G= (p.Trp2303=)
c.6869G= (p.Trp2290=)
c.6794G= (p.Trp2265=)
n.8665G=
c.6983G= (p.Trp2328=)
c.6953G= (p.Trp2318=)
c.6905G= (p.Trp2302=)
c.6872G= (p.Trp2291=)
c.6842G= (p.Trp2281=)
c.6839G= (p.Trp2280=)
c.6791G= (p.Trp2264=)
c.6755G= (p.Trp2252=)
c.6752G= (p.Trp2251=)
c.6707G= (p.Trp2236=)
n.7372G=
Xg.77520915C>GCA413707488ATRXc.7073G>C (p.Trp2358Ser)
c.2171G>C (p.Trp724Ser)
c.6959G>C (p.Trp2320Ser)
c.*6701G>C (n.*6701G>C)
n.5393G>C
n.304G>C
c.7070G>C (p.Trp2357Ser)
c.6986G>C (p.Trp2329Ser)
c.6956G>C (p.Trp2319Ser)
c.6908G>C (p.Trp2303Ser)
c.6869G>C (p.Trp2290Ser)
c.6794G>C (p.Trp2265Ser)
n.8665G>C
c.6983G>C (p.Trp2328Ser)
c.6953G>C (p.Trp2318Ser)
c.6905G>C (p.Trp2302Ser)
c.6872G>C (p.Trp2291Ser)
c.6842G>C (p.Trp2281Ser)
c.6839G>C (p.Trp2280Ser)
c.6791G>C (p.Trp2264Ser)
c.6755G>C (p.Trp2252Ser)
c.6752G>C (p.Trp2251Ser)
c.6707G>C (p.Trp2236Ser)
n.7372G>C
 dbSNP
Xg.77520915C>TCA413707489ATRXc.7073G>A (p.Trp2358Ter)
c.2171G>A (p.Trp724Ter)
c.6959G>A (p.Trp2320Ter)
c.*6701G>A (n.*6701G>A)
n.5393G>A
n.304G>A
c.7070G>A (p.Trp2357Ter)
c.6986G>A (p.Trp2329Ter)
c.6956G>A (p.Trp2319Ter)
c.6908G>A (p.Trp2303Ter)
c.6869G>A (p.Trp2290Ter)
c.6794G>A (p.Trp2265Ter)
n.8665G>A
c.6983G>A (p.Trp2328Ter)
c.6953G>A (p.Trp2318Ter)
c.6905G>A (p.Trp2302Ter)
c.6872G>A (p.Trp2291Ter)
c.6842G>A (p.Trp2281Ter)
c.6839G>A (p.Trp2280Ter)
c.6791G>A (p.Trp2264Ter)
c.6755G>A (p.Trp2252Ter)
c.6752G>A (p.Trp2251Ter)
c.6707G>A (p.Trp2236Ter)
n.7372G>A
Xg.77520916A>CCA413707491ATRXc.7072T>G (p.Trp2358Gly)
c.2170T>G (p.Trp724Gly)
c.6958T>G (p.Trp2320Gly)
c.*6700T>G (n.*6700T>G)
n.5392T>G
n.303T>G
c.7069T>G (p.Trp2357Gly)
c.6985T>G (p.Trp2329Gly)
c.6955T>G (p.Trp2319Gly)
c.6907T>G (p.Trp2303Gly)
c.6868T>G (p.Trp2290Gly)
c.6793T>G (p.Trp2265Gly)
n.8664T>G
c.6982T>G (p.Trp2328Gly)
c.6952T>G (p.Trp2318Gly)
c.6904T>G (p.Trp2302Gly)
c.6871T>G (p.Trp2291Gly)
c.6841T>G (p.Trp2281Gly)
c.6838T>G (p.Trp2280Gly)
c.6790T>G (p.Trp2264Gly)
c.6754T>G (p.Trp2252Gly)
c.6751T>G (p.Trp2251Gly)
c.6706T>G (p.Trp2236Gly)
n.7371T>G
Xg.77520916A>GCA413707493ATRXc.7072T>C (p.Trp2358Arg)
c.2170T>C (p.Trp724Arg)
c.6958T>C (p.Trp2320Arg)
c.*6700T>C (n.*6700T>C)
n.5392T>C
n.303T>C
c.7069T>C (p.Trp2357Arg)
c.6985T>C (p.Trp2329Arg)
c.6955T>C (p.Trp2319Arg)
c.6907T>C (p.Trp2303Arg)
c.6868T>C (p.Trp2290Arg)
c.6793T>C (p.Trp2265Arg)
n.8664T>C
c.6982T>C (p.Trp2328Arg)
c.6952T>C (p.Trp2318Arg)
c.6904T>C (p.Trp2302Arg)
c.6871T>C (p.Trp2291Arg)
c.6841T>C (p.Trp2281Arg)
c.6838T>C (p.Trp2280Arg)
c.6790T>C (p.Trp2264Arg)
c.6754T>C (p.Trp2252Arg)
c.6751T>C (p.Trp2251Arg)
c.6706T>C (p.Trp2236Arg)
n.7371T>C
Xg.77520916A>TCA413707494ATRXc.7072T>A (p.Trp2358Arg)
c.2170T>A (p.Trp724Arg)
c.6958T>A (p.Trp2320Arg)
c.*6700T>A (n.*6700T>A)
n.5392T>A
n.303T>A
c.7069T>A (p.Trp2357Arg)
c.6985T>A (p.Trp2329Arg)
c.6955T>A (p.Trp2319Arg)
c.6907T>A (p.Trp2303Arg)
c.6868T>A (p.Trp2290Arg)
c.6793T>A (p.Trp2265Arg)
n.8664T>A
c.6982T>A (p.Trp2328Arg)
c.6952T>A (p.Trp2318Arg)
c.6904T>A (p.Trp2302Arg)
c.6871T>A (p.Trp2291Arg)
c.6841T>A (p.Trp2281Arg)
c.6838T>A (p.Trp2280Arg)
c.6790T>A (p.Trp2264Arg)
c.6754T>A (p.Trp2252Arg)
c.6751T>A (p.Trp2251Arg)
c.6706T>A (p.Trp2236Arg)
n.7371T>A
Xg.77520916_77520917insTACAGCA2738722241ATRXc.7072-1_7072insCTGTA (n.7072-1_7072insCTGTA)
c.2170-1_2170insCTGTA (n.2170-1_2170insCTGTA)
c.6958-1_6958insCTGTA (n.6958-1_6958insCTGTA)
c.*6700-1_*6700insCTGTA (n.*6700-1_*6700insCTGTA)
n.5391_5392insCTGTA
n.303-1_303insCTGTA
c.7069-1_7069insCTGTA (n.7069-1_7069insCTGTA)
