Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77508472T>ACA413704157ATRXc.7358A>T (p.Gln2453Leu)
c.2456A>T (p.Gln819Leu)
c.7244A>T (p.Gln2415Leu)
c.*6986A>T (n.*6986A>T)
n.5678A>T
c.7355A>T (p.Gln2452Leu)
c.7271A>T (p.Gln2424Leu)
c.7241A>T (p.Gln2414Leu)
c.7193A>T (p.Gln2398Leu)
c.7154A>T (p.Gln2385Leu)
c.7079A>T (p.Gln2360Leu)
n.8950A>T
c.7268A>T (p.Gln2423Leu)
c.7238A>T (p.Gln2413Leu)
c.7190A>T (p.Gln2397Leu)
c.7157A>T (p.Gln2386Leu)
c.7127A>T (p.Gln2376Leu)
c.7124A>T (p.Gln2375Leu)
c.7076A>T (p.Gln2359Leu)
c.7040A>T (p.Gln2347Leu)
c.7037A>T (p.Gln2346Leu)
c.6992A>T (p.Gln2331Leu)
n.7657A>T
Xg.77508472T>CCA413704161ATRXc.7358A>G (p.Gln2453Arg)
c.2456A>G (p.Gln819Arg)
c.7244A>G (p.Gln2415Arg)
c.*6986A>G (n.*6986A>G)
n.5678A>G
c.7355A>G (p.Gln2452Arg)
c.7271A>G (p.Gln2424Arg)
c.7241A>G (p.Gln2414Arg)
c.7193A>G (p.Gln2398Arg)
c.7154A>G (p.Gln2385Arg)
c.7079A>G (p.Gln2360Arg)
n.8950A>G
c.7268A>G (p.Gln2423Arg)
c.7238A>G (p.Gln2413Arg)
c.7190A>G (p.Gln2397Arg)
c.7157A>G (p.Gln2386Arg)
c.7127A>G (p.Gln2376Arg)
c.7124A>G (p.Gln2375Arg)
c.7076A>G (p.Gln2359Arg)
c.7040A>G (p.Gln2347Arg)
c.7037A>G (p.Gln2346Arg)
c.6992A>G (p.Gln2331Arg)
n.7657A>G
Xg.77508472T>GCA413704162ATRXc.7358A>C (p.Gln2453Pro)
c.2456A>C (p.Gln819Pro)
c.7244A>C (p.Gln2415Pro)
c.*6986A>C (n.*6986A>C)
n.5678A>C
c.7355A>C (p.Gln2452Pro)
c.7271A>C (p.Gln2424Pro)
c.7241A>C (p.Gln2414Pro)
c.7193A>C (p.Gln2398Pro)
c.7154A>C (p.Gln2385Pro)
c.7079A>C (p.Gln2360Pro)
n.8950A>C
c.7268A>C (p.Gln2423Pro)
c.7238A>C (p.Gln2413Pro)
c.7190A>C (p.Gln2397Pro)
c.7157A>C (p.Gln2386Pro)
c.7127A>C (p.Gln2376Pro)
c.7124A>C (p.Gln2375Pro)
c.7076A>C (p.Gln2359Pro)
c.7040A>C (p.Gln2347Pro)
c.7037A>C (p.Gln2346Pro)
c.6992A>C (p.Gln2331Pro)
n.7657A>C
Xg.77508473G>ACA413704164ATRXc.7357C>T (p.Gln2453Ter)
c.2455C>T (p.Gln819Ter)
c.7243C>T (p.Gln2415Ter)
c.*6985C>T (n.*6985C>T)
n.5677C>T
c.7354C>T (p.Gln2452Ter)
c.7270C>T (p.Gln2424Ter)
c.7240C>T (p.Gln2414Ter)
c.7192C>T (p.Gln2398Ter)
c.7153C>T (p.Gln2385Ter)
c.7078C>T (p.Gln2360Ter)
n.8949C>T
c.7267C>T (p.Gln2423Ter)
c.7237C>T (p.Gln2413Ter)
c.7189C>T (p.Gln2397Ter)
c.7156C>T (p.Gln2386Ter)
c.7126C>T (p.Gln2376Ter)
c.7123C>T (p.Gln2375Ter)
c.7075C>T (p.Gln2359Ter)
c.7039C>T (p.Gln2347Ter)
c.7036C>T (p.Gln2346Ter)
c.6991C>T (p.Gln2331Ter)
n.7656C>T
 dbSNP
Xg.77508473G>CCA413704168ATRXc.7357C>G (p.Gln2453Glu)
c.2455C>G (p.Gln819Glu)
c.7243C>G (p.Gln2415Glu)
c.*6985C>G (n.*6985C>G)
n.5677C>G
c.7354C>G (p.Gln2452Glu)
c.7270C>G (p.Gln2424Glu)
c.7240C>G (p.Gln2414Glu)
c.7192C>G (p.Gln2398Glu)
c.7153C>G (p.Gln2385Glu)
c.7078C>G (p.Gln2360Glu)
n.8949C>G
c.7267C>G (p.Gln2423Glu)
c.7237C>G (p.Gln2413Glu)
c.7189C>G (p.Gln2397Glu)
c.7156C>G (p.Gln2386Glu)
c.7126C>G (p.Gln2376Glu)
c.7123C>G (p.Gln2375Glu)
c.7075C>G (p.Gln2359Glu)
c.7039C>G (p.Gln2347Glu)
c.7036C>G (p.Gln2346Glu)
c.6991C>G (p.Gln2331Glu)
n.7656C>G
 dbSNP
Xg.77508473G>TCA413704163ATRXc.7357C>A (p.Gln2453Lys)
c.2455C>A (p.Gln819Lys)
c.7243C>A (p.Gln2415Lys)
c.*6985C>A (n.*6985C>A)
n.5677C>A
c.7354C>A (p.Gln2452Lys)
c.7270C>A (p.Gln2424Lys)
c.7240C>A (p.Gln2414Lys)
c.7192C>A (p.Gln2398Lys)
c.7153C>A (p.Gln2385Lys)
c.7078C>A (p.Gln2360Lys)
n.8949C>A
c.7267C>A (p.Gln2423Lys)
c.7237C>A (p.Gln2413Lys)
c.7189C>A (p.Gln2397Lys)
c.7156C>A (p.Gln2386Lys)
c.7126C>A (p.Gln2376Lys)
c.7123C>A (p.Gln2375Lys)
c.7075C>A (p.Gln2359Lys)
c.7039C>A (p.Gln2347Lys)
c.7036C>A (p.Gln2346Lys)
c.6991C>A (p.Gln2331Lys)
n.7656C>A
Xg.77508474C>ACA413704171ATRXc.7356G>T (p.Gln2452His)
c.2454G>T (p.Gln818His)
c.7242G>T (p.Gln2414His)
c.*6984G>T (n.*6984G>T)
n.5676G>T
c.7353G>T (p.Gln2451His)
c.7269G>T (p.Gln2423His)
c.7239G>T (p.Gln2413His)
c.7191G>T (p.Gln2397His)
c.7152G>T (p.Gln2384His)
c.7077G>T (p.Gln2359His)
n.8948G>T
c.7266G>T (p.Gln2422His)
c.7236G>T (p.Gln2412His)
c.7188G>T (p.Gln2396His)
c.7155G>T (p.Gln2385His)
c.7125G>T (p.Gln2375His)
c.7122G>T (p.Gln2374His)
c.7074G>T (p.Gln2358His)
c.7038G>T (p.Gln2346His)
c.7035G>T (p.Gln2345His)
c.6990G>T (p.Gln2330His)
n.7655G>T
 dbSNP
Xg.77508474C>GCA413704172ATRXc.7356G>C (p.Gln2452His)
c.2454G>C (p.Gln818His)
c.7242G>C (p.Gln2414His)
c.*6984G>C (n.*6984G>C)
n.5676G>C
c.7353G>C (p.Gln2451His)
c.7269G>C (p.Gln2423His)
c.7239G>C (p.Gln2413His)
c.7191G>C (p.Gln2397His)
c.7152G>C (p.Gln2384His)
c.7077G>C (p.Gln2359His)
n.8948G>C
c.7266G>C (p.Gln2422His)
c.7236G>C (p.Gln2412His)
c.7188G>C (p.Gln2396His)
c.7155G>C (p.Gln2385His)
c.7125G>C (p.Gln2375His)
c.7122G>C (p.Gln2374His)
c.7074G>C (p.Gln2358His)
c.7038G>C (p.Gln2346His)
c.7035G>C (p.Gln2345His)
c.6990G>C (p.Gln2330His)
n.7655G>C
 dbSNP
Xg.77508474C>TCA517374085ATRXc.7356G>A (p.Gln2452=)
c.2454G>A (p.Gln818=)
c.7242G>A (p.Gln2414=)
c.*6984G>A (n.*6984G>A)
n.5676G>A
c.7353G>A (p.Gln2451=)
c.7269G>A (p.Gln2423=)
c.7239G>A (p.Gln2413=)
c.7191G>A (p.Gln2397=)
c.7152G>A (p.Gln2384=)
c.7077G>A (p.Gln2359=)
n.8948G>A
c.7266G>A (p.Gln2422=)
c.7236G>A (p.Gln2412=)
c.7188G>A (p.Gln2396=)
c.7155G>A (p.Gln2385=)
c.7125G>A (p.Gln2375=)
c.7122G>A (p.Gln2374=)
c.7074G>A (p.Gln2358=)
c.7038G>A (p.Gln2346=)
c.7035G>A (p.Gln2345=)
c.6990G>A (p.Gln2330=)
n.7655G>A
 ClinVar dbSNP
Xg.77508475T>ACA413704173ATRXc.7355A>T (p.Gln2452Leu)
c.2453A>T (p.Gln818Leu)
c.7241A>T (p.Gln2414Leu)
c.*6983A>T (n.*6983A>T)
n.5675A>T
c.7352A>T (p.Gln2451Leu)
c.7268A>T (p.Gln2423Leu)
c.7238A>T (p.Gln2413Leu)
c.7190A>T (p.Gln2397Leu)
c.7151A>T (p.Gln2384Leu)
c.7076A>T (p.Gln2359Leu)
n.8947A>T
c.7265A>T (p.Gln2422Leu)
c.7235A>T (p.Gln2412Leu)
c.7187A>T (p.Gln2396Leu)
c.7154A>T (p.Gln2385Leu)
c.7124A>T (p.Gln2375Leu)
c.7121A>T (p.Gln2374Leu)
c.7073A>T (p.Gln2358Leu)
c.7037A>T (p.Gln2346Leu)
c.7034A>T (p.Gln2345Leu)
c.6989A>T (p.Gln2330Leu)
n.7654A>T
Xg.77508475T>CCA413704175ATRXc.7355A>G (p.Gln2452Arg)
c.2453A>G (p.Gln818Arg)
c.7241A>G (p.Gln2414Arg)
c.*6983A>G (n.*6983A>G)
n.5675A>G
c.7352A>G (p.Gln2451Arg)
c.7268A>G (p.Gln2423Arg)
c.7238A>G (p.Gln2413Arg)
c.7190A>G (p.Gln2397Arg)
c.7151A>G (p.Gln2384Arg)
c.7076A>G (p.Gln2359Arg)
n.8947A>G
c.7265A>G (p.Gln2422Arg)
c.7235A>G (p.Gln2412Arg)
c.7187A>G (p.Gln2396Arg)
c.7154A>G (p.Gln2385Arg)
c.7124A>G (p.Gln2375Arg)
c.7121A>G (p.Gln2374Arg)
c.7073A>G (p.Gln2358Arg)
c.7037A>G (p.Gln2346Arg)
c.7034A>G (p.Gln2345Arg)
c.6989A>G (p.Gln2330Arg)
n.7654A>G
Xg.77508475T>GCA413704184ATRXc.7355A>C (p.Gln2452Pro)
c.2453A>C (p.Gln818Pro)
c.7241A>C (p.Gln2414Pro)
c.*6983A>C (n.*6983A>C)
n.5675A>C
c.7352A>C (p.Gln2451Pro)
c.7268A>C (p.Gln2423Pro)
c.7238A>C (p.Gln2413Pro)
c.7190A>C (p.Gln2397Pro)
c.7151A>C (p.Gln2384Pro)
c.7076A>C (p.Gln2359Pro)
n.8947A>C
c.7265A>C (p.Gln2422Pro)
c.7235A>C (p.Gln2412Pro)
c.7187A>C (p.Gln2396Pro)
c.7154A>C (p.Gln2385Pro)
c.7124A>C (p.Gln2375Pro)
c.7121A>C (p.Gln2374Pro)
c.7073A>C (p.Gln2358Pro)
c.7037A>C (p.Gln2346Pro)
c.7034A>C (p.Gln2345Pro)
c.6989A>C (p.Gln2330Pro)
n.7654A>C
Xg.77508476G>ACA413704193ATRXc.7354C>T (p.Gln2452Ter)
c.2452C>T (p.Gln818Ter)
c.7240C>T (p.Gln2414Ter)
c.*6982C>T (n.*6982C>T)
n.5674C>T
c.7351C>T (p.Gln2451Ter)
c.7267C>T (p.Gln2423Ter)
c.7237C>T (p.Gln2413Ter)
c.7189C>T (p.Gln2397Ter)
c.7150C>T (p.Gln2384Ter)
c.7075C>T (p.Gln2359Ter)
n.8946C>T
c.7264C>T (p.Gln2422Ter)
c.7234C>T (p.Gln2412Ter)
c.7186C>T (p.Gln2396Ter)
c.7153C>T (p.Gln2385Ter)
c.7123C>T (p.Gln2375Ter)
c.7120C>T (p.Gln2374Ter)
c.7072C>T (p.Gln2358Ter)
c.7036C>T (p.Gln2346Ter)
c.7033C>T (p.Gln2345Ter)
c.6988C>T (p.Gln2330Ter)
n.7653C>T
Xg.77508476G>CCA413704188ATRXc.7354C>G (p.Gln2452Glu)
c.2452C>G (p.Gln818Glu)
c.7240C>G (p.Gln2414Glu)
c.*6982C>G (n.*6982C>G)
n.5674C>G
c.7351C>G (p.Gln2451Glu)
c.7267C>G (p.Gln2423Glu)
c.7237C>G (p.Gln2413Glu)
c.7189C>G (p.Gln2397Glu)
c.7150C>G (p.Gln2384Glu)
c.7075C>G (p.Gln2359Glu)
n.8946C>G
c.7264C>G (p.Gln2422Glu)
c.7234C>G (p.Gln2412Glu)
c.7186C>G (p.Gln2396Glu)
c.7153C>G (p.Gln2385Glu)
c.7123C>G (p.Gln2375Glu)
c.7120C>G (p.Gln2374Glu)
c.7072C>G (p.Gln2358Glu)
c.7036C>G (p.Gln2346Glu)
c.7033C>G (p.Gln2345Glu)
c.6988C>G (p.Gln2330Glu)
n.7653C>G
 dbSNP
Xg.77508476G>TCA413704190ATRXc.7354C>A (p.Gln2452Lys)
c.2452C>A (p.Gln818Lys)
c.7240C>A (p.Gln2414Lys)
c.*6982C>A (n.*6982C>A)
n.5674C>A
c.7351C>A (p.Gln2451Lys)
c.7267C>A (p.Gln2423Lys)
c.7237C>A (p.Gln2413Lys)
c.7189C>A (p.Gln2397Lys)
c.7150C>A (p.Gln2384Lys)
c.7075C>A (p.Gln2359Lys)
n.8946C>A
c.7264C>A (p.Gln2422Lys)
c.7234C>A (p.Gln2412Lys)
c.7186C>A (p.Gln2396Lys)
c.7153C>A (p.Gln2385Lys)
c.7123C>A (p.Gln2375Lys)
c.7120C>A (p.Gln2374Lys)
c.7072C>A (p.Gln2358Lys)
c.7036C>A (p.Gln2346Lys)
c.7033C>A (p.Gln2345Lys)
c.6988C>A (p.Gln2330Lys)
n.7653C>A
 dbSNP
Xg.77508477delCA2738724212ATRXc.7354del (p.Gln2452SerfsTer5)
c.2452del (p.Gln818SerfsTer5)
c.7240del (p.Gln2414SerfsTer5)
c.*6982del (n.*6982del)
n.5674del
c.7351del (p.Gln2451SerfsTer5)
c.7267del (p.Gln2423SerfsTer5)
c.7237del (p.Gln2413SerfsTer5)
c.7189del (p.Gln2397SerfsTer5)
c.7150del (p.Gln2384SerfsTer5)
c.7075del (p.Gln2359SerfsTer5)
n.8946del
c.7264del (p.Gln2422SerfsTer5)
c.7234del (p.Gln2412SerfsTer5)
c.7186del (p.Gln2396SerfsTer5)
c.7153del (p.Gln2385SerfsTer5)
c.7123del (p.Gln2375SerfsTer5)
c.7120del (p.Gln2374SerfsTer5)
c.7072del (p.Gln2358SerfsTer5)
c.7036del (p.Gln2346SerfsTer5)
c.7033del (p.Gln2345SerfsTer5)
c.6988del (p.Gln2330SerfsTer5)
n.7653del
 dbSNP
Xg.77508477G>ACA517374087ATRXc.7353C>T (p.Tyr2451=)
c.2451C>T (p.Tyr817=)
c.7239C>T (p.Tyr2413=)
c.*6981C>T (n.*6981C>T)
n.5673C>T
c.7350C>T (p.Tyr2450=)
c.7266C>T (p.Tyr2422=)
c.7236C>T (p.Tyr2412=)
c.7188C>T (p.Tyr2396=)
c.7149C>T (p.Tyr2383=)
c.7074C>T (p.Tyr2358=)
n.8945C>T
c.7263C>T (p.Tyr2421=)
c.7233C>T (p.Tyr2411=)
c.7185C>T (p.Tyr2395=)
c.7152C>T (p.Tyr2384=)
c.7122C>T (p.Tyr2374=)
c.7119C>T (p.Tyr2373=)
c.7071C>T (p.Tyr2357=)
c.7035C>T (p.Tyr2345=)
c.7032C>T (p.Tyr2344=)
c.6987C>T (p.Tyr2329=)
n.7652C>T
Xg.77508477G>CCA413704196ATRXc.7353C>G (p.Tyr2451Ter)
c.2451C>G (p.Tyr817Ter)
c.7239C>G (p.Tyr2413Ter)
c.*6981C>G (n.*6981C>G)
n.5673C>G
c.7350C>G (p.Tyr2450Ter)
c.7266C>G (p.Tyr2422Ter)
c.7236C>G (p.Tyr2412Ter)
c.7188C>G (p.Tyr2396Ter)
c.7149C>G (p.Tyr2383Ter)
c.7074C>G (p.Tyr2358Ter)
n.8945C>G
c.7263C>G (p.Tyr2421Ter)
c.7233C>G (p.Tyr2411Ter)
c.7185C>G (p.Tyr2395Ter)
c.7152C>G (p.Tyr2384Ter)
c.7122C>G (p.Tyr2374Ter)
c.7119C>G (p.Tyr2373Ter)
c.7071C>G (p.Tyr2357Ter)
c.7035C>G (p.Tyr2345Ter)
c.7032C>G (p.Tyr2344Ter)
c.6987C>G (p.Tyr2329Ter)
n.7652C>G
 dbSNP
Xg.77508477G>TCA413704200ATRXc.7353C>A (p.Tyr2451Ter)
c.2451C>A (p.Tyr817Ter)
c.7239C>A (p.Tyr2413Ter)
c.*6981C>A (n.*6981C>A)
n.5673C>A
c.7350C>A (p.Tyr2450Ter)
c.7266C>A (p.Tyr2422Ter)
c.7236C>A (p.Tyr2412Ter)
c.7188C>A (p.Tyr2396Ter)
c.7149C>A (p.Tyr2383Ter)
c.7074C>A (p.Tyr2358Ter)
n.8945C>A
c.7263C>A (p.Tyr2421Ter)
c.7233C>A (p.Tyr2411Ter)
c.7185C>A (p.Tyr2395Ter)
c.7152C>A (p.Tyr2384Ter)
c.7122C>A (p.Tyr2374Ter)
c.7119C>A (p.Tyr2373Ter)
c.7071C>A (p.Tyr2357Ter)
c.7035C>A (p.Tyr2345Ter)
c.7032C>A (p.Tyr2344Ter)
c.6987C>A (p.Tyr2329Ter)
n.7652C>A
 dbSNP
Xg.77508478T>ACA413704205ATRXc.7352A>T (p.Tyr2451Phe)
c.2450A>T (p.Tyr817Phe)
c.7238A>T (p.Tyr2413Phe)
c.*6980A>T (n.*6980A>T)
n.5672A>T
c.7349A>T (p.Tyr2450Phe)
c.7265A>T (p.Tyr2422Phe)
c.7235A>T (p.Tyr2412Phe)
c.7187A>T (p.Tyr2396Phe)
c.7148A>T (p.Tyr2383Phe)
c.7073A>T (p.Tyr2358Phe)
n.8944A>T
c.7262A>T (p.Tyr2421Phe)
c.7232A>T (p.Tyr2411Phe)
c.7184A>T (p.Tyr2395Phe)
c.7151A>T (p.Tyr2384Phe)
c.7121A>T (p.Tyr2374Phe)
c.7118A>T (p.Tyr2373Phe)
c.7070A>T (p.Tyr2357Phe)
c.7034A>T (p.Tyr2345Phe)
c.7031A>T (p.Tyr2344Phe)
c.6986A>T (p.Tyr2329Phe)
n.7651A>T
 dbSNP
Xg.77508478T>CCA413704209ATRXc.7352A>G (p.Tyr2451Cys)
c.2450A>G (p.Tyr817Cys)
c.7238A>G (p.Tyr2413Cys)
c.*6980A>G (n.*6980A>G)
n.5672A>G
c.7349A>G (p.Tyr2450Cys)
c.7265A>G (p.Tyr2422Cys)
c.7235A>G (p.Tyr2412Cys)
c.7187A>G (p.Tyr2396Cys)
c.7148A>G (p.Tyr2383Cys)
c.7073A>G (p.Tyr2358Cys)
n.8944A>G
c.7262A>G (p.Tyr2421Cys)
c.7232A>G (p.Tyr2411Cys)
c.7184A>G (p.Tyr2395Cys)
c.7151A>G (p.Tyr2384Cys)
c.7121A>G (p.Tyr2374Cys)
c.7118A>G (p.Tyr2373Cys)
c.7070A>G (p.Tyr2357Cys)
c.7034A>G (p.Tyr2345Cys)
c.7031A>G (p.Tyr2344Cys)
c.6986A>G (p.Tyr2329Cys)
n.7651A>G
Xg.77508478T>GCA413704216ATRXc.7352A>C (p.Tyr2451Ser)
c.2450A>C (p.Tyr817Ser)
c.7238A>C (p.Tyr2413Ser)
c.*6980A>C (n.*6980A>C)
n.5672A>C
c.7349A>C (p.Tyr2450Ser)
c.7265A>C (p.Tyr2422Ser)
c.7235A>C (p.Tyr2412Ser)
c.7187A>C (p.Tyr2396Ser)
c.7148A>C (p.Tyr2383Ser)
c.7073A>C (p.Tyr2358Ser)
n.8944A>C
c.7262A>C (p.Tyr2421Ser)
c.7232A>C (p.Tyr2411Ser)
c.7184A>C (p.Tyr2395Ser)
c.7151A>C (p.Tyr2384Ser)
c.7121A>C (p.Tyr2374Ser)
c.7118A>C (p.Tyr2373Ser)
c.7070A>C (p.Tyr2357Ser)
c.7034A>C (p.Tyr2345Ser)
c.7031A>C (p.Tyr2344Ser)
c.6986A>C (p.Tyr2329Ser)
n.7651A>C
 dbSNP
Xg.77508479A>CCA413704220ATRXc.7351T>G (p.Tyr2451Asp)
c.2449T>G (p.Tyr817Asp)
c.7237T>G (p.Tyr2413Asp)
c.*6979T>G (n.*6979T>G)
n.5671T>G
c.7348T>G (p.Tyr2450Asp)
c.7264T>G (p.Tyr2422Asp)
c.7234T>G (p.Tyr2412Asp)
c.7186T>G (p.Tyr2396Asp)
c.7147T>G (p.Tyr2383Asp)
c.7072T>G (p.Tyr2358Asp)
n.8943T>G
c.7261T>G (p.Tyr2421Asp)
c.7231T>G (p.Tyr2411Asp)
c.7183T>G (p.Tyr2395Asp)
c.7150T>G (p.Tyr2384Asp)
c.7120T>G (p.Tyr2374Asp)
c.7117T>G (p.Tyr2373Asp)
c.7069T>G (p.Tyr2357Asp)
c.7033T>G (p.Tyr2345Asp)
c.7030T>G (p.Tyr2344Asp)
c.6985T>G (p.Tyr2329Asp)
n.7650T>G
Xg.77508479A>GCA413704217ATRXc.7351T>C (p.Tyr2451His)
c.2449T>C (p.Tyr817His)
c.7237T>C (p.Tyr2413His)
c.*6979T>C (n.*6979T>C)
n.5671T>C
c.7348T>C (p.Tyr2450His)
c.7264T>C (p.Tyr2422His)
c.7234T>C (p.Tyr2412His)
c.7186T>C (p.Tyr2396His)
c.7147T>C (p.Tyr2383His)
c.7072T>C (p.Tyr2358His)
n.8943T>C
c.7261T>C (p.Tyr2421His)
c.7231T>C (p.Tyr2411His)
c.7183T>C (p.Tyr2395His)
c.7150T>C (p.Tyr2384His)
c.7120T>C (p.Tyr2374His)
c.7117T>C (p.Tyr2373His)
c.7069T>C (p.Tyr2357His)
c.7033T>C (p.Tyr2345His)
c.7030T>C (p.Tyr2344His)
c.6985T>C (p.Tyr2329His)
n.7650T>C
Xg.77508479A>TCA413704218ATRXc.7351T>A (p.Tyr2451Asn)
c.2449T>A (p.Tyr817Asn)
c.7237T>A (p.Tyr2413Asn)
c.*6979T>A (n.*6979T>A)
n.5671T>A
c.7348T>A (p.Tyr2450Asn)
c.7264T>A (p.Tyr2422Asn)
c.7234T>A (p.Tyr2412Asn)
c.7186T>A (p.Tyr2396Asn)
c.7147T>A (p.Tyr2383Asn)
c.7072T>A (p.Tyr2358Asn)
n.8943T>A
c.7261T>A (p.Tyr2421Asn)
c.7231T>A (p.Tyr2411Asn)
c.7183T>A (p.Tyr2395Asn)
c.7150T>A (p.Tyr2384Asn)
c.7120T>A (p.Tyr2374Asn)
c.7117T>A (p.Tyr2373Asn)
c.7069T>A (p.Tyr2357Asn)
c.7033T>A (p.Tyr2345Asn)
c.7030T>A (p.Tyr2344Asn)
c.6985T>A (p.Tyr2329Asn)
n.7650T>A
 dbSNP
Xg.77508480G>ACA517374091ATRXc.7350C>T (p.Asn2450=)
c.2448C>T (p.Asn816=)
c.7236C>T (p.Asn2412=)
c.*6978C>T (n.*6978C>T)
n.5670C>T
c.7347C>T (p.Asn2449=)
c.7263C>T (p.Asn2421=)
c.7233C>T (p.Asn2411=)
c.7185C>T (p.Asn2395=)
c.7146C>T (p.Asn2382=)
c.7071C>T (p.Asn2357=)
n.8942C>T
c.7260C>T (p.Asn2420=)
c.7230C>T (p.Asn2410=)
c.7182C>T (p.Asn2394=)
c.7149C>T (p.Asn2383=)
c.7119C>T (p.Asn2373=)
c.7116C>T (p.Asn2372=)
c.7068C>T (p.Asn2356=)
c.7032C>T (p.Asn2344=)
c.7029C>T (p.Asn2343=)
c.6984C>T (p.Asn2328=)
n.7649C>T
 ClinVar dbSNP gnomAD v4
Xg.77508480G>CCA413704223ATRXc.7350C>G (p.Asn2450Lys)
c.2448C>G (p.Asn816Lys)
c.7236C>G (p.Asn2412Lys)
c.*6978C>G (n.*6978C>G)
n.5670C>G
c.7347C>G (p.Asn2449Lys)
c.7263C>G (p.Asn2421Lys)
c.7233C>G (p.Asn2411Lys)
c.7185C>G (p.Asn2395Lys)
c.7146C>G (p.Asn2382Lys)
c.7071C>G (p.Asn2357Lys)
n.8942C>G
c.7260C>G (p.Asn2420Lys)
c.7230C>G (p.Asn2410Lys)
c.7182C>G (p.Asn2394Lys)
c.7149C>G (p.Asn2383Lys)
c.7119C>G (p.Asn2373Lys)
c.7116C>G (p.Asn2372Lys)
c.7068C>G (p.Asn2356Lys)
c.7032C>G (p.Asn2344Lys)
c.7029C>G (p.Asn2343Lys)
c.6984C>G (p.Asn2328Lys)
n.7649C>G
 ClinVar dbSNP
Xg.77508480G>TCA413704226ATRXc.7350C>A (p.Asn2450Lys)
c.2448C>A (p.Asn816Lys)
c.7236C>A (p.Asn2412Lys)
c.*6978C>A (n.*6978C>A)
n.5670C>A
c.7347C>A (p.Asn2449Lys)
c.7263C>A (p.Asn2421Lys)
c.7233C>A (p.Asn2411Lys)
c.7185C>A (p.Asn2395Lys)
c.7146C>A (p.Asn2382Lys)
c.7071C>A (p.Asn2357Lys)
n.8942C>A
c.7260C>A (p.Asn2420Lys)
c.7230C>A (p.Asn2410Lys)
c.7182C>A (p.Asn2394Lys)
c.7149C>A (p.Asn2383Lys)
c.7119C>A (p.Asn2373Lys)
c.7116C>A (p.Asn2372Lys)
c.7068C>A (p.Asn2356Lys)
c.7032C>A (p.Asn2344Lys)
c.7029C>A (p.Asn2343Lys)
c.6984C>A (p.Asn2328Lys)
n.7649C>A
Xg.77508481T>ACA413704229ATRXc.7349A>T (p.Asn2450Ile)
c.2447A>T (p.Asn816Ile)
c.7235A>T (p.Asn2412Ile)
c.*6977A>T (n.*6977A>T)
n.5669A>T
n.580A>T
c.7346A>T (p.Asn2449Ile)
c.7262A>T (p.Asn2421Ile)
c.7232A>T (p.Asn2411Ile)
c.7184A>T (p.Asn2395Ile)
c.7145A>T (p.Asn2382Ile)
c.7070A>T (p.Asn2357Ile)
n.8941A>T
c.7259A>T (p.Asn2420Ile)
c.7229A>T (p.Asn2410Ile)
c.7181A>T (p.Asn2394Ile)
c.7148A>T (p.Asn2383Ile)
c.7118A>T (p.Asn2373Ile)
c.7115A>T (p.Asn2372Ile)
c.7067A>T (p.Asn2356Ile)
c.7031A>T (p.Asn2344Ile)
c.7028A>T (p.Asn2343Ile)
c.6983A>T (p.Asn2328Ile)
n.7648A>T
Xg.77508481T>CCA10457392ATRXc.7349A>G (p.Asn2450Ser)
c.2447A>G (p.Asn816Ser)
c.7235A>G (p.Asn2412Ser)
c.*6977A>G (n.*6977A>G)
n.5669A>G
n.580A>G
c.7346A>G (p.Asn2449Ser)
c.7262A>G (p.Asn2421Ser)
c.7232A>G (p.Asn2411Ser)
c.7184A>G (p.Asn2395Ser)
c.7145A>G (p.Asn2382Ser)
c.7070A>G (p.Asn2357Ser)
n.8941A>G
c.7259A>G (p.Asn2420Ser)
c.7229A>G (p.Asn2410Ser)
c.7181A>G (p.Asn2394Ser)
c.7148A>G (p.Asn2383Ser)
c.7118A>G (p.Asn2373Ser)
c.7115A>G (p.Asn2372Ser)
c.7067A>G (p.Asn2356Ser)
c.7031A>G (p.Asn2344Ser)
c.7028A>G (p.Asn2343Ser)
c.6983A>G (p.Asn2328Ser)
n.7648A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77508481T>GCA413704234ATRXc.7349A>C (p.Asn2450Thr)
c.2447A>C (p.Asn816Thr)
c.7235A>C (p.Asn2412Thr)
c.*6977A>C (n.*6977A>C)
n.5669A>C
n.580A>C
c.7346A>C (p.Asn2449Thr)
c.7262A>C (p.Asn2421Thr)
c.7232A>C (p.Asn2411Thr)
c.7184A>C (p.Asn2395Thr)
c.7145A>C (p.Asn2382Thr)
c.7070A>C (p.Asn2357Thr)
n.8941A>C
c.7259A>C (p.Asn2420Thr)
c.7229A>C (p.Asn2410Thr)
c.7181A>C (p.Asn2394Thr)
c.7148A>C (p.Asn2383Thr)
c.7118A>C (p.Asn2373Thr)
c.7115A>C (p.Asn2372Thr)
c.7067A>C (p.Asn2356Thr)
c.7031A>C (p.Asn2344Thr)
c.7028A>C (p.Asn2343Thr)
c.6983A>C (p.Asn2328Thr)
n.7648A>C
Xg.77508481T=CA2438929050ATRXc.7349A= (p.Asn2450=)
c.2447A= (p.Asn816=)
c.7235A= (p.Asn2412=)
c.*6977A= (n.*6977A=)
n.5669A=
n.580A=
c.7346A= (p.Asn2449=)
c.7262A= (p.Asn2421=)
c.7232A= (p.Asn2411=)
c.7184A= (p.Asn2395=)
c.7145A= (p.Asn2382=)
c.7070A= (p.Asn2357=)
n.8941A=
c.7259A= (p.Asn2420=)
c.7229A= (p.Asn2410=)
c.7181A= (p.Asn2394=)
c.7148A= (p.Asn2383=)
c.7118A= (p.Asn2373=)
c.7115A= (p.Asn2372=)
c.7067A= (p.Asn2356=)
c.7031A= (p.Asn2344=)
c.7028A= (p.Asn2343=)
c.6983A= (p.Asn2328=)
n.7648A=
Xg.77508482T>ACA413704237ATRXc.7348A>T (p.Asn2450Tyr)
c.2446A>T (p.Asn816Tyr)
c.7234A>T (p.Asn2412Tyr)
c.*6976A>T (n.*6976A>T)
n.5668A>T
n.579A>T
c.7345A>T (p.Asn2449Tyr)
c.7261A>T (p.Asn2421Tyr)
c.7231A>T (p.Asn2411Tyr)
c.7183A>T (p.Asn2395Tyr)
c.7144A>T (p.Asn2382Tyr)
c.7069A>T (p.Asn2357Tyr)
n.8940A>T
c.7258A>T (p.Asn2420Tyr)
c.7228A>T (p.Asn2410Tyr)
c.7180A>T (p.Asn2394Tyr)
c.7147A>T (p.Asn2383Tyr)
c.7117A>T (p.Asn2373Tyr)
c.7114A>T (p.Asn2372Tyr)
c.7066A>T (p.Asn2356Tyr)
c.7030A>T (p.Asn2344Tyr)
c.7027A>T (p.Asn2343Tyr)
c.6982A>T (p.Asn2328Tyr)
n.7647A>T
Xg.77508482T>CCA413704240ATRXc.7348A>G (p.Asn2450Asp)
c.2446A>G (p.Asn816Asp)
c.7234A>G (p.Asn2412Asp)
c.*6976A>G (n.*6976A>G)
n.5668A>G
n.579A>G
c.7345A>G (p.Asn2449Asp)
c.7261A>G (p.Asn2421Asp)
c.7231A>G (p.Asn2411Asp)
c.7183A>G (p.Asn2395Asp)
c.7144A>G (p.Asn2382Asp)
c.7069A>G (p.Asn2357Asp)
n.8940A>G
c.7258A>G (p.Asn2420Asp)
c.7228A>G (p.Asn2410Asp)
c.7180A>G (p.Asn2394Asp)
c.7147A>G (p.Asn2383Asp)
c.7117A>G (p.Asn2373Asp)
c.7114A>G (p.Asn2372Asp)
c.7066A>G (p.Asn2356Asp)
c.7030A>G (p.Asn2344Asp)
c.7027A>G (p.Asn2343Asp)
c.6982A>G (p.Asn2328Asp)
n.7647A>G
Xg.77508482T>GCA413704242ATRXc.7348A>C (p.Asn2450His)
c.2446A>C (p.Asn816His)
c.7234A>C (p.Asn2412His)
c.*6976A>C (n.*6976A>C)
n.5668A>C
n.579A>C
c.7345A>C (p.Asn2449His)
c.7261A>C (p.Asn2421His)
c.7231A>C (p.Asn2411His)
c.7183A>C (p.Asn2395His)
c.7144A>C (p.Asn2382His)
c.7069A>C (p.Asn2357His)
n.8940A>C
c.7258A>C (p.Asn2420His)
c.7228A>C (p.Asn2410His)
c.7180A>C (p.Asn2394His)
c.7147A>C (p.Asn2383His)
c.7117A>C (p.Asn2373His)
c.7114A>C (p.Asn2372His)
c.7066A>C (p.Asn2356His)
c.7030A>C (p.Asn2344His)
c.7027A>C (p.Asn2343His)
c.6982A>C (p.Asn2328His)
n.7647A>C
Xg.77508483A>CCA517374095ATRXc.7347T>G (p.Ser2449=)
c.2445T>G (p.Ser815=)
c.7233T>G (p.Ser2411=)
c.*6975T>G (n.*6975T>G)
n.5667T>G
n.578T>G
c.7344T>G (p.Ser2448=)
c.7260T>G (p.Ser2420=)
c.7230T>G (p.Ser2410=)
c.7182T>G (p.Ser2394=)
c.7143T>G (p.Ser2381=)
c.7068T>G (p.Ser2356=)
n.8939T>G
c.7257T>G (p.Ser2419=)
c.7227T>G (p.Ser2409=)
c.7179T>G (p.Ser2393=)
c.7146T>G (p.Ser2382=)
c.7116T>G (p.Ser2372=)
c.7113T>G (p.Ser2371=)
c.7065T>G (p.Ser2355=)
c.7029T>G (p.Ser2343=)
c.7026T>G (p.Ser2342=)
c.6981T>G (p.Ser2327=)
n.7646T>G
 ClinVar dbSNP
Xg.77508483A>GCA517374097ATRXc.7347T>C (p.Ser2449=)
c.2445T>C (p.Ser815=)
c.7233T>C (p.Ser2411=)
c.*6975T>C (n.*6975T>C)
n.5667T>C
n.578T>C
c.7344T>C (p.Ser2448=)
c.7260T>C (p.Ser2420=)
c.7230T>C (p.Ser2410=)
c.7182T>C (p.Ser2394=)
c.7143T>C (p.Ser2381=)
c.7068T>C (p.Ser2356=)
n.8939T>C
c.7257T>C (p.Ser2419=)
c.7227T>C (p.Ser2409=)
c.7179T>C (p.Ser2393=)
c.7146T>C (p.Ser2382=)
c.7116T>C (p.Ser2372=)
c.7113T>C (p.Ser2371=)
c.7065T>C (p.Ser2355=)
c.7029T>C (p.Ser2343=)
c.7026T>C (p.Ser2342=)
c.6981T>C (p.Ser2327=)
n.7646T>C
Xg.77508483A>TCA517374096ATRXc.7347T>A (p.Ser2449=)
c.2445T>A (p.Ser815=)
c.7233T>A (p.Ser2411=)
c.*6975T>A (n.*6975T>A)
n.5667T>A
n.578T>A
c.7344T>A (p.Ser2448=)
c.7260T>A (p.Ser2420=)
c.7230T>A (p.Ser2410=)
c.7182T>A (p.Ser2394=)
c.7143T>A (p.Ser2381=)
c.7068T>A (p.Ser2356=)
n.8939T>A
c.7257T>A (p.Ser2419=)
c.7227T>A (p.Ser2409=)
c.7179T>A (p.Ser2393=)
c.7146T>A (p.Ser2382=)
c.7116T>A (p.Ser2372=)
c.7113T>A (p.Ser2371=)
c.7065T>A (p.Ser2355=)
c.7029T>A (p.Ser2343=)
c.7026T>A (p.Ser2342=)
c.6981T>A (p.Ser2327=)
n.7646T>A
 dbSNP
Xg.77508484G>ACA413704245ATRXc.7346C>T (p.Ser2449Phe)
c.2444C>T (p.Ser815Phe)
c.7232C>T (p.Ser2411Phe)
c.*6974C>T (n.*6974C>T)
n.5666C>T
n.577C>T
c.7343C>T (p.Ser2448Phe)
c.7259C>T (p.Ser2420Phe)
c.7229C>T (p.Ser2410Phe)
c.7181C>T (p.Ser2394Phe)
c.7142C>T (p.Ser2381Phe)
c.7067C>T (p.Ser2356Phe)
n.8938C>T
c.7256C>T (p.Ser2419Phe)
c.7226C>T (p.Ser2409Phe)
c.7178C>T (p.Ser2393Phe)
c.7145C>T (p.Ser2382Phe)
c.7115C>T (p.Ser2372Phe)
c.7112C>T (p.Ser2371Phe)
c.7064C>T (p.Ser2355Phe)
c.7028C>T (p.Ser2343Phe)
c.7025C>T (p.Ser2342Phe)
c.6980C>T (p.Ser2327Phe)
n.7645C>T
Xg.77508484G>CCA413704246ATRXc.7346C>G (p.Ser2449Cys)
c.2444C>G (p.Ser815Cys)
c.7232C>G (p.Ser2411Cys)
c.*6974C>G (n.*6974C>G)
n.5666C>G
n.577C>G
c.7343C>G (p.Ser2448Cys)
c.7259C>G (p.Ser2420Cys)
c.7229C>G (p.Ser2410Cys)
c.7181C>G (p.Ser2394Cys)
c.7142C>G (p.Ser2381Cys)
c.7067C>G (p.Ser2356Cys)
n.8938C>G
c.7256C>G (p.Ser2419Cys)
c.7226C>G (p.Ser2409Cys)
c.7178C>G (p.Ser2393Cys)
c.7145C>G (p.Ser2382Cys)
c.7115C>G (p.Ser2372Cys)
c.7112C>G (p.Ser2371Cys)
c.7064C>G (p.Ser2355Cys)
c.7028C>G (p.Ser2343Cys)
c.7025C>G (p.Ser2342Cys)
c.6980C>G (p.Ser2327Cys)
n.7645C>G
 dbSNP
Xg.77508484G>TCA413704248ATRXc.7346C>A (p.Ser2449Tyr)
c.2444C>A (p.Ser815Tyr)
c.7232C>A (p.Ser2411Tyr)
c.*6974C>A (n.*6974C>A)
n.5666C>A
n.577C>A
c.7343C>A (p.Ser2448Tyr)
c.7259C>A (p.Ser2420Tyr)
c.7229C>A (p.Ser2410Tyr)
c.7181C>A (p.Ser2394Tyr)
c.7142C>A (p.Ser2381Tyr)
c.7067C>A (p.Ser2356Tyr)
n.8938C>A
c.7256C>A (p.Ser2419Tyr)
c.7226C>A (p.Ser2409Tyr)
c.7178C>A (p.Ser2393Tyr)
c.7145C>A (p.Ser2382Tyr)
c.7115C>A (p.Ser2372Tyr)
c.7112C>A (p.Ser2371Tyr)
c.7064C>A (p.Ser2355Tyr)
c.7028C>A (p.Ser2343Tyr)
c.7025C>A (p.Ser2342Tyr)
c.6980C>A (p.Ser2327Tyr)
n.7645C>A
Xg.77508485A>CCA413704251ATRXc.7345T>G (p.Ser2449Ala)
c.2443T>G (p.Ser815Ala)
c.7231T>G (p.Ser2411Ala)
c.*6973T>G (n.*6973T>G)
n.5665T>G
n.576T>G
c.7342T>G (p.Ser2448Ala)
c.7258T>G (p.Ser2420Ala)
c.7228T>G (p.Ser2410Ala)
c.7180T>G (p.Ser2394Ala)
c.7141T>G (p.Ser2381Ala)
c.7066T>G (p.Ser2356Ala)
n.8937T>G
c.7255T>G (p.Ser2419Ala)
c.7225T>G (p.Ser2409Ala)
c.7177T>G (p.Ser2393Ala)
c.7144T>G (p.Ser2382Ala)
c.7114T>G (p.Ser2372Ala)
c.7111T>G (p.Ser2371Ala)