c.6985-1_6985insCTGTA (n.6985-1_6985insCTGTA)
c.6955-1_6955insCTGTA (n.6955-1_6955insCTGTA)
c.6907-1_6907insCTGTA (n.6907-1_6907insCTGTA)
c.6868-1_6868insCTGTA (n.6868-1_6868insCTGTA)
c.6793-1_6793insCTGTA (n.6793-1_6793insCTGTA)
n.8663_8664insCTGTA
c.6982-1_6982insCTGTA (n.6982-1_6982insCTGTA)
c.6952-1_6952insCTGTA (n.6952-1_6952insCTGTA)
c.6904-1_6904insCTGTA (n.6904-1_6904insCTGTA)
c.6871-1_6871insCTGTA (n.6871-1_6871insCTGTA)
c.6841-1_6841insCTGTA (n.6841-1_6841insCTGTA)
c.6838-1_6838insCTGTA (n.6838-1_6838insCTGTA)
c.6790-1_6790insCTGTA (n.6790-1_6790insCTGTA)
c.6754-1_6754insCTGTA (n.6754-1_6754insCTGTA)
c.6751-1_6751insCTGTA (n.6751-1_6751insCTGTA)
c.6706-1_6706insCTGTA (n.6706-1_6706insCTGTA)
n.7371-1_7371insCTGTA
 dbSNP
Xg.77520917C>ACA413707496ATRXc.7072-1G>T (n.7072-1G>T)
c.2170-1G>T (n.2170-1G>T)
c.6958-1G>T (n.6958-1G>T)
c.*6700-1G>T (n.*6700-1G>T)
n.5391G>T
n.303-1G>T
c.7069-1G>T (n.7069-1G>T)
c.6985-1G>T (n.6985-1G>T)
c.6955-1G>T (n.6955-1G>T)
c.6907-1G>T (n.6907-1G>T)
c.6868-1G>T (n.6868-1G>T)
c.6793-1G>T (n.6793-1G>T)
n.8663G>T
c.6982-1G>T (n.6982-1G>T)
c.6952-1G>T (n.6952-1G>T)
c.6904-1G>T (n.6904-1G>T)
c.6871-1G>T (n.6871-1G>T)
c.6841-1G>T (n.6841-1G>T)
c.6838-1G>T (n.6838-1G>T)
c.6790-1G>T (n.6790-1G>T)
c.6754-1G>T (n.6754-1G>T)
c.6751-1G>T (n.6751-1G>T)
c.6706-1G>T (n.6706-1G>T)
n.7371-1G>T
 COSMIC COSMIC
Xg.77520917C>GCA413707498ATRXc.7072-1G>C (n.7072-1G>C)
c.2170-1G>C (n.2170-1G>C)
c.6958-1G>C (n.6958-1G>C)
c.*6700-1G>C (n.*6700-1G>C)
n.5391G>C
n.303-1G>C
c.7069-1G>C (n.7069-1G>C)
c.6985-1G>C (n.6985-1G>C)
c.6955-1G>C (n.6955-1G>C)
c.6907-1G>C (n.6907-1G>C)
c.6868-1G>C (n.6868-1G>C)
c.6793-1G>C (n.6793-1G>C)
n.8663G>C
c.6982-1G>C (n.6982-1G>C)
c.6952-1G>C (n.6952-1G>C)
c.6904-1G>C (n.6904-1G>C)
c.6871-1G>C (n.6871-1G>C)
c.6841-1G>C (n.6841-1G>C)
c.6838-1G>C (n.6838-1G>C)
c.6790-1G>C (n.6790-1G>C)
c.6754-1G>C (n.6754-1G>C)
c.6751-1G>C (n.6751-1G>C)
c.6706-1G>C (n.6706-1G>C)
n.7371-1G>C
Xg.77520917C>TCA413707499ATRXc.7072-1G>A (n.7072-1G>A)
c.2170-1G>A (n.2170-1G>A)
c.6958-1G>A (n.6958-1G>A)
c.*6700-1G>A (n.*6700-1G>A)
n.5391G>A
n.303-1G>A
c.7069-1G>A (n.7069-1G>A)
c.6985-1G>A (n.6985-1G>A)
c.6955-1G>A (n.6955-1G>A)
c.6907-1G>A (n.6907-1G>A)
c.6868-1G>A (n.6868-1G>A)
c.6793-1G>A (n.6793-1G>A)
n.8663G>A
c.6982-1G>A (n.6982-1G>A)
c.6952-1G>A (n.6952-1G>A)
c.6904-1G>A (n.6904-1G>A)
c.6871-1G>A (n.6871-1G>A)
c.6841-1G>A (n.6841-1G>A)
c.6838-1G>A (n.6838-1G>A)
c.6790-1G>A (n.6790-1G>A)
c.6754-1G>A (n.6754-1G>A)
c.6751-1G>A (n.6751-1G>A)
c.6706-1G>A (n.6706-1G>A)
n.7371-1G>A
Xg.77520918T>ACA413707504ATRXc.7072-2A>T (n.7072-2A>T)
c.2170-2A>T (n.2170-2A>T)
c.6958-2A>T (n.6958-2A>T)
c.*6700-2A>T (n.*6700-2A>T)
n.5390A>T
n.303-2A>T
c.7069-2A>T (n.7069-2A>T)
c.6985-2A>T (n.6985-2A>T)
c.6955-2A>T (n.6955-2A>T)
c.6907-2A>T (n.6907-2A>T)
c.6868-2A>T (n.6868-2A>T)
c.6793-2A>T (n.6793-2A>T)
n.8662A>T
c.6982-2A>T (n.6982-2A>T)
c.6952-2A>T (n.6952-2A>T)
c.6904-2A>T (n.6904-2A>T)
c.6871-2A>T (n.6871-2A>T)
c.6841-2A>T (n.6841-2A>T)
c.6838-2A>T (n.6838-2A>T)
c.6790-2A>T (n.6790-2A>T)
c.6754-2A>T (n.6754-2A>T)
c.6751-2A>T (n.6751-2A>T)
c.6706-2A>T (n.6706-2A>T)
n.7371-2A>T
Xg.77520918T>CCA413707505ATRXc.7072-2A>G (n.7072-2A>G)
c.2170-2A>G (n.2170-2A>G)
c.6958-2A>G (n.6958-2A>G)
c.*6700-2A>G (n.*6700-2A>G)
n.5390A>G
n.303-2A>G
c.7069-2A>G (n.7069-2A>G)
c.6985-2A>G (n.6985-2A>G)
c.6955-2A>G (n.6955-2A>G)
c.6907-2A>G (n.6907-2A>G)
c.6868-2A>G (n.6868-2A>G)
c.6793-2A>G (n.6793-2A>G)
n.8662A>G
c.6982-2A>G (n.6982-2A>G)
c.6952-2A>G (n.6952-2A>G)
c.6904-2A>G (n.6904-2A>G)
c.6871-2A>G (n.6871-2A>G)
c.6841-2A>G (n.6841-2A>G)
c.6838-2A>G (n.6838-2A>G)
c.6790-2A>G (n.6790-2A>G)
c.6754-2A>G (n.6754-2A>G)
c.6751-2A>G (n.6751-2A>G)
c.6706-2A>G (n.6706-2A>G)
n.7371-2A>G
 gnomAD v4
Xg.77520918T>GCA413707501ATRXc.7072-2A>C (n.7072-2A>C)
c.2170-2A>C (n.2170-2A>C)
c.6958-2A>C (n.6958-2A>C)
c.*6700-2A>C (n.*6700-2A>C)
n.5390A>C
n.303-2A>C
c.7069-2A>C (n.7069-2A>C)
c.6985-2A>C (n.6985-2A>C)
c.6955-2A>C (n.6955-2A>C)
c.6907-2A>C (n.6907-2A>C)
c.6868-2A>C (n.6868-2A>C)
c.6793-2A>C (n.6793-2A>C)
n.8662A>C
c.6982-2A>C (n.6982-2A>C)
c.6952-2A>C (n.6952-2A>C)
c.6904-2A>C (n.6904-2A>C)
c.6871-2A>C (n.6871-2A>C)
c.6841-2A>C (n.6841-2A>C)
c.6838-2A>C (n.6838-2A>C)
c.6790-2A>C (n.6790-2A>C)
c.6754-2A>C (n.6754-2A>C)
c.6751-2A>C (n.6751-2A>C)
c.6706-2A>C (n.6706-2A>C)
n.7371-2A>C
Xg.77520919A=CA2438933081ATRXc.7072-3T= (n.7072-3T=)
c.2170-3T= (n.2170-3T=)
c.6958-3T= (n.6958-3T=)
c.*6700-3T= (n.*6700-3T=)
n.5389T=
n.303-3T=
c.7069-3T= (n.7069-3T=)
c.6985-3T= (n.6985-3T=)
c.6955-3T= (n.6955-3T=)
c.6907-3T= (n.6907-3T=)
c.6868-3T= (n.6868-3T=)
c.6793-3T= (n.6793-3T=)
n.8661T=
c.6982-3T= (n.6982-3T=)
c.6952-3T= (n.6952-3T=)
c.6904-3T= (n.6904-3T=)
c.6871-3T= (n.6871-3T=)
c.6841-3T= (n.6841-3T=)
c.6838-3T= (n.6838-3T=)
c.6790-3T= (n.6790-3T=)
c.6754-3T= (n.6754-3T=)
c.6751-3T= (n.6751-3T=)
c.6706-3T= (n.6706-3T=)
n.7371-3T=
Xg.77520919A>CCA2573159521ATRXc.7072-3T>G (n.7072-3T>G)
c.2170-3T>G (n.2170-3T>G)
c.6958-3T>G (n.6958-3T>G)
c.*6700-3T>G (n.*6700-3T>G)
n.5389T>G
n.303-3T>G
c.7069-3T>G (n.7069-3T>G)
c.6985-3T>G (n.6985-3T>G)
c.6955-3T>G (n.6955-3T>G)
c.6907-3T>G (n.6907-3T>G)
c.6868-3T>G (n.6868-3T>G)
c.6793-3T>G (n.6793-3T>G)
n.8661T>G
c.6982-3T>G (n.6982-3T>G)
c.6952-3T>G (n.6952-3T>G)
c.6904-3T>G (n.6904-3T>G)
c.6871-3T>G (n.6871-3T>G)
c.6841-3T>G (n.6841-3T>G)
c.6838-3T>G (n.6838-3T>G)
c.6790-3T>G (n.6790-3T>G)
c.6754-3T>G (n.6754-3T>G)
c.6751-3T>G (n.6751-3T>G)
c.6706-3T>G (n.6706-3T>G)
n.7371-3T>G
 ClinVar dbSNP
Xg.77520919A>GCA10457424ATRXc.7072-3T>C (n.7072-3T>C)
c.2170-3T>C (n.2170-3T>C)
c.6958-3T>C (n.6958-3T>C)
c.*6700-3T>C (n.*6700-3T>C)
n.5389T>C
n.303-3T>C
c.7069-3T>C (n.7069-3T>C)
c.6985-3T>C (n.6985-3T>C)
c.6955-3T>C (n.6955-3T>C)
c.6907-3T>C (n.6907-3T>C)
c.6868-3T>C (n.6868-3T>C)
c.6793-3T>C (n.6793-3T>C)
n.8661T>C
c.6982-3T>C (n.6982-3T>C)
c.6952-3T>C (n.6952-3T>C)
c.6904-3T>C (n.6904-3T>C)
c.6871-3T>C (n.6871-3T>C)
c.6841-3T>C (n.6841-3T>C)
c.6838-3T>C (n.6838-3T>C)
c.6790-3T>C (n.6790-3T>C)
c.6754-3T>C (n.6754-3T>C)
c.6751-3T>C (n.6751-3T>C)
c.6706-3T>C (n.6706-3T>C)
n.7371-3T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77520919_77520922delCA2738722287ATRXc.7072-6_7072-3del (n.7072-6_7072-3del)
c.2170-6_2170-3del (n.2170-6_2170-3del)
c.6958-6_6958-3del (n.6958-6_6958-3del)
c.*6700-6_*6700-3del (n.*6700-6_*6700-3del)
n.5386_5389del
n.303-6_303-3del
c.7069-6_7069-3del (n.7069-6_7069-3del)
c.6985-6_6985-3del (n.6985-6_6985-3del)
c.6955-6_6955-3del (n.6955-6_6955-3del)
c.6907-6_6907-3del (n.6907-6_6907-3del)
c.6868-6_6868-3del (n.6868-6_6868-3del)
c.6793-6_6793-3del (n.6793-6_6793-3del)
n.8658_8661del
c.6982-6_6982-3del (n.6982-6_6982-3del)
c.6952-6_6952-3del (n.6952-6_6952-3del)
c.6904-6_6904-3del (n.6904-6_6904-3del)
c.6871-6_6871-3del (n.6871-6_6871-3del)
c.6841-6_6841-3del (n.6841-6_6841-3del)
c.6838-6_6838-3del (n.6838-6_6838-3del)
c.6790-6_6790-3del (n.6790-6_6790-3del)
c.6754-6_6754-3del (n.6754-6_6754-3del)
c.6751-6_6751-3del (n.6751-6_6751-3del)