c.7063T>G (p.Ser2355Ala)
c.7027T>G (p.Ser2343Ala)
c.7024T>G (p.Ser2342Ala)
c.6979T>G (p.Ser2327Ala)
n.7644T>G
Xg.77508485A>GCA413704259ATRXc.7345T>C (p.Ser2449Pro)
c.2443T>C (p.Ser815Pro)
c.7231T>C (p.Ser2411Pro)
c.*6973T>C (n.*6973T>C)
n.5665T>C
n.576T>C
c.7342T>C (p.Ser2448Pro)
c.7258T>C (p.Ser2420Pro)
c.7228T>C (p.Ser2410Pro)
c.7180T>C (p.Ser2394Pro)
c.7141T>C (p.Ser2381Pro)
c.7066T>C (p.Ser2356Pro)
n.8937T>C
c.7255T>C (p.Ser2419Pro)
c.7225T>C (p.Ser2409Pro)
c.7177T>C (p.Ser2393Pro)
c.7144T>C (p.Ser2382Pro)
c.7114T>C (p.Ser2372Pro)
c.7111T>C (p.Ser2371Pro)
c.7063T>C (p.Ser2355Pro)
c.7027T>C (p.Ser2343Pro)
c.7024T>C (p.Ser2342Pro)
c.6979T>C (p.Ser2327Pro)
n.7644T>C
Xg.77508485A>TCA413704262ATRXc.7345T>A (p.Ser2449Thr)
c.2443T>A (p.Ser815Thr)
c.7231T>A (p.Ser2411Thr)
c.*6973T>A (n.*6973T>A)
n.5665T>A
n.576T>A
c.7342T>A (p.Ser2448Thr)
c.7258T>A (p.Ser2420Thr)
c.7228T>A (p.Ser2410Thr)
c.7180T>A (p.Ser2394Thr)
c.7141T>A (p.Ser2381Thr)
c.7066T>A (p.Ser2356Thr)
n.8937T>A
c.7255T>A (p.Ser2419Thr)
c.7225T>A (p.Ser2409Thr)
c.7177T>A (p.Ser2393Thr)
c.7144T>A (p.Ser2382Thr)
c.7114T>A (p.Ser2372Thr)
c.7111T>A (p.Ser2371Thr)
c.7063T>A (p.Ser2355Thr)
c.7027T>A (p.Ser2343Thr)
c.7024T>A (p.Ser2342Thr)
c.6979T>A (p.Ser2327Thr)
n.7644T>A
Xg.77508486A>CCA517374101ATRXc.7344T>G (p.Pro2448=)
c.2442T>G (p.Pro814=)
c.7230T>G (p.Pro2410=)
c.*6972T>G (n.*6972T>G)
n.5664T>G
n.575T>G
c.7341T>G (p.Pro2447=)
c.7257T>G (p.Pro2419=)
c.7227T>G (p.Pro2409=)
c.7179T>G (p.Pro2393=)
c.7140T>G (p.Pro2380=)
c.7065T>G (p.Pro2355=)
n.8936T>G
c.7254T>G (p.Pro2418=)
c.7224T>G (p.Pro2408=)
c.7176T>G (p.Pro2392=)
c.7143T>G (p.Pro2381=)
c.7113T>G (p.Pro2371=)
c.7110T>G (p.Pro2370=)
c.7062T>G (p.Pro2354=)
c.7026T>G (p.Pro2342=)
c.7023T>G (p.Pro2341=)
c.6978T>G (p.Pro2326=)
n.7643T>G
 ClinVar
Xg.77508486A>GCA517374102ATRXc.7344T>C (p.Pro2448=)
c.2442T>C (p.Pro814=)
c.7230T>C (p.Pro2410=)
c.*6972T>C (n.*6972T>C)
n.5664T>C
n.575T>C
c.7341T>C (p.Pro2447=)
c.7257T>C (p.Pro2419=)
c.7227T>C (p.Pro2409=)
c.7179T>C (p.Pro2393=)
c.7140T>C (p.Pro2380=)
c.7065T>C (p.Pro2355=)
n.8936T>C
c.7254T>C (p.Pro2418=)
c.7224T>C (p.Pro2408=)
c.7176T>C (p.Pro2392=)
c.7143T>C (p.Pro2381=)
c.7113T>C (p.Pro2371=)
c.7110T>C (p.Pro2370=)
c.7062T>C (p.Pro2354=)
c.7026T>C (p.Pro2342=)
c.7023T>C (p.Pro2341=)
c.6978T>C (p.Pro2326=)
n.7643T>C
Xg.77508486A>TCA517374103ATRXc.7344T>A (p.Pro2448=)
c.2442T>A (p.Pro814=)
c.7230T>A (p.Pro2410=)
c.*6972T>A (n.*6972T>A)
n.5664T>A
n.575T>A
c.7341T>A (p.Pro2447=)
c.7257T>A (p.Pro2419=)
c.7227T>A (p.Pro2409=)
c.7179T>A (p.Pro2393=)
c.7140T>A (p.Pro2380=)
c.7065T>A (p.Pro2355=)
n.8936T>A
c.7254T>A (p.Pro2418=)
c.7224T>A (p.Pro2408=)
c.7176T>A (p.Pro2392=)
c.7143T>A (p.Pro2381=)
c.7113T>A (p.Pro2371=)
c.7110T>A (p.Pro2370=)
c.7062T>A (p.Pro2354=)
c.7026T>A (p.Pro2342=)
c.7023T>A (p.Pro2341=)
c.6978T>A (p.Pro2326=)
n.7643T>A
Xg.77508487G>ACA413704272ATRXc.7343C>T (p.Pro2448Leu)
c.2441C>T (p.Pro814Leu)
c.7229C>T (p.Pro2410Leu)
c.*6971C>T (n.*6971C>T)
n.5663C>T
n.574C>T
c.7340C>T (p.Pro2447Leu)
c.7256C>T (p.Pro2419Leu)
c.7226C>T (p.Pro2409Leu)
c.7178C>T (p.Pro2393Leu)
c.7139C>T (p.Pro2380Leu)
c.7064C>T (p.Pro2355Leu)
n.8935C>T
c.7253C>T (p.Pro2418Leu)
c.7223C>T (p.Pro2408Leu)
c.7175C>T (p.Pro2392Leu)
c.7142C>T (p.Pro2381Leu)
c.7112C>T (p.Pro2371Leu)
c.7109C>T (p.Pro2370Leu)
c.7061C>T (p.Pro2354Leu)
c.7025C>T (p.Pro2342Leu)
c.7022C>T (p.Pro2341Leu)
c.6977C>T (p.Pro2326Leu)
n.7642C>T
 dbSNP
Xg.77508487G>CCA413704268ATRXc.7343C>G (p.Pro2448Arg)
c.2441C>G (p.Pro814Arg)
c.7229C>G (p.Pro2410Arg)
c.*6971C>G (n.*6971C>G)
n.5663C>G
n.574C>G
c.7340C>G (p.Pro2447Arg)
c.7256C>G (p.Pro2419Arg)
c.7226C>G (p.Pro2409Arg)
c.7178C>G (p.Pro2393Arg)
c.7139C>G (p.Pro2380Arg)
c.7064C>G (p.Pro2355Arg)
n.8935C>G
c.7253C>G (p.Pro2418Arg)
c.7223C>G (p.Pro2408Arg)
c.7175C>G (p.Pro2392Arg)
c.7142C>G (p.Pro2381Arg)
c.7112C>G (p.Pro2371Arg)
c.7109C>G (p.Pro2370Arg)
c.7061C>G (p.Pro2354Arg)
c.7025C>G (p.Pro2342Arg)
c.7022C>G (p.Pro2341Arg)
c.6977C>G (p.Pro2326Arg)
n.7642C>G
 dbSNP
Xg.77508487G>TCA413704266ATRXc.7343C>A (p.Pro2448His)
c.2441C>A (p.Pro814His)
c.7229C>A (p.Pro2410His)
c.*6971C>A (n.*6971C>A)
n.5663C>A
n.574C>A
c.7340C>A (p.Pro2447His)
c.7256C>A (p.Pro2419His)
c.7226C>A (p.Pro2409His)
c.7178C>A (p.Pro2393His)
c.7139C>A (p.Pro2380His)
c.7064C>A (p.Pro2355His)
n.8935C>A
c.7253C>A (p.Pro2418His)
c.7223C>A (p.Pro2408His)
c.7175C>A (p.Pro2392His)
c.7142C>A (p.Pro2381His)
c.7112C>A (p.Pro2371His)
c.7109C>A (p.Pro2370His)
c.7061C>A (p.Pro2354His)
c.7025C>A (p.Pro2342His)
c.7022C>A (p.Pro2341His)
c.6977C>A (p.Pro2326His)
n.7642C>A
 COSMIC COSMIC
Xg.77508488G>ACA413704275ATRXc.7342C>T (p.Pro2448Ser)
c.2440C>T (p.Pro814Ser)
c.7228C>T (p.Pro2410Ser)
c.*6970C>T (n.*6970C>T)
n.5662C>T
n.573C>T
c.7339C>T (p.Pro2447Ser)
c.7255C>T (p.Pro2419Ser)
c.7225C>T (p.Pro2409Ser)
c.7177C>T (p.Pro2393Ser)
c.7138C>T (p.Pro2380Ser)
c.7063C>T (p.Pro2355Ser)
n.8934C>T
c.7252C>T (p.Pro2418Ser)
c.7222C>T (p.Pro2408Ser)
c.7174C>T (p.Pro2392Ser)
c.7141C>T (p.Pro2381Ser)
c.7111C>T (p.Pro2371Ser)
c.7108C>T (p.Pro2370Ser)
c.7060C>T (p.Pro2354Ser)
c.7024C>T (p.Pro2342Ser)
c.7021C>T (p.Pro2341Ser)
c.6976C>T (p.Pro2326Ser)
n.7641C>T
 dbSNP
Xg.77508488G>CCA413704278ATRXc.7342C>G (p.Pro2448Ala)
c.2440C>G (p.Pro814Ala)
c.7228C>G (p.Pro2410Ala)
c.*6970C>G (n.*6970C>G)
n.5662C>G
n.573C>G
c.7339C>G (p.Pro2447Ala)
c.7255C>G (p.Pro2419Ala)
c.7225C>G (p.Pro2409Ala)
c.7177C>G (p.Pro2393Ala)
c.7138C>G (p.Pro2380Ala)
c.7063C>G (p.Pro2355Ala)
n.8934C>G
c.7252C>G (p.Pro2418Ala)
c.7222C>G (p.Pro2408Ala)
c.7174C>G (p.Pro2392Ala)
c.7141C>G (p.Pro2381Ala)
c.7111C>G (p.Pro2371Ala)
c.7108C>G (p.Pro2370Ala)
c.7060C>G (p.Pro2354Ala)
c.7024C>G (p.Pro2342Ala)
c.7021C>G (p.Pro2341Ala)
c.6976C>G (p.Pro2326Ala)
n.7641C>G
 dbSNP
Xg.77508488G>TCA413704280ATRXc.7342C>A (p.Pro2448Thr)
c.2440C>A (p.Pro814Thr)
c.7228C>A (p.Pro2410Thr)
c.*6970C>A (n.*6970C>A)
n.5662C>A
n.573C>A
c.7339C>A (p.Pro2447Thr)
c.7255C>A (p.Pro2419Thr)
c.7225C>A (p.Pro2409Thr)
c.7177C>A (p.Pro2393Thr)
c.7138C>A (p.Pro2380Thr)
c.7063C>A (p.Pro2355Thr)
n.8934C>A
c.7252C>A (p.Pro2418Thr)
c.7222C>A (p.Pro2408Thr)
c.7174C>A (p.Pro2392Thr)
c.7141C>A (p.Pro2381Thr)
c.7111C>A (p.Pro2371Thr)
c.7108C>A (p.Pro2370Thr)
c.7060C>A (p.Pro2354Thr)
c.7024C>A (p.Pro2342Thr)
c.7021C>A (p.Pro2341Thr)
c.6976C>A (p.Pro2326Thr)
n.7641C>A
Xg.77508489A>CCA413704285ATRXc.7341T>G (p.Asn2447Lys)
c.2439T>G (p.Asn813Lys)
c.7227T>G (p.Asn2409Lys)
c.*6969T>G (n.*6969T>G)
n.5661T>G
n.572T>G
c.7338T>G (p.Asn2446Lys)
c.7254T>G (p.Asn2418Lys)
c.7224T>G (p.Asn2408Lys)
c.7176T>G (p.Asn2392Lys)
c.7137T>G (p.Asn2379Lys)
c.7062T>G (p.Asn2354Lys)
n.8933T>G
c.7251T>G (p.Asn2417Lys)
c.7221T>G (p.Asn2407Lys)
c.7173T>G (p.Asn2391Lys)
c.7140T>G (p.Asn2380Lys)
c.7110T>G (p.Asn2370Lys)
c.7107T>G (p.Asn2369Lys)
c.7059T>G (p.Asn2353Lys)
c.7023T>G (p.Asn2341Lys)
c.7020T>G (p.Asn2340Lys)
c.6975T>G (p.Asn2325Lys)
n.7640T>G
Xg.77508489A>GCA517374106ATRXc.7341T>C (p.Asn2447=)
c.2439T>C (p.Asn813=)
c.7227T>C (p.Asn2409=)
c.*6969T>C (n.*6969T>C)
n.5661T>C
n.572T>C
c.7338T>C (p.Asn2446=)
c.7254T>C (p.Asn2418=)
c.7224T>C (p.Asn2408=)
c.7176T>C (p.Asn2392=)
c.7137T>C (p.Asn2379=)
c.7062T>C (p.Asn2354=)
n.8933T>C
c.7251T>C (p.Asn2417=)
c.7221T>C (p.Asn2407=)
c.7173T>C (p.Asn2391=)
c.7140T>C (p.Asn2380=)
c.7110T>C (p.Asn2370=)
c.7107T>C (p.Asn2369=)
c.7059T>C (p.Asn2353=)
c.7023T>C (p.Asn2341=)
c.7020T>C (p.Asn2340=)
c.6975T>C (p.Asn2325=)
n.7640T>C
Xg.77508489A>TCA413704288ATRXc.7341T>A (p.Asn2447Lys)
c.2439T>A (p.Asn813Lys)
c.7227T>A (p.Asn2409Lys)
c.*6969T>A (n.*6969T>A)
n.5661T>A
n.572T>A
c.7338T>A (p.Asn2446Lys)
c.7254T>A (p.Asn2418Lys)
c.7224T>A (p.Asn2408Lys)
c.7176T>A (p.Asn2392Lys)
c.7137T>A (p.Asn2379Lys)
c.7062T>A (p.Asn2354Lys)
n.8933T>A
c.7251T>A (p.Asn2417Lys)
c.7221T>A (p.Asn2407Lys)
c.7173T>A (p.Asn2391Lys)
c.7140T>A (p.Asn2380Lys)
c.7110T>A (p.Asn2370Lys)
c.7107T>A (p.Asn2369Lys)
c.7059T>A (p.Asn2353Lys)
c.7023T>A (p.Asn2341Lys)
c.7020T>A (p.Asn2340Lys)
c.6975T>A (p.Asn2325Lys)
n.7640T>A
 dbSNP
Xg.77508490T>ACA413704291ATRXc.7340A>T (p.Asn2447Ile)
c.2438A>T (p.Asn813Ile)
c.7226A>T (p.Asn2409Ile)
c.*6968A>T (n.*6968A>T)
n.5660A>T
n.571A>T
c.7337A>T (p.Asn2446Ile)
c.7253A>T (p.Asn2418Ile)
c.7223A>T (p.Asn2408Ile)
c.7175A>T (p.Asn2392Ile)
c.7136A>T (p.Asn2379Ile)
c.7061A>T (p.Asn2354Ile)
n.8932A>T
c.7250A>T (p.Asn2417Ile)
c.7220A>T (p.Asn2407Ile)
c.7172A>T (p.Asn2391Ile)
c.7139A>T (p.Asn2380Ile)
c.7109A>T (p.Asn2370Ile)
c.7106A>T (p.Asn2369Ile)
c.7058A>T (p.Asn2353Ile)
c.7022A>T (p.Asn2341Ile)
c.7019A>T (p.Asn2340Ile)
c.6974A>T (p.Asn2325Ile)
n.7639A>T
Xg.77508490T>CCA413704293ATRXc.7340A>G (p.Asn2447Ser)
c.2438A>G (p.Asn813Ser)
c.7226A>G (p.Asn2409Ser)
c.*6968A>G (n.*6968A>G)
n.5660A>G
n.571A>G
c.7337A>G (p.Asn2446Ser)
c.7253A>G (p.Asn2418Ser)
c.7223A>G (p.Asn2408Ser)
c.7175A>G (p.Asn2392Ser)
c.7136A>G (p.Asn2379Ser)
c.7061A>G (p.Asn2354Ser)
n.8932A>G
c.7250A>G (p.Asn2417Ser)
c.7220A>G (p.Asn2407Ser)
c.7172A>G (p.Asn2391Ser)
c.7139A>G (p.Asn2380Ser)
c.7109A>G (p.Asn2370Ser)
c.7106A>G (p.Asn2369Ser)
c.7058A>G (p.Asn2353Ser)
c.7022A>G (p.Asn2341Ser)
c.7019A>G (p.Asn2340Ser)
c.6974A>G (p.Asn2325Ser)
n.7639A>G
 dbSNP
Xg.77508490T>GCA413704296ATRXc.7340A>C (p.Asn2447Thr)
c.2438A>C (p.Asn813Thr)
c.7226A>C (p.Asn2409Thr)
c.*6968A>C (n.*6968A>C)
n.5660A>C
n.571A>C
c.7337A>C (p.Asn2446Thr)
c.7253A>C (p.Asn2418Thr)
c.7223A>C (p.Asn2408Thr)
c.7175A>C (p.Asn2392Thr)
c.7136A>C (p.Asn2379Thr)
c.7061A>C (p.Asn2354Thr)
n.8932A>C
c.7250A>C (p.Asn2417Thr)
c.7220A>C (p.Asn2407Thr)
c.7172A>C (p.Asn2391Thr)
c.7139A>C (p.Asn2380Thr)
c.7109A>C (p.Asn2370Thr)
c.7106A>C (p.Asn2369Thr)
c.7058A>C (p.Asn2353Thr)
c.7022A>C (p.Asn2341Thr)
c.7019A>C (p.Asn2340Thr)
c.6974A>C (p.Asn2325Thr)
n.7639A>C
 COSMIC COSMIC
Xg.77508491T>ACA413704300ATRXc.7339A>T (p.Asn2447Tyr)
c.2437A>T (p.Asn813Tyr)
c.7225A>T (p.Asn2409Tyr)
c.*6967A>T (n.*6967A>T)
n.5659A>T
n.570A>T
c.7336A>T (p.Asn2446Tyr)
c.7252A>T (p.Asn2418Tyr)
c.7222A>T (p.Asn2408Tyr)
c.7174A>T (p.Asn2392Tyr)
c.7135A>T (p.Asn2379Tyr)
c.7060A>T (p.Asn2354Tyr)
n.8931A>T
c.7249A>T (p.Asn2417Tyr)
c.7219A>T (p.Asn2407Tyr)
c.7171A>T (p.Asn2391Tyr)
c.7138A>T (p.Asn2380Tyr)
c.7108A>T (p.Asn2370Tyr)
c.7105A>T (p.Asn2369Tyr)
c.7057A>T (p.Asn2353Tyr)
c.7021A>T (p.Asn2341Tyr)
c.7018A>T (p.Asn2340Tyr)
c.6973A>T (p.Asn2325Tyr)
n.7638A>T
 dbSNP
Xg.77508491T>CCA413704303ATRXc.7339A>G (p.Asn2447Asp)
c.2437A>G (p.Asn813Asp)
c.7225A>G (p.Asn2409Asp)
c.*6967A>G (n.*6967A>G)
n.5659A>G
n.570A>G
c.7336A>G (p.Asn2446Asp)
c.7252A>G (p.Asn2418Asp)
c.7222A>G (p.Asn2408Asp)
c.7174A>G (p.Asn2392Asp)
c.7135A>G (p.Asn2379Asp)
c.7060A>G (p.Asn2354Asp)
n.8931A>G
c.7249A>G (p.Asn2417Asp)
c.7219A>G (p.Asn2407Asp)
c.7171A>G (p.Asn2391Asp)
c.7138A>G (p.Asn2380Asp)
c.7108A>G (p.Asn2370Asp)
c.7105A>G (p.Asn2369Asp)
c.7057A>G (p.Asn2353Asp)
c.7021A>G (p.Asn2341Asp)
c.7018A>G (p.Asn2340Asp)
c.6973A>G (p.Asn2325Asp)
n.7638A>G
Xg.77508491T>GCA413704307ATRXc.7339A>C (p.Asn2447His)
c.2437A>C (p.Asn813His)
c.7225A>C (p.Asn2409His)
c.*6967A>C (n.*6967A>C)
n.5659A>C
n.570A>C
c.7336A>C (p.Asn2446His)
c.7252A>C (p.Asn2418His)
c.7222A>C (p.Asn2408His)
c.7174A>C (p.Asn2392His)
c.7135A>C (p.Asn2379His)
c.7060A>C (p.Asn2354His)
n.8931A>C
c.7249A>C (p.Asn2417His)
c.7219A>C (p.Asn2407His)
c.7171A>C (p.Asn2391His)
c.7138A>C (p.Asn2380His)
c.7108A>C (p.Asn2370His)
c.7105A>C (p.Asn2369His)
c.7057A>C (p.Asn2353His)
c.7021A>C (p.Asn2341His)
c.7018A>C (p.Asn2340His)
c.6973A>C (p.Asn2325His)
n.7638A>C
Xg.77508492C>ACA413704308ATRXc.7338G>T (p.Met2446Ile)
c.2436G>T (p.Met812Ile)
c.7224G>T (p.Met2408Ile)
c.*6966G>T (n.*6966G>T)
n.5658G>T
n.569G>T
c.7335G>T (p.Met2445Ile)
c.7251G>T (p.Met2417Ile)
c.7221G>T (p.Met2407Ile)
c.7173G>T (p.Met2391Ile)
c.7134G>T (p.Met2378Ile)
c.7059G>T (p.Met2353Ile)
n.8930G>T
c.7248G>T (p.Met2416Ile)
c.7218G>T (p.Met2406Ile)
c.7170G>T (p.Met2390Ile)
c.7137G>T (p.Met2379Ile)
c.7107G>T (p.Met2369Ile)
c.7104G>T (p.Met2368Ile)
c.7056G>T (p.Met2352Ile)
c.7020G>T (p.Met2340Ile)
c.7017G>T (p.Met2339Ile)
c.6972G>T (p.Met2324Ile)
n.7637G>T
Xg.77508492C>GCA413704309ATRXc.7338G>C (p.Met2446Ile)
c.2436G>C (p.Met812Ile)
c.7224G>C (p.Met2408Ile)
c.*6966G>C (n.*6966G>C)
n.5658G>C
n.569G>C
c.7335G>C (p.Met2445Ile)
c.7251G>C (p.Met2417Ile)
c.7221G>C (p.Met2407Ile)
c.7173G>C (p.Met2391Ile)
c.7134G>C (p.Met2378Ile)
c.7059G>C (p.Met2353Ile)
n.8930G>C
c.7248G>C (p.Met2416Ile)
c.7218G>C (p.Met2406Ile)
c.7170G>C (p.Met2390Ile)
c.7137G>C (p.Met2379Ile)
c.7107G>C (p.Met2369Ile)
c.7104G>C (p.Met2368Ile)
c.7056G>C (p.Met2352Ile)
c.7020G>C (p.Met2340Ile)
c.7017G>C (p.Met2339Ile)
c.6972G>C (p.Met2324Ile)
n.7637G>C
 dbSNP
Xg.77508492C>TCA413704311ATRXc.7338G>A (p.Met2446Ile)
c.2436G>A (p.Met812Ile)
c.7224G>A (p.Met2408Ile)
c.*6966G>A (n.*6966G>A)
n.5658G>A
n.569G>A
c.7335G>A (p.Met2445Ile)
c.7251G>A (p.Met2417Ile)
c.7221G>A (p.Met2407Ile)
c.7173G>A (p.Met2391Ile)
c.7134G>A (p.Met2378Ile)
c.7059G>A (p.Met2353Ile)
n.8930G>A
c.7248G>A (p.Met2416Ile)
c.7218G>A (p.Met2406Ile)
c.7170G>A (p.Met2390Ile)
c.7137G>A (p.Met2379Ile)
c.7107G>A (p.Met2369Ile)
c.7104G>A (p.Met2368Ile)
c.7056G>A (p.Met2352Ile)
c.7020G>A (p.Met2340Ile)
c.7017G>A (p.Met2339Ile)
c.6972G>A (p.Met2324Ile)
n.7637G>A
 dbSNP
Xg.77508493A>CCA413704316ATRXc.7337T>G (p.Met2446Arg)
c.2435T>G (p.Met812Arg)
c.7223T>G (p.Met2408Arg)
c.*6965T>G (n.*6965T>G)
n.5657T>G
n.568T>G
c.7334T>G (p.Met2445Arg)
c.7250T>G (p.Met2417Arg)
c.7220T>G (p.Met2407Arg)
c.7172T>G (p.Met2391Arg)
c.7133T>G (p.Met2378Arg)
c.7058T>G (p.Met2353Arg)
n.8929T>G
c.7247T>G (p.Met2416Arg)
c.7217T>G (p.Met2406Arg)
c.7169T>G (p.Met2390Arg)
c.7136T>G (p.Met2379Arg)
c.7106T>G (p.Met2369Arg)
c.7103T>G (p.Met2368Arg)
c.7055T>G (p.Met2352Arg)
c.7019T>G (p.Met2340Arg)
c.7016T>G (p.Met2339Arg)
c.6971T>G (p.Met2324Arg)
n.7636T>G
Xg.77508493A>GCA413704322ATRXc.7337T>C (p.Met2446Thr)
c.2435T>C (p.Met812Thr)
c.7223T>C (p.Met2408Thr)
c.*6965T>C (n.*6965T>C)
n.5657T>C
n.568T>C
c.7334T>C (p.Met2445Thr)
c.7250T>C (p.Met2417Thr)
c.7220T>C (p.Met2407Thr)
c.7172T>C (p.Met2391Thr)
c.7133T>C (p.Met2378Thr)
c.7058T>C (p.Met2353Thr)
n.8929T>C
c.7247T>C (p.Met2416Thr)
c.7217T>C (p.Met2406Thr)
c.7169T>C (p.Met2390Thr)
c.7136T>C (p.Met2379Thr)
c.7106T>C (p.Met2369Thr)
c.7103T>C (p.Met2368Thr)
c.7055T>C (p.Met2352Thr)
c.7019T>C (p.Met2340Thr)
c.7016T>C (p.Met2339Thr)
c.6971T>C (p.Met2324Thr)
n.7636T>C
Xg.77508493A>TCA413704313ATRXc.7337T>A (p.Met2446Lys)
c.2435T>A (p.Met812Lys)
c.7223T>A (p.Met2408Lys)
c.*6965T>A (n.*6965T>A)
n.5657T>A
n.568T>A
c.7334T>A (p.Met2445Lys)
c.7250T>A (p.Met2417Lys)
c.7220T>A (p.Met2407Lys)
c.7172T>A (p.Met2391Lys)
c.7133T>A (p.Met2378Lys)
c.7058T>A (p.Met2353Lys)
n.8929T>A
c.7247T>A (p.Met2416Lys)
c.7217T>A (p.Met2406Lys)
c.7169T>A (p.Met2390Lys)
c.7136T>A (p.Met2379Lys)
c.7106T>A (p.Met2369Lys)
c.7103T>A (p.Met2368Lys)
c.7055T>A (p.Met2352Lys)
c.7019T>A (p.Met2340Lys)
c.7016T>A (p.Met2339Lys)
c.6971T>A (p.Met2324Lys)
n.7636T>A
 dbSNP
Xg.77508494T>ACA413704327ATRXc.7336A>T (p.Met2446Leu)
c.2434A>T (p.Met812Leu)
c.7222A>T (p.Met2408Leu)
c.*6964A>T (n.*6964A>T)
n.5656A>T
n.567A>T
c.7333A>T (p.Met2445Leu)
c.7249A>T (p.Met2417Leu)
c.7219A>T (p.Met2407Leu)
c.7171A>T (p.Met2391Leu)
c.7132A>T (p.Met2378Leu)
c.7057A>T (p.Met2353Leu)
n.8928A>T
c.7246A>T (p.Met2416Leu)
c.7216A>T (p.Met2406Leu)
c.7168A>T (p.Met2390Leu)
c.7135A>T (p.Met2379Leu)
c.7105A>T (p.Met2369Leu)
c.7102A>T (p.Met2368Leu)
c.7054A>T (p.Met2352Leu)
c.7018A>T (p.Met2340Leu)
c.7015A>T (p.Met2339Leu)
c.6970A>T (p.Met2324Leu)
n.7635A>T
Xg.77508494T>CCA413704329ATRXc.7336A>G (p.Met2446Val)
c.2434A>G (p.Met812Val)
c.7222A>G (p.Met2408Val)
c.*6964A>G (n.*6964A>G)
n.5656A>G
n.567A>G
c.7333A>G (p.Met2445Val)
c.7249A>G (p.Met2417Val)
c.7219A>G (p.Met2407Val)
c.7171A>G (p.Met2391Val)
c.7132A>G (p.Met2378Val)
c.7057A>G (p.Met2353Val)
n.8928A>G
c.7246A>G (p.Met2416Val)
c.7216A>G (p.Met2406Val)
c.7168A>G (p.Met2390Val)
c.7135A>G (p.Met2379Val)
c.7105A>G (p.Met2369Val)
c.7102A>G (p.Met2368Val)
c.7054A>G (p.Met2352Val)
c.7018A>G (p.Met2340Val)
c.7015A>G (p.Met2339Val)
c.6970A>G (p.Met2324Val)
n.7635A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.77508494T>GCA413704335ATRXc.7336A>C (p.Met2446Leu)
c.2434A>C (p.Met812Leu)
c.7222A>C (p.Met2408Leu)
c.*6964A>C (n.*6964A>C)
n.5656A>C
n.567A>C
c.7333A>C (p.Met2445Leu)
c.7249A>C (p.Met2417Leu)
c.7219A>C (p.Met2407Leu)
c.7171A>C (p.Met2391Leu)
c.7132A>C (p.Met2378Leu)
c.7057A>C (p.Met2353Leu)
n.8928A>C
c.7246A>C (p.Met2416Leu)
c.7216A>C (p.Met2406Leu)
c.7168A>C (p.Met2390Leu)
c.7135A>C (p.Met2379Leu)
c.7105A>C (p.Met2369Leu)
c.7102A>C (p.Met2368Leu)
c.7054A>C (p.Met2352Leu)
c.7018A>C (p.Met2340Leu)
c.7015A>C (p.Met2339Leu)
c.6970A>C (p.Met2324Leu)
n.7635A>C
 ClinVar
Xg.77508494T=CA2438929051ATRXc.7336A= (p.Met2446=)
c.2434A= (p.Met812=)
c.7222A= (p.Met2408=)
c.*6964A= (n.*6964A=)
n.5656A=
n.567A=
c.7333A= (p.Met2445=)
c.7249A= (p.Met2417=)
c.7219A= (p.Met2407=)
c.7171A= (p.Met2391=)
c.7132A= (p.Met2378=)
c.7057A= (p.Met2353=)
n.8928A=
c.7246A= (p.Met2416=)
c.7216A= (p.Met2406=)
c.7168A= (p.Met2390=)
c.7135A= (p.Met2379=)
c.7105A= (p.Met2369=)
c.7102A= (p.Met2368=)
c.7054A= (p.Met2352=)
c.7018A= (p.Met2340=)
c.7015A= (p.Met2339=)
c.6970A= (p.Met2324=)
n.7635A=
Xg.77508495G>ACA517374111ATRXc.7335C>T (p.Ile2445=)
c.2433C>T (p.Ile811=)
c.7221C>T (p.Ile2407=)
c.*6963C>T (n.*6963C>T)
n.5655C>T
n.566C>T
c.7332C>T (p.Ile2444=)
c.7248C>T (p.Ile2416=)
c.7218C>T (p.Ile2406=)
c.7170C>T (p.Ile2390=)
c.7131C>T (p.Ile2377=)
c.7056C>T (p.Ile2352=)
n.8927C>T
c.7245C>T (p.Ile2415=)
c.7215C>T (p.Ile2405=)
c.7167C>T (p.Ile2389=)
c.7134C>T (p.Ile2378=)
c.7104C>T (p.Ile2368=)
c.7101C>T (p.Ile2367=)
c.7053C>T (p.Ile2351=)
c.7017C>T (p.Ile2339=)
c.7014C>T (p.Ile2338=)
c.6969C>T (p.Ile2323=)
n.7634C>T
 dbSNP
Xg.77508495G>CCA413704338ATRXc.7335C>G (p.Ile2445Met)
c.2433C>G (p.Ile811Met)
c.7221C>G (p.Ile2407Met)
c.*6963C>G (n.*6963C>G)
n.5655C>G
n.566C>G
c.7332C>G (p.Ile2444Met)
c.7248C>G (p.Ile2416Met)
c.7218C>G (p.Ile2406Met)
c.7170C>G (p.Ile2390Met)
c.7131C>G (p.Ile2377Met)
c.7056C>G (p.Ile2352Met)
n.8927C>G
c.7245C>G (p.Ile2415Met)
c.7215C>G (p.Ile2405Met)
c.7167C>G (p.Ile2389Met)
c.7134C>G (p.Ile2378Met)
c.7104C>G (p.Ile2368Met)
c.7101C>G (p.Ile2367Met)
c.7053C>G (p.Ile2351Met)
c.7017C>G (p.Ile2339Met)
c.7014C>G (p.Ile2338Met)
c.6969C>G (p.Ile2323Met)
n.7634C>G
 dbSNP
Xg.77508495G=CA2438929052ATRXc.7335C= (p.Ile2445=)
c.2433C= (p.Ile811=)
c.7221C= (p.Ile2407=)
c.*6963C= (n.*6963C=)
n.5655C=
n.566C=
c.7332C= (p.Ile2444=)
c.7248C= (p.Ile2416=)
c.7218C= (p.Ile2406=)
c.7170C= (p.Ile2390=)
c.7131C= (p.Ile2377=)
c.7056C= (p.Ile2352=)
n.8927C=
c.7245C= (p.Ile2415=)
c.7215C= (p.Ile2405=)
c.7167C= (p.Ile2389=)
c.7134C= (p.Ile2378=)
c.7104C= (p.Ile2368=)
c.7101C= (p.Ile2367=)
c.7053C= (p.Ile2351=)
c.7017C= (p.Ile2339=)
c.7014C= (p.Ile2338=)
c.6969C= (p.Ile2323=)
n.7634C=
Xg.77508495G>TCA10457393ATRXc.7335C>A (p.Ile2445=)
c.2433C>A (p.Ile811=)
c.7221C>A (p.Ile2407=)
c.*6963C>A (n.*6963C>A)
n.5655C>A
n.566C>A
c.7332C>A (p.Ile2444=)
c.7248C>A (p.Ile2416=)
c.7218C>A (p.Ile2406=)
c.7170C>A (p.Ile2390=)
c.7131C>A (p.Ile2377=)
c.7056C>A (p.Ile2352=)
n.8927C>A
c.7245C>A (p.Ile2415=)
c.7215C>A (p.Ile2405=)
c.7167C>A (p.Ile2389=)
c.7134C>A (p.Ile2378=)
c.7104C>A (p.Ile2368=)
c.7101C>A (p.Ile2367=)
c.7053C>A (p.Ile2351=)
c.7017C>A (p.Ile2339=)
c.7014C>A (p.Ile2338=)
c.6969C>A (p.Ile2323=)
n.7634C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77508496A=CA2438929053ATRXc.7334T= (p.Ile2445=)
c.2432T= (p.Ile811=)
c.7220T= (p.Ile2407=)
c.*6962T= (n.*6962T=)
n.5654T=
n.565T=
c.7331T= (p.Ile2444=)
c.7247T= (p.Ile2416=)
c.7217T= (p.Ile2406=)
c.7169T= (p.Ile2390=)
c.7130T= (p.Ile2377=)
c.7055T= (p.Ile2352=)
n.8926T=
c.7244T= (p.Ile2415=)
c.7214T= (p.Ile2405=)
c.7166T= (p.Ile2389=)
c.7133T= (p.Ile2378=)
c.7103T= (p.Ile2368=)
c.7100T= (p.Ile2367=)
c.7052T= (p.Ile2351=)
c.7016T= (p.Ile2339=)
c.7013T= (p.Ile2338=)
c.6968T= (p.Ile2323=)
n.7633T=
Xg.77508496A>CCA413704345ATRXc.7334T>G (p.Ile2445Ser)
c.2432T>G (p.Ile811Ser)
c.7220T>G (p.Ile2407Ser)
c.*6962T>G (n.*6962T>G)
n.5654T>G
n.565T>G
c.7331T>G (p.Ile2444Ser)
c.7247T>G (p.Ile2416Ser)
c.7217T>G (p.Ile2406Ser)
c.7169T>G (p.Ile2390Ser)
c.7130T>G (p.Ile2377Ser)
c.7055T>G (p.Ile2352Ser)
n.8926T>G
c.7244T>G (p.Ile2415Ser)
c.7214T>G (p.Ile2405Ser)
c.7166T>G (p.Ile2389Ser)
c.7133T>G (p.Ile2378Ser)
c.7103T>G (p.Ile2368Ser)
c.7100T>G (p.Ile2367Ser)
c.7052T>G (p.Ile2351Ser)
c.7016T>G (p.Ile2339Ser)
c.7013T>G (p.Ile2338Ser)
c.6968T>G (p.Ile2323Ser)
n.7633T>G
Xg.77508496A>GCA413704348ATRXc.7334T>C (p.Ile2445Thr)
c.2432T>C (p.Ile811Thr)
c.7220T>C (p.Ile2407Thr)
c.*6962T>C (n.*6962T>C)
n.5654T>C
n.565T>C
c.7331T>C (p.Ile2444Thr)
c.7247T>C (p.Ile2416Thr)
c.7217T>C (p.Ile2406Thr)
c.7169T>C (p.Ile2390Thr)
c.7130T>C (p.Ile2377Thr)
c.7055T>C (p.Ile2352Thr)
n.8926T>C
c.7244T>C (p.Ile2415Thr)
c.7214T>C (p.Ile2405Thr)
c.7166T>C (p.Ile2389Thr)
c.7133T>C (p.Ile2378Thr)
c.7103T>C (p.Ile2368Thr)
c.7100T>C (p.Ile2367Thr)
c.7052T>C (p.Ile2351Thr)
c.7016T>C (p.Ile2339Thr)
c.7013T>C (p.Ile2338Thr)
c.6968T>C (p.Ile2323Thr)
n.7633T>C
Xg.77508496A>TCA16608989ATRXc.7334T>A (p.Ile2445Asn)
c.2432T>A (p.Ile811Asn)
c.7220T>A (p.Ile2407Asn)
c.*6962T>A (n.*6962T>A)
n.5654T>A
n.565T>A
c.7331T>A (p.Ile2444Asn)
c.7247T>A (p.Ile2416Asn)
c.7217T>A (p.Ile2406Asn)
c.7169T>A (p.Ile2390Asn)
c.7130T>A (p.Ile2377Asn)
c.7055T>A (p.Ile2352Asn)
n.8926T>A
c.7244T>A (p.Ile2415Asn)
c.7214T>A (p.Ile2405Asn)
c.7166T>A (p.Ile2389Asn)
c.7133T>A (p.Ile2378Asn)
c.7103T>A (p.Ile2368Asn)
c.7100T>A (p.Ile2367Asn)
c.7052T>A (p.Ile2351Asn)
c.7016T>A (p.Ile2339Asn)
c.7013T>A (p.Ile2338Asn)
c.6968T>A (p.Ile2323Asn)
n.7633T>A
 ClinVar dbSNP
Xg.77508497T>ACA413704354ATRXc.7333A>T (p.Ile2445Phe)
c.2431A>T (p.Ile811Phe)
c.7219A>T (p.Ile2407Phe)
c.*6961A>T (n.*6961A>T)
n.5653A>T
n.564A>T
c.7330A>T (p.Ile2444Phe)
c.7246A>T (p.Ile2416Phe)
c.7216A>T (p.Ile2406Phe)
c.7168A>T (p.Ile2390Phe)
c.7129A>T (p.Ile2377Phe)
c.7054A>T (p.Ile2352Phe)
n.8925A>T
c.7243A>T (p.Ile2415Phe)
c.7213A>T (p.Ile2405Phe)
c.7165A>T (p.Ile2389Phe)
c.7132A>T (p.Ile2378Phe)
c.7102A>T (p.Ile2368Phe)
c.7099A>T (p.Ile2367Phe)
c.7051A>T (p.Ile2351Phe)
c.7015A>T (p.Ile2339Phe)
c.7012A>T (p.Ile2338Phe)
c.6967A>T (p.Ile2323Phe)
n.7632A>T
 gnomAD v4
Xg.77508497T>CCA10457394ATRXc.7333A>G (p.Ile2445Val)
c.2431A>G (p.Ile811Val)
c.7219A>G (p.Ile2407Val)
c.*6961A>G (n.*6961A>G)
n.5653A>G
n.564A>G
c.7330A>G (p.Ile2444Val)
c.7246A>G (p.Ile2416Val)
c.7216A>G (p.Ile2406Val)
c.7168A>G (p.Ile2390Val)
c.7129A>G (p.Ile2377Val)
c.7054A>G (p.Ile2352Val)
n.8925A>G
c.7243A>G (p.Ile2415Val)
c.7213A>G (p.Ile2405Val)
c.7165A>G (p.Ile2389Val)
c.7132A>G (p.Ile2378Val)
c.7102A>G (p.Ile2368Val)
c.7099A>G (p.Ile2367Val)
c.7051A>G (p.Ile2351Val)
c.7015A>G (p.Ile2339Val)
c.7012A>G (p.Ile2338Val)
c.6967A>G (p.Ile2323Val)
n.7632A>G
 dbSNP ExAC
Xg.77508497T>GCA413704358ATRXc.7333A>C (p.Ile2445Leu)
c.2431A>C (p.Ile811Leu)
c.7219A>C (p.Ile2407Leu)
c.*6961A>C (n.*6961A>C)
n.5653A>C
n.564A>C
c.7330A>C (p.Ile2444Leu)
c.7246A>C (p.Ile2416Leu)
c.7216A>C (p.Ile2406Leu)
c.7168A>C (p.Ile2390Leu)
c.7129A>C (p.Ile2377Leu)
c.7054A>C (p.Ile2352Leu)
n.8925A>C
c.7243A>C (p.Ile2415Leu)
c.7213A>C (p.Ile2405Leu)
c.7165A>C (p.Ile2389Leu)
c.7132A>C (p.Ile2378Leu)
c.7102A>C (p.Ile2368Leu)
c.7099A>C (p.Ile2367Leu)
c.7051A>C (p.Ile2351Leu)
c.7015A>C (p.Ile2339Leu)
c.7012A>C (p.Ile2338Leu)
c.6967A>C (p.Ile2323Leu)
n.7632A>C
Xg.77508497T=CA2438929054ATRXc.7333A= (p.Ile2445=)
c.2431A= (p.Ile811=)
c.7219A= (p.Ile2407=)
c.*6961A= (n.*6961A=)
n.5653A=
n.564A=
c.7330A= (p.Ile2444=)
c.7246A= (p.Ile2416=)
c.7216A= (p.Ile2406=)
c.7168A= (p.Ile2390=)
c.7129A= (p.Ile2377=)
c.7054A= (p.Ile2352=)
n.8925A=
c.7243A= (p.Ile2415=)
c.7213A= (p.Ile2405=)
c.7165A= (p.Ile2389=)