c.6706-6_6706-3del (n.6706-6_6706-3del)
n.7371-6_7371-3del
 dbSNP
Xg.77520922delCA2579648668ATRXc.7072-3del (n.7072-3del)
c.2170-3del (n.2170-3del)
c.6958-3del (n.6958-3del)
c.*6700-3del (n.*6700-3del)
n.5389del
n.303-3del
c.7069-3del (n.7069-3del)
c.6985-3del (n.6985-3del)
c.6955-3del (n.6955-3del)
c.6907-3del (n.6907-3del)
c.6868-3del (n.6868-3del)
c.6793-3del (n.6793-3del)
n.8661del
c.6982-3del (n.6982-3del)
c.6952-3del (n.6952-3del)
c.6904-3del (n.6904-3del)
c.6871-3del (n.6871-3del)
c.6841-3del (n.6841-3del)
c.6838-3del (n.6838-3del)
c.6790-3del (n.6790-3del)
c.6754-3del (n.6754-3del)
c.6751-3del (n.6751-3del)
c.6706-3del (n.6706-3del)
n.7371-3del
Xg.77520920A=CA2438933082ATRXc.7072-4T= (n.7072-4T=)
c.2170-4T= (n.2170-4T=)
c.6958-4T= (n.6958-4T=)
c.*6700-4T= (n.*6700-4T=)
n.5388T=
n.303-4T=
c.7069-4T= (n.7069-4T=)
c.6985-4T= (n.6985-4T=)
c.6955-4T= (n.6955-4T=)
c.6907-4T= (n.6907-4T=)
c.6868-4T= (n.6868-4T=)
c.6793-4T= (n.6793-4T=)
n.8660T=
c.6982-4T= (n.6982-4T=)
c.6952-4T= (n.6952-4T=)
c.6904-4T= (n.6904-4T=)
c.6871-4T= (n.6871-4T=)
c.6841-4T= (n.6841-4T=)
c.6838-4T= (n.6838-4T=)
c.6790-4T= (n.6790-4T=)
c.6754-4T= (n.6754-4T=)
c.6751-4T= (n.6751-4T=)
c.6706-4T= (n.6706-4T=)
n.7371-4T=
Xg.77520920A>CCA645602247ATRXc.7072-4T>G (n.7072-4T>G)
c.2170-4T>G (n.2170-4T>G)
c.6958-4T>G (n.6958-4T>G)
c.*6700-4T>G (n.*6700-4T>G)
n.5388T>G
n.303-4T>G
c.7069-4T>G (n.7069-4T>G)
c.6985-4T>G (n.6985-4T>G)
c.6955-4T>G (n.6955-4T>G)
c.6907-4T>G (n.6907-4T>G)
c.6868-4T>G (n.6868-4T>G)
c.6793-4T>G (n.6793-4T>G)
n.8660T>G
c.6982-4T>G (n.6982-4T>G)
c.6952-4T>G (n.6952-4T>G)
c.6904-4T>G (n.6904-4T>G)
c.6871-4T>G (n.6871-4T>G)
c.6841-4T>G (n.6841-4T>G)
c.6838-4T>G (n.6838-4T>G)
c.6790-4T>G (n.6790-4T>G)
c.6754-4T>G (n.6754-4T>G)
c.6751-4T>G (n.6751-4T>G)
c.6706-4T>G (n.6706-4T>G)
n.7371-4T>G
 ClinVar COSMIC COSMIC
Xg.77520920A>GCA10457425ATRXc.7072-4T>C (n.7072-4T>C)
c.2170-4T>C (n.2170-4T>C)
c.6958-4T>C (n.6958-4T>C)
c.*6700-4T>C (n.*6700-4T>C)
n.5388T>C
n.303-4T>C
c.7069-4T>C (n.7069-4T>C)
c.6985-4T>C (n.6985-4T>C)
c.6955-4T>C (n.6955-4T>C)
c.6907-4T>C (n.6907-4T>C)
c.6868-4T>C (n.6868-4T>C)
c.6793-4T>C (n.6793-4T>C)
n.8660T>C
c.6982-4T>C (n.6982-4T>C)
c.6952-4T>C (n.6952-4T>C)
c.6904-4T>C (n.6904-4T>C)
c.6871-4T>C (n.6871-4T>C)
c.6841-4T>C (n.6841-4T>C)
c.6838-4T>C (n.6838-4T>C)
c.6790-4T>C (n.6790-4T>C)
c.6754-4T>C (n.6754-4T>C)
c.6751-4T>C (n.6751-4T>C)
c.6706-4T>C (n.6706-4T>C)
n.7371-4T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77520921A>TCA2694139334ATRXc.7072-5T>A (n.7072-5T>A)
c.2170-5T>A (n.2170-5T>A)
c.6958-5T>A (n.6958-5T>A)
c.*6700-5T>A (n.*6700-5T>A)
n.5387T>A
n.303-5T>A
c.7069-5T>A (n.7069-5T>A)
c.6985-5T>A (n.6985-5T>A)
c.6955-5T>A (n.6955-5T>A)
c.6907-5T>A (n.6907-5T>A)
c.6868-5T>A (n.6868-5T>A)
c.6793-5T>A (n.6793-5T>A)
n.8659T>A
c.6982-5T>A (n.6982-5T>A)
c.6952-5T>A (n.6952-5T>A)
c.6904-5T>A (n.6904-5T>A)
c.6871-5T>A (n.6871-5T>A)
c.6841-5T>A (n.6841-5T>A)
c.6838-5T>A (n.6838-5T>A)
c.6790-5T>A (n.6790-5T>A)
c.6754-5T>A (n.6754-5T>A)
c.6751-5T>A (n.6751-5T>A)
c.6706-5T>A (n.6706-5T>A)
n.7371-5T>A
 gnomAD v4
Xg.77520923G>CCA2738533370ATRXc.7072-7C>G (n.7072-7C>G)
c.2170-7C>G (n.2170-7C>G)
c.6958-7C>G (n.6958-7C>G)
c.*6700-7C>G (n.*6700-7C>G)
n.5385C>G
n.303-7C>G
c.7069-7C>G (n.7069-7C>G)
c.6985-7C>G (n.6985-7C>G)
c.6955-7C>G (n.6955-7C>G)
c.6907-7C>G (n.6907-7C>G)
c.6868-7C>G (n.6868-7C>G)
c.6793-7C>G (n.6793-7C>G)
n.8657C>G
c.6982-7C>G (n.6982-7C>G)
c.6952-7C>G (n.6952-7C>G)
c.6904-7C>G (n.6904-7C>G)
c.6871-7C>G (n.6871-7C>G)
c.6841-7C>G (n.6841-7C>G)
c.6838-7C>G (n.6838-7C>G)
c.6790-7C>G (n.6790-7C>G)
c.6754-7C>G (n.6754-7C>G)
c.6751-7C>G (n.6751-7C>G)
c.6706-7C>G (n.6706-7C>G)
n.7371-7C>G
 dbSNP
Xg.77520923G=CA2438933083ATRXc.7072-7C= (n.7072-7C=)
c.2170-7C= (n.2170-7C=)
c.6958-7C= (n.6958-7C=)
c.*6700-7C= (n.*6700-7C=)
n.5385C=
n.303-7C=
c.7069-7C= (n.7069-7C=)
c.6985-7C= (n.6985-7C=)
c.6955-7C= (n.6955-7C=)
c.6907-7C= (n.6907-7C=)
c.6868-7C= (n.6868-7C=)
c.6793-7C= (n.6793-7C=)
n.8657C=
c.6982-7C= (n.6982-7C=)
c.6952-7C= (n.6952-7C=)
c.6904-7C= (n.6904-7C=)
c.6871-7C= (n.6871-7C=)
c.6841-7C= (n.6841-7C=)
c.6838-7C= (n.6838-7C=)
c.6790-7C= (n.6790-7C=)
c.6754-7C= (n.6754-7C=)
c.6751-7C= (n.6751-7C=)
c.6706-7C= (n.6706-7C=)
n.7371-7C=
Xg.77520923G>TCA10457426ATRXc.7072-7C>A (n.7072-7C>A)
c.2170-7C>A (n.2170-7C>A)
c.6958-7C>A (n.6958-7C>A)
c.*6700-7C>A (n.*6700-7C>A)
n.5385C>A
n.303-7C>A
c.7069-7C>A (n.7069-7C>A)
c.6985-7C>A (n.6985-7C>A)
c.6955-7C>A (n.6955-7C>A)
c.6907-7C>A (n.6907-7C>A)
c.6868-7C>A (n.6868-7C>A)
c.6793-7C>A (n.6793-7C>A)
n.8657C>A
c.6982-7C>A (n.6982-7C>A)
c.6952-7C>A (n.6952-7C>A)
c.6904-7C>A (n.6904-7C>A)
c.6871-7C>A (n.6871-7C>A)
c.6841-7C>A (n.6841-7C>A)
c.6838-7C>A (n.6838-7C>A)
c.6790-7C>A (n.6790-7C>A)
c.6754-7C>A (n.6754-7C>A)
c.6751-7C>A (n.6751-7C>A)
c.6706-7C>A (n.6706-7C>A)
n.7371-7C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77520924A=CA2438933084ATRXc.7072-8T= (n.7072-8T=)
c.2170-8T= (n.2170-8T=)
c.6958-8T= (n.6958-8T=)
c.*6700-8T= (n.*6700-8T=)
n.5384T=
n.303-8T=
c.7069-8T= (n.7069-8T=)
c.6985-8T= (n.6985-8T=)
c.6955-8T= (n.6955-8T=)
c.6907-8T= (n.6907-8T=)
c.6868-8T= (n.6868-8T=)
c.6793-8T= (n.6793-8T=)
n.8656T=
c.6982-8T= (n.6982-8T=)
c.6952-8T= (n.6952-8T=)
c.6904-8T= (n.6904-8T=)
c.6871-8T= (n.6871-8T=)
c.6841-8T= (n.6841-8T=)
c.6838-8T= (n.6838-8T=)
c.6790-8T= (n.6790-8T=)
c.6754-8T= (n.6754-8T=)
c.6751-8T= (n.6751-8T=)
c.6706-8T= (n.6706-8T=)
n.7371-8T=
Xg.77520924A>GCA10457427ATRXc.7072-8T>C (n.7072-8T>C)
c.2170-8T>C (n.2170-8T>C)
c.6958-8T>C (n.6958-8T>C)
c.*6700-8T>C (n.*6700-8T>C)
n.5384T>C
n.303-8T>C
c.7069-8T>C (n.7069-8T>C)
c.6985-8T>C (n.6985-8T>C)
c.6955-8T>C (n.6955-8T>C)
c.6907-8T>C (n.6907-8T>C)
c.6868-8T>C (n.6868-8T>C)
c.6793-8T>C (n.6793-8T>C)
n.8656T>C
c.6982-8T>C (n.6982-8T>C)
c.6952-8T>C (n.6952-8T>C)
c.6904-8T>C (n.6904-8T>C)
c.6871-8T>C (n.6871-8T>C)
c.6841-8T>C (n.6841-8T>C)
c.6838-8T>C (n.6838-8T>C)
c.6790-8T>C (n.6790-8T>C)
c.6754-8T>C (n.6754-8T>C)
c.6751-8T>C (n.6751-8T>C)
c.6706-8T>C (n.6706-8T>C)
n.7371-8T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77520928delCA2548632231ATRXc.7072-8del (n.7072-8del)
c.2170-8del (n.2170-8del)
c.6958-8del (n.6958-8del)
c.*6700-8del (n.*6700-8del)
n.5384del
n.303-8del
c.7069-8del (n.7069-8del)
c.6985-8del (n.6985-8del)
c.6955-8del (n.6955-8del)
c.6907-8del (n.6907-8del)
c.6868-8del (n.6868-8del)
c.6793-8del (n.6793-8del)
n.8656del
c.6982-8del (n.6982-8del)
c.6952-8del (n.6952-8del)
c.6904-8del (n.6904-8del)
c.6871-8del (n.6871-8del)
c.6841-8del (n.6841-8del)
c.6838-8del (n.6838-8del)
c.6790-8del (n.6790-8del)
c.6754-8del (n.6754-8del)
c.6751-8del (n.6751-8del)
c.6706-8del (n.6706-8del)
n.7371-8del
Xg.77520925A>GCA2580101393ATRXc.7072-9T>C (n.7072-9T>C)
c.2170-9T>C (n.2170-9T>C)
c.6958-9T>C (n.6958-9T>C)
c.*6700-9T>C (n.*6700-9T>C)
n.5383T>C
n.303-9T>C
c.7069-9T>C (n.7069-9T>C)
c.6985-9T>C (n.6985-9T>C)
c.6955-9T>C (n.6955-9T>C)
c.6907-9T>C (n.6907-9T>C)
c.6868-9T>C (n.6868-9T>C)