c.7132A= (p.Ile2378=)
c.7102A= (p.Ile2368=)
c.7099A= (p.Ile2367=)
c.7051A= (p.Ile2351=)
c.7015A= (p.Ile2339=)
c.7012A= (p.Ile2338=)
c.6967A= (p.Ile2323=)
n.7632A=
Xg.77508498C>ACA413704362ATRXc.7332G>T (p.Leu2444Phe)
c.2430G>T (p.Leu810Phe)
c.7218G>T (p.Leu2406Phe)
c.*6960G>T (n.*6960G>T)
n.5652G>T
n.563G>T
c.7329G>T (p.Leu2443Phe)
c.7245G>T (p.Leu2415Phe)
c.7215G>T (p.Leu2405Phe)
c.7167G>T (p.Leu2389Phe)
c.7128G>T (p.Leu2376Phe)
c.7053G>T (p.Leu2351Phe)
n.8924G>T
c.7242G>T (p.Leu2414Phe)
c.7212G>T (p.Leu2404Phe)
c.7164G>T (p.Leu2388Phe)
c.7131G>T (p.Leu2377Phe)
c.7101G>T (p.Leu2367Phe)
c.7098G>T (p.Leu2366Phe)
c.7050G>T (p.Leu2350Phe)
c.7014G>T (p.Leu2338Phe)
c.7011G>T (p.Leu2337Phe)
c.6966G>T (p.Leu2322Phe)
n.7631G>T
Xg.77508498C>GCA413704365ATRXc.7332G>C (p.Leu2444Phe)
c.2430G>C (p.Leu810Phe)
c.7218G>C (p.Leu2406Phe)
c.*6960G>C (n.*6960G>C)
n.5652G>C
n.563G>C
c.7329G>C (p.Leu2443Phe)
c.7245G>C (p.Leu2415Phe)
c.7215G>C (p.Leu2405Phe)
c.7167G>C (p.Leu2389Phe)
c.7128G>C (p.Leu2376Phe)
c.7053G>C (p.Leu2351Phe)
n.8924G>C
c.7242G>C (p.Leu2414Phe)
c.7212G>C (p.Leu2404Phe)
c.7164G>C (p.Leu2388Phe)
c.7131G>C (p.Leu2377Phe)
c.7101G>C (p.Leu2367Phe)
c.7098G>C (p.Leu2366Phe)
c.7050G>C (p.Leu2350Phe)
c.7014G>C (p.Leu2338Phe)
c.7011G>C (p.Leu2337Phe)
c.6966G>C (p.Leu2322Phe)
n.7631G>C
 dbSNP
Xg.77508498C>TCA517374116ATRXc.7332G>A (p.Leu2444=)
c.2430G>A (p.Leu810=)
c.7218G>A (p.Leu2406=)
c.*6960G>A (n.*6960G>A)
n.5652G>A
n.563G>A
c.7329G>A (p.Leu2443=)
c.7245G>A (p.Leu2415=)
c.7215G>A (p.Leu2405=)
c.7167G>A (p.Leu2389=)
c.7128G>A (p.Leu2376=)
c.7053G>A (p.Leu2351=)
n.8924G>A
c.7242G>A (p.Leu2414=)
c.7212G>A (p.Leu2404=)
c.7164G>A (p.Leu2388=)
c.7131G>A (p.Leu2377=)
c.7101G>A (p.Leu2367=)
c.7098G>A (p.Leu2366=)
c.7050G>A (p.Leu2350=)
c.7014G>A (p.Leu2338=)
c.7011G>A (p.Leu2337=)
c.6966G>A (p.Leu2322=)
n.7631G>A
 ClinVar dbSNP gnomAD v4
Xg.77508499A>CCA413704378ATRXc.7331T>G (p.Leu2444Trp)
c.2429T>G (p.Leu810Trp)
c.7217T>G (p.Leu2406Trp)
c.*6959T>G (n.*6959T>G)
n.5651T>G
n.562T>G
c.7328T>G (p.Leu2443Trp)
c.7244T>G (p.Leu2415Trp)
c.7214T>G (p.Leu2405Trp)
c.7166T>G (p.Leu2389Trp)
c.7127T>G (p.Leu2376Trp)
c.7052T>G (p.Leu2351Trp)
n.8923T>G
c.7241T>G (p.Leu2414Trp)
c.7211T>G (p.Leu2404Trp)
c.7163T>G (p.Leu2388Trp)
c.7130T>G (p.Leu2377Trp)
c.7100T>G (p.Leu2367Trp)
c.7097T>G (p.Leu2366Trp)
c.7049T>G (p.Leu2350Trp)
c.7013T>G (p.Leu2338Trp)
c.7010T>G (p.Leu2337Trp)
c.6965T>G (p.Leu2322Trp)
n.7630T>G
Xg.77508499A>GCA413704368ATRXc.7331T>C (p.Leu2444Ser)
c.2429T>C (p.Leu810Ser)
c.7217T>C (p.Leu2406Ser)
c.*6959T>C (n.*6959T>C)
n.5651T>C
n.562T>C
c.7328T>C (p.Leu2443Ser)
c.7244T>C (p.Leu2415Ser)
c.7214T>C (p.Leu2405Ser)
c.7166T>C (p.Leu2389Ser)
c.7127T>C (p.Leu2376Ser)
c.7052T>C (p.Leu2351Ser)
n.8923T>C
c.7241T>C (p.Leu2414Ser)
c.7211T>C (p.Leu2404Ser)
c.7163T>C (p.Leu2388Ser)
c.7130T>C (p.Leu2377Ser)
c.7100T>C (p.Leu2367Ser)
c.7097T>C (p.Leu2366Ser)
c.7049T>C (p.Leu2350Ser)
c.7013T>C (p.Leu2338Ser)
c.7010T>C (p.Leu2337Ser)
c.6965T>C (p.Leu2322Ser)
n.7630T>C
Xg.77508499A>TCA413704372ATRXc.7331T>A (p.Leu2444Ter)
c.2429T>A (p.Leu810Ter)
c.7217T>A (p.Leu2406Ter)
c.*6959T>A (n.*6959T>A)
n.5651T>A
n.562T>A
c.7328T>A (p.Leu2443Ter)
c.7244T>A (p.Leu2415Ter)
c.7214T>A (p.Leu2405Ter)
c.7166T>A (p.Leu2389Ter)
c.7127T>A (p.Leu2376Ter)
c.7052T>A (p.Leu2351Ter)
n.8923T>A
c.7241T>A (p.Leu2414Ter)
c.7211T>A (p.Leu2404Ter)
c.7163T>A (p.Leu2388Ter)
c.7130T>A (p.Leu2377Ter)
c.7100T>A (p.Leu2367Ter)
c.7097T>A (p.Leu2366Ter)
c.7049T>A (p.Leu2350Ter)
c.7013T>A (p.Leu2338Ter)
c.7010T>A (p.Leu2337Ter)
c.6965T>A (p.Leu2322Ter)
n.7630T>A
Xg.77508500A>CCA413704382ATRXc.7330T>G (p.Leu2444Val)
c.2428T>G (p.Leu810Val)
c.7216T>G (p.Leu2406Val)
c.*6958T>G (n.*6958T>G)
n.5650T>G
n.561T>G
c.7327T>G (p.Leu2443Val)
c.7243T>G (p.Leu2415Val)
c.7213T>G (p.Leu2405Val)
c.7165T>G (p.Leu2389Val)
c.7126T>G (p.Leu2376Val)
c.7051T>G (p.Leu2351Val)
n.8922T>G
c.7240T>G (p.Leu2414Val)
c.7210T>G (p.Leu2404Val)
c.7162T>G (p.Leu2388Val)
c.7129T>G (p.Leu2377Val)
c.7099T>G (p.Leu2367Val)
c.7096T>G (p.Leu2366Val)
c.7048T>G (p.Leu2350Val)
c.7012T>G (p.Leu2338Val)
c.7009T>G (p.Leu2337Val)
c.6964T>G (p.Leu2322Val)
n.7629T>G
Xg.77508500A>GCA517374118ATRXc.7330T>C (p.Leu2444=)
c.2428T>C (p.Leu810=)
c.7216T>C (p.Leu2406=)
c.*6958T>C (n.*6958T>C)
n.5650T>C
n.561T>C
c.7327T>C (p.Leu2443=)
c.7243T>C (p.Leu2415=)
c.7213T>C (p.Leu2405=)
c.7165T>C (p.Leu2389=)
c.7126T>C (p.Leu2376=)
c.7051T>C (p.Leu2351=)
n.8922T>C
c.7240T>C (p.Leu2414=)
c.7210T>C (p.Leu2404=)
c.7162T>C (p.Leu2388=)
c.7129T>C (p.Leu2377=)
c.7099T>C (p.Leu2367=)
c.7096T>C (p.Leu2366=)
c.7048T>C (p.Leu2350=)
c.7012T>C (p.Leu2338=)
c.7009T>C (p.Leu2337=)
c.6964T>C (p.Leu2322=)
n.7629T>C
Xg.77508500A>TCA413704385ATRXc.7330T>A (p.Leu2444Met)
c.2428T>A (p.Leu810Met)
c.7216T>A (p.Leu2406Met)
c.*6958T>A (n.*6958T>A)
n.5650T>A
n.561T>A
c.7327T>A (p.Leu2443Met)
c.7243T>A (p.Leu2415Met)
c.7213T>A (p.Leu2405Met)
c.7165T>A (p.Leu2389Met)
c.7126T>A (p.Leu2376Met)
c.7051T>A (p.Leu2351Met)
n.8922T>A
c.7240T>A (p.Leu2414Met)
c.7210T>A (p.Leu2404Met)
c.7162T>A (p.Leu2388Met)
c.7129T>A (p.Leu2377Met)
c.7099T>A (p.Leu2367Met)
c.7096T>A (p.Leu2366Met)
c.7048T>A (p.Leu2350Met)
c.7012T>A (p.Leu2338Met)
c.7009T>A (p.Leu2337Met)
c.6964T>A (p.Leu2322Met)
n.7629T>A
Xg.77508501A>CCA413704389ATRXc.7329T>G (p.Asn2443Lys)
c.2427T>G (p.Asn809Lys)
c.7215T>G (p.Asn2405Lys)
c.*6957T>G (n.*6957T>G)
n.5649T>G
n.560T>G
c.7326T>G (p.Asn2442Lys)
c.7242T>G (p.Asn2414Lys)
c.7212T>G (p.Asn2404Lys)
c.7164T>G (p.Asn2388Lys)
c.7125T>G (p.Asn2375Lys)
c.7050T>G (p.Asn2350Lys)
n.8921T>G
c.7239T>G (p.Asn2413Lys)
c.7209T>G (p.Asn2403Lys)
c.7161T>G (p.Asn2387Lys)
c.7128T>G (p.Asn2376Lys)
c.7098T>G (p.Asn2366Lys)
c.7095T>G (p.Asn2365Lys)
c.7047T>G (p.Asn2349Lys)
c.7011T>G (p.Asn2337Lys)
c.7008T>G (p.Asn2336Lys)
c.6963T>G (p.Asn2321Lys)
n.7628T>G
Xg.77508501A>GCA517374119ATRXc.7329T>C (p.Asn2443=)
c.2427T>C (p.Asn809=)
c.7215T>C (p.Asn2405=)
c.*6957T>C (n.*6957T>C)
n.5649T>C
n.560T>C
c.7326T>C (p.Asn2442=)
c.7242T>C (p.Asn2414=)
c.7212T>C (p.Asn2404=)
c.7164T>C (p.Asn2388=)
c.7125T>C (p.Asn2375=)
c.7050T>C (p.Asn2350=)
n.8921T>C
c.7239T>C (p.Asn2413=)
c.7209T>C (p.Asn2403=)
c.7161T>C (p.Asn2387=)
c.7128T>C (p.Asn2376=)
c.7098T>C (p.Asn2366=)
c.7095T>C (p.Asn2365=)
c.7047T>C (p.Asn2349=)
c.7011T>C (p.Asn2337=)
c.7008T>C (p.Asn2336=)
c.6963T>C (p.Asn2321=)
n.7628T>C
Xg.77508501A>TCA413704391ATRXc.7329T>A (p.Asn2443Lys)
c.2427T>A (p.Asn809Lys)
c.7215T>A (p.Asn2405Lys)
c.*6957T>A (n.*6957T>A)
n.5649T>A
n.560T>A
c.7326T>A (p.Asn2442Lys)
c.7242T>A (p.Asn2414Lys)
c.7212T>A (p.Asn2404Lys)
c.7164T>A (p.Asn2388Lys)
c.7125T>A (p.Asn2375Lys)
c.7050T>A (p.Asn2350Lys)
n.8921T>A
c.7239T>A (p.Asn2413Lys)
c.7209T>A (p.Asn2403Lys)
c.7161T>A (p.Asn2387Lys)
c.7128T>A (p.Asn2376Lys)
c.7098T>A (p.Asn2366Lys)
c.7095T>A (p.Asn2365Lys)
c.7047T>A (p.Asn2349Lys)
c.7011T>A (p.Asn2337Lys)
c.7008T>A (p.Asn2336Lys)
c.6963T>A (p.Asn2321Lys)
n.7628T>A
Xg.77508502T>ACA413704397ATRXc.7328A>T (p.Asn2443Ile)
c.2426A>T (p.Asn809Ile)
c.7214A>T (p.Asn2405Ile)
c.*6956A>T (n.*6956A>T)
n.5648A>T
n.559A>T
c.7325A>T (p.Asn2442Ile)
c.7241A>T (p.Asn2414Ile)
c.7211A>T (p.Asn2404Ile)
c.7163A>T (p.Asn2388Ile)
c.7124A>T (p.Asn2375Ile)
c.7049A>T (p.Asn2350Ile)
n.8920A>T
c.7238A>T (p.Asn2413Ile)
c.7208A>T (p.Asn2403Ile)
c.7160A>T (p.Asn2387Ile)
c.7127A>T (p.Asn2376Ile)
c.7097A>T (p.Asn2366Ile)
c.7094A>T (p.Asn2365Ile)
c.7046A>T (p.Asn2349Ile)
c.7010A>T (p.Asn2337Ile)
c.7007A>T (p.Asn2336Ile)
c.6962A>T (p.Asn2321Ile)
n.7627A>T
 dbSNP
Xg.77508502T>CCA413704399ATRXc.7328A>G (p.Asn2443Ser)
c.2426A>G (p.Asn809Ser)
c.7214A>G (p.Asn2405Ser)
c.*6956A>G (n.*6956A>G)
n.5648A>G
n.559A>G
c.7325A>G (p.Asn2442Ser)
c.7241A>G (p.Asn2414Ser)
c.7211A>G (p.Asn2404Ser)
c.7163A>G (p.Asn2388Ser)
c.7124A>G (p.Asn2375Ser)
c.7049A>G (p.Asn2350Ser)
n.8920A>G
c.7238A>G (p.Asn2413Ser)
c.7208A>G (p.Asn2403Ser)
c.7160A>G (p.Asn2387Ser)
c.7127A>G (p.Asn2376Ser)
c.7097A>G (p.Asn2366Ser)
c.7094A>G (p.Asn2365Ser)
c.7046A>G (p.Asn2349Ser)
c.7010A>G (p.Asn2337Ser)
c.7007A>G (p.Asn2336Ser)
c.6962A>G (p.Asn2321Ser)
n.7627A>G
Xg.77508502T>GCA413704403ATRXc.7328A>C (p.Asn2443Thr)
c.2426A>C (p.Asn809Thr)
c.7214A>C (p.Asn2405Thr)
c.*6956A>C (n.*6956A>C)
n.5648A>C
n.559A>C
c.7325A>C (p.Asn2442Thr)
c.7241A>C (p.Asn2414Thr)
c.7211A>C (p.Asn2404Thr)
c.7163A>C (p.Asn2388Thr)
c.7124A>C (p.Asn2375Thr)
c.7049A>C (p.Asn2350Thr)
n.8920A>C
c.7238A>C (p.Asn2413Thr)
c.7208A>C (p.Asn2403Thr)
c.7160A>C (p.Asn2387Thr)
c.7127A>C (p.Asn2376Thr)
c.7097A>C (p.Asn2366Thr)
c.7094A>C (p.Asn2365Thr)
c.7046A>C (p.Asn2349Thr)
c.7010A>C (p.Asn2337Thr)
c.7007A>C (p.Asn2336Thr)
c.6962A>C (p.Asn2321Thr)
n.7627A>C
Xg.77508504dupCA2738724265ATRXc.7328dup (p.Asn2443LysfsTer8)
c.2426dup (p.Asn809LysfsTer8)
c.7214dup (p.Asn2405LysfsTer8)
c.*6956dup (n.*6956dup)
n.5648dup
n.559dup
c.7325dup (p.Asn2442LysfsTer8)
c.7241dup (p.Asn2414LysfsTer8)
c.7211dup (p.Asn2404LysfsTer8)
c.7163dup (p.Asn2388LysfsTer8)
c.7124dup (p.Asn2375LysfsTer8)
c.7049dup (p.Asn2350LysfsTer8)
n.8920dup
c.7238dup (p.Asn2413LysfsTer8)
c.7208dup (p.Asn2403LysfsTer8)
c.7160dup (p.Asn2387LysfsTer8)
c.7127dup (p.Asn2376LysfsTer8)
c.7097dup (p.Asn2366LysfsTer8)
c.7094dup (p.Asn2365LysfsTer8)
c.7046dup (p.Asn2349LysfsTer8)
c.7010dup (p.Asn2337LysfsTer8)
c.7007dup (p.Asn2336LysfsTer8)
c.6962dup (p.Asn2321LysfsTer8)
n.7627dup
 dbSNP
Xg.77508503T>ACA413704406ATRXc.7327A>T (p.Asn2443Tyr)
c.2425A>T (p.Asn809Tyr)
c.7213A>T (p.Asn2405Tyr)
c.*6955A>T (n.*6955A>T)
n.5647A>T
n.558A>T
c.7324A>T (p.Asn2442Tyr)
c.7240A>T (p.Asn2414Tyr)
c.7210A>T (p.Asn2404Tyr)
c.7162A>T (p.Asn2388Tyr)
c.7123A>T (p.Asn2375Tyr)
c.7048A>T (p.Asn2350Tyr)
n.8919A>T
c.7237A>T (p.Asn2413Tyr)
c.7207A>T (p.Asn2403Tyr)
c.7159A>T (p.Asn2387Tyr)
c.7126A>T (p.Asn2376Tyr)
c.7096A>T (p.Asn2366Tyr)
c.7093A>T (p.Asn2365Tyr)
c.7045A>T (p.Asn2349Tyr)
c.7009A>T (p.Asn2337Tyr)
c.7006A>T (p.Asn2336Tyr)
c.6961A>T (p.Asn2321Tyr)
n.7626A>T
Xg.77508503T>CCA331560035ATRXc.7327A>G (p.Asn2443Asp)
c.2425A>G (p.Asn809Asp)
c.7213A>G (p.Asn2405Asp)
c.*6955A>G (n.*6955A>G)
n.5647A>G
n.558A>G
c.7324A>G (p.Asn2442Asp)
c.7240A>G (p.Asn2414Asp)
c.7210A>G (p.Asn2404Asp)
c.7162A>G (p.Asn2388Asp)
c.7123A>G (p.Asn2375Asp)
c.7048A>G (p.Asn2350Asp)
n.8919A>G
c.7237A>G (p.Asn2413Asp)
c.7207A>G (p.Asn2403Asp)
c.7159A>G (p.Asn2387Asp)
c.7126A>G (p.Asn2376Asp)
c.7096A>G (p.Asn2366Asp)
c.7093A>G (p.Asn2365Asp)
c.7045A>G (p.Asn2349Asp)
c.7009A>G (p.Asn2337Asp)
c.7006A>G (p.Asn2336Asp)
c.6961A>G (p.Asn2321Asp)
n.7626A>G
 dbSNP COSMIC
Xg.77508503T>GCA413704413ATRXc.7327A>C (p.Asn2443His)
c.2425A>C (p.Asn809His)
c.7213A>C (p.Asn2405His)
c.*6955A>C (n.*6955A>C)
n.5647A>C
n.558A>C
c.7324A>C (p.Asn2442His)
c.7240A>C (p.Asn2414His)
c.7210A>C (p.Asn2404His)
c.7162A>C (p.Asn2388His)
c.7123A>C (p.Asn2375His)
c.7048A>C (p.Asn2350His)
n.8919A>C
c.7237A>C (p.Asn2413His)
c.7207A>C (p.Asn2403His)
c.7159A>C (p.Asn2387His)
c.7126A>C (p.Asn2376His)
c.7096A>C (p.Asn2366His)
c.7093A>C (p.Asn2365His)
c.7045A>C (p.Asn2349His)
c.7009A>C (p.Asn2337His)
c.7006A>C (p.Asn2336His)
c.6961A>C (p.Asn2321His)
n.7626A>C
Xg.77508503T=CA2438929055ATRXc.7327A= (p.Asn2443=)
c.2425A= (p.Asn809=)
c.7213A= (p.Asn2405=)
c.*6955A= (n.*6955A=)
n.5647A=
n.558A=
c.7324A= (p.Asn2442=)
c.7240A= (p.Asn2414=)
c.7210A= (p.Asn2404=)
c.7162A= (p.Asn2388=)
c.7123A= (p.Asn2375=)
c.7048A= (p.Asn2350=)
n.8919A=
c.7237A= (p.Asn2413=)
c.7207A= (p.Asn2403=)
c.7159A= (p.Asn2387=)
c.7126A= (p.Asn2376=)
c.7096A= (p.Asn2366=)
c.7093A= (p.Asn2365=)
c.7045A= (p.Asn2349=)
c.7009A= (p.Asn2337=)
c.7006A= (p.Asn2336=)
c.6961A= (p.Asn2321=)
n.7626A=
Xg.77508504T>ACA517374121ATRXc.7326A>T (p.Pro2442=)
c.2424A>T (p.Pro808=)
c.7212A>T (p.Pro2404=)
c.*6954A>T (n.*6954A>T)
n.5646A>T
n.557A>T
c.7323A>T (p.Pro2441=)
c.7239A>T (p.Pro2413=)
c.7209A>T (p.Pro2403=)
c.7161A>T (p.Pro2387=)
c.7122A>T (p.Pro2374=)
c.7047A>T (p.Pro2349=)
n.8918A>T
c.7236A>T (p.Pro2412=)
c.7206A>T (p.Pro2402=)
c.7158A>T (p.Pro2386=)
c.7125A>T (p.Pro2375=)
c.7095A>T (p.Pro2365=)
c.7092A>T (p.Pro2364=)
c.7044A>T (p.Pro2348=)
c.7008A>T (p.Pro2336=)
c.7005A>T (p.Pro2335=)
c.6960A>T (p.Pro2320=)
n.7625A>T
Xg.77508504T>CCA10457395ATRXc.7326A>G (p.Pro2442=)
c.2424A>G (p.Pro808=)
c.7212A>G (p.Pro2404=)
c.*6954A>G (n.*6954A>G)
n.5646A>G
n.557A>G
c.7323A>G (p.Pro2441=)
c.7239A>G (p.Pro2413=)
c.7209A>G (p.Pro2403=)
c.7161A>G (p.Pro2387=)
c.7122A>G (p.Pro2374=)
c.7047A>G (p.Pro2349=)
n.8918A>G
c.7236A>G (p.Pro2412=)
c.7206A>G (p.Pro2402=)
c.7158A>G (p.Pro2386=)
c.7125A>G (p.Pro2375=)
c.7095A>G (p.Pro2365=)
c.7092A>G (p.Pro2364=)
c.7044A>G (p.Pro2348=)
c.7008A>G (p.Pro2336=)
c.7005A>G (p.Pro2335=)
c.6960A>G (p.Pro2320=)
n.7625A>G
 dbSNP ExAC gnomAD v2
Xg.77508504T>GCA517374122ATRXc.7326A>C (p.Pro2442=)
c.2424A>C (p.Pro808=)
c.7212A>C (p.Pro2404=)
c.*6954A>C (n.*6954A>C)
n.5646A>C
n.557A>C
c.7323A>C (p.Pro2441=)
c.7239A>C (p.Pro2413=)
c.7209A>C (p.Pro2403=)
c.7161A>C (p.Pro2387=)
c.7122A>C (p.Pro2374=)
c.7047A>C (p.Pro2349=)
n.8918A>C
c.7236A>C (p.Pro2412=)
c.7206A>C (p.Pro2402=)
c.7158A>C (p.Pro2386=)
c.7125A>C (p.Pro2375=)
c.7095A>C (p.Pro2365=)
c.7092A>C (p.Pro2364=)
c.7044A>C (p.Pro2348=)
c.7008A>C (p.Pro2336=)
c.7005A>C (p.Pro2335=)
c.6960A>C (p.Pro2320=)
n.7625A>C
Xg.77508504T=CA2438929056ATRXc.7326A= (p.Pro2442=)
c.2424A= (p.Pro808=)
c.7212A= (p.Pro2404=)
c.*6954A= (n.*6954A=)
n.5646A=
n.557A=
c.7323A= (p.Pro2441=)
c.7239A= (p.Pro2413=)
c.7209A= (p.Pro2403=)
c.7161A= (p.Pro2387=)
c.7122A= (p.Pro2374=)
c.7047A= (p.Pro2349=)
n.8918A=
c.7236A= (p.Pro2412=)
c.7206A= (p.Pro2402=)
c.7158A= (p.Pro2386=)
c.7125A= (p.Pro2375=)
c.7095A= (p.Pro2365=)
c.7092A= (p.Pro2364=)
c.7044A= (p.Pro2348=)
c.7008A= (p.Pro2336=)
c.7005A= (p.Pro2335=)
c.6960A= (p.Pro2320=)
n.7625A=
Xg.77508505G>ACA413704421ATRXc.7325C>T (p.Pro2442Leu)
c.2423C>T (p.Pro808Leu)
c.7211C>T (p.Pro2404Leu)
c.*6953C>T (n.*6953C>T)
n.5645C>T
n.556C>T
c.7322C>T (p.Pro2441Leu)
c.7238C>T (p.Pro2413Leu)
c.7208C>T (p.Pro2403Leu)
c.7160C>T (p.Pro2387Leu)
c.7121C>T (p.Pro2374Leu)
c.7046C>T (p.Pro2349Leu)
n.8917C>T
c.7235C>T (p.Pro2412Leu)
c.7205C>T (p.Pro2402Leu)
c.7157C>T (p.Pro2386Leu)
c.7124C>T (p.Pro2375Leu)
c.7094C>T (p.Pro2365Leu)
c.7091C>T (p.Pro2364Leu)
c.7043C>T (p.Pro2348Leu)
c.7007C>T (p.Pro2336Leu)
c.7004C>T (p.Pro2335Leu)
c.6959C>T (p.Pro2320Leu)
n.7624C>T
 dbSNP
Xg.77508505G>CCA413704427ATRXc.7325C>G (p.Pro2442Arg)
c.2423C>G (p.Pro808Arg)
c.7211C>G (p.Pro2404Arg)
c.*6953C>G (n.*6953C>G)
n.5645C>G
n.556C>G
c.7322C>G (p.Pro2441Arg)
c.7238C>G (p.Pro2413Arg)
c.7208C>G (p.Pro2403Arg)
c.7160C>G (p.Pro2387Arg)
c.7121C>G (p.Pro2374Arg)
c.7046C>G (p.Pro2349Arg)
n.8917C>G
c.7235C>G (p.Pro2412Arg)
c.7205C>G (p.Pro2402Arg)
c.7157C>G (p.Pro2386Arg)
c.7124C>G (p.Pro2375Arg)
c.7094C>G (p.Pro2365Arg)
c.7091C>G (p.Pro2364Arg)
c.7043C>G (p.Pro2348Arg)
c.7007C>G (p.Pro2336Arg)
c.7004C>G (p.Pro2335Arg)
c.6959C>G (p.Pro2320Arg)
n.7624C>G
 dbSNP
Xg.77508505G>TCA413704424ATRXc.7325C>A (p.Pro2442Gln)
c.2423C>A (p.Pro808Gln)
c.7211C>A (p.Pro2404Gln)
c.*6953C>A (n.*6953C>A)
n.5645C>A
n.556C>A
c.7322C>A (p.Pro2441Gln)
c.7238C>A (p.Pro2413Gln)
c.7208C>A (p.Pro2403Gln)
c.7160C>A (p.Pro2387Gln)
c.7121C>A (p.Pro2374Gln)
c.7046C>A (p.Pro2349Gln)
n.8917C>A
c.7235C>A (p.Pro2412Gln)
c.7205C>A (p.Pro2402Gln)
c.7157C>A (p.Pro2386Gln)
c.7124C>A (p.Pro2375Gln)
c.7094C>A (p.Pro2365Gln)
c.7091C>A (p.Pro2364Gln)
c.7043C>A (p.Pro2348Gln)
c.7007C>A (p.Pro2336Gln)
c.7004C>A (p.Pro2335Gln)
c.6959C>A (p.Pro2320Gln)
n.7624C>A
 gnomAD v4
Xg.77508506G>ACA413704432ATRXc.7324C>T (p.Pro2442Ser)
c.2422C>T (p.Pro808Ser)
c.7210C>T (p.Pro2404Ser)
c.*6952C>T (n.*6952C>T)
n.5644C>T
n.555C>T
c.7321C>T (p.Pro2441Ser)
c.7237C>T (p.Pro2413Ser)
c.7207C>T (p.Pro2403Ser)
c.7159C>T (p.Pro2387Ser)
c.7120C>T (p.Pro2374Ser)
c.7045C>T (p.Pro2349Ser)
n.8916C>T
c.7234C>T (p.Pro2412Ser)
c.7204C>T (p.Pro2402Ser)
c.7156C>T (p.Pro2386Ser)
c.7123C>T (p.Pro2375Ser)
c.7093C>T (p.Pro2365Ser)
c.7090C>T (p.Pro2364Ser)
c.7042C>T (p.Pro2348Ser)
c.7006C>T (p.Pro2336Ser)
c.7003C>T (p.Pro2335Ser)
c.6958C>T (p.Pro2320Ser)
n.7623C>T
 dbSNP
Xg.77508506G>CCA413704437ATRXc.7324C>G (p.Pro2442Ala)
c.2422C>G (p.Pro808Ala)
c.7210C>G (p.Pro2404Ala)
c.*6952C>G (n.*6952C>G)
n.5644C>G
n.555C>G
c.7321C>G (p.Pro2441Ala)
c.7237C>G (p.Pro2413Ala)
c.7207C>G (p.Pro2403Ala)
c.7159C>G (p.Pro2387Ala)
c.7120C>G (p.Pro2374Ala)
c.7045C>G (p.Pro2349Ala)
n.8916C>G
c.7234C>G (p.Pro2412Ala)
c.7204C>G (p.Pro2402Ala)
c.7156C>G (p.Pro2386Ala)
c.7123C>G (p.Pro2375Ala)
c.7093C>G (p.Pro2365Ala)
c.7090C>G (p.Pro2364Ala)
c.7042C>G (p.Pro2348Ala)
c.7006C>G (p.Pro2336Ala)
c.7003C>G (p.Pro2335Ala)
c.6958C>G (p.Pro2320Ala)
n.7623C>G
 dbSNP
Xg.77508506G>TCA413704434ATRXc.7324C>A (p.Pro2442Thr)
c.2422C>A (p.Pro808Thr)
c.7210C>A (p.Pro2404Thr)
c.*6952C>A (n.*6952C>A)
n.5644C>A
n.555C>A
c.7321C>A (p.Pro2441Thr)
c.7237C>A (p.Pro2413Thr)
c.7207C>A (p.Pro2403Thr)
c.7159C>A (p.Pro2387Thr)
c.7120C>A (p.Pro2374Thr)
c.7045C>A (p.Pro2349Thr)
n.8916C>A
c.7234C>A (p.Pro2412Thr)
c.7204C>A (p.Pro2402Thr)
c.7156C>A (p.Pro2386Thr)
c.7123C>A (p.Pro2375Thr)
c.7093C>A (p.Pro2365Thr)
c.7090C>A (p.Pro2364Thr)
c.7042C>A (p.Pro2348Thr)
c.7006C>A (p.Pro2336Thr)
c.7003C>A (p.Pro2335Thr)
c.6958C>A (p.Pro2320Thr)
n.7623C>A
 dbSNP COSMIC COSMIC
Xg.77508507G>ACA517374126ATRXc.7323C>T (p.Pro2441=)
c.2421C>T (p.Pro807=)
c.7209C>T (p.Pro2403=)
c.*6951C>T (n.*6951C>T)
n.5643C>T
n.554C>T
c.7320C>T (p.Pro2440=)
c.7236C>T (p.Pro2412=)
c.7206C>T (p.Pro2402=)
c.7158C>T (p.Pro2386=)
c.7119C>T (p.Pro2373=)
c.7044C>T (p.Pro2348=)
n.8915C>T
c.7233C>T (p.Pro2411=)
c.7203C>T (p.Pro2401=)
c.7155C>T (p.Pro2385=)
c.7122C>T (p.Pro2374=)
c.7092C>T (p.Pro2364=)
c.7089C>T (p.Pro2363=)
c.7041C>T (p.Pro2347=)
c.7005C>T (p.Pro2335=)
c.7002C>T (p.Pro2334=)
c.6957C>T (p.Pro2319=)
n.7622C>T
 dbSNP gnomAD v4
Xg.77508507G>CCA517374127ATRXc.7323C>G (p.Pro2441=)
c.2421C>G (p.Pro807=)
c.7209C>G (p.Pro2403=)
c.*6951C>G (n.*6951C>G)
n.5643C>G
n.554C>G
c.7320C>G (p.Pro2440=)
c.7236C>G (p.Pro2412=)
c.7206C>G (p.Pro2402=)
c.7158C>G (p.Pro2386=)
c.7119C>G (p.Pro2373=)
c.7044C>G (p.Pro2348=)
n.8915C>G
c.7233C>G (p.Pro2411=)
c.7203C>G (p.Pro2401=)
c.7155C>G (p.Pro2385=)
c.7122C>G (p.Pro2374=)
c.7092C>G (p.Pro2364=)
c.7089C>G (p.Pro2363=)
c.7041C>G (p.Pro2347=)
c.7005C>G (p.Pro2335=)
c.7002C>G (p.Pro2334=)
c.6957C>G (p.Pro2319=)
n.7622C>G
Xg.77508507G=CA2438929057ATRXc.7323C= (p.Pro2441=)
c.2421C= (p.Pro807=)
c.7209C= (p.Pro2403=)
c.*6951C= (n.*6951C=)
n.5643C=
n.554C=
c.7320C= (p.Pro2440=)
c.7236C= (p.Pro2412=)
c.7206C= (p.Pro2402=)
c.7158C= (p.Pro2386=)
c.7119C= (p.Pro2373=)
c.7044C= (p.Pro2348=)
n.8915C=
c.7233C= (p.Pro2411=)
c.7203C= (p.Pro2401=)
c.7155C= (p.Pro2385=)
c.7122C= (p.Pro2374=)
c.7092C= (p.Pro2364=)
c.7089C= (p.Pro2363=)
c.7041C= (p.Pro2347=)
c.7005C= (p.Pro2335=)
c.7002C= (p.Pro2334=)
c.6957C= (p.Pro2319=)
n.7622C=
Xg.77508507G>TCA517374128ATRXc.7323C>A (p.Pro2441=)
c.2421C>A (p.Pro807=)
c.7209C>A (p.Pro2403=)
c.*6951C>A (n.*6951C>A)
n.5643C>A
n.554C>A
c.7320C>A (p.Pro2440=)
c.7236C>A (p.Pro2412=)
c.7206C>A (p.Pro2402=)
c.7158C>A (p.Pro2386=)
c.7119C>A (p.Pro2373=)
c.7044C>A (p.Pro2348=)
n.8915C>A
c.7233C>A (p.Pro2411=)
c.7203C>A (p.Pro2401=)
c.7155C>A (p.Pro2385=)
c.7122C>A (p.Pro2374=)
c.7092C>A (p.Pro2364=)
c.7089C>A (p.Pro2363=)
c.7041C>A (p.Pro2347=)
c.7005C>A (p.Pro2335=)
c.7002C>A (p.Pro2334=)
c.6957C>A (p.Pro2319=)
n.7622C>A
 dbSNP
Xg.77508508G>ACA413704441ATRXc.7322C>T (p.Pro2441Leu)
c.2420C>T (p.Pro807Leu)
c.7208C>T (p.Pro2403Leu)
c.*6950C>T (n.*6950C>T)
n.5642C>T
n.553C>T
c.7319C>T (p.Pro2440Leu)
c.7235C>T (p.Pro2412Leu)
c.7205C>T (p.Pro2402Leu)
c.7157C>T (p.Pro2386Leu)
c.7118C>T (p.Pro2373Leu)
c.7043C>T (p.Pro2348Leu)
n.8914C>T
c.7232C>T (p.Pro2411Leu)
c.7202C>T (p.Pro2401Leu)
c.7154C>T (p.Pro2385Leu)
c.7121C>T (p.Pro2374Leu)
c.7091C>T (p.Pro2364Leu)
c.7088C>T (p.Pro2363Leu)
c.7040C>T (p.Pro2347Leu)
c.7004C>T (p.Pro2335Leu)
c.7001C>T (p.Pro2334Leu)
c.6956C>T (p.Pro2319Leu)
n.7621C>T
 dbSNP gnomAD v4
Xg.77508508G>CCA413704447ATRXc.7322C>G (p.Pro2441Arg)
c.2420C>G (p.Pro807Arg)
c.7208C>G (p.Pro2403Arg)
c.*6950C>G (n.*6950C>G)
n.5642C>G
n.553C>G
c.7319C>G (p.Pro2440Arg)
c.7235C>G (p.Pro2412Arg)
c.7205C>G (p.Pro2402Arg)
c.7157C>G (p.Pro2386Arg)
c.7118C>G (p.Pro2373Arg)
c.7043C>G (p.Pro2348Arg)
n.8914C>G
c.7232C>G (p.Pro2411Arg)
c.7202C>G (p.Pro2401Arg)
c.7154C>G (p.Pro2385Arg)
c.7121C>G (p.Pro2374Arg)
c.7091C>G (p.Pro2364Arg)
c.7088C>G (p.Pro2363Arg)
c.7040C>G (p.Pro2347Arg)
c.7004C>G (p.Pro2335Arg)
c.7001C>G (p.Pro2334Arg)
c.6956C>G (p.Pro2319Arg)
n.7621C>G
 dbSNP
Xg.77508508G>TCA413704444ATRXc.7322C>A (p.Pro2441His)
c.2420C>A (p.Pro807His)
c.7208C>A (p.Pro2403His)
c.*6950C>A (n.*6950C>A)
n.5642C>A
n.553C>A
c.7319C>A (p.Pro2440His)
c.7235C>A (p.Pro2412His)
c.7205C>A (p.Pro2402His)
c.7157C>A (p.Pro2386His)
c.7118C>A (p.Pro2373His)
c.7043C>A (p.Pro2348His)
n.8914C>A
c.7232C>A (p.Pro2411His)
c.7202C>A (p.Pro2401His)
c.7154C>A (p.Pro2385His)
c.7121C>A (p.Pro2374His)
c.7091C>A (p.Pro2364His)
c.7088C>A (p.Pro2363His)
c.7040C>A (p.Pro2347His)
c.7004C>A (p.Pro2335His)
c.7001C>A (p.Pro2334His)
c.6956C>A (p.Pro2319His)
n.7621C>A
 dbSNP
Xg.77508509G>ACA413704451ATRXc.7321C>T (p.Pro2441Ser)
c.2419C>T (p.Pro807Ser)
c.7207C>T (p.Pro2403Ser)
c.*6949C>T (n.*6949C>T)
n.5641C>T
n.552C>T
c.7318C>T (p.Pro2440Ser)
c.7234C>T (p.Pro2412Ser)
c.7204C>T (p.Pro2402Ser)
c.7156C>T (p.Pro2386Ser)
c.7117C>T (p.Pro2373Ser)
c.7042C>T (p.Pro2348Ser)
n.8913C>T
c.7231C>T (p.Pro2411Ser)
c.7201C>T (p.Pro2401Ser)
c.7153C>T (p.Pro2385Ser)
c.7120C>T (p.Pro2374Ser)
c.7090C>T (p.Pro2364Ser)
c.7087C>T (p.Pro2363Ser)
c.7039C>T (p.Pro2347Ser)
c.7003C>T (p.Pro2335Ser)
c.7000C>T (p.Pro2334Ser)
c.6955C>T (p.Pro2319Ser)
n.7620C>T
 dbSNP
Xg.77508509G>CCA413704457ATRXc.7321C>G (p.Pro2441Ala)
c.2419C>G (p.Pro807Ala)
c.7207C>G (p.Pro2403Ala)
c.*6949C>G (n.*6949C>G)
n.5641C>G
n.552C>G
c.7318C>G (p.Pro2440Ala)
c.7234C>G (p.Pro2412Ala)
c.7204C>G (p.Pro2402Ala)
c.7156C>G (p.Pro2386Ala)
c.7117C>G (p.Pro2373Ala)
c.7042C>G (p.Pro2348Ala)
n.8913C>G
c.7231C>G (p.Pro2411Ala)
c.7201C>G (p.Pro2401Ala)
c.7153C>G (p.Pro2385Ala)
c.7120C>G (p.Pro2374Ala)
c.7090C>G (p.Pro2364Ala)
c.7087C>G (p.Pro2363Ala)
c.7039C>G (p.Pro2347Ala)
c.7003C>G (p.Pro2335Ala)
c.7000C>G (p.Pro2334Ala)
c.6955C>G (p.Pro2319Ala)
n.7620C>G
 dbSNP
Xg.77508509G>TCA413704454ATRXc.7321C>A (p.Pro2441Thr)
c.2419C>A (p.Pro807Thr)
c.7207C>A (p.Pro2403Thr)
c.*6949C>A (n.*6949C>A)
n.5641C>A
n.552C>A
c.7318C>A (p.Pro2440Thr)
c.7234C>A (p.Pro2412Thr)
c.7204C>A (p.Pro2402Thr)
c.7156C>A (p.Pro2386Thr)
c.7117C>A (p.Pro2373Thr)
c.7042C>A (p.Pro2348Thr)
n.8913C>A
c.7231C>A (p.Pro2411Thr)
c.7201C>A (p.Pro2401Thr)
c.7153C>A (p.Pro2385Thr)
c.7120C>A (p.Pro2374Thr)
c.7090C>A (p.Pro2364Thr)
c.7087C>A (p.Pro2363Thr)
c.7039C>A (p.Pro2347Thr)
c.7003C>A (p.Pro2335Thr)
c.7000C>A (p.Pro2334Thr)
c.6955C>A (p.Pro2319Thr)
n.7620C>A
Xg.77508510C>ACA413704459ATRXc.7320G>T (p.Lys2440Asn)
c.2418G>T (p.Lys806Asn)
c.7206G>T (p.Lys2402Asn)
c.*6948G>T (n.*6948G>T)
n.5640G>T
n.551G>T
c.7317G>T (p.Lys2439Asn)
c.7233G>T (p.Lys2411Asn)
c.7203G>T (p.Lys2401Asn)
c.7155G>T (p.Lys2385Asn)
c.7116G>T (p.Lys2372Asn)
c.7041G>T (p.Lys2347Asn)
n.8912G>T
c.7230G>T (p.Lys2410Asn)
c.7200G>T (p.Lys2400Asn)
c.7152G>T (p.Lys2384Asn)
c.7119G>T (p.Lys2373Asn)
c.7089G>T (p.Lys2363Asn)
c.7086G>T (p.Lys2362Asn)
c.7038G>T (p.Lys2346Asn)
c.7002G>T (p.Lys2334Asn)
c.6999G>T (p.Lys2333Asn)
c.6954G>T (p.Lys2318Asn)
n.7619G>T
Xg.77508510C=CA2438929058ATRXc.7320G= (p.Lys2440=)
c.2418G= (p.Lys806=)
c.7206G= (p.Lys2402=)
c.*6948G= (n.*6948G=)
n.5640G=
n.551G=
c.7317G= (p.Lys2439=)
c.7233G= (p.Lys2411=)
c.7203G= (p.Lys2401=)
c.7155G= (p.Lys2385=)
c.7116G= (p.Lys2372=)
c.7041G= (p.Lys2347=)
n.8912G=
c.7230G= (p.Lys2410=)
c.7200G= (p.Lys2400=)
c.7152G= (p.Lys2384=)
c.7119G= (p.Lys2373=)
c.7089G= (p.Lys2363=)
c.7086G= (p.Lys2362=)
c.7038G= (p.Lys2346=)
c.7002G= (p.Lys2334=)
c.6999G= (p.Lys2333=)
c.6954G= (p.Lys2318=)
n.7619G=
Xg.77508510C>GCA413704463ATRXc.7320G>C (p.Lys2440Asn)
c.2418G>C (p.Lys806Asn)
c.7206G>C (p.Lys2402Asn)
c.*6948G>C (n.*6948G>C)
n.5640G>C
n.551G>C
c.7317G>C (p.Lys2439Asn)
c.7233G>C (p.Lys2411Asn)
c.7203G>C (p.Lys2401Asn)
c.7155G>C (p.Lys2385Asn)
c.7116G>C (p.Lys2372Asn)
c.7041G>C (p.Lys2347Asn)
n.8912G>C
c.7230G>C (p.Lys2410Asn)
c.7200G>C (p.Lys2400Asn)
c.7152G>C (p.Lys2384Asn)
c.7119G>C (p.Lys2373Asn)
c.7089G>C (p.Lys2363Asn)
c.7086G>C (p.Lys2362Asn)
c.7038G>C (p.Lys2346Asn)
c.7002G>C (p.Lys2334Asn)
c.6999G>C (p.Lys2333Asn)
c.6954G>C (p.Lys2318Asn)
n.7619G>C
 dbSNP
Xg.77508510C>TCA10457396ATRXc.7320G>A (p.Lys2440=)
c.2418G>A (p.Lys806=)
c.7206G>A (p.Lys2402=)
c.*6948G>A (n.*6948G>A)
n.5640G>A
n.551G>A
c.7317G>A (p.Lys2439=)
c.7233G>A (p.Lys2411=)
c.7203G>A (p.Lys2401=)
c.7155G>A (p.Lys2385=)
c.7116G>A (p.Lys2372=)
c.7041G>A (p.Lys2347=)
n.8912G>A
c.7230G>A (p.Lys2410=)
c.7200G>A (p.Lys2400=)
c.7152G>A (p.Lys2384=)
c.7119G>A (p.Lys2373=)
c.7089G>A (p.Lys2363=)
c.7086G>A (p.Lys2362=)
c.7038G>A (p.Lys2346=)
c.7002G>A (p.Lys2334=)
c.6999G>A (p.Lys2333=)
c.6954G>A (p.Lys2318=)
n.7619G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508511T>ACA413704470ATRXc.7319A>T (p.Lys2440Met)
c.2417A>T (p.Lys806Met)
c.7205A>T (p.Lys2402Met)
c.*6947A>T (n.*6947A>T)
n.5639A>T
n.550A>T
c.7316A>T (p.Lys2439Met)
c.7232A>T (p.Lys2411Met)
c.7202A>T (p.Lys2401Met)
c.7154A>T (p.Lys2385Met)
c.7115A>T (p.Lys2372Met)
c.7040A>T (p.Lys2347Met)
n.8911A>T
c.7229A>T (p.Lys2410Met)
c.7199A>T (p.Lys2400Met)
c.7151A>T (p.Lys2384Met)
c.7118A>T (p.Lys2373Met)
c.7088A>T (p.Lys2363Met)
c.7085A>T (p.Lys2362Met)
c.7037A>T (p.Lys2346Met)
c.7001A>T (p.Lys2334Met)
c.6998A>T (p.Lys2333Met)
c.6953A>T (p.Lys2318Met)
n.7618A>T
 dbSNP
Xg.77508511T>CCA413704473ATRXc.7319A>G (p.Lys2440Arg)
c.2417A>G (p.Lys806Arg)
c.7205A>G (p.Lys2402Arg)
c.*6947A>G (n.*6947A>G)
n.5639A>G
n.550A>G
c.7316A>G (p.Lys2439Arg)
c.7232A>G (p.Lys2411Arg)
c.7202A>G (p.Lys2401Arg)
c.7154A>G (p.Lys2385Arg)
c.7115A>G (p.Lys2372Arg)
c.7040A>G (p.Lys2347Arg)
n.8911A>G
c.7229A>G (p.Lys2410Arg)
c.7199A>G (p.Lys2400Arg)
c.7151A>G (p.Lys2384Arg)
c.7118A>G (p.Lys2373Arg)
c.7088A>G (p.Lys2363Arg)
c.7085A>G (p.Lys2362Arg)
c.7037A>G (p.Lys2346Arg)
c.7001A>G (p.Lys2334Arg)
c.6998A>G (p.Lys2333Arg)
c.6953A>G (p.Lys2318Arg)
n.7618A>G
Xg.77508511T>GCA413704476ATRXc.7319A>C (p.Lys2440Thr)
c.2417A>C (p.Lys806Thr)
c.7205A>C (p.Lys2402Thr)
c.*6947A>C (n.*6947A>C)
n.5639A>C
n.550A>C
c.7316A>C (p.Lys2439Thr)
c.7232A>C (p.Lys2411Thr)
c.7202A>C (p.Lys2401Thr)
c.7154A>C (p.Lys2385Thr)
c.7115A>C (p.Lys2372Thr)
c.7040A>C (p.Lys2347Thr)
n.8911A>C
c.7229A>C (p.Lys2410Thr)
c.7199A>C (p.Lys2400Thr)
c.7151A>C (p.Lys2384Thr)
c.7118A>C (p.Lys2373Thr)
c.7088A>C (p.Lys2363Thr)
c.7085A>C (p.Lys2362Thr)
c.7037A>C (p.Lys2346Thr)
c.7001A>C (p.Lys2334Thr)
c.6998A>C (p.Lys2333Thr)
c.6953A>C (p.Lys2318Thr)
n.7618A>C
 dbSNP
Xg.77508512T>ACA413704486ATRXc.7318A>T (p.Lys2440Ter)
c.2416A>T (p.Lys806Ter)
c.7204A>T (p.Lys2402Ter)
c.*6946A>T (n.*6946A>T)
n.5638A>T
n.549A>T
c.7315A>T (p.Lys2439Ter)
c.7231A>T (p.Lys2411Ter)
c.7201A>T (p.Lys2401Ter)
c.7153A>T (p.Lys2385Ter)
c.7114A>T (p.Lys2372Ter)
c.7039A>T (p.Lys2347Ter)
n.8910A>T
c.7228A>T (p.Lys2410Ter)
c.7198A>T (p.Lys2400Ter)
c.7150A>T (p.Lys2384Ter)
c.7117A>T (p.Lys2373Ter)
c.7087A>T (p.Lys2363Ter)
c.7084A>T (p.Lys2362Ter)
c.7036A>T (p.Lys2346Ter)
c.7000A>T (p.Lys2334Ter)
c.6997A>T (p.Lys2333Ter)
c.6952A>T (p.Lys2318Ter)
n.7617A>T
Xg.77508512T>CCA413704491ATRXc.7318A>G (p.Lys2440Glu)
c.2416A>G (p.Lys806Glu)
c.7204A>G (p.Lys2402Glu)
c.*6946A>G (n.*6946A>G)
n.5638A>G
n.549A>G
c.7315A>G (p.Lys2439Glu)
c.7231A>G (p.Lys2411Glu)
c.7201A>G (p.Lys2401Glu)
c.7153A>G (p.Lys2385Glu)
c.7114A>G (p.Lys2372Glu)
c.7039A>G (p.Lys2347Glu)
n.8910A>G
c.7228A>G (p.Lys2410Glu)
c.7198A>G (p.Lys2400Glu)
c.7150A>G (p.Lys2384Glu)
c.7117A>G (p.Lys2373Glu)
c.7087A>G (p.Lys2363Glu)
c.7084A>G (p.Lys2362Glu)
c.7036A>G (p.Lys2346Glu)
c.7000A>G (p.Lys2334Glu)
c.6997A>G (p.Lys2333Glu)
c.6952A>G (p.Lys2318Glu)
n.7617A>G
 dbSNP
Xg.77508512T>GCA413704495ATRXc.7318A>C (p.Lys2440Gln)
c.2416A>C (p.Lys806Gln)
c.7204A>C (p.Lys2402Gln)
c.*6946A>C (n.*6946A>C)
n.5638A>C
n.549A>C
c.7315A>C (p.Lys2439Gln)
c.7231A>C (p.Lys2411Gln)
c.7201A>C (p.Lys2401Gln)
c.7153A>C (p.Lys2385Gln)
c.7114A>C (p.Lys2372Gln)
c.7039A>C (p.Lys2347Gln)
n.8910A>C
c.7228A>C (p.Lys2410Gln)
c.7198A>C (p.Lys2400Gln)
c.7150A>C (p.Lys2384Gln)
c.7117A>C (p.Lys2373Gln)
c.7087A>C (p.Lys2363Gln)
c.7084A>C (p.Lys2362Gln)
c.7036A>C (p.Lys2346Gln)
c.7000A>C (p.Lys2334Gln)
c.6997A>C (p.Lys2333Gln)
c.6952A>C (p.Lys2318Gln)
n.7617A>C
 gnomAD v4
Xg.77508513T>ACA517374132ATRXc.7317A>T (p.Pro2439=)
c.2415A>T (p.Pro805=)
c.7203A>T (p.Pro2401=)
c.*6945A>T (n.*6945A>T)
n.5637A>T
n.548A>T
c.7314A>T (p.Pro2438=)
c.7230A>T (p.Pro2410=)
c.7200A>T (p.Pro2400=)
c.7152A>T (p.Pro2384=)
c.7113A>T (p.Pro2371=)
c.7038A>T (p.Pro2346=)
n.8909A>T
c.7227A>T (p.Pro2409=)
c.7197A>T (p.Pro2399=)
c.7149A>T (p.Pro2383=)
c.7116A>T (p.Pro2372=)
c.7086A>T (p.Pro2362=)
c.7083A>T (p.Pro2361=)
c.7035A>T (p.Pro2345=)
c.6999A>T (p.Pro2333=)
c.6996A>T (p.Pro2332=)
c.6951A>T (p.Pro2317=)
n.7616A>T
Xg.77508513T>CCA517374133ATRXc.7317A>G (p.Pro2439=)
c.2415A>G (p.Pro805=)
c.7203A>G (p.Pro2401=)
c.*6945A>G (n.*6945A>G)
n.5637A>G
n.548A>G
c.7314A>G (p.Pro2438=)
c.7230A>G (p.Pro2410=)
c.7200A>G (p.Pro2400=)
c.7152A>G (p.Pro2384=)
c.7113A>G (p.Pro2371=)
c.7038A>G (p.Pro2346=)
n.8909A>G
c.7227A>G (p.Pro2409=)
c.7197A>G (p.Pro2399=)
c.7149A>G (p.Pro2383=)
c.7116A>G (p.Pro2372=)
c.7086A>G (p.Pro2362=)
c.7083A>G (p.Pro2361=)
c.7035A>G (p.Pro2345=)
c.6999A>G (p.Pro2333=)
c.6996A>G (p.Pro2332=)
c.6951A>G (p.Pro2317=)
n.7616A>G
Xg.77508513T>GCA517374134ATRXc.7317A>C (p.Pro2439=)
c.2415A>C (p.Pro805=)
c.7203A>C (p.Pro2401=)
c.*6945A>C (n.*6945A>C)
n.5637A>C
n.548A>C
c.7314A>C (p.Pro2438=)
c.7230A>C (p.Pro2410=)
c.7200A>C (p.Pro2400=)
c.7152A>C (p.Pro2384=)
c.7113A>C (p.Pro2371=)
c.7038A>C (p.Pro2346=)
n.8909A>C
c.7227A>C (p.Pro2409=)
c.7197A>C (p.Pro2399=)
c.7149A>C (p.Pro2383=)
c.7116A>C (p.Pro2372=)
c.7086A>C (p.Pro2362=)
c.7083A>C (p.Pro2361=)
c.7035A>C (p.Pro2345=)
c.6999A>C (p.Pro2333=)
c.6996A>C (p.Pro2332=)
c.6951A>C (p.Pro2317=)
n.7616A>C
Xg.77508514G>ACA413704500ATRXc.7316C>T (p.Pro2439Leu)
c.2414C>T (p.Pro805Leu)
c.7202C>T (p.Pro2401Leu)
c.*6944C>T (n.*6944C>T)
n.5636C>T
n.547C>T
c.7313C>T (p.Pro2438Leu)
c.7229C>T (p.Pro2410Leu)
c.7199C>T (p.Pro2400Leu)
c.7151C>T (p.Pro2384Leu)
c.7112C>T (p.Pro2371Leu)
c.7037C>T (p.Pro2346Leu)
n.8908C>T
c.7226C>T (p.Pro2409Leu)
c.7196C>T (p.Pro2399Leu)
c.7148C>T (p.Pro2383Leu)
c.7115C>T (p.Pro2372Leu)
c.7085C>T (p.Pro2362Leu)
c.7082C>T (p.Pro2361Leu)
c.7034C>T (p.Pro2345Leu)
c.6998C>T (p.Pro2333Leu)
c.6995C>T (p.Pro2332Leu)
c.6950C>T (p.Pro2317Leu)
n.7615C>T
Xg.77508514G>CCA10457397ATRXc.7316C>G (p.Pro2439Arg)
c.2414C>G (p.Pro805Arg)
c.7202C>G (p.Pro2401Arg)
c.*6944C>G (n.*6944C>G)
n.5636C>G
n.547C>G
c.7313C>G (p.Pro2438Arg)
c.7229C>G (p.Pro2410Arg)
c.7199C>G (p.Pro2400Arg)
c.7151C>G (p.Pro2384Arg)
c.7112C>G (p.Pro2371Arg)
c.7037C>G (p.Pro2346Arg)
n.8908C>G
c.7226C>G (p.Pro2409Arg)
c.7196C>G (p.Pro2399Arg)
c.7148C>G (p.Pro2383Arg)
c.7115C>G (p.Pro2372Arg)
c.7085C>G (p.Pro2362Arg)
c.7082C>G (p.Pro2361Arg)
c.7034C>G (p.Pro2345Arg)
c.6998C>G (p.Pro2333Arg)
c.6995C>G (p.Pro2332Arg)
c.6950C>G (p.Pro2317Arg)
n.7615C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77508514G=CA2438929059ATRXc.7316C= (p.Pro2439=)
c.2414C= (p.Pro805=)
c.7202C= (p.Pro2401=)
c.*6944C= (n.*6944C=)
n.5636C=
n.547C=
c.7313C= (p.Pro2438=)
c.7229C= (p.Pro2410=)
c.7199C= (p.Pro2400=)
c.7151C= (p.Pro2384=)
c.7112C= (p.Pro2371=)
c.7037C= (p.Pro2346=)
n.8908C=
c.7226C= (p.Pro2409=)
c.7196C= (p.Pro2399=)
c.7148C= (p.Pro2383=)
c.7115C= (p.Pro2372=)
c.7085C= (p.Pro2362=)
c.7082C= (p.Pro2361=)
c.7034C= (p.Pro2345=)
c.6998C= (p.Pro2333=)
c.6995C= (p.Pro2332=)
c.6950C= (p.Pro2317=)
n.7615C=
Xg.77508514G>TCA413704505ATRXc.7316C>A (p.Pro2439Gln)
c.2414C>A (p.Pro805Gln)
c.7202C>A (p.Pro2401Gln)
c.*6944C>A (n.*6944C>A)
n.5636C>A
n.547C>A
c.7313C>A (p.Pro2438Gln)
c.7229C>A (p.Pro2410Gln)
c.7199C>A (p.Pro2400Gln)
c.7151C>A (p.Pro2384Gln)
c.7112C>A (p.Pro2371Gln)
c.7037C>A (p.Pro2346Gln)
n.8908C>A
c.7226C>A (p.Pro2409Gln)
c.7196C>A (p.Pro2399Gln)
c.7148C>A (p.Pro2383Gln)
c.7115C>A (p.Pro2372Gln)
c.7085C>A (p.Pro2362Gln)
c.7082C>A (p.Pro2361Gln)
c.7034C>A (p.Pro2345Gln)
c.6998C>A (p.Pro2333Gln)
c.6995C>A (p.Pro2332Gln)
c.6950C>A (p.Pro2317Gln)
n.7615C>A
 dbSNP
Xg.77508515delCA2738724292ATRXc.7316del (p.Pro2439GlnfsTer6)
c.2414del (p.Pro805GlnfsTer6)
c.7202del (p.Pro2401GlnfsTer6)
c.*6944del (n.*6944del)
n.5636del
n.547del
c.7313del (p.Pro2438GlnfsTer6)
c.7229del (p.Pro2410GlnfsTer6)
c.7199del (p.Pro2400GlnfsTer6)
c.7151del (p.Pro2384GlnfsTer6)
c.7112del (p.Pro2371GlnfsTer6)
c.7037del (p.Pro2346GlnfsTer6)
n.8908del
c.7226del (p.Pro2409GlnfsTer6)
c.7196del (p.Pro2399GlnfsTer6)
c.7148del (p.Pro2383GlnfsTer6)
c.7115del (p.Pro2372GlnfsTer6)
c.7085del (p.Pro2362GlnfsTer6)
c.7082del (p.Pro2361GlnfsTer6)
c.7034del (p.Pro2345GlnfsTer6)
c.6998del (p.Pro2333GlnfsTer6)
c.6995del (p.Pro2332GlnfsTer6)
c.6950del (p.Pro2317GlnfsTer6)
n.7615del
 dbSNP
Xg.77508515G>ACA413704510ATRXc.7315C>T (p.Pro2439Ser)
c.2413C>T (p.Pro805Ser)
c.7201C>T (p.Pro2401Ser)
c.*6943C>T (n.*6943C>T)
n.5635C>T
n.546C>T
c.7312C>T (p.Pro2438Ser)
c.7228C>T (p.Pro2410Ser)
c.7198C>T (p.Pro2400Ser)
c.7150C>T (p.Pro2384Ser)
c.7111C>T (p.Pro2371Ser)
c.7036C>T (p.Pro2346Ser)
n.8907C>T
c.7225C>T (p.Pro2409Ser)
c.7195C>T (p.Pro2399Ser)
c.7147C>T (p.Pro2383Ser)
c.7114C>T (p.Pro2372Ser)
c.7084C>T (p.Pro2362Ser)
c.7081C>T (p.Pro2361Ser)
c.7033C>T (p.Pro2345Ser)
c.6997C>T (p.Pro2333Ser)
c.6994C>T (p.Pro2332Ser)
c.6949C>T (p.Pro2317Ser)
n.7614C>T
 dbSNP
Xg.77508515G>CCA413704515ATRXc.7315C>G (p.Pro2439Ala)
c.2413C>G (p.Pro805Ala)
c.7201C>G (p.Pro2401Ala)
c.*6943C>G (n.*6943C>G)
n.5635C>G
n.546C>G
c.7312C>G (p.Pro2438Ala)
c.7228C>G (p.Pro2410Ala)
c.7198C>G (p.Pro2400Ala)
c.7150C>G (p.Pro2384Ala)
c.7111C>G (p.Pro2371Ala)
c.7036C>G (p.Pro2346Ala)
n.8907C>G
c.7225C>G (p.Pro2409Ala)
c.7195C>G (p.Pro2399Ala)
c.7147C>G (p.Pro2383Ala)
c.7114C>G (p.Pro2372Ala)
c.7084C>G (p.Pro2362Ala)
c.7081C>G (p.Pro2361Ala)
c.7033C>G (p.Pro2345Ala)
c.6997C>G (p.Pro2333Ala)
c.6994C>G (p.Pro2332Ala)
c.6949C>G (p.Pro2317Ala)
n.7614C>G
 dbSNP
Xg.77508515G>TCA413704512ATRXc.7315C>A (p.Pro2439Thr)
c.2413C>A (p.Pro805Thr)
c.7201C>A (p.Pro2401Thr)
c.*6943C>A (n.*6943C>A)
n.5635C>A
n.546C>A
c.7312C>A (p.Pro2438Thr)
c.7228C>A (p.Pro2410Thr)
c.7198C>A (p.Pro2400Thr)
c.7150C>A (p.Pro2384Thr)
c.7111C>A (p.Pro2371Thr)
c.7036C>A (p.Pro2346Thr)
n.8907C>A
c.7225C>A (p.Pro2409Thr)
c.7195C>A (p.Pro2399Thr)
c.7147C>A (p.Pro2383Thr)
c.7114C>A (p.Pro2372Thr)
c.7084C>A (p.Pro2362Thr)
c.7081C>A (p.Pro2361Thr)
c.7033C>A (p.Pro2345Thr)
c.6997C>A (p.Pro2333Thr)
c.6994C>A (p.Pro2332Thr)
c.6949C>A (p.Pro2317Thr)
n.7614C>A
 dbSNP
Xg.77508516C>ACA413704520ATRXc.7314G>T (p.Met2438Ile)
c.2412G>T (p.Met804Ile)
c.7200G>T (p.Met2400Ile)
c.*6942G>T (n.*6942G>T)
n.5634G>T
n.545G>T
c.7311G>T (p.Met2437Ile)
c.7227G>T (p.Met2409Ile)
c.7197G>T (p.Met2399Ile)
c.7149G>T (p.Met2383Ile)
c.7110G>T (p.Met2370Ile)
c.7035G>T (p.Met2345Ile)
n.8906G>T
c.7224G>T (p.Met2408Ile)
c.7194G>T (p.Met2398Ile)
c.7146G>T (p.Met2382Ile)
c.7113G>T (p.Met2371Ile)
c.7083G>T (p.Met2361Ile)
c.7080G>T (p.Met2360Ile)
c.7032G>T (p.Met2344Ile)
c.6996G>T (p.Met2332Ile)
c.6993G>T (p.Met2331Ile)
c.6948G>T (p.Met2316Ile)
n.7613G>T
Xg.77508516C>GCA413704525ATRXc.7314G>C (p.Met2438Ile)
c.2412G>C (p.Met804Ile)
c.7200G>C (p.Met2400Ile)
c.*6942G>C (n.*6942G>C)
n.5634G>C
n.545G>C
c.7311G>C (p.Met2437Ile)
c.7227G>C (p.Met2409Ile)
c.7197G>C (p.Met2399Ile)
c.7149G>C (p.Met2383Ile)
c.7110G>C (p.Met2370Ile)
c.7035G>C (p.Met2345Ile)
n.8906G>C
c.7224G>C (p.Met2408Ile)
c.7194G>C (p.Met2398Ile)
c.7146G>C (p.Met2382Ile)
c.7113G>C (p.Met2371Ile)
c.7083G>C (p.Met2361Ile)
c.7080G>C (p.Met2360Ile)
c.7032G>C (p.Met2344Ile)
c.6996G>C (p.Met2332Ile)
c.6993G>C (p.Met2331Ile)
c.6948G>C (p.Met2316Ile)
n.7613G>C
 dbSNP
Xg.77508516C>TCA413704528ATRXc.7314G>A (p.Met2438Ile)
c.2412G>A (p.Met804Ile)
c.7200G>A (p.Met2400Ile)
c.*6942G>A (n.*6942G>A)
n.5634G>A
n.545G>A
c.7311G>A (p.Met2437Ile)
c.7227G>A (p.Met2409Ile)
c.7197G>A (p.Met2399Ile)
c.7149G>A (p.Met2383Ile)
c.7110G>A (p.Met2370Ile)
c.7035G>A (p.Met2345Ile)
n.8906G>A
c.7224G>A (p.Met2408Ile)
c.7194G>A (p.Met2398Ile)
c.7146G>A (p.Met2382Ile)
c.7113G>A (p.Met2371Ile)
c.7083G>A (p.Met2361Ile)
c.7080G>A (p.Met2360Ile)
c.7032G>A (p.Met2344Ile)
c.6996G>A (p.Met2332Ile)
c.6993G>A (p.Met2331Ile)
c.6948G>A (p.Met2316Ile)
n.7613G>A
 dbSNP
Xg.77508517A>CCA413704532ATRXc.7313T>G (p.Met2438Arg)
c.2411T>G (p.Met804Arg)
c.7199T>G (p.Met2400Arg)
c.*6941T>G (n.*6941T>G)
n.5633T>G
n.544T>G
c.7310T>G (p.Met2437Arg)
c.7226T>G (p.Met2409Arg)
c.7196T>G (p.Met2399Arg)
c.7148T>G (p.Met2383Arg)
c.7109T>G (p.Met2370Arg)
c.7034T>G (p.Met2345Arg)
n.8905T>G
c.7223T>G (p.Met2408Arg)
c.7193T>G (p.Met2398Arg)
c.7145T>G (p.Met2382Arg)
c.7112T>G (p.Met2371Arg)
c.7082T>G (p.Met2361Arg)
c.7079T>G (p.Met2360Arg)
c.7031T>G (p.Met2344Arg)
c.6995T>G (p.Met2332Arg)
c.6992T>G (p.Met2331Arg)
c.6947T>G (p.Met2316Arg)
n.7612T>G
Xg.77508517A>GCA413704533ATRXc.7313T>C (p.Met2438Thr)
c.2411T>C (p.Met804Thr)
c.7199T>C (p.Met2400Thr)
c.*6941T>C (n.*6941T>C)
n.5633T>C
n.544T>C
c.7310T>C (p.Met2437Thr)
c.7226T>C (p.Met2409Thr)
c.7196T>C (p.Met2399Thr)
c.7148T>C (p.Met2383Thr)
c.7109T>C (p.Met2370Thr)
c.7034T>C (p.Met2345Thr)
n.8905T>C
c.7223T>C (p.Met2408Thr)
c.7193T>C (p.Met2398Thr)
c.7145T>C (p.Met2382Thr)
c.7112T>C (p.Met2371Thr)
c.7082T>C (p.Met2361Thr)
c.7079T>C (p.Met2360Thr)
c.7031T>C (p.Met2344Thr)
c.6995T>C (p.Met2332Thr)
c.6992T>C (p.Met2331Thr)
c.6947T>C (p.Met2316Thr)
n.7612T>C
Xg.77508517A>TCA413704534ATRXc.7313T>A (p.Met2438Lys)
c.2411T>A (p.Met804Lys)
c.7199T>A (p.Met2400Lys)
c.*6941T>A (n.*6941T>A)
n.5633T>A
n.544T>A
c.7310T>A (p.Met2437Lys)
c.7226T>A (p.Met2409Lys)
c.7196T>A (p.Met2399Lys)
c.7148T>A (p.Met2383Lys)
c.7109T>A (p.Met2370Lys)
c.7034T>A (p.Met2345Lys)
n.8905T>A
c.7223T>A (p.Met2408Lys)
c.7193T>A (p.Met2398Lys)
c.7145T>A (p.Met2382Lys)
c.7112T>A (p.Met2371Lys)
c.7082T>A (p.Met2361Lys)
c.7079T>A (p.Met2360Lys)
c.7031T>A (p.Met2344Lys)
c.6995T>A (p.Met2332Lys)
c.6992T>A (p.Met2331Lys)
c.6947T>A (p.Met2316Lys)
n.7612T>A
 dbSNP
Xg.77508518T>ACA413704536ATRXc.7312A>T (p.Met2438Leu)
c.2410A>T (p.Met804Leu)
c.7198A>T (p.Met2400Leu)
c.*6940A>T (n.*6940A>T)
n.5632A>T
n.543A>T
c.7309A>T (p.Met2437Leu)
c.7225A>T (p.Met2409Leu)
c.7195A>T (p.Met2399Leu)
c.7147A>T (p.Met2383Leu)
c.7108A>T (p.Met2370Leu)
c.7033A>T (p.Met2345Leu)
n.8904A>T
c.7222A>T (p.Met2408Leu)
c.7192A>T (p.Met2398Leu)
c.7144A>T (p.Met2382Leu)
c.7111A>T (p.Met2371Leu)
c.7081A>T (p.Met2361Leu)
c.7078A>T (p.Met2360Leu)
c.7030A>T (p.Met2344Leu)
c.6994A>T (p.Met2332Leu)
c.6991A>T (p.Met2331Leu)
c.6946A>T (p.Met2316Leu)
n.7611A>T
Xg.77508518T>CCA413704537ATRXc.7312A>G (p.Met2438Val)
c.2410A>G (p.Met804Val)
c.7198A>G (p.Met2400Val)
c.*6940A>G (n.*6940A>G)
n.5632A>G
n.543A>G
c.7309A>G (p.Met2437Val)
c.7225A>G (p.Met2409Val)
c.7195A>G (p.Met2399Val)
c.7147A>G (p.Met2383Val)
c.7108A>G (p.Met2370Val)
c.7033A>G (p.Met2345Val)
n.8904A>G
c.7222A>G (p.Met2408Val)
c.7192A>G (p.Met2398Val)
c.7144A>G (p.Met2382Val)
c.7111A>G (p.Met2371Val)
c.7081A>G (p.Met2361Val)
c.7078A>G (p.Met2360Val)
c.7030A>G (p.Met2344Val)
c.6994A>G (p.Met2332Val)
c.6991A>G (p.Met2331Val)
c.6946A>G (p.Met2316Val)
n.7611A>G
Xg.77508518T>GCA413704541ATRXc.7312A>C (p.Met2438Leu)
c.2410A>C (p.Met804Leu)
c.7198A>C (p.Met2400Leu)
c.*6940A>C (n.*6940A>C)
n.5632A>C
n.543A>C
c.7309A>C (p.Met2437Leu)
c.7225A>C (p.Met2409Leu)
c.7195A>C (p.Met2399Leu)
c.7147A>C (p.Met2383Leu)
c.7108A>C (p.Met2370Leu)
c.7033A>C (p.Met2345Leu)
n.8904A>C
c.7222A>C (p.Met2408Leu)
c.7192A>C (p.Met2398Leu)
c.7144A>C (p.Met2382Leu)
c.7111A>C (p.Met2371Leu)
c.7081A>C (p.Met2361Leu)
c.7078A>C (p.Met2360Leu)
c.7030A>C (p.Met2344Leu)
c.6994A>C (p.Met2332Leu)
c.6991A>C (p.Met2331Leu)
c.6946A>C (p.Met2316Leu)
n.7611A>C
Xg.77508519C>ACA413704550ATRXc.7311G>T (p.Met2437Ile)
c.2409G>T (p.Met803Ile)
c.7197G>T (p.Met2399Ile)
c.*6939G>T (n.*6939G>T)
n.5631G>T
n.542G>T
c.7308G>T (p.Met2436Ile)
c.7224G>T (p.Met2408Ile)
c.7194G>T (p.Met2398Ile)
c.7146G>T (p.Met2382Ile)
c.7107G>T (p.Met2369Ile)
c.7032G>T (p.Met2344Ile)
n.8903G>T
c.7221G>T (p.Met2407Ile)
c.7191G>T (p.Met2397Ile)
c.7143G>T (p.Met2381Ile)
c.7110G>T (p.Met2370Ile)
c.7080G>T (p.Met2360Ile)
c.7077G>T (p.Met2359Ile)
c.7029G>T (p.Met2343Ile)
c.6993G>T (p.Met2331Ile)
c.6990G>T (p.Met2330Ile)
c.6945G>T (p.Met2315Ile)
n.7610G>T
Xg.77508519C=CA2438929060ATRXc.7311G= (p.Met2437=)
c.2409G= (p.Met803=)
c.7197G= (p.Met2399=)
c.*6939G= (n.*6939G=)
n.5631G=
n.542G=
c.7308G= (p.Met2436=)
c.7224G= (p.Met2408=)
c.7194G= (p.Met2398=)
c.7146G= (p.Met2382=)
c.7107G= (p.Met2369=)
c.7032G= (p.Met2344=)
n.8903G=
c.7221G= (p.Met2407=)
c.7191G= (p.Met2397=)
c.7143G= (p.Met2381=)
c.7110G= (p.Met2370=)
c.7080G= (p.Met2360=)
c.7077G= (p.Met2359=)
c.7029G= (p.Met2343=)
c.6993G= (p.Met2331=)
c.6990G= (p.Met2330=)
c.6945G= (p.Met2315=)
n.7610G=
Xg.77508519C>GCA413704548ATRXc.7311G>C (p.Met2437Ile)
c.2409G>C (p.Met803Ile)
c.7197G>C (p.Met2399Ile)
c.*6939G>C (n.*6939G>C)
n.5631G>C
n.542G>C
c.7308G>C (p.Met2436Ile)
c.7224G>C (p.Met2408Ile)
c.7194G>C (p.Met2398Ile)
c.7146G>C (p.Met2382Ile)
c.7107G>C (p.Met2369Ile)
c.7032G>C (p.Met2344Ile)
n.8903G>C
c.7221G>C (p.Met2407Ile)
c.7191G>C (p.Met2397Ile)
c.7143G>C (p.Met2381Ile)
c.7110G>C (p.Met2370Ile)
c.7080G>C (p.Met2360Ile)
c.7077G>C (p.Met2359Ile)
c.7029G>C (p.Met2343Ile)
c.6993G>C (p.Met2331Ile)
c.6990G>C (p.Met2330Ile)
c.6945G>C (p.Met2315Ile)
n.7610G>C
 dbSNP
Xg.77508519C>TCA413704545ATRXc.7311G>A (p.Met2437Ile)
c.2409G>A (p.Met803Ile)
c.7197G>A (p.Met2399Ile)
c.*6939G>A (n.*6939G>A)
n.5631G>A
n.542G>A
c.7308G>A (p.Met2436Ile)
c.7224G>A (p.Met2408Ile)
c.7194G>A (p.Met2398Ile)
c.7146G>A (p.Met2382Ile)
c.7107G>A (p.Met2369Ile)
c.7032G>A (p.Met2344Ile)
n.8903G>A
c.7221G>A (p.Met2407Ile)
c.7191G>A (p.Met2397Ile)
c.7143G>A (p.Met2381Ile)
c.7110G>A (p.Met2370Ile)
c.7080G>A (p.Met2360Ile)
c.7077G>A (p.Met2359Ile)
c.7029G>A (p.Met2343Ile)
c.6993G>A (p.Met2331Ile)
c.6990G>A (p.Met2330Ile)
c.6945G>A (p.Met2315Ile)
n.7610G>A
 dbSNP
Xg.77508520A>CCA413704554ATRXc.7310T>G (p.Met2437Arg)
c.2408T>G (p.Met803Arg)
c.7196T>G (p.Met2399Arg)
c.*6938T>G (n.*6938T>G)
n.5630T>G
n.541T>G
c.7307T>G (p.Met2436Arg)
c.7223T>G (p.Met2408Arg)
c.7193T>G (p.Met2398Arg)
c.7145T>G (p.Met2382Arg)
c.7106T>G (p.Met2369Arg)
c.7031T>G (p.Met2344Arg)
n.8902T>G
c.7220T>G (p.Met2407Arg)
c.7190T>G (p.Met2397Arg)
c.7142T>G (p.Met2381Arg)
c.7109T>G (p.Met2370Arg)
c.7079T>G (p.Met2360Arg)
c.7076T>G (p.Met2359Arg)
c.7028T>G (p.Met2343Arg)
c.6992T>G (p.Met2331Arg)
c.6989T>G (p.Met2330Arg)
c.6944T>G (p.Met2315Arg)
n.7609T>G
Xg.77508520A>GCA413704556ATRXc.7310T>C (p.Met2437Thr)
c.2408T>C (p.Met803Thr)
c.7196T>C (p.Met2399Thr)
c.*6938T>C (n.*6938T>C)
n.5630T>C
n.541T>C
c.7307T>C (p.Met2436Thr)
c.7223T>C (p.Met2408Thr)
c.7193T>C (p.Met2398Thr)
c.7145T>C (p.Met2382Thr)
c.7106T>C (p.Met2369Thr)
c.7031T>C (p.Met2344Thr)
n.8902T>C
c.7220T>C (p.Met2407Thr)
c.7190T>C (p.Met2397Thr)
c.7142T>C (p.Met2381Thr)
c.7109T>C (p.Met2370Thr)
c.7079T>C (p.Met2360Thr)
c.7076T>C (p.Met2359Thr)
c.7028T>C (p.Met2343Thr)
c.6992T>C (p.Met2331Thr)
c.6989T>C (p.Met2330Thr)
c.6944T>C (p.Met2315Thr)
n.7609T>C
Xg.77508520A>TCA413704560ATRXc.7310T>A (p.Met2437Lys)
c.2408T>A (p.Met803Lys)
c.7196T>A (p.Met2399Lys)
c.*6938T>A (n.*6938T>A)
n.5630T>A
n.541T>A
c.7307T>A (p.Met2436Lys)
c.7223T>A (p.Met2408Lys)
c.7193T>A (p.Met2398Lys)
c.7145T>A (p.Met2382Lys)
c.7106T>A (p.Met2369Lys)
c.7031T>A (p.Met2344Lys)
n.8902T>A
c.7220T>A (p.Met2407Lys)
c.7190T>A (p.Met2397Lys)
c.7142T>A (p.Met2381Lys)
c.7109T>A (p.Met2370Lys)
c.7079T>A (p.Met2360Lys)
c.7076T>A (p.Met2359Lys)
c.7028T>A (p.Met2343Lys)
c.6992T>A (p.Met2331Lys)
c.6989T>A (p.Met2330Lys)
c.6944T>A (p.Met2315Lys)
n.7609T>A
 dbSNP
Xg.77508521T>ACA413704562ATRXc.7309A>T (p.Met2437Leu)
c.2407A>T (p.Met803Leu)
c.7195A>T (p.Met2399Leu)
c.*6937A>T (n.*6937A>T)
n.5629A>T
n.540A>T
c.7306A>T (p.Met2436Leu)
c.7222A>T (p.Met2408Leu)
c.7192A>T (p.Met2398Leu)
c.7144A>T (p.Met2382Leu)
c.7105A>T (p.Met2369Leu)
c.7030A>T (p.Met2344Leu)
n.8901A>T
c.7219A>T (p.Met2407Leu)
c.7189A>T (p.Met2397Leu)
c.7141A>T (p.Met2381Leu)
c.7108A>T (p.Met2370Leu)
c.7078A>T (p.Met2360Leu)
c.7075A>T (p.Met2359Leu)
c.7027A>T (p.Met2343Leu)
c.6991A>T (p.Met2331Leu)
c.6988A>T (p.Met2330Leu)
c.6943A>T (p.Met2315Leu)
n.7608A>T
Xg.77508521T>CCA413704564ATRXc.7309A>G (p.Met2437Val)
c.2407A>G (p.Met803Val)
c.7195A>G (p.Met2399Val)
c.*6937A>G (n.*6937A>G)
n.5629A>G
n.540A>G
c.7306A>G (p.Met2436Val)
c.7222A>G (p.Met2408Val)
c.7192A>G (p.Met2398Val)
c.7144A>G (p.Met2382Val)
c.7105A>G (p.Met2369Val)
c.7030A>G (p.Met2344Val)
n.8901A>G
c.7219A>G (p.Met2407Val)
c.7189A>G (p.Met2397Val)
c.7141A>G (p.Met2381Val)
c.7108A>G (p.Met2370Val)
c.7078A>G (p.Met2360Val)
c.7075A>G (p.Met2359Val)
c.7027A>G (p.Met2343Val)
c.6991A>G (p.Met2331Val)
c.6988A>G (p.Met2330Val)
c.6943A>G (p.Met2315Val)
n.7608A>G
 dbSNP
Xg.77508521T>GCA413704567ATRXc.7309A>C (p.Met2437Leu)
c.2407A>C (p.Met803Leu)
c.7195A>C (p.Met2399Leu)
c.*6937A>C (n.*6937A>C)
n.5629A>C
n.540A>C
c.7306A>C (p.Met2436Leu)
c.7222A>C (p.Met2408Leu)
c.7192A>C (p.Met2398Leu)
c.7144A>C (p.Met2382Leu)
c.7105A>C (p.Met2369Leu)
c.7030A>C (p.Met2344Leu)
n.8901A>C
c.7219A>C (p.Met2407Leu)
c.7189A>C (p.Met2397Leu)
c.7141A>C (p.Met2381Leu)
c.7108A>C (p.Met2370Leu)
c.7078A>C (p.Met2360Leu)
c.7075A>C (p.Met2359Leu)
c.7027A>C (p.Met2343Leu)
c.6991A>C (p.Met2331Leu)
c.6988A>C (p.Met2330Leu)
c.6943A>C (p.Met2315Leu)
n.7608A>C
 ClinVar gnomAD v4
Xg.77508522G>ACA517374142ATRXc.7308C>T (p.Leu2436=)
c.2406C>T (p.Leu802=)
c.7194C>T (p.Leu2398=)
c.*6936C>T (n.*6936C>T)
n.5628C>T
n.539C>T
c.7305C>T (p.Leu2435=)
c.7221C>T (p.Leu2407=)
c.7191C>T (p.Leu2397=)
c.7143C>T (p.Leu2381=)
c.7104C>T (p.Leu2368=)
c.7029C>T (p.Leu2343=)
n.8900C>T
c.7218C>T (p.Leu2406=)
c.7188C>T (p.Leu2396=)
c.7140C>T (p.Leu2380=)
c.7107C>T (p.Leu2369=)
c.7077C>T (p.Leu2359=)
c.7074C>T (p.Leu2358=)
c.7026C>T (p.Leu2342=)
c.6990C>T (p.Leu2330=)
c.6987C>T (p.Leu2329=)
c.6942C>T (p.Leu2314=)
n.7607C>T
 dbSNP
Xg.77508522G>CCA517374140ATRXc.7308C>G (p.Leu2436=)
c.2406C>G (p.Leu802=)
c.7194C>G (p.Leu2398=)
c.*6936C>G (n.*6936C>G)
n.5628C>G
n.539C>G
c.7305C>G (p.Leu2435=)
c.7221C>G (p.Leu2407=)
c.7191C>G (p.Leu2397=)
c.7143C>G (p.Leu2381=)
c.7104C>G (p.Leu2368=)
c.7029C>G (p.Leu2343=)
n.8900C>G
c.7218C>G (p.Leu2406=)
c.7188C>G (p.Leu2396=)
c.7140C>G (p.Leu2380=)
c.7107C>G (p.Leu2369=)
c.7077C>G (p.Leu2359=)
c.7074C>G (p.Leu2358=)
c.7026C>G (p.Leu2342=)
c.6990C>G (p.Leu2330=)
c.6987C>G (p.Leu2329=)
c.6942C>G (p.Leu2314=)
n.7607C>G
Xg.77508522G>TCA517374139ATRXc.7308C>A (p.Leu2436=)
c.2406C>A (p.Leu802=)
c.7194C>A (p.Leu2398=)
c.*6936C>A (n.*6936C>A)
n.5628C>A
n.539C>A
c.7305C>A (p.Leu2435=)
c.7221C>A (p.Leu2407=)
c.7191C>A (p.Leu2397=)
c.7143C>A (p.Leu2381=)
c.7104C>A (p.Leu2368=)
c.7029C>A (p.Leu2343=)
n.8900C>A
c.7218C>A (p.Leu2406=)
c.7188C>A (p.Leu2396=)
c.7140C>A (p.Leu2380=)
c.7107C>A (p.Leu2369=)
c.7077C>A (p.Leu2359=)
c.7074C>A (p.Leu2358=)
c.7026C>A (p.Leu2342=)
c.6990C>A (p.Leu2330=)
c.6987C>A (p.Leu2329=)
c.6942C>A (p.Leu2314=)
n.7607C>A
 dbSNP
Xg.77508523A>CCA413704571ATRXc.7307T>G (p.Leu2436Arg)
c.2405T>G (p.Leu802Arg)
c.7193T>G (p.Leu2398Arg)
c.*6935T>G (n.*6935T>G)
n.5627T>G