c.6793-9T>C (n.6793-9T>C)
n.8655T>C
c.6982-9T>C (n.6982-9T>C)
c.6952-9T>C (n.6952-9T>C)
c.6904-9T>C (n.6904-9T>C)
c.6871-9T>C (n.6871-9T>C)
c.6841-9T>C (n.6841-9T>C)
c.6838-9T>C (n.6838-9T>C)
c.6790-9T>C (n.6790-9T>C)
c.6754-9T>C (n.6754-9T>C)
c.6751-9T>C (n.6751-9T>C)
c.6706-9T>C (n.6706-9T>C)
n.7371-9T>C
 ClinVar
Xg.77520926_77520927insTTATCA2738722376ATRXc.7072-11_7072-10insATAA (n.7072-11_7072-10insATAA)
c.2170-11_2170-10insATAA (n.2170-11_2170-10insATAA)
c.6958-11_6958-10insATAA (n.6958-11_6958-10insATAA)
c.*6700-11_*6700-10insATAA (n.*6700-11_*6700-10insATAA)
n.5381_5382insATAA
n.303-11_303-10insATAA
c.7069-11_7069-10insATAA (n.7069-11_7069-10insATAA)
c.6985-11_6985-10insATAA (n.6985-11_6985-10insATAA)
c.6955-11_6955-10insATAA (n.6955-11_6955-10insATAA)
c.6907-11_6907-10insATAA (n.6907-11_6907-10insATAA)
c.6868-11_6868-10insATAA (n.6868-11_6868-10insATAA)
c.6793-11_6793-10insATAA (n.6793-11_6793-10insATAA)
n.8653_8654insATAA
c.6982-11_6982-10insATAA (n.6982-11_6982-10insATAA)
c.6952-11_6952-10insATAA (n.6952-11_6952-10insATAA)
c.6904-11_6904-10insATAA (n.6904-11_6904-10insATAA)
c.6871-11_6871-10insATAA (n.6871-11_6871-10insATAA)
c.6841-11_6841-10insATAA (n.6841-11_6841-10insATAA)
c.6838-11_6838-10insATAA (n.6838-11_6838-10insATAA)
c.6790-11_6790-10insATAA (n.6790-11_6790-10insATAA)
c.6754-11_6754-10insATAA (n.6754-11_6754-10insATAA)
c.6751-11_6751-10insATAA (n.6751-11_6751-10insATAA)
c.6706-11_6706-10insATAA (n.6706-11_6706-10insATAA)
n.7371-11_7371-10insATAA
 dbSNP
Xg.77520928A>TCA2694139335ATRXc.7072-12T>A (n.7072-12T>A)
c.2170-12T>A (n.2170-12T>A)
c.6958-12T>A (n.6958-12T>A)
c.*6700-12T>A (n.*6700-12T>A)
n.5380T>A
n.303-12T>A
c.7069-12T>A (n.7069-12T>A)
c.6985-12T>A (n.6985-12T>A)
c.6955-12T>A (n.6955-12T>A)
c.6907-12T>A (n.6907-12T>A)
c.6868-12T>A (n.6868-12T>A)
c.6793-12T>A (n.6793-12T>A)
n.8652T>A
c.6982-12T>A (n.6982-12T>A)
c.6952-12T>A (n.6952-12T>A)
c.6904-12T>A (n.6904-12T>A)
c.6871-12T>A (n.6871-12T>A)
c.6841-12T>A (n.6841-12T>A)
c.6838-12T>A (n.6838-12T>A)
c.6790-12T>A (n.6790-12T>A)
c.6754-12T>A (n.6754-12T>A)
c.6751-12T>A (n.6751-12T>A)
c.6706-12T>A (n.6706-12T>A)
n.7371-12T>A
 gnomAD v4
Xg.77520929T>ACA2438933086ATRXc.7072-13A>T (n.7072-13A>T)
c.2170-13A>T (n.2170-13A>T)
c.6958-13A>T (n.6958-13A>T)
c.*6700-13A>T (n.*6700-13A>T)
n.5379A>T
n.303-13A>T
c.7069-13A>T (n.7069-13A>T)
c.6985-13A>T (n.6985-13A>T)
c.6955-13A>T (n.6955-13A>T)
c.6907-13A>T (n.6907-13A>T)
c.6868-13A>T (n.6868-13A>T)
c.6793-13A>T (n.6793-13A>T)
n.8651A>T
c.6982-13A>T (n.6982-13A>T)
c.6952-13A>T (n.6952-13A>T)
c.6904-13A>T (n.6904-13A>T)
c.6871-13A>T (n.6871-13A>T)
c.6841-13A>T (n.6841-13A>T)
c.6838-13A>T (n.6838-13A>T)
c.6790-13A>T (n.6790-13A>T)
c.6754-13A>T (n.6754-13A>T)
c.6751-13A>T (n.6751-13A>T)
c.6706-13A>T (n.6706-13A>T)
n.7371-13A>T
 dbSNP gnomAD v4
Xg.77520929T>GCA2567337299ATRXc.7072-13A>C (n.7072-13A>C)
c.2170-13A>C (n.2170-13A>C)
c.6958-13A>C (n.6958-13A>C)
c.*6700-13A>C (n.*6700-13A>C)
n.5379A>C
n.303-13A>C
c.7069-13A>C (n.7069-13A>C)
c.6985-13A>C (n.6985-13A>C)
c.6955-13A>C (n.6955-13A>C)
c.6907-13A>C (n.6907-13A>C)
c.6868-13A>C (n.6868-13A>C)
c.6793-13A>C (n.6793-13A>C)
n.8651A>C
c.6982-13A>C (n.6982-13A>C)
c.6952-13A>C (n.6952-13A>C)
c.6904-13A>C (n.6904-13A>C)
c.6871-13A>C (n.6871-13A>C)
c.6841-13A>C (n.6841-13A>C)
c.6838-13A>C (n.6838-13A>C)
c.6790-13A>C (n.6790-13A>C)
c.6754-13A>C (n.6754-13A>C)
c.6751-13A>C (n.6751-13A>C)
c.6706-13A>C (n.6706-13A>C)
n.7371-13A>C
Xg.77520929T=CA2438933085ATRXc.7072-13A= (n.7072-13A=)