n.538T>G
c.7304T>G (p.Leu2435Arg)
c.7220T>G (p.Leu2407Arg)
c.7190T>G (p.Leu2397Arg)
c.7142T>G (p.Leu2381Arg)
c.7103T>G (p.Leu2368Arg)
c.7028T>G (p.Leu2343Arg)
n.8899T>G
c.7217T>G (p.Leu2406Arg)
c.7187T>G (p.Leu2396Arg)
c.7139T>G (p.Leu2380Arg)
c.7106T>G (p.Leu2369Arg)
c.7076T>G (p.Leu2359Arg)
c.7073T>G (p.Leu2358Arg)
c.7025T>G (p.Leu2342Arg)
c.6989T>G (p.Leu2330Arg)
c.6986T>G (p.Leu2329Arg)
c.6941T>G (p.Leu2314Arg)
n.7606T>G
Xg.77508523A>GCA413704573ATRXc.7307T>C (p.Leu2436Pro)
c.2405T>C (p.Leu802Pro)
c.7193T>C (p.Leu2398Pro)
c.*6935T>C (n.*6935T>C)
n.5627T>C
n.538T>C
c.7304T>C (p.Leu2435Pro)
c.7220T>C (p.Leu2407Pro)
c.7190T>C (p.Leu2397Pro)
c.7142T>C (p.Leu2381Pro)
c.7103T>C (p.Leu2368Pro)
c.7028T>C (p.Leu2343Pro)
n.8899T>C
c.7217T>C (p.Leu2406Pro)
c.7187T>C (p.Leu2396Pro)
c.7139T>C (p.Leu2380Pro)
c.7106T>C (p.Leu2369Pro)
c.7076T>C (p.Leu2359Pro)
c.7073T>C (p.Leu2358Pro)
c.7025T>C (p.Leu2342Pro)
c.6989T>C (p.Leu2330Pro)
c.6986T>C (p.Leu2329Pro)
c.6941T>C (p.Leu2314Pro)
n.7606T>C
 dbSNP
Xg.77508523A>TCA413704577ATRXc.7307T>A (p.Leu2436His)
c.2405T>A (p.Leu802His)
c.7193T>A (p.Leu2398His)
c.*6935T>A (n.*6935T>A)
n.5627T>A
n.538T>A
c.7304T>A (p.Leu2435His)
c.7220T>A (p.Leu2407His)
c.7190T>A (p.Leu2397His)
c.7142T>A (p.Leu2381His)
c.7103T>A (p.Leu2368His)
c.7028T>A (p.Leu2343His)
n.8899T>A
c.7217T>A (p.Leu2406His)
c.7187T>A (p.Leu2396His)
c.7139T>A (p.Leu2380His)
c.7106T>A (p.Leu2369His)
c.7076T>A (p.Leu2359His)
c.7073T>A (p.Leu2358His)
c.7025T>A (p.Leu2342His)
c.6989T>A (p.Leu2330His)
c.6986T>A (p.Leu2329His)
c.6941T>A (p.Leu2314His)
n.7606T>A
Xg.77508524G>ACA413704580ATRXc.7306C>T (p.Leu2436Phe)
c.2404C>T (p.Leu802Phe)
c.7192C>T (p.Leu2398Phe)
c.*6934C>T (n.*6934C>T)
n.5626C>T
n.537C>T
c.7303C>T (p.Leu2435Phe)
c.7219C>T (p.Leu2407Phe)
c.7189C>T (p.Leu2397Phe)
c.7141C>T (p.Leu2381Phe)
c.7102C>T (p.Leu2368Phe)
c.7027C>T (p.Leu2343Phe)
n.8898C>T
c.7216C>T (p.Leu2406Phe)
c.7186C>T (p.Leu2396Phe)
c.7138C>T (p.Leu2380Phe)
c.7105C>T (p.Leu2369Phe)
c.7075C>T (p.Leu2359Phe)
c.7072C>T (p.Leu2358Phe)
c.7024C>T (p.Leu2342Phe)
c.6988C>T (p.Leu2330Phe)
c.6985C>T (p.Leu2329Phe)
c.6940C>T (p.Leu2314Phe)
n.7605C>T
 dbSNP
Xg.77508524G>CCA10457398ATRXc.7306C>G (p.Leu2436Val)
c.2404C>G (p.Leu802Val)
c.7192C>G (p.Leu2398Val)
c.*6934C>G (n.*6934C>G)
n.5626C>G
n.537C>G
c.7303C>G (p.Leu2435Val)
c.7219C>G (p.Leu2407Val)
c.7189C>G (p.Leu2397Val)
c.7141C>G (p.Leu2381Val)
c.7102C>G (p.Leu2368Val)
c.7027C>G (p.Leu2343Val)
n.8898C>G
c.7216C>G (p.Leu2406Val)
c.7186C>G (p.Leu2396Val)
c.7138C>G (p.Leu2380Val)
c.7105C>G (p.Leu2369Val)
c.7075C>G (p.Leu2359Val)
c.7072C>G (p.Leu2358Val)
c.7024C>G (p.Leu2342Val)
c.6988C>G (p.Leu2330Val)
c.6985C>G (p.Leu2329Val)
c.6940C>G (p.Leu2314Val)
n.7605C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508524G=CA2438929061ATRXc.7306C= (p.Leu2436=)
c.2404C= (p.Leu802=)
c.7192C= (p.Leu2398=)
c.*6934C= (n.*6934C=)
n.5626C=
n.537C=
c.7303C= (p.Leu2435=)
c.7219C= (p.Leu2407=)
c.7189C= (p.Leu2397=)
c.7141C= (p.Leu2381=)
c.7102C= (p.Leu2368=)
c.7027C= (p.Leu2343=)
n.8898C=
c.7216C= (p.Leu2406=)
c.7186C= (p.Leu2396=)
c.7138C= (p.Leu2380=)
c.7105C= (p.Leu2369=)
c.7075C= (p.Leu2359=)
c.7072C= (p.Leu2358=)
c.7024C= (p.Leu2342=)
c.6988C= (p.Leu2330=)
c.6985C= (p.Leu2329=)
c.6940C= (p.Leu2314=)
n.7605C=
Xg.77508524G>TCA413704584ATRXc.7306C>A (p.Leu2436Ile)
c.2404C>A (p.Leu802Ile)
c.7192C>A (p.Leu2398Ile)
c.*6934C>A (n.*6934C>A)
n.5626C>A
n.537C>A
c.7303C>A (p.Leu2435Ile)
c.7219C>A (p.Leu2407Ile)
c.7189C>A (p.Leu2397Ile)
c.7141C>A (p.Leu2381Ile)
c.7102C>A (p.Leu2368Ile)
c.7027C>A (p.Leu2343Ile)
n.8898C>A
c.7216C>A (p.Leu2406Ile)
c.7186C>A (p.Leu2396Ile)
c.7138C>A (p.Leu2380Ile)
c.7105C>A (p.Leu2369Ile)
c.7075C>A (p.Leu2359Ile)
c.7072C>A (p.Leu2358Ile)
c.7024C>A (p.Leu2342Ile)
c.6988C>A (p.Leu2330Ile)
c.6985C>A (p.Leu2329Ile)
c.6940C>A (p.Leu2314Ile)
n.7605C>A
Xg.77508525G>ACA517374143ATRXc.7305C>T (p.His2435=)
c.2403C>T (p.His801=)
c.7191C>T (p.His2397=)
c.*6933C>T (n.*6933C>T)
n.5625C>T
n.536C>T
c.7302C>T (p.His2434=)
c.7218C>T (p.His2406=)
c.7188C>T (p.His2396=)
c.7140C>T (p.His2380=)
c.7101C>T (p.His2367=)
c.7026C>T (p.His2342=)
n.8897C>T
c.7215C>T (p.His2405=)
c.7185C>T (p.His2395=)
c.7137C>T (p.His2379=)
c.7104C>T (p.His2368=)
c.7074C>T (p.His2358=)
c.7071C>T (p.His2357=)
c.7023C>T (p.His2341=)
c.6987C>T (p.His2329=)
c.6984C>T (p.His2328=)
c.6939C>T (p.His2313=)
n.7604C>T
 dbSNP
Xg.77508525G>CCA413704592ATRXc.7305C>G (p.His2435Gln)
c.2403C>G (p.His801Gln)
c.7191C>G (p.His2397Gln)
c.*6933C>G (n.*6933C>G)
n.5625C>G
n.536C>G
c.7302C>G (p.His2434Gln)
c.7218C>G (p.His2406Gln)
c.7188C>G (p.His2396Gln)
c.7140C>G (p.His2380Gln)
c.7101C>G (p.His2367Gln)
c.7026C>G (p.His2342Gln)
n.8897C>G
c.7215C>G (p.His2405Gln)
c.7185C>G (p.His2395Gln)
c.7137C>G (p.His2379Gln)
c.7104C>G (p.His2368Gln)
c.7074C>G (p.His2358Gln)
c.7071C>G (p.His2357Gln)
c.7023C>G (p.His2341Gln)
c.6987C>G (p.His2329Gln)
c.6984C>G (p.His2328Gln)
c.6939C>G (p.His2313Gln)
n.7604C>G
 dbSNP
Xg.77508525G=CA2438929062ATRXc.7305C= (p.His2435=)
c.2403C= (p.His801=)
c.7191C= (p.His2397=)
c.*6933C= (n.*6933C=)
n.5625C=
n.536C=
c.7302C= (p.His2434=)
c.7218C= (p.His2406=)
c.7188C= (p.His2396=)
c.7140C= (p.His2380=)
c.7101C= (p.His2367=)
c.7026C= (p.His2342=)
n.8897C=
c.7215C= (p.His2405=)
c.7185C= (p.His2395=)
c.7137C= (p.His2379=)
c.7104C= (p.His2368=)
c.7074C= (p.His2358=)
c.7071C= (p.His2357=)
c.7023C= (p.His2341=)
c.6987C= (p.His2329=)
c.6984C= (p.His2328=)
c.6939C= (p.His2313=)
n.7604C=
Xg.77508525G>TCA413704589ATRXc.7305C>A (p.His2435Gln)
c.2403C>A (p.His801Gln)
c.7191C>A (p.His2397Gln)
c.*6933C>A (n.*6933C>A)
n.5625C>A
n.536C>A
c.7302C>A (p.His2434Gln)
c.7218C>A (p.His2406Gln)
c.7188C>A (p.His2396Gln)
c.7140C>A (p.His2380Gln)
c.7101C>A (p.His2367Gln)
c.7026C>A (p.His2342Gln)
n.8897C>A
c.7215C>A (p.His2405Gln)
c.7185C>A (p.His2395Gln)
c.7137C>A (p.His2379Gln)
c.7104C>A (p.His2368Gln)
c.7074C>A (p.His2358Gln)
c.7071C>A (p.His2357Gln)
c.7023C>A (p.His2341Gln)
c.6987C>A (p.His2329Gln)
c.6984C>A (p.His2328Gln)
c.6939C>A (p.His2313Gln)
n.7604C>A
Xg.77508526T>ACA413704596ATRXc.7304A>T (p.His2435Leu)
c.2402A>T (p.His801Leu)
c.7190A>T (p.His2397Leu)
c.*6932A>T (n.*6932A>T)
n.5624A>T
n.535A>T
c.7301A>T (p.His2434Leu)
c.7217A>T (p.His2406Leu)
c.7187A>T (p.His2396Leu)
c.7139A>T (p.His2380Leu)
c.7100A>T (p.His2367Leu)
c.7025A>T (p.His2342Leu)
n.8896A>T
c.7214A>T (p.His2405Leu)
c.7184A>T (p.His2395Leu)
c.7136A>T (p.His2379Leu)
c.7103A>T (p.His2368Leu)
c.7073A>T (p.His2358Leu)
c.7070A>T (p.His2357Leu)
c.7022A>T (p.His2341Leu)
c.6986A>T (p.His2329Leu)
c.6983A>T (p.His2328Leu)
c.6938A>T (p.His2313Leu)
n.7603A>T
 dbSNP
Xg.77508526T>CCA413704598ATRXc.7304A>G (p.His2435Arg)
c.2402A>G (p.His801Arg)
c.7190A>G (p.His2397Arg)
c.*6932A>G (n.*6932A>G)
n.5624A>G
n.535A>G
c.7301A>G (p.His2434Arg)
c.7217A>G (p.His2406Arg)
c.7187A>G (p.His2396Arg)
c.7139A>G (p.His2380Arg)
c.7100A>G (p.His2367Arg)
c.7025A>G (p.His2342Arg)
n.8896A>G
c.7214A>G (p.His2405Arg)
c.7184A>G (p.His2395Arg)
c.7136A>G (p.His2379Arg)
c.7103A>G (p.His2368Arg)
c.7073A>G (p.His2358Arg)
c.7070A>G (p.His2357Arg)
c.7022A>G (p.His2341Arg)
c.6986A>G (p.His2329Arg)
c.6983A>G (p.His2328Arg)
c.6938A>G (p.His2313Arg)
n.7603A>G
 dbSNP
Xg.77508526T>GCA413704601ATRXc.7304A>C (p.His2435Pro)
c.2402A>C (p.His801Pro)
c.7190A>C (p.His2397Pro)
c.*6932A>C (n.*6932A>C)
n.5624A>C
n.535A>C
c.7301A>C (p.His2434Pro)
c.7217A>C (p.His2406Pro)
c.7187A>C (p.His2396Pro)
c.7139A>C (p.His2380Pro)
c.7100A>C (p.His2367Pro)
c.7025A>C (p.His2342Pro)
n.8896A>C
c.7214A>C (p.His2405Pro)
c.7184A>C (p.His2395Pro)
c.7136A>C (p.His2379Pro)
c.7103A>C (p.His2368Pro)
c.7073A>C (p.His2358Pro)
c.7070A>C (p.His2357Pro)
c.7022A>C (p.His2341Pro)
c.6986A>C (p.His2329Pro)
c.6983A>C (p.His2328Pro)
c.6938A>C (p.His2313Pro)
n.7603A>C
 dbSNP
Xg.77508527G>ACA413704605ATRXc.7303C>T (p.His2435Tyr)
c.2401C>T (p.His801Tyr)
c.7189C>T (p.His2397Tyr)
c.*6931C>T (n.*6931C>T)
n.5623C>T
n.534C>T
c.7300C>T (p.His2434Tyr)
c.7216C>T (p.His2406Tyr)
c.7186C>T (p.His2396Tyr)
c.7138C>T (p.His2380Tyr)
c.7099C>T (p.His2367Tyr)
c.7024C>T (p.His2342Tyr)
n.8895C>T
c.7213C>T (p.His2405Tyr)
c.7183C>T (p.His2395Tyr)
c.7135C>T (p.His2379Tyr)
c.7102C>T (p.His2368Tyr)
c.7072C>T (p.His2358Tyr)
c.7069C>T (p.His2357Tyr)
c.7021C>T (p.His2341Tyr)
c.6985C>T (p.His2329Tyr)
c.6982C>T (p.His2328Tyr)
c.6937C>T (p.His2313Tyr)
n.7602C>T
 dbSNP
Xg.77508527G>CCA413704607ATRXc.7303C>G (p.His2435Asp)
c.2401C>G (p.His801Asp)
c.7189C>G (p.His2397Asp)
c.*6931C>G (n.*6931C>G)
n.5623C>G
n.534C>G
c.7300C>G (p.His2434Asp)
c.7216C>G (p.His2406Asp)
c.7186C>G (p.His2396Asp)
c.7138C>G (p.His2380Asp)
c.7099C>G (p.His2367Asp)
c.7024C>G (p.His2342Asp)
n.8895C>G
c.7213C>G (p.His2405Asp)
c.7183C>G (p.His2395Asp)
c.7135C>G (p.His2379Asp)
c.7102C>G (p.His2368Asp)
c.7072C>G (p.His2358Asp)
c.7069C>G (p.His2357Asp)
c.7021C>G (p.His2341Asp)
c.6985C>G (p.His2329Asp)
c.6982C>G (p.His2328Asp)
c.6937C>G (p.His2313Asp)
n.7602C>G
Xg.77508527G>TCA413704609ATRXc.7303C>A (p.His2435Asn)
c.2401C>A (p.His801Asn)
c.7189C>A (p.His2397Asn)
c.*6931C>A (n.*6931C>A)
n.5623C>A
n.534C>A
c.7300C>A (p.His2434Asn)
c.7216C>A (p.His2406Asn)
c.7186C>A (p.His2396Asn)
c.7138C>A (p.His2380Asn)
c.7099C>A (p.His2367Asn)
c.7024C>A (p.His2342Asn)
n.8895C>A
c.7213C>A (p.His2405Asn)
c.7183C>A (p.His2395Asn)
c.7135C>A (p.His2379Asn)
c.7102C>A (p.His2368Asn)
c.7072C>A (p.His2358Asn)
c.7069C>A (p.His2357Asn)
c.7021C>A (p.His2341Asn)
c.6985C>A (p.His2329Asn)
c.6982C>A (p.His2328Asn)
c.6937C>A (p.His2313Asn)
n.7602C>A
Xg.77508528A>CCA517374146ATRXc.7302T>G (p.Gly2434=)
c.2400T>G (p.Gly800=)
c.7188T>G (p.Gly2396=)
c.*6930T>G (n.*6930T>G)
n.5622T>G
n.533T>G
c.7299T>G (p.Gly2433=)
c.7215T>G (p.Gly2405=)
c.7185T>G (p.Gly2395=)
c.7137T>G (p.Gly2379=)
c.7098T>G (p.Gly2366=)
c.7023T>G (p.Gly2341=)
n.8894T>G
c.7212T>G (p.Gly2404=)
c.7182T>G (p.Gly2394=)
c.7134T>G (p.Gly2378=)
c.7101T>G (p.Gly2367=)
c.7071T>G (p.Gly2357=)
c.7068T>G (p.Gly2356=)
c.7020T>G (p.Gly2340=)
c.6984T>G (p.Gly2328=)
c.6981T>G (p.Gly2327=)
c.6936T>G (p.Gly2312=)
n.7601T>G
Xg.77508528A>GCA517374148ATRXc.7302T>C (p.Gly2434=)
c.2400T>C (p.Gly800=)
c.7188T>C (p.Gly2396=)
c.*6930T>C (n.*6930T>C)
n.5622T>C
n.533T>C
c.7299T>C (p.Gly2433=)
c.7215T>C (p.Gly2405=)
c.7185T>C (p.Gly2395=)
c.7137T>C (p.Gly2379=)
c.7098T>C (p.Gly2366=)
c.7023T>C (p.Gly2341=)
n.8894T>C
c.7212T>C (p.Gly2404=)
c.7182T>C (p.Gly2394=)
c.7134T>C (p.Gly2378=)
c.7101T>C (p.Gly2367=)
c.7071T>C (p.Gly2357=)
c.7068T>C (p.Gly2356=)
c.7020T>C (p.Gly2340=)
c.6984T>C (p.Gly2328=)
c.6981T>C (p.Gly2327=)
c.6936T>C (p.Gly2312=)
n.7601T>C
Xg.77508528A>TCA517374147ATRXc.7302T>A (p.Gly2434=)
c.2400T>A (p.Gly800=)
c.7188T>A (p.Gly2396=)
c.*6930T>A (n.*6930T>A)
n.5622T>A
n.533T>A
c.7299T>A (p.Gly2433=)
c.7215T>A (p.Gly2405=)
c.7185T>A (p.Gly2395=)
c.7137T>A (p.Gly2379=)
c.7098T>A (p.Gly2366=)
c.7023T>A (p.Gly2341=)
n.8894T>A
c.7212T>A (p.Gly2404=)
c.7182T>A (p.Gly2394=)
c.7134T>A (p.Gly2378=)
c.7101T>A (p.Gly2367=)
c.7071T>A (p.Gly2357=)
c.7068T>A (p.Gly2356=)
c.7020T>A (p.Gly2340=)
c.6984T>A (p.Gly2328=)
c.6981T>A (p.Gly2327=)
c.6936T>A (p.Gly2312=)
n.7601T>A
Xg.77508529C>ACA413704612ATRXc.7301G>T (p.Gly2434Val)
c.2399G>T (p.Gly800Val)
c.7187G>T (p.Gly2396Val)
c.*6929G>T (n.*6929G>T)
n.5621G>T
n.532G>T
c.7298G>T (p.Gly2433Val)
c.7214G>T (p.Gly2405Val)
c.7184G>T (p.Gly2395Val)
c.7136G>T (p.Gly2379Val)
c.7097G>T (p.Gly2366Val)
c.7022G>T (p.Gly2341Val)
n.8893G>T
c.7211G>T (p.Gly2404Val)
c.7181G>T (p.Gly2394Val)
c.7133G>T (p.Gly2378Val)
c.7100G>T (p.Gly2367Val)
c.7070G>T (p.Gly2357Val)
c.7067G>T (p.Gly2356Val)
c.7019G>T (p.Gly2340Val)
c.6983G>T (p.Gly2328Val)
c.6980G>T (p.Gly2327Val)
c.6935G>T (p.Gly2312Val)
n.7600G>T
Xg.77508529C=CA2438929063ATRXc.7301G= (p.Gly2434=)
c.2399G= (p.Gly800=)
c.7187G= (p.Gly2396=)
c.*6929G= (n.*6929G=)
n.5621G=
n.532G=
c.7298G= (p.Gly2433=)
c.7214G= (p.Gly2405=)
c.7184G= (p.Gly2395=)
c.7136G= (p.Gly2379=)
c.7097G= (p.Gly2366=)
c.7022G= (p.Gly2341=)
n.8893G=
c.7211G= (p.Gly2404=)
c.7181G= (p.Gly2394=)
c.7133G= (p.Gly2378=)
c.7100G= (p.Gly2367=)
c.7070G= (p.Gly2357=)
c.7067G= (p.Gly2356=)
c.7019G= (p.Gly2340=)
c.6983G= (p.Gly2328=)
c.6980G= (p.Gly2327=)
c.6935G= (p.Gly2312=)
n.7600G=
Xg.77508529C>GCA413704614ATRXc.7301G>C (p.Gly2434Ala)
c.2399G>C (p.Gly800Ala)
c.7187G>C (p.Gly2396Ala)
c.*6929G>C (n.*6929G>C)
n.5621G>C
n.532G>C
c.7298G>C (p.Gly2433Ala)
c.7214G>C (p.Gly2405Ala)
c.7184G>C (p.Gly2395Ala)
c.7136G>C (p.Gly2379Ala)
c.7097G>C (p.Gly2366Ala)
c.7022G>C (p.Gly2341Ala)
n.8893G>C
c.7211G>C (p.Gly2404Ala)
c.7181G>C (p.Gly2394Ala)
c.7133G>C (p.Gly2378Ala)
c.7100G>C (p.Gly2367Ala)
c.7070G>C (p.Gly2357Ala)
c.7067G>C (p.Gly2356Ala)
c.7019G>C (p.Gly2340Ala)
c.6983G>C (p.Gly2328Ala)
c.6980G>C (p.Gly2327Ala)
c.6935G>C (p.Gly2312Ala)
n.7600G>C
 dbSNP
Xg.77508529C>TCA413704618ATRXc.7301G>A (p.Gly2434Asp)
c.2399G>A (p.Gly800Asp)
c.7187G>A (p.Gly2396Asp)
c.*6929G>A (n.*6929G>A)
n.5621G>A
n.532G>A
c.7298G>A (p.Gly2433Asp)
c.7214G>A (p.Gly2405Asp)
c.7184G>A (p.Gly2395Asp)
c.7136G>A (p.Gly2379Asp)
c.7097G>A (p.Gly2366Asp)
c.7022G>A (p.Gly2341Asp)
n.8893G>A
c.7211G>A (p.Gly2404Asp)
c.7181G>A (p.Gly2394Asp)
c.7133G>A (p.Gly2378Asp)
c.7100G>A (p.Gly2367Asp)
c.7070G>A (p.Gly2357Asp)
c.7067G>A (p.Gly2356Asp)
c.7019G>A (p.Gly2340Asp)
c.6983G>A (p.Gly2328Asp)
c.6980G>A (p.Gly2327Asp)
c.6935G>A (p.Gly2312Asp)
n.7600G>A
 dbSNP
Xg.77508530C>ACA413704622ATRXc.7300G>T (p.Gly2434Cys)
c.2398G>T (p.Gly800Cys)
c.7186G>T (p.Gly2396Cys)
c.*6928G>T (n.*6928G>T)
n.5620G>T
n.531G>T
c.7297G>T (p.Gly2433Cys)
c.7213G>T (p.Gly2405Cys)
c.7183G>T (p.Gly2395Cys)
c.7135G>T (p.Gly2379Cys)
c.7096G>T (p.Gly2366Cys)
c.7021G>T (p.Gly2341Cys)
n.8892G>T
c.7210G>T (p.Gly2404Cys)
c.7180G>T (p.Gly2394Cys)
c.7132G>T (p.Gly2378Cys)
c.7099G>T (p.Gly2367Cys)
c.7069G>T (p.Gly2357Cys)
c.7066G>T (p.Gly2356Cys)
c.7018G>T (p.Gly2340Cys)
c.6982G>T (p.Gly2328Cys)
c.6979G>T (p.Gly2327Cys)
c.6934G>T (p.Gly2312Cys)
n.7599G>T
 dbSNP
Xg.77508530C=CA2438929064ATRXc.7300G= (p.Gly2434=)
c.2398G= (p.Gly800=)
c.7186G= (p.Gly2396=)
c.*6928G= (n.*6928G=)
n.5620G=
n.531G=
c.7297G= (p.Gly2433=)
c.7213G= (p.Gly2405=)
c.7183G= (p.Gly2395=)
c.7135G= (p.Gly2379=)
c.7096G= (p.Gly2366=)
c.7021G= (p.Gly2341=)
n.8892G=
c.7210G= (p.Gly2404=)
c.7180G= (p.Gly2394=)
c.7132G= (p.Gly2378=)
c.7099G= (p.Gly2367=)
c.7069G= (p.Gly2357=)
c.7066G= (p.Gly2356=)
c.7018G= (p.Gly2340=)
c.6982G= (p.Gly2328=)
c.6979G= (p.Gly2327=)
c.6934G= (p.Gly2312=)
n.7599G=
Xg.77508530C>GCA413704624ATRXc.7300G>C (p.Gly2434Arg)
c.2398G>C (p.Gly800Arg)
c.7186G>C (p.Gly2396Arg)
c.*6928G>C (n.*6928G>C)
n.5620G>C
n.531G>C
c.7297G>C (p.Gly2433Arg)
c.7213G>C (p.Gly2405Arg)
c.7183G>C (p.Gly2395Arg)
c.7135G>C (p.Gly2379Arg)
c.7096G>C (p.Gly2366Arg)
c.7021G>C (p.Gly2341Arg)
n.8892G>C
c.7210G>C (p.Gly2404Arg)
c.7180G>C (p.Gly2394Arg)
c.7132G>C (p.Gly2378Arg)
c.7099G>C (p.Gly2367Arg)
c.7069G>C (p.Gly2357Arg)
c.7066G>C (p.Gly2356Arg)
c.7018G>C (p.Gly2340Arg)
c.6982G>C (p.Gly2328Arg)
c.6979G>C (p.Gly2327Arg)
c.6934G>C (p.Gly2312Arg)
n.7599G>C
 dbSNP
Xg.77508530C>TCA413704626ATRXc.7300G>A (p.Gly2434Ser)
c.2398G>A (p.Gly800Ser)
c.7186G>A (p.Gly2396Ser)
c.*6928G>A (n.*6928G>A)
n.5620G>A
n.531G>A
c.7297G>A (p.Gly2433Ser)
c.7213G>A (p.Gly2405Ser)
c.7183G>A (p.Gly2395Ser)
c.7135G>A (p.Gly2379Ser)
c.7096G>A (p.Gly2366Ser)
c.7021G>A (p.Gly2341Ser)
n.8892G>A
c.7210G>A (p.Gly2404Ser)
c.7180G>A (p.Gly2394Ser)
c.7132G>A (p.Gly2378Ser)
c.7099G>A (p.Gly2367Ser)
c.7069G>A (p.Gly2357Ser)
c.7066G>A (p.Gly2356Ser)
c.7018G>A (p.Gly2340Ser)
c.6982G>A (p.Gly2328Ser)
c.6979G>A (p.Gly2327Ser)
c.6934G>A (p.Gly2312Ser)
n.7599G>A
 dbSNP
Xg.77508531C>ACA517374149ATRXc.7299G>T (p.Leu2433=)
c.2397G>T (p.Leu799=)
c.7185G>T (p.Leu2395=)
c.*6927G>T (n.*6927G>T)
n.5619G>T
n.530G>T
c.7296G>T (p.Leu2432=)
c.7212G>T (p.Leu2404=)
c.7182G>T (p.Leu2394=)
c.7134G>T (p.Leu2378=)
c.7095G>T (p.Leu2365=)
c.7020G>T (p.Leu2340=)
n.8891G>T
c.7209G>T (p.Leu2403=)
c.7179G>T (p.Leu2393=)
c.7131G>T (p.Leu2377=)
c.7098G>T (p.Leu2366=)
c.7068G>T (p.Leu2356=)
c.7065G>T (p.Leu2355=)
c.7017G>T (p.Leu2339=)
c.6981G>T (p.Leu2327=)
c.6978G>T (p.Leu2326=)
c.6933G>T (p.Leu2311=)
n.7598G>T
Xg.77508531C>GCA517374150ATRXc.7299G>C (p.Leu2433=)
c.2397G>C (p.Leu799=)
c.7185G>C (p.Leu2395=)
c.*6927G>C (n.*6927G>C)
n.5619G>C
n.530G>C
c.7296G>C (p.Leu2432=)
c.7212G>C (p.Leu2404=)
c.7182G>C (p.Leu2394=)
c.7134G>C (p.Leu2378=)
c.7095G>C (p.Leu2365=)
c.7020G>C (p.Leu2340=)
n.8891G>C
c.7209G>C (p.Leu2403=)
c.7179G>C (p.Leu2393=)
c.7131G>C (p.Leu2377=)
c.7098G>C (p.Leu2366=)
c.7068G>C (p.Leu2356=)
c.7065G>C (p.Leu2355=)
c.7017G>C (p.Leu2339=)
c.6981G>C (p.Leu2327=)
c.6978G>C (p.Leu2326=)
c.6933G>C (p.Leu2311=)
n.7598G>C
 dbSNP
Xg.77508531C>TCA517374151ATRXc.7299G>A (p.Leu2433=)
c.2397G>A (p.Leu799=)
c.7185G>A (p.Leu2395=)
c.*6927G>A (n.*6927G>A)
n.5619G>A
n.530G>A
c.7296G>A (p.Leu2432=)
c.7212G>A (p.Leu2404=)
c.7182G>A (p.Leu2394=)
c.7134G>A (p.Leu2378=)
c.7095G>A (p.Leu2365=)
c.7020G>A (p.Leu2340=)
n.8891G>A
c.7209G>A (p.Leu2403=)
c.7179G>A (p.Leu2393=)
c.7131G>A (p.Leu2377=)
c.7098G>A (p.Leu2366=)
c.7068G>A (p.Leu2356=)
c.7065G>A (p.Leu2355=)
c.7017G>A (p.Leu2339=)
c.6981G>A (p.Leu2327=)
c.6978G>A (p.Leu2326=)
c.6933G>A (p.Leu2311=)
n.7598G>A
 dbSNP
Xg.77508532A>CCA413704633ATRXc.7298T>G (p.Leu2433Arg)
c.2396T>G (p.Leu799Arg)
c.7184T>G (p.Leu2395Arg)
c.*6926T>G (n.*6926T>G)
n.5618T>G
n.529T>G
c.7295T>G (p.Leu2432Arg)
c.7211T>G (p.Leu2404Arg)
c.7181T>G (p.Leu2394Arg)
c.7133T>G (p.Leu2378Arg)
c.7094T>G (p.Leu2365Arg)
c.7019T>G (p.Leu2340Arg)
n.8890T>G
c.7208T>G (p.Leu2403Arg)
c.7178T>G (p.Leu2393Arg)
c.7130T>G (p.Leu2377Arg)
c.7097T>G (p.Leu2366Arg)
c.7067T>G (p.Leu2356Arg)
c.7064T>G (p.Leu2355Arg)
c.7016T>G (p.Leu2339Arg)
c.6980T>G (p.Leu2327Arg)
c.6977T>G (p.Leu2326Arg)
c.6932T>G (p.Leu2311Arg)
n.7597T>G
Xg.77508532A>GCA413704636ATRXc.7298T>C (p.Leu2433Pro)
c.2396T>C (p.Leu799Pro)
c.7184T>C (p.Leu2395Pro)
c.*6926T>C (n.*6926T>C)
n.5618T>C
n.529T>C
c.7295T>C (p.Leu2432Pro)
c.7211T>C (p.Leu2404Pro)
c.7181T>C (p.Leu2394Pro)
c.7133T>C (p.Leu2378Pro)
c.7094T>C (p.Leu2365Pro)
c.7019T>C (p.Leu2340Pro)
n.8890T>C
c.7208T>C (p.Leu2403Pro)
c.7178T>C (p.Leu2393Pro)
c.7130T>C (p.Leu2377Pro)
c.7097T>C (p.Leu2366Pro)
c.7067T>C (p.Leu2356Pro)
c.7064T>C (p.Leu2355Pro)
c.7016T>C (p.Leu2339Pro)
c.6980T>C (p.Leu2327Pro)
c.6977T>C (p.Leu2326Pro)
c.6932T>C (p.Leu2311Pro)
n.7597T>C
 dbSNP gnomAD v4
Xg.77508532A>TCA413704630ATRXc.7298T>A (p.Leu2433Gln)
c.2396T>A (p.Leu799Gln)
c.7184T>A (p.Leu2395Gln)
c.*6926T>A (n.*6926T>A)
n.5618T>A
n.529T>A
c.7295T>A (p.Leu2432Gln)
c.7211T>A (p.Leu2404Gln)
c.7181T>A (p.Leu2394Gln)
c.7133T>A (p.Leu2378Gln)
c.7094T>A (p.Leu2365Gln)
c.7019T>A (p.Leu2340Gln)
n.8890T>A
c.7208T>A (p.Leu2403Gln)
c.7178T>A (p.Leu2393Gln)
c.7130T>A (p.Leu2377Gln)
c.7097T>A (p.Leu2366Gln)
c.7067T>A (p.Leu2356Gln)
c.7064T>A (p.Leu2355Gln)
c.7016T>A (p.Leu2339Gln)
c.6980T>A (p.Leu2327Gln)
c.6977T>A (p.Leu2326Gln)
c.6932T>A (p.Leu2311Gln)
n.7597T>A
 dbSNP
Xg.77508533G>ACA517374153ATRXc.7297C>T (p.Leu2433=)
c.2395C>T (p.Leu799=)
c.7183C>T (p.Leu2395=)
c.*6925C>T (n.*6925C>T)
n.5617C>T
n.528C>T
c.7294C>T (p.Leu2432=)
c.7210C>T (p.Leu2404=)
c.7180C>T (p.Leu2394=)
c.7132C>T (p.Leu2378=)
c.7093C>T (p.Leu2365=)
c.7018C>T (p.Leu2340=)
n.8889C>T
c.7207C>T (p.Leu2403=)
c.7177C>T (p.Leu2393=)
c.7129C>T (p.Leu2377=)
c.7096C>T (p.Leu2366=)
c.7066C>T (p.Leu2356=)
c.7063C>T (p.Leu2355=)
c.7015C>T (p.Leu2339=)
c.6979C>T (p.Leu2327=)
c.6976C>T (p.Leu2326=)
c.6931C>T (p.Leu2311=)
n.7596C>T
 ClinVar dbSNP
Xg.77508533G>CCA413704643ATRXc.7297C>G (p.Leu2433Val)
c.2395C>G (p.Leu799Val)
c.7183C>G (p.Leu2395Val)
c.*6925C>G (n.*6925C>G)
n.5617C>G
n.528C>G
c.7294C>G (p.Leu2432Val)
c.7210C>G (p.Leu2404Val)
c.7180C>G (p.Leu2394Val)
c.7132C>G (p.Leu2378Val)
c.7093C>G (p.Leu2365Val)
c.7018C>G (p.Leu2340Val)
n.8889C>G
c.7207C>G (p.Leu2403Val)
c.7177C>G (p.Leu2393Val)
c.7129C>G (p.Leu2377Val)
c.7096C>G (p.Leu2366Val)
c.7066C>G (p.Leu2356Val)
c.7063C>G (p.Leu2355Val)
c.7015C>G (p.Leu2339Val)
c.6979C>G (p.Leu2327Val)
c.6976C>G (p.Leu2326Val)
c.6931C>G (p.Leu2311Val)
n.7596C>G
 gnomAD v4
Xg.77508533G>TCA413704640ATRXc.7297C>A (p.Leu2433Met)
c.2395C>A (p.Leu799Met)
c.7183C>A (p.Leu2395Met)
c.*6925C>A (n.*6925C>A)
n.5617C>A
n.528C>A
c.7294C>A (p.Leu2432Met)
c.7210C>A (p.Leu2404Met)
c.7180C>A (p.Leu2394Met)
c.7132C>A (p.Leu2378Met)
c.7093C>A (p.Leu2365Met)
c.7018C>A (p.Leu2340Met)
n.8889C>A
c.7207C>A (p.Leu2403Met)
c.7177C>A (p.Leu2393Met)
c.7129C>A (p.Leu2377Met)
c.7096C>A (p.Leu2366Met)
c.7066C>A (p.Leu2356Met)
c.7063C>A (p.Leu2355Met)
c.7015C>A (p.Leu2339Met)
c.6979C>A (p.Leu2327Met)
c.6976C>A (p.Leu2326Met)
c.6931C>A (p.Leu2311Met)
n.7596C>A
Xg.77508534T>ACA517374154ATRXc.7296A>T (p.Thr2432=)
c.2394A>T (p.Thr798=)
c.7182A>T (p.Thr2394=)
c.*6924A>T (n.*6924A>T)
n.5616A>T
n.527A>T
c.7293A>T (p.Thr2431=)
c.7209A>T (p.Thr2403=)
c.7179A>T (p.Thr2393=)
c.7131A>T (p.Thr2377=)
c.7092A>T (p.Thr2364=)
c.7017A>T (p.Thr2339=)
n.8888A>T
c.7206A>T (p.Thr2402=)
c.7176A>T (p.Thr2392=)
c.7128A>T (p.Thr2376=)
c.7095A>T (p.Thr2365=)
c.7065A>T (p.Thr2355=)
c.7062A>T (p.Thr2354=)
c.7014A>T (p.Thr2338=)
c.6978A>T (p.Thr2326=)
c.6975A>T (p.Thr2325=)
c.6930A>T (p.Thr2310=)
n.7595A>T
Xg.77508534T>CCA517374156ATRXc.7296A>G (p.Thr2432=)
c.2394A>G (p.Thr798=)
c.7182A>G (p.Thr2394=)
c.*6924A>G (n.*6924A>G)
n.5616A>G
n.527A>G
c.7293A>G (p.Thr2431=)
c.7209A>G (p.Thr2403=)
c.7179A>G (p.Thr2393=)
c.7131A>G (p.Thr2377=)
c.7092A>G (p.Thr2364=)
c.7017A>G (p.Thr2339=)
n.8888A>G
c.7206A>G (p.Thr2402=)
c.7176A>G (p.Thr2392=)
c.7128A>G (p.Thr2376=)
c.7095A>G (p.Thr2365=)
c.7065A>G (p.Thr2355=)
c.7062A>G (p.Thr2354=)
c.7014A>G (p.Thr2338=)
c.6978A>G (p.Thr2326=)
c.6975A>G (p.Thr2325=)
c.6930A>G (p.Thr2310=)
n.7595A>G
 dbSNP
Xg.77508534T>GCA517374155ATRXc.7296A>C (p.Thr2432=)
c.2394A>C (p.Thr798=)
c.7182A>C (p.Thr2394=)
c.*6924A>C (n.*6924A>C)
n.5616A>C
n.527A>C
c.7293A>C (p.Thr2431=)
c.7209A>C (p.Thr2403=)
c.7179A>C (p.Thr2393=)
c.7131A>C (p.Thr2377=)
c.7092A>C (p.Thr2364=)
c.7017A>C (p.Thr2339=)
n.8888A>C
c.7206A>C (p.Thr2402=)
c.7176A>C (p.Thr2392=)
c.7128A>C (p.Thr2376=)
c.7095A>C (p.Thr2365=)
c.7065A>C (p.Thr2355=)
c.7062A>C (p.Thr2354=)
c.7014A>C (p.Thr2338=)
c.6978A>C (p.Thr2326=)
c.6975A>C (p.Thr2325=)
c.6930A>C (p.Thr2310=)
n.7595A>C
Xg.77508534T=CA2438929065ATRXc.7296A= (p.Thr2432=)
c.2394A= (p.Thr798=)
c.7182A= (p.Thr2394=)
c.*6924A= (n.*6924A=)
n.5616A=
n.527A=
c.7293A= (p.Thr2431=)
c.7209A= (p.Thr2403=)
c.7179A= (p.Thr2393=)
c.7131A= (p.Thr2377=)
c.7092A= (p.Thr2364=)
c.7017A= (p.Thr2339=)
n.8888A=
c.7206A= (p.Thr2402=)
c.7176A= (p.Thr2392=)
c.7128A= (p.Thr2376=)
c.7095A= (p.Thr2365=)
c.7065A= (p.Thr2355=)
c.7062A= (p.Thr2354=)
c.7014A= (p.Thr2338=)
c.6978A= (p.Thr2326=)
c.6975A= (p.Thr2325=)
c.6930A= (p.Thr2310=)
n.7595A=
Xg.77508535G>ACA413704647ATRXc.7295C>T (p.Thr2432Ile)
c.2393C>T (p.Thr798Ile)
c.7181C>T (p.Thr2394Ile)
c.*6923C>T (n.*6923C>T)
n.5615C>T
n.526C>T
c.7292C>T (p.Thr2431Ile)
c.7208C>T (p.Thr2403Ile)
c.7178C>T (p.Thr2393Ile)
c.7130C>T (p.Thr2377Ile)
c.7091C>T (p.Thr2364Ile)
c.7016C>T (p.Thr2339Ile)
n.8887C>T
c.7205C>T (p.Thr2402Ile)
c.7175C>T (p.Thr2392Ile)
c.7127C>T (p.Thr2376Ile)
c.7094C>T (p.Thr2365Ile)
c.7064C>T (p.Thr2355Ile)
c.7061C>T (p.Thr2354Ile)
c.7013C>T (p.Thr2338Ile)
c.6977C>T (p.Thr2326Ile)
c.6974C>T (p.Thr2325Ile)
c.6929C>T (p.Thr2310Ile)
n.7594C>T
 COSMIC COSMIC
Xg.77508535G>CCA413704656ATRXc.7295C>G (p.Thr2432Arg)
c.2393C>G (p.Thr798Arg)
c.7181C>G (p.Thr2394Arg)
c.*6923C>G (n.*6923C>G)
n.5615C>G
n.526C>G
c.7292C>G (p.Thr2431Arg)
c.7208C>G (p.Thr2403Arg)
c.7178C>G (p.Thr2393Arg)
c.7130C>G (p.Thr2377Arg)
c.7091C>G (p.Thr2364Arg)
c.7016C>G (p.Thr2339Arg)
n.8887C>G
c.7205C>G (p.Thr2402Arg)
c.7175C>G (p.Thr2392Arg)
c.7127C>G (p.Thr2376Arg)
c.7094C>G (p.Thr2365Arg)
c.7064C>G (p.Thr2355Arg)
c.7061C>G (p.Thr2354Arg)
c.7013C>G (p.Thr2338Arg)
c.6977C>G (p.Thr2326Arg)
c.6974C>G (p.Thr2325Arg)
c.6929C>G (p.Thr2310Arg)
n.7594C>G
 dbSNP
Xg.77508535G>TCA413704661ATRXc.7295C>A (p.Thr2432Lys)
c.2393C>A (p.Thr798Lys)
c.7181C>A (p.Thr2394Lys)
c.*6923C>A (n.*6923C>A)
n.5615C>A
n.526C>A
c.7292C>A (p.Thr2431Lys)
c.7208C>A (p.Thr2403Lys)
c.7178C>A (p.Thr2393Lys)
c.7130C>A (p.Thr2377Lys)
c.7091C>A (p.Thr2364Lys)
c.7016C>A (p.Thr2339Lys)
n.8887C>A
c.7205C>A (p.Thr2402Lys)
c.7175C>A (p.Thr2392Lys)
c.7127C>A (p.Thr2376Lys)
c.7094C>A (p.Thr2365Lys)
c.7064C>A (p.Thr2355Lys)
c.7061C>A (p.Thr2354Lys)
c.7013C>A (p.Thr2338Lys)
c.6977C>A (p.Thr2326Lys)
c.6974C>A (p.Thr2325Lys)
c.6929C>A (p.Thr2310Lys)
n.7594C>A
Xg.77508536T>ACA413704664ATRXc.7294A>T (p.Thr2432Ser)
c.2392A>T (p.Thr798Ser)
c.7180A>T (p.Thr2394Ser)
c.*6922A>T (n.*6922A>T)
n.5614A>T
n.525A>T
c.7291A>T (p.Thr2431Ser)
c.7207A>T (p.Thr2403Ser)
c.7177A>T (p.Thr2393Ser)
c.7129A>T (p.Thr2377Ser)
c.7090A>T (p.Thr2364Ser)
c.7015A>T (p.Thr2339Ser)
n.8886A>T
c.7204A>T (p.Thr2402Ser)
c.7174A>T (p.Thr2392Ser)
c.7126A>T (p.Thr2376Ser)
c.7093A>T (p.Thr2365Ser)
c.7063A>T (p.Thr2355Ser)
c.7060A>T (p.Thr2354Ser)
c.7012A>T (p.Thr2338Ser)
c.6976A>T (p.Thr2326Ser)
c.6973A>T (p.Thr2325Ser)
c.6928A>T (p.Thr2310Ser)
n.7593A>T
 dbSNP
Xg.77508536T>CCA413704667ATRXc.7294A>G (p.Thr2432Ala)
c.2392A>G (p.Thr798Ala)
c.7180A>G (p.Thr2394Ala)
c.*6922A>G (n.*6922A>G)
n.5614A>G
n.525A>G
c.7291A>G (p.Thr2431Ala)
c.7207A>G (p.Thr2403Ala)
c.7177A>G (p.Thr2393Ala)
c.7129A>G (p.Thr2377Ala)
c.7090A>G (p.Thr2364Ala)
c.7015A>G (p.Thr2339Ala)
n.8886A>G
c.7204A>G (p.Thr2402Ala)
c.7174A>G (p.Thr2392Ala)
c.7126A>G (p.Thr2376Ala)
c.7093A>G (p.Thr2365Ala)
c.7063A>G (p.Thr2355Ala)
c.7060A>G (p.Thr2354Ala)
c.7012A>G (p.Thr2338Ala)
c.6976A>G (p.Thr2326Ala)
c.6973A>G (p.Thr2325Ala)
c.6928A>G (p.Thr2310Ala)
n.7593A>G
Xg.77508536T>GCA413704670ATRXc.7294A>C (p.Thr2432Pro)
c.2392A>C (p.Thr798Pro)
c.7180A>C (p.Thr2394Pro)
c.*6922A>C (n.*6922A>C)
n.5614A>C
n.525A>C
c.7291A>C (p.Thr2431Pro)
c.7207A>C (p.Thr2403Pro)
c.7177A>C (p.Thr2393Pro)
c.7129A>C (p.Thr2377Pro)
c.7090A>C (p.Thr2364Pro)
c.7015A>C (p.Thr2339Pro)
n.8886A>C
c.7204A>C (p.Thr2402Pro)
c.7174A>C (p.Thr2392Pro)
c.7126A>C (p.Thr2376Pro)
c.7093A>C (p.Thr2365Pro)
c.7063A>C (p.Thr2355Pro)
c.7060A>C (p.Thr2354Pro)
c.7012A>C (p.Thr2338Pro)
c.6976A>C (p.Thr2326Pro)
c.6973A>C (p.Thr2325Pro)
c.6928A>C (p.Thr2310Pro)
n.7593A>C
Xg.77508537T>ACA517374158ATRXc.7293A>T (p.Ala2431=)
c.2391A>T (p.Ala797=)
c.7179A>T (p.Ala2393=)
c.*6921A>T (n.*6921A>T)
n.5613A>T
n.524A>T
c.7290A>T (p.Ala2430=)
c.7206A>T (p.Ala2402=)
c.7176A>T (p.Ala2392=)
c.7128A>T (p.Ala2376=)
c.7089A>T (p.Ala2363=)
c.7014A>T (p.Ala2338=)
n.8885A>T
c.7203A>T (p.Ala2401=)
c.7173A>T (p.Ala2391=)
c.7125A>T (p.Ala2375=)
c.7092A>T (p.Ala2364=)
c.7062A>T (p.Ala2354=)
c.7059A>T (p.Ala2353=)
c.7011A>T (p.Ala2337=)
c.6975A>T (p.Ala2325=)
c.6972A>T (p.Ala2324=)
c.6927A>T (p.Ala2309=)
n.7592A>T
Xg.77508537T>CCA517374159ATRXc.7293A>G (p.Ala2431=)
c.2391A>G (p.Ala797=)
c.7179A>G (p.Ala2393=)
c.*6921A>G (n.*6921A>G)
n.5613A>G
n.524A>G
c.7290A>G (p.Ala2430=)
c.7206A>G (p.Ala2402=)
c.7176A>G (p.Ala2392=)
c.7128A>G (p.Ala2376=)
c.7089A>G (p.Ala2363=)
c.7014A>G (p.Ala2338=)
n.8885A>G
c.7203A>G (p.Ala2401=)
c.7173A>G (p.Ala2391=)
c.7125A>G (p.Ala2375=)
c.7092A>G (p.Ala2364=)
c.7062A>G (p.Ala2354=)
c.7059A>G (p.Ala2353=)
c.7011A>G (p.Ala2337=)
c.6975A>G (p.Ala2325=)
c.6972A>G (p.Ala2324=)
c.6927A>G (p.Ala2309=)
n.7592A>G
Xg.77508537T>GCA517374160ATRXc.7293A>C (p.Ala2431=)
c.2391A>C (p.Ala797=)
c.7179A>C (p.Ala2393=)
c.*6921A>C (n.*6921A>C)
n.5613A>C
n.524A>C
c.7290A>C (p.Ala2430=)
c.7206A>C (p.Ala2402=)
c.7176A>C (p.Ala2392=)
c.7128A>C (p.Ala2376=)
c.7089A>C (p.Ala2363=)
c.7014A>C (p.Ala2338=)
n.8885A>C
c.7203A>C (p.Ala2401=)
c.7173A>C (p.Ala2391=)
c.7125A>C (p.Ala2375=)
c.7092A>C (p.Ala2364=)
c.7062A>C (p.Ala2354=)
c.7059A>C (p.Ala2353=)
c.7011A>C (p.Ala2337=)
c.6975A>C (p.Ala2325=)
c.6972A>C (p.Ala2324=)
c.6927A>C (p.Ala2309=)
n.7592A>C
Xg.77508538G>ACA413704674ATRXc.7292C>T (p.Ala2431Val)
c.2390C>T (p.Ala797Val)
c.7178C>T (p.Ala2393Val)
c.*6920C>T (n.*6920C>T)
n.5612C>T
n.523C>T
c.7289C>T (p.Ala2430Val)
c.7205C>T (p.Ala2402Val)
c.7175C>T (p.Ala2392Val)
c.7127C>T (p.Ala2376Val)
c.7088C>T (p.Ala2363Val)
c.7013C>T (p.Ala2338Val)
n.8884C>T
c.7202C>T (p.Ala2401Val)
c.7172C>T (p.Ala2391Val)
c.7124C>T (p.Ala2375Val)
c.7091C>T (p.Ala2364Val)
c.7061C>T (p.Ala2354Val)
c.7058C>T (p.Ala2353Val)
c.7010C>T (p.Ala2337Val)
c.6974C>T (p.Ala2325Val)
c.6971C>T (p.Ala2324Val)
c.6926C>T (p.Ala2309Val)
n.7591C>T
 dbSNP
Xg.77508538G>CCA413704677ATRXc.7292C>G (p.Ala2431Gly)
c.2390C>G (p.Ala797Gly)
c.7178C>G (p.Ala2393Gly)
c.*6920C>G (n.*6920C>G)
n.5612C>G
n.523C>G
c.7289C>G (p.Ala2430Gly)
c.7205C>G (p.Ala2402Gly)
c.7175C>G (p.Ala2392Gly)
c.7127C>G (p.Ala2376Gly)
c.7088C>G (p.Ala2363Gly)
c.7013C>G (p.Ala2338Gly)
n.8884C>G
c.7202C>G (p.Ala2401Gly)
c.7172C>G (p.Ala2391Gly)
c.7124C>G (p.Ala2375Gly)
c.7091C>G (p.Ala2364Gly)
c.7061C>G (p.Ala2354Gly)
c.7058C>G (p.Ala2353Gly)
c.7010C>G (p.Ala2337Gly)
c.6974C>G (p.Ala2325Gly)
c.6971C>G (p.Ala2324Gly)
c.6926C>G (p.Ala2309Gly)
n.7591C>G
Xg.77508538G>TCA413704679ATRXc.7292C>A (p.Ala2431Glu)
c.2390C>A (p.Ala797Glu)
c.7178C>A (p.Ala2393Glu)
c.*6920C>A (n.*6920C>A)
n.5612C>A
n.523C>A
c.7289C>A (p.Ala2430Glu)
c.7205C>A (p.Ala2402Glu)
c.7175C>A (p.Ala2392Glu)
c.7127C>A (p.Ala2376Glu)
c.7088C>A (p.Ala2363Glu)
c.7013C>A (p.Ala2338Glu)
n.8884C>A
c.7202C>A (p.Ala2401Glu)
c.7172C>A (p.Ala2391Glu)
c.7124C>A (p.Ala2375Glu)
c.7091C>A (p.Ala2364Glu)
c.7061C>A (p.Ala2354Glu)
c.7058C>A (p.Ala2353Glu)
c.7010C>A (p.Ala2337Glu)
c.6974C>A (p.Ala2325Glu)
c.6971C>A (p.Ala2324Glu)
c.6926C>A (p.Ala2309Glu)
n.7591C>A
Xg.77508538_77508539delinsGCCA2438929066ATRXc.7291_7292delinsGC (p.Ala2431=)
c.2389_2390delinsGC (p.Ala797=)
c.7177_7178delinsGC (p.Ala2393=)
c.*6919_*6920delinsGC (n.*6919_*6920delinsGC)
n.5611_5612delinsGC
n.522_523delinsGC
c.7288_7289delinsGC (p.Ala2430=)
c.7204_7205delinsGC (p.Ala2402=)
c.7174_7175delinsGC (p.Ala2392=)
c.7126_7127delinsGC (p.Ala2376=)
c.7087_7088delinsGC (p.Ala2363=)
c.7012_7013delinsGC (p.Ala2338=)
n.8883_8884delinsGC
c.7201_7202delinsGC (p.Ala2401=)
c.7171_7172delinsGC (p.Ala2391=)
c.7123_7124delinsGC (p.Ala2375=)
c.7090_7091delinsGC (p.Ala2364=)
c.7060_7061delinsGC (p.Ala2354=)
c.7057_7058delinsGC (p.Ala2353=)
c.7009_7010delinsGC (p.Ala2337=)
c.6973_6974delinsGC (p.Ala2325=)
c.6970_6971delinsGC (p.Ala2324=)
c.6925_6926delinsGC (p.Ala2309=)
n.7590_7591delinsGC
Xg.77508539delCA878453053ATRXc.7291del (p.Ala2431GlnfsTer7)
c.2389del (p.Ala797GlnfsTer7)
c.7177del (p.Ala2393GlnfsTer7)
c.*6919del (n.*6919del)
n.5611del
n.522del
c.7288del (p.Ala2430GlnfsTer7)
c.7204del (p.Ala2402GlnfsTer7)
c.7174del (p.Ala2392GlnfsTer7)
c.7126del (p.Ala2376GlnfsTer7)
c.7087del (p.Ala2363GlnfsTer7)
c.7012del (p.Ala2338GlnfsTer7)
n.8883del
c.7201del (p.Ala2401GlnfsTer7)
c.7171del (p.Ala2391GlnfsTer7)
c.7123del (p.Ala2375GlnfsTer7)
c.7090del (p.Ala2364GlnfsTer7)
c.7060del (p.Ala2354GlnfsTer7)
c.7057del (p.Ala2353GlnfsTer7)
c.7009del (p.Ala2337GlnfsTer7)
c.6973del (p.Ala2325GlnfsTer7)
c.6970del (p.Ala2324GlnfsTer7)
c.6925del (p.Ala2309GlnfsTer7)
n.7590del
 dbSNP gnomAD v3 gnomAD v4
Xg.77508539C>ACA413704685ATRXc.7291G>T (p.Ala2431Ser)
c.2389G>T (p.Ala797Ser)
c.7177G>T (p.Ala2393Ser)
c.*6919G>T (n.*6919G>T)
n.5611G>T
n.522G>T
c.7288G>T (p.Ala2430Ser)
c.7204G>T (p.Ala2402Ser)
c.7174G>T (p.Ala2392Ser)
c.7126G>T (p.Ala2376Ser)
c.7087G>T (p.Ala2363Ser)
c.7012G>T (p.Ala2338Ser)
n.8883G>T
c.7201G>T (p.Ala2401Ser)
c.7171G>T (p.Ala2391Ser)
c.7123G>T (p.Ala2375Ser)
c.7090G>T (p.Ala2364Ser)
c.7060G>T (p.Ala2354Ser)
c.7057G>T (p.Ala2353Ser)
c.7009G>T (p.Ala2337Ser)
c.6973G>T (p.Ala2325Ser)
c.6970G>T (p.Ala2324Ser)
c.6925G>T (p.Ala2309Ser)
n.7590G>T
Xg.77508539C>GCA413704688ATRXc.7291G>C (p.Ala2431Pro)
c.2389G>C (p.Ala797Pro)
c.7177G>C (p.Ala2393Pro)
c.*6919G>C (n.*6919G>C)
n.5611G>C
n.522G>C
c.7288G>C (p.Ala2430Pro)
c.7204G>C (p.Ala2402Pro)
c.7174G>C (p.Ala2392Pro)
c.7126G>C (p.Ala2376Pro)
c.7087G>C (p.Ala2363Pro)
c.7012G>C (p.Ala2338Pro)
n.8883G>C
c.7201G>C (p.Ala2401Pro)
c.7171G>C (p.Ala2391Pro)
c.7123G>C (p.Ala2375Pro)
c.7090G>C (p.Ala2364Pro)
c.7060G>C (p.Ala2354Pro)
c.7057G>C (p.Ala2353Pro)
c.7009G>C (p.Ala2337Pro)
c.6973G>C (p.Ala2325Pro)
c.6970G>C (p.Ala2324Pro)
c.6925G>C (p.Ala2309Pro)
n.7590G>C
Xg.77508539C>TCA413704691ATRXc.7291G>A (p.Ala2431Thr)
c.2389G>A (p.Ala797Thr)
c.7177G>A (p.Ala2393Thr)
c.*6919G>A (n.*6919G>A)
n.5611G>A
n.522G>A
c.7288G>A (p.Ala2430Thr)
c.7204G>A (p.Ala2402Thr)
c.7174G>A (p.Ala2392Thr)
c.7126G>A (p.Ala2376Thr)
c.7087G>A (p.Ala2363Thr)
c.7012G>A (p.Ala2338Thr)
n.8883G>A
c.7201G>A (p.Ala2401Thr)
c.7171G>A (p.Ala2391Thr)
c.7123G>A (p.Ala2375Thr)
c.7090G>A (p.Ala2364Thr)
c.7060G>A (p.Ala2354Thr)
c.7057G>A (p.Ala2353Thr)
c.7009G>A (p.Ala2337Thr)
c.6973G>A (p.Ala2325Thr)
c.6970G>A (p.Ala2324Thr)
c.6925G>A (p.Ala2309Thr)
n.7590G>A
Xg.77508540T>ACA413704696ATRXc.7290A>T (p.Gln2430His)
c.2388A>T (p.Gln796His)
c.7176A>T (p.Gln2392His)
c.*6918A>T (n.*6918A>T)
n.5610A>T
n.521A>T
c.7287A>T (p.Gln2429His)
c.7203A>T (p.Gln2401His)
c.7173A>T (p.Gln2391His)
c.7125A>T (p.Gln2375His)
c.7086A>T (p.Gln2362His)
c.7011A>T (p.Gln2337His)
n.8882A>T
c.7200A>T (p.Gln2400His)
c.7170A>T (p.Gln2390His)
c.7122A>T (p.Gln2374His)
c.7089A>T (p.Gln2363His)
c.7059A>T (p.Gln2353His)
c.7056A>T (p.Gln2352His)
c.7008A>T (p.Gln2336His)
c.6972A>T (p.Gln2324His)
c.6969A>T (p.Gln2323His)
c.6924A>T (p.Gln2308His)
n.7589A>T
Xg.77508540T>CCA517374161ATRXc.7290A>G (p.Gln2430=)
c.2388A>G (p.Gln796=)
c.7176A>G (p.Gln2392=)
c.*6918A>G (n.*6918A>G)
n.5610A>G
n.521A>G
c.7287A>G (p.Gln2429=)
c.7203A>G (p.Gln2401=)
c.7173A>G (p.Gln2391=)
c.7125A>G (p.Gln2375=)
c.7086A>G (p.Gln2362=)
c.7011A>G (p.Gln2337=)
n.8882A>G
c.7200A>G (p.Gln2400=)
c.7170A>G (p.Gln2390=)
c.7122A>G (p.Gln2374=)
c.7089A>G (p.Gln2363=)
c.7059A>G (p.Gln2353=)
c.7056A>G (p.Gln2352=)
c.7008A>G (p.Gln2336=)
c.6972A>G (p.Gln2324=)
c.6969A>G (p.Gln2323=)
c.6924A>G (p.Gln2308=)
n.7589A>G
Xg.77508540T>GCA413704694ATRXc.7290A>C (p.Gln2430His)
c.2388A>C (p.Gln796His)
c.7176A>C (p.Gln2392His)
c.*6918A>C (n.*6918A>C)
n.5610A>C
n.521A>C
c.7287A>C (p.Gln2429His)
c.7203A>C (p.Gln2401His)
c.7173A>C (p.Gln2391His)
c.7125A>C (p.Gln2375His)
c.7086A>C (p.Gln2362His)
c.7011A>C (p.Gln2337His)
n.8882A>C
c.7200A>C (p.Gln2400His)
c.7170A>C (p.Gln2390His)
c.7122A>C (p.Gln2374His)
c.7089A>C (p.Gln2363His)
c.7059A>C (p.Gln2353His)
c.7056A>C (p.Gln2352His)
c.7008A>C (p.Gln2336His)
c.6972A>C (p.Gln2324His)
c.6969A>C (p.Gln2323His)
c.6924A>C (p.Gln2308His)
n.7589A>C
Xg.77508541T>ACA413704701ATRXc.7289A>T (p.Gln2430Leu)
c.2387A>T (p.Gln796Leu)
c.7175A>T (p.Gln2392Leu)
c.*6917A>T (n.*6917A>T)
n.5609A>T
n.520A>T
c.7286A>T (p.Gln2429Leu)
c.7202A>T (p.Gln2401Leu)
c.7172A>T (p.Gln2391Leu)
c.7124A>T (p.Gln2375Leu)
c.7085A>T (p.Gln2362Leu)
c.7010A>T (p.Gln2337Leu)
n.8881A>T
c.7199A>T (p.Gln2400Leu)
c.7169A>T (p.Gln2390Leu)
c.7121A>T (p.Gln2374Leu)
c.7088A>T (p.Gln2363Leu)
c.7058A>T (p.Gln2353Leu)
c.7055A>T (p.Gln2352Leu)
c.7007A>T (p.Gln2336Leu)
c.6971A>T (p.Gln2324Leu)
c.6968A>T (p.Gln2323Leu)
c.6923A>T (p.Gln2308Leu)
n.7588A>T
Xg.77508541T>CCA413704704ATRXc.7289A>G (p.Gln2430Arg)
c.2387A>G (p.Gln796Arg)
c.7175A>G (p.Gln2392Arg)
c.*6917A>G (n.*6917A>G)
n.5609A>G
n.520A>G
c.7286A>G (p.Gln2429Arg)
c.7202A>G (p.Gln2401Arg)
c.7172A>G (p.Gln2391Arg)
c.7124A>G (p.Gln2375Arg)
c.7085A>G (p.Gln2362Arg)
c.7010A>G (p.Gln2337Arg)
n.8881A>G
c.7199A>G (p.Gln2400Arg)
c.7169A>G (p.Gln2390Arg)
c.7121A>G (p.Gln2374Arg)
c.7088A>G (p.Gln2363Arg)
c.7058A>G (p.Gln2353Arg)
c.7055A>G (p.Gln2352Arg)
c.7007A>G (p.Gln2336Arg)
c.6971A>G (p.Gln2324Arg)
c.6968A>G (p.Gln2323Arg)
c.6923A>G (p.Gln2308Arg)
n.7588A>G
Xg.77508541T>GCA413704705ATRXc.7289A>C (p.Gln2430Pro)
c.2387A>C (p.Gln796Pro)
c.7175A>C (p.Gln2392Pro)
c.*6917A>C (n.*6917A>C)
n.5609A>C
n.520A>C
c.7286A>C (p.Gln2429Pro)
c.7202A>C (p.Gln2401Pro)
c.7172A>C (p.Gln2391Pro)
c.7124A>C (p.Gln2375Pro)
c.7085A>C (p.Gln2362Pro)
c.7010A>C (p.Gln2337Pro)
n.8881A>C
c.7199A>C (p.Gln2400Pro)
c.7169A>C (p.Gln2390Pro)
c.7121A>C (p.Gln2374Pro)
c.7088A>C (p.Gln2363Pro)
c.7058A>C (p.Gln2353Pro)
c.7055A>C (p.Gln2352Pro)
c.7007A>C (p.Gln2336Pro)
c.6971A>C (p.Gln2324Pro)
c.6968A>C (p.Gln2323Pro)
c.6923A>C (p.Gln2308Pro)
n.7588A>C
Xg.77508542G>ACA413704710ATRXc.7288C>T (p.Gln2430Ter)
c.2386C>T (p.Gln796Ter)
c.7174C>T (p.Gln2392Ter)
c.*6916C>T (n.*6916C>T)
n.5608C>T
n.519C>T
c.7285C>T (p.Gln2429Ter)
c.7201C>T (p.Gln2401Ter)
c.7171C>T (p.Gln2391Ter)
c.7123C>T (p.Gln2375Ter)
c.7084C>T (p.Gln2362Ter)
c.7009C>T (p.Gln2337Ter)
n.8880C>T
c.7198C>T (p.Gln2400Ter)
c.7168C>T (p.Gln2390Ter)
c.7120C>T (p.Gln2374Ter)
c.7087C>T (p.Gln2363Ter)
c.7057C>T (p.Gln2353Ter)
c.7054C>T (p.Gln2352Ter)
c.7006C>T (p.Gln2336Ter)
c.6970C>T (p.Gln2324Ter)
c.6967C>T (p.Gln2323Ter)
c.6922C>T (p.Gln2308Ter)
n.7587C>T
Xg.77508542G>CCA413704713ATRXc.7288C>G (p.Gln2430Glu)
c.2386C>G (p.Gln796Glu)
c.7174C>G (p.Gln2392Glu)
c.*6916C>G (n.*6916C>G)
n.5608C>G
n.519C>G
c.7285C>G (p.Gln2429Glu)
c.7201C>G (p.Gln2401Glu)
c.7171C>G (p.Gln2391Glu)
c.7123C>G (p.Gln2375Glu)
c.7084C>G (p.Gln2362Glu)
c.7009C>G (p.Gln2337Glu)
n.8880C>G
c.7198C>G (p.Gln2400Glu)
c.7168C>G (p.Gln2390Glu)
c.7120C>G (p.Gln2374Glu)
c.7087C>G (p.Gln2363Glu)
c.7057C>G (p.Gln2353Glu)
c.7054C>G (p.Gln2352Glu)
c.7006C>G (p.Gln2336Glu)
c.6970C>G (p.Gln2324Glu)
c.6967C>G (p.Gln2323Glu)
c.6922C>G (p.Gln2308Glu)
n.7587C>G
 dbSNP
Xg.77508542G>TCA413704715ATRXc.7288C>A (p.Gln2430Lys)
c.2386C>A (p.Gln796Lys)
c.7174C>A (p.Gln2392Lys)
c.*6916C>A (n.*6916C>A)
n.5608C>A
n.519C>A
c.7285C>A (p.Gln2429Lys)
c.7201C>A (p.Gln2401Lys)
c.7171C>A (p.Gln2391Lys)
c.7123C>A (p.Gln2375Lys)
c.7084C>A (p.Gln2362Lys)
c.7009C>A (p.Gln2337Lys)
n.8880C>A
c.7198C>A (p.Gln2400Lys)
c.7168C>A (p.Gln2390Lys)
c.7120C>A (p.Gln2374Lys)
c.7087C>A (p.Gln2363Lys)
c.7057C>A (p.Gln2353Lys)
c.7054C>A (p.Gln2352Lys)
c.7006C>A (p.Gln2336Lys)
c.6970C>A (p.Gln2324Lys)
c.6967C>A (p.Gln2323Lys)
c.6922C>A (p.Gln2308Lys)
n.7587C>A
Xg.77508543T>ACA413704720ATRXc.7287A>T (p.Gln2429His)
c.2385A>T (p.Gln795His)
c.7173A>T (p.Gln2391His)
c.*6915A>T (n.*6915A>T)
n.5607A>T
n.518A>T
c.7284A>T (p.Gln2428His)
c.7200A>T (p.Gln2400His)
c.7170A>T (p.Gln2390His)
c.7122A>T (p.Gln2374His)
c.7083A>T (p.Gln2361His)
c.7008A>T (p.Gln2336His)
n.8879A>T
c.7197A>T (p.Gln2399His)
c.7167A>T (p.Gln2389His)
c.7119A>T (p.Gln2373His)
c.7086A>T (p.Gln2362His)
c.7056A>T (p.Gln2352His)
c.7053A>T (p.Gln2351His)
c.7005A>T (p.Gln2335His)
c.6969A>T (p.Gln2323His)
c.6966A>T (p.Gln2322His)
c.6921A>T (p.Gln2307His)
n.7586A>T
 dbSNP
Xg.77508543T>CCA517374163ATRXc.7287A>G (p.Gln2429=)
c.2385A>G (p.Gln795=)
c.7173A>G (p.Gln2391=)
c.*6915A>G (n.*6915A>G)
n.5607A>G
n.518A>G
c.7284A>G (p.Gln2428=)
c.7200A>G (p.Gln2400=)
c.7170A>G (p.Gln2390=)
c.7122A>G (p.Gln2374=)
c.7083A>G (p.Gln2361=)
c.7008A>G (p.Gln2336=)
n.8879A>G
c.7197A>G (p.Gln2399=)
c.7167A>G (p.Gln2389=)
c.7119A>G (p.Gln2373=)
c.7086A>G (p.Gln2362=)
c.7056A>G (p.Gln2352=)
c.7053A>G (p.Gln2351=)
c.7005A>G (p.Gln2335=)
c.6969A>G (p.Gln2323=)
c.6966A>G (p.Gln2322=)
c.6921A>G (p.Gln2307=)
n.7586A>G
 gnomAD v4
Xg.77508543T>GCA413704722ATRXc.7287A>C (p.Gln2429His)
c.2385A>C (p.Gln795His)
c.7173A>C (p.Gln2391His)
c.*6915A>C (n.*6915A>C)
n.5607A>C
n.518A>C
c.7284A>C (p.Gln2428His)
c.7200A>C (p.Gln2400His)
c.7170A>C (p.Gln2390His)
c.7122A>C (p.Gln2374His)
c.7083A>C (p.Gln2361His)
c.7008A>C (p.Gln2336His)
n.8879A>C
c.7197A>C (p.Gln2399His)
c.7167A>C (p.Gln2389His)
c.7119A>C (p.Gln2373His)
c.7086A>C (p.Gln2362His)
c.7056A>C (p.Gln2352His)
c.7053A>C (p.Gln2351His)
c.7005A>C (p.Gln2335His)
c.6969A>C (p.Gln2323His)
c.6966A>C (p.Gln2322His)
c.6921A>C (p.Gln2307His)
n.7586A>C
Xg.77508544T>ACA413704725ATRXc.7286A>T (p.Gln2429Leu)
c.2384A>T (p.Gln795Leu)
c.7172A>T (p.Gln2391Leu)
c.*6914A>T (n.*6914A>T)
n.5606A>T
n.517A>T
c.7283A>T (p.Gln2428Leu)
c.7199A>T (p.Gln2400Leu)
c.7169A>T (p.Gln2390Leu)
c.7121A>T (p.Gln2374Leu)
c.7082A>T (p.Gln2361Leu)
c.7007A>T (p.Gln2336Leu)
n.8878A>T
c.7196A>T (p.Gln2399Leu)
c.7166A>T (p.Gln2389Leu)
c.7118A>T (p.Gln2373Leu)
c.7085A>T (p.Gln2362Leu)
c.7055A>T (p.Gln2352Leu)
c.7052A>T (p.Gln2351Leu)
c.7004A>T (p.Gln2335Leu)
c.6968A>T (p.Gln2323Leu)
c.6965A>T (p.Gln2322Leu)
c.6920A>T (p.Gln2307Leu)
n.7585A>T
Xg.77508544T>CCA413704728ATRXc.7286A>G (p.Gln2429Arg)
c.2384A>G (p.Gln795Arg)
c.7172A>G (p.Gln2391Arg)
c.*6914A>G (n.*6914A>G)
n.5606A>G
n.517A>G
c.7283A>G (p.Gln2428Arg)
c.7199A>G (p.Gln2400Arg)
c.7169A>G (p.Gln2390Arg)
c.7121A>G (p.Gln2374Arg)
c.7082A>G (p.Gln2361Arg)
c.7007A>G (p.Gln2336Arg)
n.8878A>G
c.7196A>G (p.Gln2399Arg)
c.7166A>G (p.Gln2389Arg)
c.7118A>G (p.Gln2373Arg)
c.7085A>G (p.Gln2362Arg)
c.7055A>G (p.Gln2352Arg)
c.7052A>G (p.Gln2351Arg)
c.7004A>G (p.Gln2335Arg)
c.6968A>G (p.Gln2323Arg)
c.6965A>G (p.Gln2322Arg)
c.6920A>G (p.Gln2307Arg)
n.7585A>G
Xg.77508544T>GCA413704732ATRXc.7286A>C (p.Gln2429Pro)
c.2384A>C (p.Gln795Pro)
c.7172A>C (p.Gln2391Pro)
c.*6914A>C (n.*6914A>C)
n.5606A>C
n.517A>C
c.7283A>C (p.Gln2428Pro)
c.7199A>C (p.Gln2400Pro)
c.7169A>C (p.Gln2390Pro)
c.7121A>C (p.Gln2374Pro)
c.7082A>C (p.Gln2361Pro)
c.7007A>C (p.Gln2336Pro)
n.8878A>C
c.7196A>C (p.Gln2399Pro)
c.7166A>C (p.Gln2389Pro)
c.7118A>C (p.Gln2373Pro)
c.7085A>C (p.Gln2362Pro)
c.7055A>C (p.Gln2352Pro)
c.7052A>C (p.Gln2351Pro)
c.7004A>C (p.Gln2335Pro)
c.6968A>C (p.Gln2323Pro)
c.6965A>C (p.Gln2322Pro)
c.6920A>C (p.Gln2307Pro)
n.7585A>C
Xg.77508545G>ACA413704735ATRXc.7285C>T (p.Gln2429Ter)
c.2383C>T (p.Gln795Ter)
c.7171C>T (p.Gln2391Ter)
c.*6913C>T (n.*6913C>T)
n.5605C>T
n.516C>T
c.7282C>T (p.Gln2428Ter)
c.7198C>T (p.Gln2400Ter)
c.7168C>T (p.Gln2390Ter)
c.7120C>T (p.Gln2374Ter)
c.7081C>T (p.Gln2361Ter)
c.7006C>T (p.Gln2336Ter)
n.8877C>T
c.7195C>T (p.Gln2399Ter)
c.7165C>T (p.Gln2389Ter)
c.7117C>T (p.Gln2373Ter)
c.7084C>T (p.Gln2362Ter)
c.7054C>T (p.Gln2352Ter)
c.7051C>T (p.Gln2351Ter)
c.7003C>T (p.Gln2335Ter)
c.6967C>T (p.Gln2323Ter)
c.6964C>T (p.Gln2322Ter)
c.6919C>T (p.Gln2307Ter)
n.7584C>T
 dbSNP
Xg.77508545G>CCA413704739ATRXc.7285C>G (p.Gln2429Glu)
c.2383C>G (p.Gln795Glu)
c.7171C>G (p.Gln2391Glu)
c.*6913C>G (n.*6913C>G)
n.5605C>G
n.516C>G
c.7282C>G (p.Gln2428Glu)
c.7198C>G (p.Gln2400Glu)
c.7168C>G (p.Gln2390Glu)
c.7120C>G (p.Gln2374Glu)
c.7081C>G (p.Gln2361Glu)
c.7006C>G (p.Gln2336Glu)
n.8877C>G
c.7195C>G (p.Gln2399Glu)
c.7165C>G (p.Gln2389Glu)
c.7117C>G (p.Gln2373Glu)
c.7084C>G (p.Gln2362Glu)
c.7054C>G (p.Gln2352Glu)
c.7051C>G (p.Gln2351Glu)
c.7003C>G (p.Gln2335Glu)
c.6967C>G (p.Gln2323Glu)
c.6964C>G (p.Gln2322Glu)
c.6919C>G (p.Gln2307Glu)
n.7584C>G
 dbSNP
Xg.77508545G>TCA413704741ATRXc.7285C>A (p.Gln2429Lys)
c.2383C>A (p.Gln795Lys)
c.7171C>A (p.Gln2391Lys)
c.*6913C>A (n.*6913C>A)
n.5605C>A
n.516C>A
c.7282C>A (p.Gln2428Lys)
c.7198C>A (p.Gln2400Lys)
c.7168C>A (p.Gln2390Lys)
c.7120C>A (p.Gln2374Lys)
c.7081C>A (p.Gln2361Lys)
c.7006C>A (p.Gln2336Lys)
n.8877C>A
c.7195C>A (p.Gln2399Lys)
c.7165C>A (p.Gln2389Lys)
c.7117C>A (p.Gln2373Lys)
c.7084C>A (p.Gln2362Lys)
c.7054C>A (p.Gln2352Lys)
c.7051C>A (p.Gln2351Lys)
c.7003C>A (p.Gln2335Lys)
c.6967C>A (p.Gln2323Lys)
c.6964C>A (p.Gln2322Lys)
c.6919C>A (p.Gln2307Lys)
n.7584C>A
Xg.77508546A>CCA413704746ATRXc.7284T>G (p.Tyr2428Ter)
c.2382T>G (p.Tyr794Ter)
c.7170T>G (p.Tyr2390Ter)
c.*6912T>G (n.*6912T>G)
n.5604T>G
n.515T>G
c.7281T>G (p.Tyr2427Ter)
c.7197T>G (p.Tyr2399Ter)
c.7167T>G (p.Tyr2389Ter)
c.7119T>G (p.Tyr2373Ter)
c.7080T>G (p.Tyr2360Ter)
c.7005T>G (p.Tyr2335Ter)
n.8876T>G
c.7194T>G (p.Tyr2398Ter)
c.7164T>G (p.Tyr2388Ter)
c.7116T>G (p.Tyr2372Ter)
c.7083T>G (p.Tyr2361Ter)
c.7053T>G (p.Tyr2351Ter)
c.7050T>G (p.Tyr2350Ter)
c.7002T>G (p.Tyr2334Ter)
c.6966T>G (p.Tyr2322Ter)
c.6963T>G (p.Tyr2321Ter)
c.6918T>G (p.Tyr2306Ter)
n.7583T>G
Xg.77508546A>GCA517374164ATRXc.7284T>C (p.Tyr2428=)
c.2382T>C (p.Tyr794=)
c.7170T>C (p.Tyr2390=)
c.*6912T>C (n.*6912T>C)
n.5604T>C
n.515T>C
c.7281T>C (p.Tyr2427=)
c.7197T>C (p.Tyr2399=)
c.7167T>C (p.Tyr2389=)
c.7119T>C (p.Tyr2373=)
c.7080T>C (p.Tyr2360=)
c.7005T>C (p.Tyr2335=)
n.8876T>C
c.7194T>C (p.Tyr2398=)
c.7164T>C (p.Tyr2388=)
c.7116T>C (p.Tyr2372=)
c.7083T>C (p.Tyr2361=)
c.7053T>C (p.Tyr2351=)
c.7050T>C (p.Tyr2350=)
c.7002T>C (p.Tyr2334=)
c.6966T>C (p.Tyr2322=)
c.6963T>C (p.Tyr2321=)
c.6918T>C (p.Tyr2306=)
n.7583T>C
 ClinVar dbSNP gnomAD v4
Xg.77508546A>TCA413704750ATRXc.7284T>A (p.Tyr2428Ter)
c.2382T>A (p.Tyr794Ter)
c.7170T>A (p.Tyr2390Ter)
c.*6912T>A (n.*6912T>A)
n.5604T>A
n.515T>A
c.7281T>A (p.Tyr2427Ter)
c.7197T>A (p.Tyr2399Ter)
c.7167T>A (p.Tyr2389Ter)
c.7119T>A (p.Tyr2373Ter)
c.7080T>A (p.Tyr2360Ter)
c.7005T>A (p.Tyr2335Ter)
n.8876T>A
c.7194T>A (p.Tyr2398Ter)
c.7164T>A (p.Tyr2388Ter)
c.7116T>A (p.Tyr2372Ter)
c.7083T>A (p.Tyr2361Ter)
c.7053T>A (p.Tyr2351Ter)
c.7050T>A (p.Tyr2350Ter)
c.7002T>A (p.Tyr2334Ter)
c.6966T>A (p.Tyr2322Ter)
c.6963T>A (p.Tyr2321Ter)
c.6918T>A (p.Tyr2306Ter)
n.7583T>A
 dbSNP
Xg.77508547T>ACA413704755ATRXc.7283A>T (p.Tyr2428Phe)
c.2381A>T (p.Tyr794Phe)
c.7169A>T (p.Tyr2390Phe)
c.*6911A>T (n.*6911A>T)
n.5603A>T
n.514A>T
c.7280A>T (p.Tyr2427Phe)
c.7196A>T (p.Tyr2399Phe)
c.7166A>T (p.Tyr2389Phe)
c.7118A>T (p.Tyr2373Phe)
c.7079A>T (p.Tyr2360Phe)
c.7004A>T (p.Tyr2335Phe)
n.8875A>T
c.7193A>T (p.Tyr2398Phe)
c.7163A>T (p.Tyr2388Phe)
c.7115A>T (p.Tyr2372Phe)
c.7082A>T (p.Tyr2361Phe)
c.7052A>T (p.Tyr2351Phe)
c.7049A>T (p.Tyr2350Phe)
c.7001A>T (p.Tyr2334Phe)
c.6965A>T (p.Tyr2322Phe)
c.6962A>T (p.Tyr2321Phe)
c.6917A>T (p.Tyr2306Phe)
n.7582A>T
 dbSNP
Xg.77508547T>CCA413704757ATRXc.7283A>G (p.Tyr2428Cys)
c.2381A>G (p.Tyr794Cys)
c.7169A>G (p.Tyr2390Cys)
c.*6911A>G (n.*6911A>G)
n.5603A>G
n.514A>G
c.7280A>G (p.Tyr2427Cys)
c.7196A>G (p.Tyr2399Cys)
c.7166A>G (p.Tyr2389Cys)
c.7118A>G (p.Tyr2373Cys)
c.7079A>G (p.Tyr2360Cys)
c.7004A>G (p.Tyr2335Cys)
n.8875A>G
c.7193A>G (p.Tyr2398Cys)
c.7163A>G (p.Tyr2388Cys)
c.7115A>G (p.Tyr2372Cys)
c.7082A>G (p.Tyr2361Cys)
c.7052A>G (p.Tyr2351Cys)
c.7049A>G (p.Tyr2350Cys)
c.7001A>G (p.Tyr2334Cys)
c.6965A>G (p.Tyr2322Cys)
c.6962A>G (p.Tyr2321Cys)
c.6917A>G (p.Tyr2306Cys)
n.7582A>G
Xg.77508547T>GCA413704762ATRXc.7283A>C (p.Tyr2428Ser)
c.2381A>C (p.Tyr794Ser)
c.7169A>C (p.Tyr2390Ser)
c.*6911A>C (n.*6911A>C)
n.5603A>C
n.514A>C
c.7280A>C (p.Tyr2427Ser)
c.7196A>C (p.Tyr2399Ser)
c.7166A>C (p.Tyr2389Ser)
c.7118A>C (p.Tyr2373Ser)
c.7079A>C (p.Tyr2360Ser)
c.7004A>C (p.Tyr2335Ser)
n.8875A>C
c.7193A>C (p.Tyr2398Ser)
c.7163A>C (p.Tyr2388Ser)
c.7115A>C (p.Tyr2372Ser)
c.7082A>C (p.Tyr2361Ser)
c.7052A>C (p.Tyr2351Ser)
c.7049A>C (p.Tyr2350Ser)
c.7001A>C (p.Tyr2334Ser)
c.6965A>C (p.Tyr2322Ser)
c.6962A>C (p.Tyr2321Ser)
c.6917A>C (p.Tyr2306Ser)
n.7582A>C
Xg.77508548A>CCA413704766ATRXc.7282T>G (p.Tyr2428Asp)
c.2380T>G (p.Tyr794Asp)
c.7168T>G (p.Tyr2390Asp)
c.*6910T>G (n.*6910T>G)
n.5602T>G
n.513T>G
c.7279T>G (p.Tyr2427Asp)
c.7195T>G (p.Tyr2399Asp)
c.7165T>G (p.Tyr2389Asp)
c.7117T>G (p.Tyr2373Asp)
c.7078T>G (p.Tyr2360Asp)
c.7003T>G (p.Tyr2335Asp)
n.8874T>G
c.7192T>G (p.Tyr2398Asp)
c.7162T>G (p.Tyr2388Asp)
c.7114T>G (p.Tyr2372Asp)
c.7081T>G (p.Tyr2361Asp)
c.7051T>G (p.Tyr2351Asp)
c.7048T>G (p.Tyr2350Asp)
c.7000T>G (p.Tyr2334Asp)
c.6964T>G (p.Tyr2322Asp)
c.6961T>G (p.Tyr2321Asp)
c.6916T>G (p.Tyr2306Asp)
n.7581T>G
Xg.77508548A>GCA413704768ATRXc.7282T>C (p.Tyr2428His)
c.2380T>C (p.Tyr794His)
c.7168T>C (p.Tyr2390His)
c.*6910T>C (n.*6910T>C)
n.5602T>C
n.513T>C
c.7279T>C (p.Tyr2427His)
c.7195T>C (p.Tyr2399His)
c.7165T>C (p.Tyr2389His)
c.7117T>C (p.Tyr2373His)
c.7078T>C (p.Tyr2360His)
c.7003T>C (p.Tyr2335His)
n.8874T>C
c.7192T>C (p.Tyr2398His)
c.7162T>C (p.Tyr2388His)
c.7114T>C (p.Tyr2372His)
c.7081T>C (p.Tyr2361His)
c.7051T>C (p.Tyr2351His)