c.2170-13A= (n.2170-13A=)
c.6958-13A= (n.6958-13A=)
c.*6700-13A= (n.*6700-13A=)
n.5379A=
n.303-13A=
c.7069-13A= (n.7069-13A=)
c.6985-13A= (n.6985-13A=)
c.6955-13A= (n.6955-13A=)
c.6907-13A= (n.6907-13A=)
c.6868-13A= (n.6868-13A=)
c.6793-13A= (n.6793-13A=)
n.8651A=
c.6982-13A= (n.6982-13A=)
c.6952-13A= (n.6952-13A=)
c.6904-13A= (n.6904-13A=)
c.6871-13A= (n.6871-13A=)
c.6841-13A= (n.6841-13A=)
c.6838-13A= (n.6838-13A=)
c.6790-13A= (n.6790-13A=)
c.6754-13A= (n.6754-13A=)
c.6751-13A= (n.6751-13A=)
c.6706-13A= (n.6706-13A=)
n.7371-13A=
Xg.77520933C=CA2438933087ATRXc.7072-17G= (n.7072-17G=)
c.2170-17G= (n.2170-17G=)
c.6958-17G= (n.6958-17G=)
c.*6700-17G= (n.*6700-17G=)
n.5375G=
n.303-17G=
c.7069-17G= (n.7069-17G=)
c.6985-17G= (n.6985-17G=)
c.6955-17G= (n.6955-17G=)
c.6907-17G= (n.6907-17G=)
c.6868-17G= (n.6868-17G=)
c.6793-17G= (n.6793-17G=)
n.8647G=
c.6982-17G= (n.6982-17G=)
c.6952-17G= (n.6952-17G=)
c.6904-17G= (n.6904-17G=)
c.6871-17G= (n.6871-17G=)
c.6841-17G= (n.6841-17G=)
c.6838-17G= (n.6838-17G=)
c.6790-17G= (n.6790-17G=)
c.6754-17G= (n.6754-17G=)
c.6751-17G= (n.6751-17G=)
c.6706-17G= (n.6706-17G=)
n.7371-17G=
Xg.77520934T>CCA2694139336ATRXc.7072-18A>G (n.7072-18A>G)
c.2170-18A>G (n.2170-18A>G)
c.6958-18A>G (n.6958-18A>G)
c.*6700-18A>G (n.*6700-18A>G)
n.5374A>G
n.303-18A>G
c.7069-18A>G (n.7069-18A>G)
c.6985-18A>G (n.6985-18A>G)
c.6955-18A>G (n.6955-18A>G)
c.6907-18A>G (n.6907-18A>G)
c.6868-18A>G (n.6868-18A>G)
c.6793-18A>G (n.6793-18A>G)
n.8646A>G
c.6982-18A>G (n.6982-18A>G)
c.6952-18A>G (n.6952-18A>G)
c.6904-18A>G (n.6904-18A>G)
c.6871-18A>G (n.6871-18A>G)
c.6841-18A>G (n.6841-18A>G)
c.6838-18A>G (n.6838-18A>G)
c.6790-18A>G (n.6790-18A>G)
c.6754-18A>G (n.6754-18A>G)
c.6751-18A>G (n.6751-18A>G)
c.6706-18A>G (n.6706-18A>G)
n.7371-18A>G
 gnomAD v4
Xg.77520934_77520935insTGACTTTATAATAAGTTTGTCA10457428ATRXc.7072-18_7072-17insCAAACTTATTATAAAGTCAA (n.7072-18_7072-17insCAAACTTATTATAAAGTCAA)
c.2170-18_2170-17insCAAACTTATTATAAAGTCAA (n.2170-18_2170-17insCAAACTTATTATAAAGTCAA)
c.6958-18_6958-17insCAAACTTATTATAAAGTCAA (n.6958-18_6958-17insCAAACTTATTATAAAGTCAA)
c.*6700-18_*6700-17insCAAACTTATTATAAAGTCAA (n.*6700-18_*6700-17insCAAACTTATTATAAAGTCAA)
n.5374_5375insCAAACTTATTATAAAGTCAA
n.303-18_303-17insCAAACTTATTATAAAGTCAA
c.7069-18_7069-17insCAAACTTATTATAAAGTCAA (n.7069-18_7069-17insCAAACTTATTATAAAGTCAA)
c.6985-18_6985-17insCAAACTTATTATAAAGTCAA (n.6985-18_6985-17insCAAACTTATTATAAAGTCAA)
c.6955-18_6955-17insCAAACTTATTATAAAGTCAA (n.6955-18_6955-17insCAAACTTATTATAAAGTCAA)
c.6907-18_6907-17insCAAACTTATTATAAAGTCAA (n.6907-18_6907-17insCAAACTTATTATAAAGTCAA)
c.6868-18_6868-17insCAAACTTATTATAAAGTCAA (n.6868-18_6868-17insCAAACTTATTATAAAGTCAA)
c.6793-18_6793-17insCAAACTTATTATAAAGTCAA (n.6793-18_6793-17insCAAACTTATTATAAAGTCAA)
n.8646_8647insCAAACTTATTATAAAGTCAA
c.6982-18_6982-17insCAAACTTATTATAAAGTCAA (n.6982-18_6982-17insCAAACTTATTATAAAGTCAA)
c.6952-18_6952-17insCAAACTTATTATAAAGTCAA (n.6952-18_6952-17insCAAACTTATTATAAAGTCAA)
c.6904-18_6904-17insCAAACTTATTATAAAGTCAA (n.6904-18_6904-17insCAAACTTATTATAAAGTCAA)
c.6871-18_6871-17insCAAACTTATTATAAAGTCAA (n.6871-18_6871-17insCAAACTTATTATAAAGTCAA)
c.6841-18_6841-17insCAAACTTATTATAAAGTCAA (n.6841-18_6841-17insCAAACTTATTATAAAGTCAA)
c.6838-18_6838-17insCAAACTTATTATAAAGTCAA (n.6838-18_6838-17insCAAACTTATTATAAAGTCAA)
c.6790-18_6790-17insCAAACTTATTATAAAGTCAA (n.6790-18_6790-17insCAAACTTATTATAAAGTCAA)
c.6754-18_6754-17insCAAACTTATTATAAAGTCAA (n.6754-18_6754-17insCAAACTTATTATAAAGTCAA)