c.7048T>C (p.Tyr2350His)
c.7000T>C (p.Tyr2334His)
c.6964T>C (p.Tyr2322His)
c.6961T>C (p.Tyr2321His)
c.6916T>C (p.Tyr2306His)
n.7581T>C
Xg.77508548A>TCA413704771ATRXc.7282T>A (p.Tyr2428Asn)
c.2380T>A (p.Tyr794Asn)
c.7168T>A (p.Tyr2390Asn)
c.*6910T>A (n.*6910T>A)
n.5602T>A
n.513T>A
c.7279T>A (p.Tyr2427Asn)
c.7195T>A (p.Tyr2399Asn)
c.7165T>A (p.Tyr2389Asn)
c.7117T>A (p.Tyr2373Asn)
c.7078T>A (p.Tyr2360Asn)
c.7003T>A (p.Tyr2335Asn)
n.8874T>A
c.7192T>A (p.Tyr2398Asn)
c.7162T>A (p.Tyr2388Asn)
c.7114T>A (p.Tyr2372Asn)
c.7081T>A (p.Tyr2361Asn)
c.7051T>A (p.Tyr2351Asn)
c.7048T>A (p.Tyr2350Asn)
c.7000T>A (p.Tyr2334Asn)
c.6964T>A (p.Tyr2322Asn)
c.6961T>A (p.Tyr2321Asn)
c.6916T>A (p.Tyr2306Asn)
n.7581T>A
Xg.77508549A>CCA517374165ATRXc.7281T>G (p.Thr2427=)
c.2379T>G (p.Thr793=)
c.7167T>G (p.Thr2389=)
c.*6909T>G (n.*6909T>G)
n.5601T>G
n.512T>G
c.7278T>G (p.Thr2426=)
c.7194T>G (p.Thr2398=)
c.7164T>G (p.Thr2388=)
c.7116T>G (p.Thr2372=)
c.7077T>G (p.Thr2359=)
c.7002T>G (p.Thr2334=)
n.8873T>G
c.7191T>G (p.Thr2397=)
c.7161T>G (p.Thr2387=)
c.7113T>G (p.Thr2371=)
c.7080T>G (p.Thr2360=)
c.7050T>G (p.Thr2350=)
c.7047T>G (p.Thr2349=)
c.6999T>G (p.Thr2333=)
c.6963T>G (p.Thr2321=)
c.6960T>G (p.Thr2320=)
c.6915T>G (p.Thr2305=)
n.7580T>G
Xg.77508549A>GCA517374166ATRXc.7281T>C (p.Thr2427=)
c.2379T>C (p.Thr793=)
c.7167T>C (p.Thr2389=)
c.*6909T>C (n.*6909T>C)
n.5601T>C
n.512T>C
c.7278T>C (p.Thr2426=)
c.7194T>C (p.Thr2398=)
c.7164T>C (p.Thr2388=)
c.7116T>C (p.Thr2372=)
c.7077T>C (p.Thr2359=)
c.7002T>C (p.Thr2334=)
n.8873T>C
c.7191T>C (p.Thr2397=)
c.7161T>C (p.Thr2387=)
c.7113T>C (p.Thr2371=)
c.7080T>C (p.Thr2360=)
c.7050T>C (p.Thr2350=)
c.7047T>C (p.Thr2349=)
c.6999T>C (p.Thr2333=)
c.6963T>C (p.Thr2321=)
c.6960T>C (p.Thr2320=)
c.6915T>C (p.Thr2305=)
n.7580T>C
Xg.77508549A>TCA517374167ATRXc.7281T>A (p.Thr2427=)
c.2379T>A (p.Thr793=)
c.7167T>A (p.Thr2389=)
c.*6909T>A (n.*6909T>A)
n.5601T>A
n.512T>A
c.7278T>A (p.Thr2426=)
c.7194T>A (p.Thr2398=)
c.7164T>A (p.Thr2388=)
c.7116T>A (p.Thr2372=)
c.7077T>A (p.Thr2359=)
c.7002T>A (p.Thr2334=)
n.8873T>A
c.7191T>A (p.Thr2397=)
c.7161T>A (p.Thr2387=)
c.7113T>A (p.Thr2371=)
c.7080T>A (p.Thr2360=)
c.7050T>A (p.Thr2350=)
c.7047T>A (p.Thr2349=)
c.6999T>A (p.Thr2333=)
c.6963T>A (p.Thr2321=)
c.6960T>A (p.Thr2320=)
c.6915T>A (p.Thr2305=)
n.7580T>A
 dbSNP
Xg.77508550G>ACA413704773ATRXc.7280C>T (p.Thr2427Ile)
c.2378C>T (p.Thr793Ile)
c.7166C>T (p.Thr2389Ile)
c.*6908C>T (n.*6908C>T)
n.5600C>T
n.511C>T
c.7277C>T (p.Thr2426Ile)
c.7193C>T (p.Thr2398Ile)
c.7163C>T (p.Thr2388Ile)
c.7115C>T (p.Thr2372Ile)
c.7076C>T (p.Thr2359Ile)
c.7001C>T (p.Thr2334Ile)
n.8872C>T
c.7190C>T (p.Thr2397Ile)
c.7160C>T (p.Thr2387Ile)
c.7112C>T (p.Thr2371Ile)
c.7079C>T (p.Thr2360Ile)
c.7049C>T (p.Thr2350Ile)
c.7046C>T (p.Thr2349Ile)
c.6998C>T (p.Thr2333Ile)
c.6962C>T (p.Thr2321Ile)
c.6959C>T (p.Thr2320Ile)
c.6914C>T (p.Thr2305Ile)
n.7579C>T
Xg.77508550G>CCA413704776ATRXc.7280C>G (p.Thr2427Ser)
c.2378C>G (p.Thr793Ser)
c.7166C>G (p.Thr2389Ser)
c.*6908C>G (n.*6908C>G)
n.5600C>G
n.511C>G
c.7277C>G (p.Thr2426Ser)
c.7193C>G (p.Thr2398Ser)
c.7163C>G (p.Thr2388Ser)
c.7115C>G (p.Thr2372Ser)
c.7076C>G (p.Thr2359Ser)
c.7001C>G (p.Thr2334Ser)
n.8872C>G
c.7190C>G (p.Thr2397Ser)
c.7160C>G (p.Thr2387Ser)
c.7112C>G (p.Thr2371Ser)
c.7079C>G (p.Thr2360Ser)
c.7049C>G (p.Thr2350Ser)
c.7046C>G (p.Thr2349Ser)
c.6998C>G (p.Thr2333Ser)
c.6962C>G (p.Thr2321Ser)
c.6959C>G (p.Thr2320Ser)
c.6914C>G (p.Thr2305Ser)
n.7579C>G
 dbSNP
Xg.77508550G>TCA413704780ATRXc.7280C>A (p.Thr2427Asn)
c.2378C>A (p.Thr793Asn)
c.7166C>A (p.Thr2389Asn)
c.*6908C>A (n.*6908C>A)
n.5600C>A
n.511C>A
c.7277C>A (p.Thr2426Asn)
c.7193C>A (p.Thr2398Asn)
c.7163C>A (p.Thr2388Asn)
c.7115C>A (p.Thr2372Asn)
c.7076C>A (p.Thr2359Asn)
c.7001C>A (p.Thr2334Asn)
n.8872C>A
c.7190C>A (p.Thr2397Asn)
c.7160C>A (p.Thr2387Asn)
c.7112C>A (p.Thr2371Asn)
c.7079C>A (p.Thr2360Asn)
c.7049C>A (p.Thr2350Asn)
c.7046C>A (p.Thr2349Asn)
c.6998C>A (p.Thr2333Asn)
c.6962C>A (p.Thr2321Asn)
c.6959C>A (p.Thr2320Asn)
c.6914C>A (p.Thr2305Asn)
n.7579C>A
Xg.77508551T>ACA413704784ATRXc.7279A>T (p.Thr2427Ser)
c.2377A>T (p.Thr793Ser)
c.7165A>T (p.Thr2389Ser)
c.*6907A>T (n.*6907A>T)
n.5599A>T
n.510A>T
c.7276A>T (p.Thr2426Ser)
c.7192A>T (p.Thr2398Ser)
c.7162A>T (p.Thr2388Ser)
c.7114A>T (p.Thr2372Ser)
c.7075A>T (p.Thr2359Ser)
c.7000A>T (p.Thr2334Ser)
n.8871A>T
c.7189A>T (p.Thr2397Ser)
c.7159A>T (p.Thr2387Ser)
c.7111A>T (p.Thr2371Ser)
c.7078A>T (p.Thr2360Ser)
c.7048A>T (p.Thr2350Ser)
c.7045A>T (p.Thr2349Ser)
c.6997A>T (p.Thr2333Ser)
c.6961A>T (p.Thr2321Ser)
c.6958A>T (p.Thr2320Ser)
c.6913A>T (p.Thr2305Ser)
n.7578A>T
 dbSNP
Xg.77508551T>CCA413704786ATRXc.7279A>G (p.Thr2427Ala)
c.2377A>G (p.Thr793Ala)
c.7165A>G (p.Thr2389Ala)
c.*6907A>G (n.*6907A>G)
n.5599A>G
n.510A>G
c.7276A>G (p.Thr2426Ala)
c.7192A>G (p.Thr2398Ala)
c.7162A>G (p.Thr2388Ala)
c.7114A>G (p.Thr2372Ala)
c.7075A>G (p.Thr2359Ala)
c.7000A>G (p.Thr2334Ala)
n.8871A>G
c.7189A>G (p.Thr2397Ala)
c.7159A>G (p.Thr2387Ala)
c.7111A>G (p.Thr2371Ala)
c.7078A>G (p.Thr2360Ala)
c.7048A>G (p.Thr2350Ala)
c.7045A>G (p.Thr2349Ala)
c.6997A>G (p.Thr2333Ala)
c.6961A>G (p.Thr2321Ala)
c.6958A>G (p.Thr2320Ala)
c.6913A>G (p.Thr2305Ala)
n.7578A>G
Xg.77508551T>GCA413704789ATRXc.7279A>C (p.Thr2427Pro)
c.2377A>C (p.Thr793Pro)
c.7165A>C (p.Thr2389Pro)
c.*6907A>C (n.*6907A>C)
n.5599A>C
n.510A>C
c.7276A>C (p.Thr2426Pro)
c.7192A>C (p.Thr2398Pro)
c.7162A>C (p.Thr2388Pro)
c.7114A>C (p.Thr2372Pro)
c.7075A>C (p.Thr2359Pro)
c.7000A>C (p.Thr2334Pro)
n.8871A>C
c.7189A>C (p.Thr2397Pro)
c.7159A>C (p.Thr2387Pro)
c.7111A>C (p.Thr2371Pro)
c.7078A>C (p.Thr2360Pro)
c.7048A>C (p.Thr2350Pro)
c.7045A>C (p.Thr2349Pro)
c.6997A>C (p.Thr2333Pro)
c.6961A>C (p.Thr2321Pro)
c.6958A>C (p.Thr2320Pro)
c.6913A>C (p.Thr2305Pro)
n.7578A>C
 dbSNP
Xg.77508552C>ACA413704797ATRXc.7278G>T (p.Met2426Ile)
c.2376G>T (p.Met792Ile)
c.7164G>T (p.Met2388Ile)
c.*6906G>T (n.*6906G>T)
n.5598G>T
n.509G>T
c.7275G>T (p.Met2425Ile)
c.7191G>T (p.Met2397Ile)
c.7161G>T (p.Met2387Ile)
c.7113G>T (p.Met2371Ile)
c.7074G>T (p.Met2358Ile)
c.6999G>T (p.Met2333Ile)
n.8870G>T
c.7188G>T (p.Met2396Ile)
c.7158G>T (p.Met2386Ile)
c.7110G>T (p.Met2370Ile)
c.7077G>T (p.Met2359Ile)
c.7047G>T (p.Met2349Ile)
c.7044G>T (p.Met2348Ile)
c.6996G>T (p.Met2332Ile)
c.6960G>T (p.Met2320Ile)
c.6957G>T (p.Met2319Ile)
c.6912G>T (p.Met2304Ile)
n.7577G>T
Xg.77508552C=CA2438929067ATRXc.7278G= (p.Met2426=)
c.2376G= (p.Met792=)
c.7164G= (p.Met2388=)
c.*6906G= (n.*6906G=)
n.5598G=
n.509G=
c.7275G= (p.Met2425=)
c.7191G= (p.Met2397=)
c.7161G= (p.Met2387=)
c.7113G= (p.Met2371=)
c.7074G= (p.Met2358=)
c.6999G= (p.Met2333=)
n.8870G=
c.7188G= (p.Met2396=)
c.7158G= (p.Met2386=)
c.7110G= (p.Met2370=)
c.7077G= (p.Met2359=)
c.7047G= (p.Met2349=)
c.7044G= (p.Met2348=)
c.6996G= (p.Met2332=)
c.6960G= (p.Met2320=)
c.6957G= (p.Met2319=)
c.6912G= (p.Met2304=)
n.7577G=
Xg.77508552C>GCA413704800ATRXc.7278G>C (p.Met2426Ile)
c.2376G>C (p.Met792Ile)
c.7164G>C (p.Met2388Ile)
c.*6906G>C (n.*6906G>C)
n.5598G>C
n.509G>C
c.7275G>C (p.Met2425Ile)
c.7191G>C (p.Met2397Ile)
c.7161G>C (p.Met2387Ile)
c.7113G>C (p.Met2371Ile)
c.7074G>C (p.Met2358Ile)
c.6999G>C (p.Met2333Ile)
n.8870G>C
c.7188G>C (p.Met2396Ile)
c.7158G>C (p.Met2386Ile)
c.7110G>C (p.Met2370Ile)
c.7077G>C (p.Met2359Ile)
c.7047G>C (p.Met2349Ile)
c.7044G>C (p.Met2348Ile)
c.6996G>C (p.Met2332Ile)
c.6960G>C (p.Met2320Ile)
c.6957G>C (p.Met2319Ile)
c.6912G>C (p.Met2304Ile)
n.7577G>C
 dbSNP
Xg.77508552C>TCA413704794ATRXc.7278G>A (p.Met2426Ile)
c.2376G>A (p.Met792Ile)
c.7164G>A (p.Met2388Ile)
c.*6906G>A (n.*6906G>A)
n.5598G>A
n.509G>A
c.7275G>A (p.Met2425Ile)
c.7191G>A (p.Met2397Ile)
c.7161G>A (p.Met2387Ile)
c.7113G>A (p.Met2371Ile)
c.7074G>A (p.Met2358Ile)
c.6999G>A (p.Met2333Ile)
n.8870G>A
c.7188G>A (p.Met2396Ile)
c.7158G>A (p.Met2386Ile)
c.7110G>A (p.Met2370Ile)
c.7077G>A (p.Met2359Ile)
c.7047G>A (p.Met2349Ile)
c.7044G>A (p.Met2348Ile)
c.6996G>A (p.Met2332Ile)
c.6960G>A (p.Met2320Ile)
c.6957G>A (p.Met2319Ile)
c.6912G>A (p.Met2304Ile)
n.7577G>A
 ClinVar dbSNP
Xg.77508553A=CA2438929068ATRXc.7277T= (p.Met2426=)
c.2375T= (p.Met792=)
c.7163T= (p.Met2388=)
c.*6905T= (n.*6905T=)
n.5597T=
n.508T=
c.7274T= (p.Met2425=)
c.7190T= (p.Met2397=)
c.7160T= (p.Met2387=)
c.7112T= (p.Met2371=)
c.7073T= (p.Met2358=)
c.6998T= (p.Met2333=)
n.8869T=
c.7187T= (p.Met2396=)
c.7157T= (p.Met2386=)
c.7109T= (p.Met2370=)
c.7076T= (p.Met2359=)
c.7046T= (p.Met2349=)
c.7043T= (p.Met2348=)
c.6995T= (p.Met2332=)
c.6959T= (p.Met2320=)
c.6956T= (p.Met2319=)
c.6911T= (p.Met2304=)
n.7576T=
Xg.77508553A>CCA413704804ATRXc.7277T>G (p.Met2426Arg)
c.2375T>G (p.Met792Arg)
c.7163T>G (p.Met2388Arg)
c.*6905T>G (n.*6905T>G)
n.5597T>G
n.508T>G
c.7274T>G (p.Met2425Arg)
c.7190T>G (p.Met2397Arg)
c.7160T>G (p.Met2387Arg)
c.7112T>G (p.Met2371Arg)
c.7073T>G (p.Met2358Arg)
c.6998T>G (p.Met2333Arg)
n.8869T>G
c.7187T>G (p.Met2396Arg)
c.7157T>G (p.Met2386Arg)
c.7109T>G (p.Met2370Arg)
c.7076T>G (p.Met2359Arg)
c.7046T>G (p.Met2349Arg)
c.7043T>G (p.Met2348Arg)
c.6995T>G (p.Met2332Arg)
c.6959T>G (p.Met2320Arg)
c.6956T>G (p.Met2319Arg)
c.6911T>G (p.Met2304Arg)
n.7576T>G
Xg.77508553A>GCA413704806ATRXc.7277T>C (p.Met2426Thr)
c.2375T>C (p.Met792Thr)
c.7163T>C (p.Met2388Thr)
c.*6905T>C (n.*6905T>C)
n.5597T>C
n.508T>C
c.7274T>C (p.Met2425Thr)
c.7190T>C (p.Met2397Thr)
c.7160T>C (p.Met2387Thr)
c.7112T>C (p.Met2371Thr)
c.7073T>C (p.Met2358Thr)
c.6998T>C (p.Met2333Thr)
n.8869T>C
c.7187T>C (p.Met2396Thr)
c.7157T>C (p.Met2386Thr)
c.7109T>C (p.Met2370Thr)
c.7076T>C (p.Met2359Thr)
c.7046T>C (p.Met2349Thr)
c.7043T>C (p.Met2348Thr)
c.6995T>C (p.Met2332Thr)
c.6959T>C (p.Met2320Thr)
c.6956T>C (p.Met2319Thr)
c.6911T>C (p.Met2304Thr)
n.7576T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.77508553A>TCA413704809ATRXc.7277T>A (p.Met2426Lys)
c.2375T>A (p.Met792Lys)
c.7163T>A (p.Met2388Lys)
c.*6905T>A (n.*6905T>A)
n.5597T>A
n.508T>A
c.7274T>A (p.Met2425Lys)
c.7190T>A (p.Met2397Lys)
c.7160T>A (p.Met2387Lys)
c.7112T>A (p.Met2371Lys)
c.7073T>A (p.Met2358Lys)
c.6998T>A (p.Met2333Lys)
n.8869T>A
c.7187T>A (p.Met2396Lys)
c.7157T>A (p.Met2386Lys)
c.7109T>A (p.Met2370Lys)
c.7076T>A (p.Met2359Lys)
c.7046T>A (p.Met2349Lys)
c.7043T>A (p.Met2348Lys)
c.6995T>A (p.Met2332Lys)
c.6959T>A (p.Met2320Lys)
c.6956T>A (p.Met2319Lys)
c.6911T>A (p.Met2304Lys)
n.7576T>A
 dbSNP
Xg.77508554T>ACA413704815ATRXc.7276A>T (p.Met2426Leu)
c.2374A>T (p.Met792Leu)
c.7162A>T (p.Met2388Leu)
c.*6904A>T (n.*6904A>T)
n.5596A>T
n.507A>T
c.7273A>T (p.Met2425Leu)
c.7189A>T (p.Met2397Leu)
c.7159A>T (p.Met2387Leu)
c.7111A>T (p.Met2371Leu)
c.7072A>T (p.Met2358Leu)
c.6997A>T (p.Met2333Leu)
n.8868A>T
c.7186A>T (p.Met2396Leu)
c.7156A>T (p.Met2386Leu)
c.7108A>T (p.Met2370Leu)
c.7075A>T (p.Met2359Leu)
c.7045A>T (p.Met2349Leu)
c.7042A>T (p.Met2348Leu)
c.6994A>T (p.Met2332Leu)
c.6958A>T (p.Met2320Leu)
c.6955A>T (p.Met2319Leu)
c.6910A>T (p.Met2304Leu)
n.7575A>T
Xg.77508554T>CCA413704817ATRXc.7276A>G (p.Met2426Val)
c.2374A>G (p.Met792Val)
c.7162A>G (p.Met2388Val)
c.*6904A>G (n.*6904A>G)
n.5596A>G
n.507A>G
c.7273A>G (p.Met2425Val)
c.7189A>G (p.Met2397Val)
c.7159A>G (p.Met2387Val)
c.7111A>G (p.Met2371Val)
c.7072A>G (p.Met2358Val)
c.6997A>G (p.Met2333Val)
n.8868A>G
c.7186A>G (p.Met2396Val)
c.7156A>G (p.Met2386Val)
c.7108A>G (p.Met2370Val)
c.7075A>G (p.Met2359Val)
c.7045A>G (p.Met2349Val)
c.7042A>G (p.Met2348Val)
c.6994A>G (p.Met2332Val)
c.6958A>G (p.Met2320Val)
c.6955A>G (p.Met2319Val)
c.6910A>G (p.Met2304Val)
n.7575A>G
 gnomAD v4
Xg.77508554T>GCA413704825ATRXc.7276A>C (p.Met2426Leu)
c.2374A>C (p.Met792Leu)
c.7162A>C (p.Met2388Leu)
c.*6904A>C (n.*6904A>C)
n.5596A>C
n.507A>C
c.7273A>C (p.Met2425Leu)
c.7189A>C (p.Met2397Leu)
c.7159A>C (p.Met2387Leu)
c.7111A>C (p.Met2371Leu)
c.7072A>C (p.Met2358Leu)
c.6997A>C (p.Met2333Leu)
n.8868A>C
c.7186A>C (p.Met2396Leu)
c.7156A>C (p.Met2386Leu)
c.7108A>C (p.Met2370Leu)
c.7075A>C (p.Met2359Leu)
c.7045A>C (p.Met2349Leu)
c.7042A>C (p.Met2348Leu)
c.6994A>C (p.Met2332Leu)
c.6958A>C (p.Met2320Leu)
c.6955A>C (p.Met2319Leu)
c.6910A>C (p.Met2304Leu)
n.7575A>C
Xg.77508555T>ACA413704828ATRXc.7275A>T (p.Gln2425His)
c.2373A>T (p.Gln791His)
c.7161A>T (p.Gln2387His)
c.*6903A>T (n.*6903A>T)
n.5595A>T
n.506A>T
c.7272A>T (p.Gln2424His)
c.7188A>T (p.Gln2396His)
c.7158A>T (p.Gln2386His)
c.7110A>T (p.Gln2370His)
c.7071A>T (p.Gln2357His)
c.6996A>T (p.Gln2332His)
n.8867A>T
c.7185A>T (p.Gln2395His)
c.7155A>T (p.Gln2385His)
c.7107A>T (p.Gln2369His)
c.7074A>T (p.Gln2358His)
c.7044A>T (p.Gln2348His)
c.7041A>T (p.Gln2347His)
c.6993A>T (p.Gln2331His)
c.6957A>T (p.Gln2319His)
c.6954A>T (p.Gln2318His)
c.6909A>T (p.Gln2303His)
n.7574A>T
Xg.77508555T>CCA517374171ATRXc.7275A>G (p.Gln2425=)
c.2373A>G (p.Gln791=)
c.7161A>G (p.Gln2387=)
c.*6903A>G (n.*6903A>G)
n.5595A>G
n.506A>G
c.7272A>G (p.Gln2424=)
c.7188A>G (p.Gln2396=)
c.7158A>G (p.Gln2386=)
c.7110A>G (p.Gln2370=)
c.7071A>G (p.Gln2357=)
c.6996A>G (p.Gln2332=)
n.8867A>G
c.7185A>G (p.Gln2395=)
c.7155A>G (p.Gln2385=)
c.7107A>G (p.Gln2369=)
c.7074A>G (p.Gln2358=)
c.7044A>G (p.Gln2348=)
c.7041A>G (p.Gln2347=)
c.6993A>G (p.Gln2331=)
c.6957A>G (p.Gln2319=)
c.6954A>G (p.Gln2318=)
c.6909A>G (p.Gln2303=)
n.7574A>G
Xg.77508555T>GCA413704831ATRXc.7275A>C (p.Gln2425His)
c.2373A>C (p.Gln791His)
c.7161A>C (p.Gln2387His)
c.*6903A>C (n.*6903A>C)
n.5595A>C
n.506A>C
c.7272A>C (p.Gln2424His)
c.7188A>C (p.Gln2396His)
c.7158A>C (p.Gln2386His)
c.7110A>C (p.Gln2370His)
c.7071A>C (p.Gln2357His)
c.6996A>C (p.Gln2332His)
n.8867A>C
c.7185A>C (p.Gln2395His)
c.7155A>C (p.Gln2385His)
c.7107A>C (p.Gln2369His)
c.7074A>C (p.Gln2358His)
c.7044A>C (p.Gln2348His)
c.7041A>C (p.Gln2347His)
c.6993A>C (p.Gln2331His)
c.6957A>C (p.Gln2319His)
c.6954A>C (p.Gln2318His)
c.6909A>C (p.Gln2303His)
n.7574A>C
Xg.77508556T>ACA413704835ATRXc.7274A>T (p.Gln2425Leu)
c.2372A>T (p.Gln791Leu)
c.7160A>T (p.Gln2387Leu)
c.*6902A>T (n.*6902A>T)
n.5594A>T
n.505A>T
c.7271A>T (p.Gln2424Leu)
c.7187A>T (p.Gln2396Leu)
c.7157A>T (p.Gln2386Leu)
c.7109A>T (p.Gln2370Leu)
c.7070A>T (p.Gln2357Leu)
c.6995A>T (p.Gln2332Leu)
n.8866A>T
c.7184A>T (p.Gln2395Leu)
c.7154A>T (p.Gln2385Leu)
c.7106A>T (p.Gln2369Leu)
c.7073A>T (p.Gln2358Leu)
c.7043A>T (p.Gln2348Leu)
c.7040A>T (p.Gln2347Leu)
c.6992A>T (p.Gln2331Leu)
c.6956A>T (p.Gln2319Leu)
c.6953A>T (p.Gln2318Leu)
c.6908A>T (p.Gln2303Leu)
n.7573A>T
Xg.77508556T>CCA413704838ATRXc.7274A>G (p.Gln2425Arg)
c.2372A>G (p.Gln791Arg)
c.7160A>G (p.Gln2387Arg)
c.*6902A>G (n.*6902A>G)
n.5594A>G
n.505A>G
c.7271A>G (p.Gln2424Arg)
c.7187A>G (p.Gln2396Arg)
c.7157A>G (p.Gln2386Arg)
c.7109A>G (p.Gln2370Arg)
c.7070A>G (p.Gln2357Arg)
c.6995A>G (p.Gln2332Arg)
n.8866A>G
c.7184A>G (p.Gln2395Arg)
c.7154A>G (p.Gln2385Arg)
c.7106A>G (p.Gln2369Arg)
c.7073A>G (p.Gln2358Arg)
c.7043A>G (p.Gln2348Arg)
c.7040A>G (p.Gln2347Arg)
c.6992A>G (p.Gln2331Arg)
c.6956A>G (p.Gln2319Arg)
c.6953A>G (p.Gln2318Arg)
c.6908A>G (p.Gln2303Arg)
n.7573A>G
Xg.77508556T>GCA413704843ATRXc.7274A>C (p.Gln2425Pro)
c.2372A>C (p.Gln791Pro)
c.7160A>C (p.Gln2387Pro)
c.*6902A>C (n.*6902A>C)
n.5594A>C
n.505A>C
c.7271A>C (p.Gln2424Pro)
c.7187A>C (p.Gln2396Pro)
c.7157A>C (p.Gln2386Pro)
c.7109A>C (p.Gln2370Pro)
c.7070A>C (p.Gln2357Pro)
c.6995A>C (p.Gln2332Pro)
n.8866A>C
c.7184A>C (p.Gln2395Pro)
c.7154A>C (p.Gln2385Pro)
c.7106A>C (p.Gln2369Pro)
c.7073A>C (p.Gln2358Pro)
c.7043A>C (p.Gln2348Pro)
c.7040A>C (p.Gln2347Pro)
c.6992A>C (p.Gln2331Pro)
c.6956A>C (p.Gln2319Pro)
c.6953A>C (p.Gln2318Pro)
c.6908A>C (p.Gln2303Pro)
n.7573A>C
Xg.77508564_77508569delCA2580612368ATRXc.7269_7274del (p.Gln2424_Gln2425del)
c.2367_2372del (p.Gln790_Gln791del)
c.7155_7160del (p.Gln2386_Gln2387del)
c.*6897_*6902del (n.*6897_*6902del)
n.5589_5594del
n.500_505del
c.7266_7271del (p.Gln2423_Gln2424del)
c.7182_7187del (p.Gln2395_Gln2396del)
c.7152_7157del (p.Gln2385_Gln2386del)
c.7104_7109del (p.Gln2369_Gln2370del)
c.7065_7070del (p.Gln2356_Gln2357del)
c.6990_6995del (p.Gln2331_Gln2332del)
n.8861_8866del
c.7179_7184del (p.Gln2394_Gln2395del)
c.7149_7154del (p.Gln2384_Gln2385del)
c.7101_7106del (p.Gln2368_Gln2369del)
c.7068_7073del (p.Gln2357_Gln2358del)
c.7038_7043del (p.Gln2347_Gln2348del)
c.7035_7040del (p.Gln2346_Gln2347del)
c.6987_6992del (p.Gln2330_Gln2331del)
c.6951_6956del (p.Gln2318_Gln2319del)
c.6948_6953del (p.Gln2317_Gln2318del)
c.6903_6908del (p.Gln2302_Gln2303del)
n.7568_7573del
 ClinVar dbSNP gnomAD v4
Xg.77508557G>ACA413704845ATRXc.7273C>T (p.Gln2425Ter)
c.2371C>T (p.Gln791Ter)
c.7159C>T (p.Gln2387Ter)
c.*6901C>T (n.*6901C>T)
n.5593C>T
n.504C>T
c.7270C>T (p.Gln2424Ter)
c.7186C>T (p.Gln2396Ter)
c.7156C>T (p.Gln2386Ter)
c.7108C>T (p.Gln2370Ter)
c.7069C>T (p.Gln2357Ter)
c.6994C>T (p.Gln2332Ter)
n.8865C>T
c.7183C>T (p.Gln2395Ter)
c.7153C>T (p.Gln2385Ter)
c.7105C>T (p.Gln2369Ter)
c.7072C>T (p.Gln2358Ter)
c.7042C>T (p.Gln2348Ter)
c.7039C>T (p.Gln2347Ter)
c.6991C>T (p.Gln2331Ter)
c.6955C>T (p.Gln2319Ter)
c.6952C>T (p.Gln2318Ter)
c.6907C>T (p.Gln2303Ter)
n.7572C>T
Xg.77508557G>CCA413704847ATRXc.7273C>G (p.Gln2425Glu)
c.2371C>G (p.Gln791Glu)
c.7159C>G (p.Gln2387Glu)
c.*6901C>G (n.*6901C>G)
n.5593C>G
n.504C>G
c.7270C>G (p.Gln2424Glu)
c.7186C>G (p.Gln2396Glu)
c.7156C>G (p.Gln2386Glu)
c.7108C>G (p.Gln2370Glu)
c.7069C>G (p.Gln2357Glu)
c.6994C>G (p.Gln2332Glu)
n.8865C>G
c.7183C>G (p.Gln2395Glu)
c.7153C>G (p.Gln2385Glu)
c.7105C>G (p.Gln2369Glu)
c.7072C>G (p.Gln2358Glu)
c.7042C>G (p.Gln2348Glu)
c.7039C>G (p.Gln2347Glu)
c.6991C>G (p.Gln2331Glu)
c.6955C>G (p.Gln2319Glu)
c.6952C>G (p.Gln2318Glu)
c.6907C>G (p.Gln2303Glu)
n.7572C>G
 dbSNP
Xg.77508557G>TCA413704851ATRXc.7273C>A (p.Gln2425Lys)
c.2371C>A (p.Gln791Lys)
c.7159C>A (p.Gln2387Lys)
c.*6901C>A (n.*6901C>A)
n.5593C>A
n.504C>A
c.7270C>A (p.Gln2424Lys)
c.7186C>A (p.Gln2396Lys)
c.7156C>A (p.Gln2386Lys)
c.7108C>A (p.Gln2370Lys)
c.7069C>A (p.Gln2357Lys)
c.6994C>A (p.Gln2332Lys)
n.8865C>A
c.7183C>A (p.Gln2395Lys)
c.7153C>A (p.Gln2385Lys)
c.7105C>A (p.Gln2369Lys)
c.7072C>A (p.Gln2358Lys)
c.7042C>A (p.Gln2348Lys)
c.7039C>A (p.Gln2347Lys)
c.6991C>A (p.Gln2331Lys)
c.6955C>A (p.Gln2319Lys)
c.6952C>A (p.Gln2318Lys)
c.6907C>A (p.Gln2303Lys)
n.7572C>A
Xg.77508558T>ACA413704854ATRXc.7272A>T (p.Gln2424His)
c.2370A>T (p.Gln790His)
c.7158A>T (p.Gln2386His)
c.*6900A>T (n.*6900A>T)
n.5592A>T
n.503A>T
c.7269A>T (p.Gln2423His)
c.7185A>T (p.Gln2395His)
c.7155A>T (p.Gln2385His)
c.7107A>T (p.Gln2369His)
c.7068A>T (p.Gln2356His)
c.6993A>T (p.Gln2331His)
n.8864A>T
c.7182A>T (p.Gln2394His)
c.7152A>T (p.Gln2384His)
c.7104A>T (p.Gln2368His)
c.7071A>T (p.Gln2357His)
c.7041A>T (p.Gln2347His)
c.7038A>T (p.Gln2346His)
c.6990A>T (p.Gln2330His)
c.6954A>T (p.Gln2318His)
c.6951A>T (p.Gln2317His)
c.6906A>T (p.Gln2302His)
n.7571A>T
Xg.77508558T>CCA517374175ATRXc.7272A>G (p.Gln2424=)
c.2370A>G (p.Gln790=)
c.7158A>G (p.Gln2386=)
c.*6900A>G (n.*6900A>G)
n.5592A>G
n.503A>G
c.7269A>G (p.Gln2423=)
c.7185A>G (p.Gln2395=)
c.7155A>G (p.Gln2385=)
c.7107A>G (p.Gln2369=)
c.7068A>G (p.Gln2356=)
c.6993A>G (p.Gln2331=)
n.8864A>G
c.7182A>G (p.Gln2394=)
c.7152A>G (p.Gln2384=)
c.7104A>G (p.Gln2368=)
c.7071A>G (p.Gln2357=)
c.7041A>G (p.Gln2347=)
c.7038A>G (p.Gln2346=)
c.6990A>G (p.Gln2330=)
c.6954A>G (p.Gln2318=)
c.6951A>G (p.Gln2317=)
c.6906A>G (p.Gln2302=)
n.7571A>G
Xg.77508558T>GCA413704857ATRXc.7272A>C (p.Gln2424His)
c.2370A>C (p.Gln790His)
c.7158A>C (p.Gln2386His)
c.*6900A>C (n.*6900A>C)
n.5592A>C
n.503A>C
c.7269A>C (p.Gln2423His)
c.7185A>C (p.Gln2395His)
c.7155A>C (p.Gln2385His)
c.7107A>C (p.Gln2369His)
c.7068A>C (p.Gln2356His)
c.6993A>C (p.Gln2331His)
n.8864A>C
c.7182A>C (p.Gln2394His)
c.7152A>C (p.Gln2384His)
c.7104A>C (p.Gln2368His)
c.7071A>C (p.Gln2357His)
c.7041A>C (p.Gln2347His)
c.7038A>C (p.Gln2346His)
c.6990A>C (p.Gln2330His)
c.6954A>C (p.Gln2318His)
c.6951A>C (p.Gln2317His)
c.6906A>C (p.Gln2302His)
n.7571A>C
Xg.77508559T>ACA413704861ATRXc.7271A>T (p.Gln2424Leu)
c.2369A>T (p.Gln790Leu)
c.7157A>T (p.Gln2386Leu)
c.*6899A>T (n.*6899A>T)
n.5591A>T
n.502A>T
c.7268A>T (p.Gln2423Leu)
c.7184A>T (p.Gln2395Leu)
c.7154A>T (p.Gln2385Leu)
c.7106A>T (p.Gln2369Leu)
c.7067A>T (p.Gln2356Leu)
c.6992A>T (p.Gln2331Leu)
n.8863A>T
c.7181A>T (p.Gln2394Leu)
c.7151A>T (p.Gln2384Leu)
c.7103A>T (p.Gln2368Leu)
c.7070A>T (p.Gln2357Leu)
c.7040A>T (p.Gln2347Leu)
c.7037A>T (p.Gln2346Leu)
c.6989A>T (p.Gln2330Leu)
c.6953A>T (p.Gln2318Leu)
c.6950A>T (p.Gln2317Leu)
c.6905A>T (p.Gln2302Leu)
n.7570A>T
Xg.77508559T>CCA413704868ATRXc.7271A>G (p.Gln2424Arg)
c.2369A>G (p.Gln790Arg)
c.7157A>G (p.Gln2386Arg)
c.*6899A>G (n.*6899A>G)
n.5591A>G
n.502A>G
c.7268A>G (p.Gln2423Arg)
c.7184A>G (p.Gln2395Arg)
c.7154A>G (p.Gln2385Arg)
c.7106A>G (p.Gln2369Arg)
c.7067A>G (p.Gln2356Arg)
c.6992A>G (p.Gln2331Arg)
n.8863A>G
c.7181A>G (p.Gln2394Arg)
c.7151A>G (p.Gln2384Arg)
c.7103A>G (p.Gln2368Arg)
c.7070A>G (p.Gln2357Arg)
c.7040A>G (p.Gln2347Arg)
c.7037A>G (p.Gln2346Arg)
c.6989A>G (p.Gln2330Arg)
c.6953A>G (p.Gln2318Arg)
c.6950A>G (p.Gln2317Arg)
c.6905A>G (p.Gln2302Arg)
n.7570A>G
Xg.77508559T>GCA413704865ATRXc.7271A>C (p.Gln2424Pro)
c.2369A>C (p.Gln790Pro)
c.7157A>C (p.Gln2386Pro)
c.*6899A>C (n.*6899A>C)
n.5591A>C
n.502A>C
c.7268A>C (p.Gln2423Pro)
c.7184A>C (p.Gln2395Pro)
c.7154A>C (p.Gln2385Pro)
c.7106A>C (p.Gln2369Pro)
c.7067A>C (p.Gln2356Pro)
c.6992A>C (p.Gln2331Pro)
n.8863A>C
c.7181A>C (p.Gln2394Pro)
c.7151A>C (p.Gln2384Pro)
c.7103A>C (p.Gln2368Pro)
c.7070A>C (p.Gln2357Pro)
c.7040A>C (p.Gln2347Pro)
c.7037A>C (p.Gln2346Pro)
c.6989A>C (p.Gln2330Pro)
c.6953A>C (p.Gln2318Pro)
c.6950A>C (p.Gln2317Pro)
c.6905A>C (p.Gln2302Pro)
n.7570A>C
Xg.77508564_77508572delCA2738724322ATRXc.7263_7271del (p.Gln2422_Gln2424del)
c.2361_2369del (p.Gln788_Gln790del)
c.7149_7157del (p.Gln2384_Gln2386del)
c.*6891_*6899del (n.*6891_*6899del)
n.5583_5591del
n.494_502del
c.7260_7268del (p.Gln2421_Gln2423del)
c.7176_7184del (p.Gln2393_Gln2395del)
c.7146_7154del (p.Gln2383_Gln2385del)
c.7098_7106del (p.Gln2367_Gln2369del)
c.7059_7067del (p.Gln2354_Gln2356del)
c.6984_6992del (p.Gln2329_Gln2331del)
n.8855_8863del
c.7173_7181del (p.Gln2392_Gln2394del)
c.7143_7151del (p.Gln2382_Gln2384del)
c.7095_7103del (p.Gln2366_Gln2368del)
c.7062_7070del (p.Gln2355_Gln2357del)
c.7032_7040del (p.Gln2345_Gln2347del)
c.7029_7037del (p.Gln2344_Gln2346del)
c.6981_6989del (p.Gln2328_Gln2330del)
c.6945_6953del (p.Gln2316_Gln2318del)
c.6942_6950del (p.Gln2315_Gln2317del)
c.6897_6905del (p.Gln2300_Gln2302del)
n.7562_7570del
 dbSNP
Xg.77508559_77508560insTCACCATAGGCCTTAAACA2738724326ATRXc.7270_7271insTTTAAGGCCTATGGTGA (p.Gln2424LeufsTer2)
c.2368_2369insTTTAAGGCCTATGGTGA (p.Gln790LeufsTer2)
c.7156_7157insTTTAAGGCCTATGGTGA (p.Gln2386LeufsTer2)
c.*6898_*6899insTTTAAGGCCTATGGTGA (n.*6898_*6899insTTTAAGGCCTATGGTGA)
n.5590_5591insTTTAAGGCCTATGGTGA
n.501_502insTTTAAGGCCTATGGTGA
c.7267_7268insTTTAAGGCCTATGGTGA (p.Gln2423LeufsTer2)
c.7183_7184insTTTAAGGCCTATGGTGA (p.Gln2395LeufsTer2)
c.7153_7154insTTTAAGGCCTATGGTGA (p.Gln2385LeufsTer2)
c.7105_7106insTTTAAGGCCTATGGTGA (p.Gln2369LeufsTer2)
c.7066_7067insTTTAAGGCCTATGGTGA (p.Gln2356LeufsTer2)
c.6991_6992insTTTAAGGCCTATGGTGA (p.Gln2331LeufsTer2)
n.8862_8863insTTTAAGGCCTATGGTGA
c.7180_7181insTTTAAGGCCTATGGTGA (p.Gln2394LeufsTer2)
c.7150_7151insTTTAAGGCCTATGGTGA (p.Gln2384LeufsTer2)
c.7102_7103insTTTAAGGCCTATGGTGA (p.Gln2368LeufsTer2)
c.7069_7070insTTTAAGGCCTATGGTGA (p.Gln2357LeufsTer2)
c.7039_7040insTTTAAGGCCTATGGTGA (p.Gln2347LeufsTer2)
c.7036_7037insTTTAAGGCCTATGGTGA (p.Gln2346LeufsTer2)
c.6988_6989insTTTAAGGCCTATGGTGA (p.Gln2330LeufsTer2)
c.6952_6953insTTTAAGGCCTATGGTGA (p.Gln2318LeufsTer2)
c.6949_6950insTTTAAGGCCTATGGTGA (p.Gln2317LeufsTer2)
c.6904_6905insTTTAAGGCCTATGGTGA (p.Gln2302LeufsTer2)
n.7569_7570insTTTAAGGCCTATGGTGA
 dbSNP
Xg.77508560G>ACA413704871ATRXc.7270C>T (p.Gln2424Ter)
c.2368C>T (p.Gln790Ter)
c.7156C>T (p.Gln2386Ter)
c.*6898C>T (n.*6898C>T)
n.5590C>T
n.501C>T
c.7267C>T (p.Gln2423Ter)