c.6751-18_6751-17insCAAACTTATTATAAAGTCAA (n.6751-18_6751-17insCAAACTTATTATAAAGTCAA)
c.6706-18_6706-17insCAAACTTATTATAAAGTCAA (n.6706-18_6706-17insCAAACTTATTATAAAGTCAA)
n.7371-18_7371-17insCAAACTTATTATAAAGTCAA
 dbSNP ExAC
Xg.77520935delCA2694139337ATRXc.7072-19del (n.7072-19del)
c.2170-19del (n.2170-19del)
c.6958-19del (n.6958-19del)
c.*6700-19del (n.*6700-19del)
n.5373del
n.303-19del
c.7069-19del (n.7069-19del)
c.6985-19del (n.6985-19del)
c.6955-19del (n.6955-19del)
c.6907-19del (n.6907-19del)
c.6868-19del (n.6868-19del)
c.6793-19del (n.6793-19del)
n.8645del
c.6982-19del (n.6982-19del)
c.6952-19del (n.6952-19del)
c.6904-19del (n.6904-19del)
c.6871-19del (n.6871-19del)
c.6841-19del (n.6841-19del)
c.6838-19del (n.6838-19del)
c.6790-19del (n.6790-19del)
c.6754-19del (n.6754-19del)
c.6751-19del (n.6751-19del)
c.6706-19del (n.6706-19del)
n.7371-19del
 gnomAD v4
Xg.77520935A>TCA2694139338ATRXc.7072-19T>A (n.7072-19T>A)
c.2170-19T>A (n.2170-19T>A)
c.6958-19T>A (n.6958-19T>A)
c.*6700-19T>A (n.*6700-19T>A)
n.5373T>A
n.303-19T>A
c.7069-19T>A (n.7069-19T>A)
c.6985-19T>A (n.6985-19T>A)
c.6955-19T>A (n.6955-19T>A)
c.6907-19T>A (n.6907-19T>A)
c.6868-19T>A (n.6868-19T>A)
c.6793-19T>A (n.6793-19T>A)
n.8645T>A
c.6982-19T>A (n.6982-19T>A)
c.6952-19T>A (n.6952-19T>A)
c.6904-19T>A (n.6904-19T>A)
c.6871-19T>A (n.6871-19T>A)
c.6841-19T>A (n.6841-19T>A)
c.6838-19T>A (n.6838-19T>A)
c.6790-19T>A (n.6790-19T>A)
c.6754-19T>A (n.6754-19T>A)
c.6751-19T>A (n.6751-19T>A)
c.6706-19T>A (n.6706-19T>A)
n.7371-19T>A
 gnomAD v4
Xg.77520936T>CCA2694139339ATRXc.7072-20A>G (n.7072-20A>G)
c.2170-20A>G (n.2170-20A>G)
c.6958-20A>G (n.6958-20A>G)
c.*6700-20A>G (n.*6700-20A>G)
n.5372A>G
n.303-20A>G
c.7069-20A>G (n.7069-20A>G)
c.6985-20A>G (n.6985-20A>G)
c.6955-20A>G (n.6955-20A>G)
c.6907-20A>G (n.6907-20A>G)
c.6868-20A>G (n.6868-20A>G)
c.6793-20A>G (n.6793-20A>G)
n.8644A>G
c.6982-20A>G (n.6982-20A>G)
c.6952-20A>G (n.6952-20A>G)
c.6904-20A>G (n.6904-20A>G)
c.6871-20A>G (n.6871-20A>G)
c.6841-20A>G (n.6841-20A>G)
c.6838-20A>G (n.6838-20A>G)
c.6790-20A>G (n.6790-20A>G)
c.6754-20A>G (n.6754-20A>G)
c.6751-20A>G (n.6751-20A>G)
c.6706-20A>G (n.6706-20A>G)
n.7371-20A>G
 gnomAD v4
Xg.77520938delCA2579648669ATRXc.7072-20del (n.7072-20del)
c.2170-20del (n.2170-20del)
c.6958-20del (n.6958-20del)
c.*6700-20del (n.*6700-20del)
n.5372del
n.303-20del
c.7069-20del (n.7069-20del)
c.6985-20del (n.6985-20del)
c.6955-20del (n.6955-20del)
c.6907-20del (n.6907-20del)
c.6868-20del (n.6868-20del)
c.6793-20del (n.6793-20del)
n.8644del
c.6982-20del (n.6982-20del)
c.6952-20del (n.6952-20del)
c.6904-20del (n.6904-20del)
c.6871-20del (n.6871-20del)
c.6841-20del (n.6841-20del)
c.6838-20del (n.6838-20del)
c.6790-20del (n.6790-20del)
c.6754-20del (n.6754-20del)
c.6751-20del (n.6751-20del)
c.6706-20del (n.6706-20del)
n.7371-20del
Xg.77520938T>ACA2694139340ATRXc.7072-22A>T (n.7072-22A>T)
c.2170-22A>T (n.2170-22A>T)
c.6958-22A>T (n.6958-22A>T)
c.*6700-22A>T (n.*6700-22A>T)
n.5370A>T
n.303-22A>T
c.7069-22A>T (n.7069-22A>T)
c.6985-22A>T (n.6985-22A>T)
c.6955-22A>T (n.6955-22A>T)
c.6907-22A>T (n.6907-22A>T)
c.6868-22A>T (n.6868-22A>T)
c.6793-22A>T (n.6793-22A>T)
n.8642A>T
c.6982-22A>T (n.6982-22A>T)
c.6952-22A>T (n.6952-22A>T)
c.6904-22A>T (n.6904-22A>T)
c.6871-22A>T (n.6871-22A>T)
c.6841-22A>T (n.6841-22A>T)
c.6838-22A>T (n.6838-22A>T)
c.6790-22A>T (n.6790-22A>T)
c.6754-22A>T (n.6754-22A>T)
c.6751-22A>T (n.6751-22A>T)
c.6706-22A>T (n.6706-22A>T)
n.7371-22A>T
 gnomAD v4

Number of alleles fetched