c.7183C>T (p.Gln2395Ter)
c.7153C>T (p.Gln2385Ter)
c.7105C>T (p.Gln2369Ter)
c.7066C>T (p.Gln2356Ter)
c.6991C>T (p.Gln2331Ter)
n.8862C>T
c.7180C>T (p.Gln2394Ter)
c.7150C>T (p.Gln2384Ter)
c.7102C>T (p.Gln2368Ter)
c.7069C>T (p.Gln2357Ter)
c.7039C>T (p.Gln2347Ter)
c.7036C>T (p.Gln2346Ter)
c.6988C>T (p.Gln2330Ter)
c.6952C>T (p.Gln2318Ter)
c.6949C>T (p.Gln2317Ter)
c.6904C>T (p.Gln2302Ter)
n.7569C>T
 dbSNP
Xg.77508560G>CCA413704877ATRXc.7270C>G (p.Gln2424Glu)
c.2368C>G (p.Gln790Glu)
c.7156C>G (p.Gln2386Glu)
c.*6898C>G (n.*6898C>G)
n.5590C>G
n.501C>G
c.7267C>G (p.Gln2423Glu)
c.7183C>G (p.Gln2395Glu)
c.7153C>G (p.Gln2385Glu)
c.7105C>G (p.Gln2369Glu)
c.7066C>G (p.Gln2356Glu)
c.6991C>G (p.Gln2331Glu)
n.8862C>G
c.7180C>G (p.Gln2394Glu)
c.7150C>G (p.Gln2384Glu)
c.7102C>G (p.Gln2368Glu)
c.7069C>G (p.Gln2357Glu)
c.7039C>G (p.Gln2347Glu)
c.7036C>G (p.Gln2346Glu)
c.6988C>G (p.Gln2330Glu)
c.6952C>G (p.Gln2318Glu)
c.6949C>G (p.Gln2317Glu)
c.6904C>G (p.Gln2302Glu)
n.7569C>G
 dbSNP
Xg.77508560G>TCA413704874ATRXc.7270C>A (p.Gln2424Lys)
c.2368C>A (p.Gln790Lys)
c.7156C>A (p.Gln2386Lys)
c.*6898C>A (n.*6898C>A)
n.5590C>A
n.501C>A
c.7267C>A (p.Gln2423Lys)
c.7183C>A (p.Gln2395Lys)
c.7153C>A (p.Gln2385Lys)
c.7105C>A (p.Gln2369Lys)
c.7066C>A (p.Gln2356Lys)
c.6991C>A (p.Gln2331Lys)
n.8862C>A
c.7180C>A (p.Gln2394Lys)
c.7150C>A (p.Gln2384Lys)
c.7102C>A (p.Gln2368Lys)
c.7069C>A (p.Gln2357Lys)
c.7039C>A (p.Gln2347Lys)
c.7036C>A (p.Gln2346Lys)
c.6988C>A (p.Gln2330Lys)
c.6952C>A (p.Gln2318Lys)
c.6949C>A (p.Gln2317Lys)
c.6904C>A (p.Gln2302Lys)
n.7569C>A
Xg.77508561C>ACA413704878ATRXc.7269G>T (p.Gln2423His)
c.2367G>T (p.Gln789His)
c.7155G>T (p.Gln2385His)
c.*6897G>T (n.*6897G>T)
n.5589G>T
n.500G>T
c.7266G>T (p.Gln2422His)
c.7182G>T (p.Gln2394His)
c.7152G>T (p.Gln2384His)
c.7104G>T (p.Gln2368His)
c.7065G>T (p.Gln2355His)
c.6990G>T (p.Gln2330His)
n.8861G>T
c.7179G>T (p.Gln2393His)
c.7149G>T (p.Gln2383His)
c.7101G>T (p.Gln2367His)
c.7068G>T (p.Gln2356His)
c.7038G>T (p.Gln2346His)
c.7035G>T (p.Gln2345His)
c.6987G>T (p.Gln2329His)
c.6951G>T (p.Gln2317His)
c.6948G>T (p.Gln2316His)
c.6903G>T (p.Gln2301His)
n.7568G>T
Xg.77508561C>GCA413704880ATRXc.7269G>C (p.Gln2423His)
c.2367G>C (p.Gln789His)
c.7155G>C (p.Gln2385His)
c.*6897G>C (n.*6897G>C)
n.5589G>C
n.500G>C
c.7266G>C (p.Gln2422His)
c.7182G>C (p.Gln2394His)
c.7152G>C (p.Gln2384His)
c.7104G>C (p.Gln2368His)
c.7065G>C (p.Gln2355His)
c.6990G>C (p.Gln2330His)
n.8861G>C
c.7179G>C (p.Gln2393His)
c.7149G>C (p.Gln2383His)
c.7101G>C (p.Gln2367His)
c.7068G>C (p.Gln2356His)
c.7038G>C (p.Gln2346His)
c.7035G>C (p.Gln2345His)
c.6987G>C (p.Gln2329His)
c.6951G>C (p.Gln2317His)
c.6948G>C (p.Gln2316His)
c.6903G>C (p.Gln2301His)
n.7568G>C
 dbSNP
Xg.77508561C>TCA517374178ATRXc.7269G>A (p.Gln2423=)
c.2367G>A (p.Gln789=)
c.7155G>A (p.Gln2385=)
c.*6897G>A (n.*6897G>A)
n.5589G>A
n.500G>A
c.7266G>A (p.Gln2422=)
c.7182G>A (p.Gln2394=)
c.7152G>A (p.Gln2384=)
c.7104G>A (p.Gln2368=)
c.7065G>A (p.Gln2355=)
c.6990G>A (p.Gln2330=)
n.8861G>A
c.7179G>A (p.Gln2393=)
c.7149G>A (p.Gln2383=)
c.7101G>A (p.Gln2367=)
c.7068G>A (p.Gln2356=)
c.7038G>A (p.Gln2346=)
c.7035G>A (p.Gln2345=)
c.6987G>A (p.Gln2329=)
c.6951G>A (p.Gln2317=)
c.6948G>A (p.Gln2316=)
c.6903G>A (p.Gln2301=)
n.7568G>A
 dbSNP COSMIC COSMIC
Xg.77508562T>ACA413704883ATRXc.7268A>T (p.Gln2423Leu)
c.2366A>T (p.Gln789Leu)
c.7154A>T (p.Gln2385Leu)
c.*6896A>T (n.*6896A>T)
n.5588A>T
n.499A>T
c.7265A>T (p.Gln2422Leu)
c.7181A>T (p.Gln2394Leu)
c.7151A>T (p.Gln2384Leu)
c.7103A>T (p.Gln2368Leu)
c.7064A>T (p.Gln2355Leu)
c.6989A>T (p.Gln2330Leu)
n.8860A>T
c.7178A>T (p.Gln2393Leu)
c.7148A>T (p.Gln2383Leu)
c.7100A>T (p.Gln2367Leu)
c.7067A>T (p.Gln2356Leu)
c.7037A>T (p.Gln2346Leu)
c.7034A>T (p.Gln2345Leu)
c.6986A>T (p.Gln2329Leu)
c.6950A>T (p.Gln2317Leu)
c.6947A>T (p.Gln2316Leu)
c.6902A>T (p.Gln2301Leu)
n.7567A>T
Xg.77508562T>CCA413704884ATRXc.7268A>G (p.Gln2423Arg)
c.2366A>G (p.Gln789Arg)
c.7154A>G (p.Gln2385Arg)
c.*6896A>G (n.*6896A>G)
n.5588A>G
n.499A>G
c.7265A>G (p.Gln2422Arg)
c.7181A>G (p.Gln2394Arg)
c.7151A>G (p.Gln2384Arg)
c.7103A>G (p.Gln2368Arg)
c.7064A>G (p.Gln2355Arg)
c.6989A>G (p.Gln2330Arg)
n.8860A>G
c.7178A>G (p.Gln2393Arg)
c.7148A>G (p.Gln2383Arg)
c.7100A>G (p.Gln2367Arg)
c.7067A>G (p.Gln2356Arg)
c.7037A>G (p.Gln2346Arg)
c.7034A>G (p.Gln2345Arg)
c.6986A>G (p.Gln2329Arg)
c.6950A>G (p.Gln2317Arg)
c.6947A>G (p.Gln2316Arg)
c.6902A>G (p.Gln2301Arg)
n.7567A>G
Xg.77508562T>GCA413704886ATRXc.7268A>C (p.Gln2423Pro)
c.2366A>C (p.Gln789Pro)
c.7154A>C (p.Gln2385Pro)
c.*6896A>C (n.*6896A>C)
n.5588A>C
n.499A>C
c.7265A>C (p.Gln2422Pro)
c.7181A>C (p.Gln2394Pro)
c.7151A>C (p.Gln2384Pro)
c.7103A>C (p.Gln2368Pro)
c.7064A>C (p.Gln2355Pro)
c.6989A>C (p.Gln2330Pro)
n.8860A>C
c.7178A>C (p.Gln2393Pro)
c.7148A>C (p.Gln2383Pro)
c.7100A>C (p.Gln2367Pro)
c.7067A>C (p.Gln2356Pro)
c.7037A>C (p.Gln2346Pro)
c.7034A>C (p.Gln2345Pro)
c.6986A>C (p.Gln2329Pro)
c.6950A>C (p.Gln2317Pro)
c.6947A>C (p.Gln2316Pro)
c.6902A>C (p.Gln2301Pro)
n.7567A>C
Xg.77508563G>ACA413704889ATRXc.7267C>T (p.Gln2423Ter)
c.2365C>T (p.Gln789Ter)
c.7153C>T (p.Gln2385Ter)
c.*6895C>T (n.*6895C>T)
n.5587C>T
n.498C>T
c.7264C>T (p.Gln2422Ter)
c.7180C>T (p.Gln2394Ter)
c.7150C>T (p.Gln2384Ter)
c.7102C>T (p.Gln2368Ter)
c.7063C>T (p.Gln2355Ter)
c.6988C>T (p.Gln2330Ter)
n.8859C>T
c.7177C>T (p.Gln2393Ter)
c.7147C>T (p.Gln2383Ter)
c.7099C>T (p.Gln2367Ter)
c.7066C>T (p.Gln2356Ter)
c.7036C>T (p.Gln2346Ter)
c.7033C>T (p.Gln2345Ter)
c.6985C>T (p.Gln2329Ter)
c.6949C>T (p.Gln2317Ter)
c.6946C>T (p.Gln2316Ter)
c.6901C>T (p.Gln2301Ter)
n.7566C>T
 dbSNP
Xg.77508563G>CCA413704890ATRXc.7267C>G (p.Gln2423Glu)
c.2365C>G (p.Gln789Glu)
c.7153C>G (p.Gln2385Glu)
c.*6895C>G (n.*6895C>G)
n.5587C>G
n.498C>G
c.7264C>G (p.Gln2422Glu)
c.7180C>G (p.Gln2394Glu)
c.7150C>G (p.Gln2384Glu)
c.7102C>G (p.Gln2368Glu)
c.7063C>G (p.Gln2355Glu)
c.6988C>G (p.Gln2330Glu)
n.8859C>G
c.7177C>G (p.Gln2393Glu)
c.7147C>G (p.Gln2383Glu)
c.7099C>G (p.Gln2367Glu)
c.7066C>G (p.Gln2356Glu)
c.7036C>G (p.Gln2346Glu)
c.7033C>G (p.Gln2345Glu)
c.6985C>G (p.Gln2329Glu)
c.6949C>G (p.Gln2317Glu)
c.6946C>G (p.Gln2316Glu)
c.6901C>G (p.Gln2301Glu)
n.7566C>G
Xg.77508563G>TCA413704892ATRXc.7267C>A (p.Gln2423Lys)
c.2365C>A (p.Gln789Lys)
c.7153C>A (p.Gln2385Lys)
c.*6895C>A (n.*6895C>A)
n.5587C>A
n.498C>A
c.7264C>A (p.Gln2422Lys)
c.7180C>A (p.Gln2394Lys)
c.7150C>A (p.Gln2384Lys)
c.7102C>A (p.Gln2368Lys)
c.7063C>A (p.Gln2355Lys)
c.6988C>A (p.Gln2330Lys)
n.8859C>A
c.7177C>A (p.Gln2393Lys)
c.7147C>A (p.Gln2383Lys)
c.7099C>A (p.Gln2367Lys)
c.7066C>A (p.Gln2356Lys)
c.7036C>A (p.Gln2346Lys)
c.7033C>A (p.Gln2345Lys)
c.6985C>A (p.Gln2329Lys)
c.6949C>A (p.Gln2317Lys)
c.6946C>A (p.Gln2316Lys)
c.6901C>A (p.Gln2301Lys)
n.7566C>A
Xg.77508564T>ACA413704895ATRXc.7266A>T (p.Gln2422His)
c.2364A>T (p.Gln788His)
c.7152A>T (p.Gln2384His)
c.*6894A>T (n.*6894A>T)
n.5586A>T
n.497A>T
c.7263A>T (p.Gln2421His)
c.7179A>T (p.Gln2393His)
c.7149A>T (p.Gln2383His)
c.7101A>T (p.Gln2367His)
c.7062A>T (p.Gln2354His)
c.6987A>T (p.Gln2329His)
n.8858A>T
c.7176A>T (p.Gln2392His)
c.7146A>T (p.Gln2382His)
c.7098A>T (p.Gln2366His)
c.7065A>T (p.Gln2355His)
c.7035A>T (p.Gln2345His)
c.7032A>T (p.Gln2344His)
c.6984A>T (p.Gln2328His)
c.6948A>T (p.Gln2316His)
c.6945A>T (p.Gln2315His)
c.6900A>T (p.Gln2300His)
n.7565A>T
 dbSNP
Xg.77508564T>CCA517374179ATRXc.7266A>G (p.Gln2422=)
c.2364A>G (p.Gln788=)
c.7152A>G (p.Gln2384=)
c.*6894A>G (n.*6894A>G)
n.5586A>G
n.497A>G
c.7263A>G (p.Gln2421=)
c.7179A>G (p.Gln2393=)
c.7149A>G (p.Gln2383=)
c.7101A>G (p.Gln2367=)
c.7062A>G (p.Gln2354=)
c.6987A>G (p.Gln2329=)
n.8858A>G
c.7176A>G (p.Gln2392=)
c.7146A>G (p.Gln2382=)
c.7098A>G (p.Gln2366=)
c.7065A>G (p.Gln2355=)
c.7035A>G (p.Gln2345=)
c.7032A>G (p.Gln2344=)
c.6984A>G (p.Gln2328=)
c.6948A>G (p.Gln2316=)
c.6945A>G (p.Gln2315=)
c.6900A>G (p.Gln2300=)
n.7565A>G
 ClinVar dbSNP
Xg.77508564T>GCA413704896ATRXc.7266A>C (p.Gln2422His)
c.2364A>C (p.Gln788His)
c.7152A>C (p.Gln2384His)
c.*6894A>C (n.*6894A>C)
n.5586A>C
n.497A>C
c.7263A>C (p.Gln2421His)
c.7179A>C (p.Gln2393His)
c.7149A>C (p.Gln2383His)
c.7101A>C (p.Gln2367His)
c.7062A>C (p.Gln2354His)
c.6987A>C (p.Gln2329His)
n.8858A>C
c.7176A>C (p.Gln2392His)
c.7146A>C (p.Gln2382His)
c.7098A>C (p.Gln2366His)
c.7065A>C (p.Gln2355His)
c.7035A>C (p.Gln2345His)
c.7032A>C (p.Gln2344His)
c.6984A>C (p.Gln2328His)
c.6948A>C (p.Gln2316His)
c.6945A>C (p.Gln2315His)
c.6900A>C (p.Gln2300His)
n.7565A>C
Xg.77508565T>ACA413704903ATRXc.7265A>T (p.Gln2422Leu)
c.2363A>T (p.Gln788Leu)
c.7151A>T (p.Gln2384Leu)
c.*6893A>T (n.*6893A>T)
n.5585A>T
n.496A>T
c.7262A>T (p.Gln2421Leu)
c.7178A>T (p.Gln2393Leu)
c.7148A>T (p.Gln2383Leu)
c.7100A>T (p.Gln2367Leu)
c.7061A>T (p.Gln2354Leu)
c.6986A>T (p.Gln2329Leu)
n.8857A>T
c.7175A>T (p.Gln2392Leu)
c.7145A>T (p.Gln2382Leu)
c.7097A>T (p.Gln2366Leu)
c.7064A>T (p.Gln2355Leu)
c.7034A>T (p.Gln2345Leu)
c.7031A>T (p.Gln2344Leu)
c.6983A>T (p.Gln2328Leu)
c.6947A>T (p.Gln2316Leu)
c.6944A>T (p.Gln2315Leu)
c.6899A>T (p.Gln2300Leu)
n.7564A>T
Xg.77508565T>CCA413704901ATRXc.7265A>G (p.Gln2422Arg)
c.2363A>G (p.Gln788Arg)
c.7151A>G (p.Gln2384Arg)
c.*6893A>G (n.*6893A>G)
n.5585A>G
n.496A>G
c.7262A>G (p.Gln2421Arg)
c.7178A>G (p.Gln2393Arg)
c.7148A>G (p.Gln2383Arg)
c.7100A>G (p.Gln2367Arg)
c.7061A>G (p.Gln2354Arg)
c.6986A>G (p.Gln2329Arg)
n.8857A>G
c.7175A>G (p.Gln2392Arg)
c.7145A>G (p.Gln2382Arg)
c.7097A>G (p.Gln2366Arg)
c.7064A>G (p.Gln2355Arg)
c.7034A>G (p.Gln2345Arg)
c.7031A>G (p.Gln2344Arg)
c.6983A>G (p.Gln2328Arg)
c.6947A>G (p.Gln2316Arg)
c.6944A>G (p.Gln2315Arg)
c.6899A>G (p.Gln2300Arg)
n.7564A>G
Xg.77508565T>GCA413704900ATRXc.7265A>C (p.Gln2422Pro)
c.2363A>C (p.Gln788Pro)
c.7151A>C (p.Gln2384Pro)
c.*6893A>C (n.*6893A>C)
n.5585A>C
n.496A>C
c.7262A>C (p.Gln2421Pro)
c.7178A>C (p.Gln2393Pro)
c.7148A>C (p.Gln2383Pro)
c.7100A>C (p.Gln2367Pro)
c.7061A>C (p.Gln2354Pro)
c.6986A>C (p.Gln2329Pro)
n.8857A>C
c.7175A>C (p.Gln2392Pro)
c.7145A>C (p.Gln2382Pro)
c.7097A>C (p.Gln2366Pro)
c.7064A>C (p.Gln2355Pro)
c.7034A>C (p.Gln2345Pro)
c.7031A>C (p.Gln2344Pro)
c.6983A>C (p.Gln2328Pro)
c.6947A>C (p.Gln2316Pro)
c.6944A>C (p.Gln2315Pro)
c.6899A>C (p.Gln2300Pro)
n.7564A>C
Xg.77508570_77508572delCA2580612369ATRXc.7263_7265del (p.Gln2422del)
c.2361_2363del (p.Gln788del)
c.7149_7151del (p.Gln2384del)
c.*6891_*6893del (n.*6891_*6893del)
n.5583_5585del
n.494_496del
c.7260_7262del (p.Gln2421del)
c.7176_7178del (p.Gln2393del)
c.7146_7148del (p.Gln2383del)
c.7098_7100del (p.Gln2367del)
c.7059_7061del (p.Gln2354del)
c.6984_6986del (p.Gln2329del)
n.8855_8857del
c.7173_7175del (p.Gln2392del)
c.7143_7145del (p.Gln2382del)
c.7095_7097del (p.Gln2366del)
c.7062_7064del (p.Gln2355del)
c.7032_7034del (p.Gln2345del)
c.7029_7031del (p.Gln2344del)
c.6981_6983del (p.Gln2328del)
c.6945_6947del (p.Gln2316del)
c.6942_6944del (p.Gln2315del)
c.6897_6899del (p.Gln2300del)
n.7562_7564del
 ClinVar dbSNP
Xg.77508565_77508566insACA2695234705ATRXc.7264_7265insT (p.Gln2422LeufsTer29)
c.2362_2363insT (p.Gln788LeufsTer29)
c.7150_7151insT (p.Gln2384LeufsTer29)
c.*6892_*6893insT (n.*6892_*6893insT)
n.5584_5585insT
n.495_496insT
c.7261_7262insT (p.Gln2421LeufsTer29)
c.7177_7178insT (p.Gln2393LeufsTer29)
c.7147_7148insT (p.Gln2383LeufsTer29)
c.7099_7100insT (p.Gln2367LeufsTer29)
c.7060_7061insT (p.Gln2354LeufsTer29)
c.6985_6986insT (p.Gln2329LeufsTer29)
n.8856_8857insT
c.7174_7175insT (p.Gln2392LeufsTer29)
c.7144_7145insT (p.Gln2382LeufsTer29)
c.7096_7097insT (p.Gln2366LeufsTer29)
c.7063_7064insT (p.Gln2355LeufsTer29)
c.7033_7034insT (p.Gln2345LeufsTer29)
c.7030_7031insT (p.Gln2344LeufsTer29)
c.6982_6983insT (p.Gln2328LeufsTer29)
c.6946_6947insT (p.Gln2316LeufsTer29)
c.6943_6944insT (p.Gln2315LeufsTer29)
c.6898_6899insT (p.Gln2300LeufsTer29)
n.7563_7564insT
Xg.77508566G>ACA413704905ATRXc.7264C>T (p.Gln2422Ter)
c.2362C>T (p.Gln788Ter)
c.7150C>T (p.Gln2384Ter)
c.*6892C>T (n.*6892C>T)
n.5584C>T
n.495C>T
c.7261C>T (p.Gln2421Ter)
c.7177C>T (p.Gln2393Ter)
c.7147C>T (p.Gln2383Ter)
c.7099C>T (p.Gln2367Ter)
c.7060C>T (p.Gln2354Ter)
c.6985C>T (p.Gln2329Ter)
n.8856C>T
c.7174C>T (p.Gln2392Ter)
c.7144C>T (p.Gln2382Ter)
c.7096C>T (p.Gln2366Ter)
c.7063C>T (p.Gln2355Ter)
c.7033C>T (p.Gln2345Ter)
c.7030C>T (p.Gln2344Ter)
c.6982C>T (p.Gln2328Ter)
c.6946C>T (p.Gln2316Ter)
c.6943C>T (p.Gln2315Ter)
c.6898C>T (p.Gln2300Ter)
n.7563C>T
Xg.77508566G>CCA413704907ATRXc.7264C>G (p.Gln2422Glu)
c.2362C>G (p.Gln788Glu)
c.7150C>G (p.Gln2384Glu)
c.*6892C>G (n.*6892C>G)
n.5584C>G
n.495C>G
c.7261C>G (p.Gln2421Glu)
c.7177C>G (p.Gln2393Glu)
c.7147C>G (p.Gln2383Glu)
c.7099C>G (p.Gln2367Glu)
c.7060C>G (p.Gln2354Glu)
c.6985C>G (p.Gln2329Glu)
n.8856C>G
c.7174C>G (p.Gln2392Glu)
c.7144C>G (p.Gln2382Glu)
c.7096C>G (p.Gln2366Glu)
c.7063C>G (p.Gln2355Glu)
c.7033C>G (p.Gln2345Glu)
c.7030C>G (p.Gln2344Glu)
c.6982C>G (p.Gln2328Glu)
c.6946C>G (p.Gln2316Glu)
c.6943C>G (p.Gln2315Glu)
c.6898C>G (p.Gln2300Glu)
n.7563C>G
 dbSNP
Xg.77508566G>TCA413704909ATRXc.7264C>A (p.Gln2422Lys)
c.2362C>A (p.Gln788Lys)
c.7150C>A (p.Gln2384Lys)
c.*6892C>A (n.*6892C>A)
n.5584C>A
n.495C>A
c.7261C>A (p.Gln2421Lys)
c.7177C>A (p.Gln2393Lys)
c.7147C>A (p.Gln2383Lys)
c.7099C>A (p.Gln2367Lys)
c.7060C>A (p.Gln2354Lys)
c.6985C>A (p.Gln2329Lys)
n.8856C>A
c.7174C>A (p.Gln2392Lys)
c.7144C>A (p.Gln2382Lys)
c.7096C>A (p.Gln2366Lys)
c.7063C>A (p.Gln2355Lys)
c.7033C>A (p.Gln2345Lys)
c.7030C>A (p.Gln2344Lys)
c.6982C>A (p.Gln2328Lys)
c.6946C>A (p.Gln2316Lys)
c.6943C>A (p.Gln2315Lys)
c.6898C>A (p.Gln2300Lys)
n.7563C>A
Xg.77508567C>ACA413704911ATRXc.7263G>T (p.Gln2421His)
c.2361G>T (p.Gln787His)
c.7149G>T (p.Gln2383His)
c.*6891G>T (n.*6891G>T)
n.5583G>T
n.494G>T
c.7260G>T (p.Gln2420His)
c.7176G>T (p.Gln2392His)
c.7146G>T (p.Gln2382His)
c.7098G>T (p.Gln2366His)
c.7059G>T (p.Gln2353His)
c.6984G>T (p.Gln2328His)
n.8855G>T
c.7173G>T (p.Gln2391His)
c.7143G>T (p.Gln2381His)
c.7095G>T (p.Gln2365His)
c.7062G>T (p.Gln2354His)
c.7032G>T (p.Gln2344His)
c.7029G>T (p.Gln2343His)
c.6981G>T (p.Gln2327His)
c.6945G>T (p.Gln2315His)
c.6942G>T (p.Gln2314His)
c.6897G>T (p.Gln2299His)
n.7562G>T
Xg.77508567C>GCA413704913ATRXc.7263G>C (p.Gln2421His)
c.2361G>C (p.Gln787His)
c.7149G>C (p.Gln2383His)
c.*6891G>C (n.*6891G>C)
n.5583G>C
n.494G>C
c.7260G>C (p.Gln2420His)
c.7176G>C (p.Gln2392His)
c.7146G>C (p.Gln2382His)
c.7098G>C (p.Gln2366His)
c.7059G>C (p.Gln2353His)
c.6984G>C (p.Gln2328His)
n.8855G>C
c.7173G>C (p.Gln2391His)
c.7143G>C (p.Gln2381His)
c.7095G>C (p.Gln2365His)
c.7062G>C (p.Gln2354His)
c.7032G>C (p.Gln2344His)
c.7029G>C (p.Gln2343His)
c.6981G>C (p.Gln2327His)
c.6945G>C (p.Gln2315His)
c.6942G>C (p.Gln2314His)
c.6897G>C (p.Gln2299His)
n.7562G>C
 dbSNP
Xg.77508567C>TCA517374180ATRXc.7263G>A (p.Gln2421=)
c.2361G>A (p.Gln787=)
c.7149G>A (p.Gln2383=)
c.*6891G>A (n.*6891G>A)
n.5583G>A
n.494G>A
c.7260G>A (p.Gln2420=)
c.7176G>A (p.Gln2392=)
c.7146G>A (p.Gln2382=)
c.7098G>A (p.Gln2366=)
c.7059G>A (p.Gln2353=)
c.6984G>A (p.Gln2328=)
n.8855G>A
c.7173G>A (p.Gln2391=)
c.7143G>A (p.Gln2381=)
c.7095G>A (p.Gln2365=)
c.7062G>A (p.Gln2354=)
c.7032G>A (p.Gln2344=)
c.7029G>A (p.Gln2343=)
c.6981G>A (p.Gln2327=)
c.6945G>A (p.Gln2315=)
c.6942G>A (p.Gln2314=)
c.6897G>A (p.Gln2299=)
n.7562G>A
 dbSNP
Xg.77508568T>ACA413704916ATRXc.7262A>T (p.Gln2421Leu)
c.2360A>T (p.Gln787Leu)
c.7148A>T (p.Gln2383Leu)
c.*6890A>T (n.*6890A>T)
n.5582A>T
n.493A>T
c.7259A>T (p.Gln2420Leu)
c.7175A>T (p.Gln2392Leu)
c.7145A>T (p.Gln2382Leu)
c.7097A>T (p.Gln2366Leu)
c.7058A>T (p.Gln2353Leu)
c.6983A>T (p.Gln2328Leu)
n.8854A>T
c.7172A>T (p.Gln2391Leu)
c.7142A>T (p.Gln2381Leu)
c.7094A>T (p.Gln2365Leu)
c.7061A>T (p.Gln2354Leu)
c.7031A>T (p.Gln2344Leu)
c.7028A>T (p.Gln2343Leu)
c.6980A>T (p.Gln2327Leu)
c.6944A>T (p.Gln2315Leu)
c.6941A>T (p.Gln2314Leu)
c.6896A>T (p.Gln2299Leu)
n.7561A>T
Xg.77508568T>CCA413704919ATRXc.7262A>G (p.Gln2421Arg)
c.2360A>G (p.Gln787Arg)
c.7148A>G (p.Gln2383Arg)
c.*6890A>G (n.*6890A>G)
n.5582A>G
n.493A>G
c.7259A>G (p.Gln2420Arg)
c.7175A>G (p.Gln2392Arg)
c.7145A>G (p.Gln2382Arg)
c.7097A>G (p.Gln2366Arg)
c.7058A>G (p.Gln2353Arg)
c.6983A>G (p.Gln2328Arg)
n.8854A>G
c.7172A>G (p.Gln2391Arg)
c.7142A>G (p.Gln2381Arg)
c.7094A>G (p.Gln2365Arg)
c.7061A>G (p.Gln2354Arg)
c.7031A>G (p.Gln2344Arg)
c.7028A>G (p.Gln2343Arg)
c.6980A>G (p.Gln2327Arg)
c.6944A>G (p.Gln2315Arg)
c.6941A>G (p.Gln2314Arg)
c.6896A>G (p.Gln2299Arg)
n.7561A>G
Xg.77508568T>GCA413704921ATRXc.7262A>C (p.Gln2421Pro)
c.2360A>C (p.Gln787Pro)
c.7148A>C (p.Gln2383Pro)
c.*6890A>C (n.*6890A>C)
n.5582A>C
n.493A>C
c.7259A>C (p.Gln2420Pro)
c.7175A>C (p.Gln2392Pro)
c.7145A>C (p.Gln2382Pro)
c.7097A>C (p.Gln2366Pro)
c.7058A>C (p.Gln2353Pro)
c.6983A>C (p.Gln2328Pro)
n.8854A>C
c.7172A>C (p.Gln2391Pro)
c.7142A>C (p.Gln2381Pro)
c.7094A>C (p.Gln2365Pro)
c.7061A>C (p.Gln2354Pro)
c.7031A>C (p.Gln2344Pro)
c.7028A>C (p.Gln2343Pro)
c.6980A>C (p.Gln2327Pro)
c.6944A>C (p.Gln2315Pro)
c.6941A>C (p.Gln2314Pro)
c.6896A>C (p.Gln2299Pro)
n.7561A>C
Xg.77508569G>ACA413704926ATRXc.7261C>T (p.Gln2421Ter)
c.2359C>T (p.Gln787Ter)
c.7147C>T (p.Gln2383Ter)
c.*6889C>T (n.*6889C>T)
n.5581C>T
n.492C>T
c.7258C>T (p.Gln2420Ter)
c.7174C>T (p.Gln2392Ter)
c.7144C>T (p.Gln2382Ter)
c.7096C>T (p.Gln2366Ter)
c.7057C>T (p.Gln2353Ter)
c.6982C>T (p.Gln2328Ter)
n.8853C>T
c.7171C>T (p.Gln2391Ter)
c.7141C>T (p.Gln2381Ter)
c.7093C>T (p.Gln2365Ter)
c.7060C>T (p.Gln2354Ter)
c.7030C>T (p.Gln2344Ter)
c.7027C>T (p.Gln2343Ter)
c.6979C>T (p.Gln2327Ter)
c.6943C>T (p.Gln2315Ter)
c.6940C>T (p.Gln2314Ter)
c.6895C>T (p.Gln2299Ter)
n.7560C>T
 dbSNP
Xg.77508569G>CCA413704928ATRXc.7261C>G (p.Gln2421Glu)
c.2359C>G (p.Gln787Glu)
c.7147C>G (p.Gln2383Glu)
c.*6889C>G (n.*6889C>G)
n.5581C>G
n.492C>G
c.7258C>G (p.Gln2420Glu)
c.7174C>G (p.Gln2392Glu)
c.7144C>G (p.Gln2382Glu)
c.7096C>G (p.Gln2366Glu)
c.7057C>G (p.Gln2353Glu)
c.6982C>G (p.Gln2328Glu)
n.8853C>G
c.7171C>G (p.Gln2391Glu)
c.7141C>G (p.Gln2381Glu)
c.7093C>G (p.Gln2365Glu)
c.7060C>G (p.Gln2354Glu)
c.7030C>G (p.Gln2344Glu)
c.7027C>G (p.Gln2343Glu)
c.6979C>G (p.Gln2327Glu)
c.6943C>G (p.Gln2315Glu)
c.6940C>G (p.Gln2314Glu)
c.6895C>G (p.Gln2299Glu)
n.7560C>G
 dbSNP
Xg.77508569G>TCA413704932ATRXc.7261C>A (p.Gln2421Lys)
c.2359C>A (p.Gln787Lys)
c.7147C>A (p.Gln2383Lys)
c.*6889C>A (n.*6889C>A)
n.5581C>A
n.492C>A
c.7258C>A (p.Gln2420Lys)
c.7174C>A (p.Gln2392Lys)
c.7144C>A (p.Gln2382Lys)
c.7096C>A (p.Gln2366Lys)
c.7057C>A (p.Gln2353Lys)
c.6982C>A (p.Gln2328Lys)
n.8853C>A
c.7171C>A (p.Gln2391Lys)
c.7141C>A (p.Gln2381Lys)
c.7093C>A (p.Gln2365Lys)
c.7060C>A (p.Gln2354Lys)
c.7030C>A (p.Gln2344Lys)
c.7027C>A (p.Gln2343Lys)
c.6979C>A (p.Gln2327Lys)
c.6943C>A (p.Gln2315Lys)
c.6940C>A (p.Gln2314Lys)
c.6895C>A (p.Gln2299Lys)
n.7560C>A
 dbSNP
Xg.77508570C>ACA413704939ATRXc.7260G>T (p.Gln2420His)
c.2358G>T (p.Gln786His)
c.7146G>T (p.Gln2382His)
c.*6888G>T (n.*6888G>T)
n.5580G>T
n.491G>T
c.7257G>T (p.Gln2419His)
c.7173G>T (p.Gln2391His)
c.7143G>T (p.Gln2381His)
c.7095G>T (p.Gln2365His)
c.7056G>T (p.Gln2352His)
c.6981G>T (p.Gln2327His)
n.8852G>T
c.7170G>T (p.Gln2390His)
c.7140G>T (p.Gln2380His)
c.7092G>T (p.Gln2364His)
c.7059G>T (p.Gln2353His)
c.7029G>T (p.Gln2343His)
c.7026G>T (p.Gln2342His)
c.6978G>T (p.Gln2326His)
c.6942G>T (p.Gln2314His)
c.6939G>T (p.Gln2313His)
c.6894G>T (p.Gln2298His)
n.7559G>T
 dbSNP
Xg.77508570C>GCA413704936ATRXc.7260G>C (p.Gln2420His)
c.2358G>C (p.Gln786His)
c.7146G>C (p.Gln2382His)
c.*6888G>C (n.*6888G>C)
n.5580G>C
n.491G>C
c.7257G>C (p.Gln2419His)
c.7173G>C (p.Gln2391His)
c.7143G>C (p.Gln2381His)
c.7095G>C (p.Gln2365His)
c.7056G>C (p.Gln2352His)
c.6981G>C (p.Gln2327His)
n.8852G>C
c.7170G>C (p.Gln2390His)
c.7140G>C (p.Gln2380His)
c.7092G>C (p.Gln2364His)
c.7059G>C (p.Gln2353His)
c.7029G>C (p.Gln2343His)
c.7026G>C (p.Gln2342His)
c.6978G>C (p.Gln2326His)
c.6942G>C (p.Gln2314His)
c.6939G>C (p.Gln2313His)
c.6894G>C (p.Gln2298His)
n.7559G>C
 dbSNP
Xg.77508570C>TCA517374181ATRXc.7260G>A (p.Gln2420=)
c.2358G>A (p.Gln786=)
c.7146G>A (p.Gln2382=)
c.*6888G>A (n.*6888G>A)
n.5580G>A
n.491G>A
c.7257G>A (p.Gln2419=)
c.7173G>A (p.Gln2391=)
c.7143G>A (p.Gln2381=)
c.7095G>A (p.Gln2365=)
c.7056G>A (p.Gln2352=)
c.6981G>A (p.Gln2327=)
n.8852G>A
c.7170G>A (p.Gln2390=)
c.7140G>A (p.Gln2380=)
c.7092G>A (p.Gln2364=)
c.7059G>A (p.Gln2353=)
c.7029G>A (p.Gln2343=)
c.7026G>A (p.Gln2342=)
c.6978G>A (p.Gln2326=)
c.6942G>A (p.Gln2314=)
c.6939G>A (p.Gln2313=)
c.6894G>A (p.Gln2298=)
n.7559G>A
 dbSNP
Xg.77508571T>ACA413704947ATRXc.7259A>T (p.Gln2420Leu)
c.2357A>T (p.Gln786Leu)
c.7145A>T (p.Gln2382Leu)
c.*6887A>T (n.*6887A>T)
n.5579A>T
n.490A>T
c.7256A>T (p.Gln2419Leu)
c.7172A>T (p.Gln2391Leu)
c.7142A>T (p.Gln2381Leu)
c.7094A>T (p.Gln2365Leu)
c.7055A>T (p.Gln2352Leu)
c.6980A>T (p.Gln2327Leu)
n.8851A>T
c.7169A>T (p.Gln2390Leu)
c.7139A>T (p.Gln2380Leu)
c.7091A>T (p.Gln2364Leu)
c.7058A>T (p.Gln2353Leu)
c.7028A>T (p.Gln2343Leu)
c.7025A>T (p.Gln2342Leu)
c.6977A>T (p.Gln2326Leu)
c.6941A>T (p.Gln2314Leu)
c.6938A>T (p.Gln2313Leu)
c.6893A>T (p.Gln2298Leu)
n.7558A>T
Xg.77508571T>CCA413704950ATRXc.7259A>G (p.Gln2420Arg)
c.2357A>G (p.Gln786Arg)
c.7145A>G (p.Gln2382Arg)
c.*6887A>G (n.*6887A>G)
n.5579A>G
n.490A>G
c.7256A>G (p.Gln2419Arg)
c.7172A>G (p.Gln2391Arg)
c.7142A>G (p.Gln2381Arg)
c.7094A>G (p.Gln2365Arg)
c.7055A>G (p.Gln2352Arg)
c.6980A>G (p.Gln2327Arg)
n.8851A>G
c.7169A>G (p.Gln2390Arg)
c.7139A>G (p.Gln2380Arg)
c.7091A>G (p.Gln2364Arg)
c.7058A>G (p.Gln2353Arg)
c.7028A>G (p.Gln2343Arg)
c.7025A>G (p.Gln2342Arg)
c.6977A>G (p.Gln2326Arg)
c.6941A>G (p.Gln2314Arg)
c.6938A>G (p.Gln2313Arg)
c.6893A>G (p.Gln2298Arg)
n.7558A>G
Xg.77508571T>GCA413704953ATRXc.7259A>C (p.Gln2420Pro)
c.2357A>C (p.Gln786Pro)
c.7145A>C (p.Gln2382Pro)
c.*6887A>C (n.*6887A>C)
n.5579A>C
n.490A>C
c.7256A>C (p.Gln2419Pro)
c.7172A>C (p.Gln2391Pro)
c.7142A>C (p.Gln2381Pro)
c.7094A>C (p.Gln2365Pro)
c.7055A>C (p.Gln2352Pro)
c.6980A>C (p.Gln2327Pro)
n.8851A>C
c.7169A>C (p.Gln2390Pro)
c.7139A>C (p.Gln2380Pro)
c.7091A>C (p.Gln2364Pro)
c.7058A>C (p.Gln2353Pro)
c.7028A>C (p.Gln2343Pro)
c.7025A>C (p.Gln2342Pro)
c.6977A>C (p.Gln2326Pro)
c.6941A>C (p.Gln2314Pro)
c.6938A>C (p.Gln2313Pro)
c.6893A>C (p.Gln2298Pro)
n.7558A>C
Xg.77508572G>ACA413704957ATRXc.7258C>T (p.Gln2420Ter)
c.2356C>T (p.Gln786Ter)
c.7144C>T (p.Gln2382Ter)
c.*6886C>T (n.*6886C>T)
n.5578C>T
n.489C>T
c.7255C>T (p.Gln2419Ter)
c.7171C>T (p.Gln2391Ter)
c.7141C>T (p.Gln2381Ter)
c.7093C>T (p.Gln2365Ter)
c.7054C>T (p.Gln2352Ter)
c.6979C>T (p.Gln2327Ter)
n.8850C>T
c.7168C>T (p.Gln2390Ter)
c.7138C>T (p.Gln2380Ter)
c.7090C>T (p.Gln2364Ter)
c.7057C>T (p.Gln2353Ter)
c.7027C>T (p.Gln2343Ter)
c.7024C>T (p.Gln2342Ter)
c.6976C>T (p.Gln2326Ter)
c.6940C>T (p.Gln2314Ter)
c.6937C>T (p.Gln2313Ter)
c.6892C>T (p.Gln2298Ter)
n.7557C>T
 dbSNP
Xg.77508572G>CCA413704959ATRXc.7258C>G (p.Gln2420Glu)
c.2356C>G (p.Gln786Glu)
c.7144C>G (p.Gln2382Glu)
c.*6886C>G (n.*6886C>G)
n.5578C>G
n.489C>G
c.7255C>G (p.Gln2419Glu)
c.7171C>G (p.Gln2391Glu)
c.7141C>G (p.Gln2381Glu)
c.7093C>G (p.Gln2365Glu)
c.7054C>G (p.Gln2352Glu)
c.6979C>G (p.Gln2327Glu)
n.8850C>G
c.7168C>G (p.Gln2390Glu)
c.7138C>G (p.Gln2380Glu)
c.7090C>G (p.Gln2364Glu)
c.7057C>G (p.Gln2353Glu)
c.7027C>G (p.Gln2343Glu)
c.7024C>G (p.Gln2342Glu)
c.6976C>G (p.Gln2326Glu)
c.6940C>G (p.Gln2314Glu)
c.6937C>G (p.Gln2313Glu)
c.6892C>G (p.Gln2298Glu)
n.7557C>G
Xg.77508572G>TCA413704963ATRXc.7258C>A (p.Gln2420Lys)
c.2356C>A (p.Gln786Lys)
c.7144C>A (p.Gln2382Lys)
c.*6886C>A (n.*6886C>A)
n.5578C>A
n.489C>A
c.7255C>A (p.Gln2419Lys)
c.7171C>A (p.Gln2391Lys)
c.7141C>A (p.Gln2381Lys)
c.7093C>A (p.Gln2365Lys)
c.7054C>A (p.Gln2352Lys)
c.6979C>A (p.Gln2327Lys)
n.8850C>A
c.7168C>A (p.Gln2390Lys)
c.7138C>A (p.Gln2380Lys)
c.7090C>A (p.Gln2364Lys)
c.7057C>A (p.Gln2353Lys)
c.7027C>A (p.Gln2343Lys)
c.7024C>A (p.Gln2342Lys)
c.6976C>A (p.Gln2326Lys)
c.6940C>A (p.Gln2314Lys)
c.6937C>A (p.Gln2313Lys)
c.6892C>A (p.Gln2298Lys)
n.7557C>A

Number of alleles fetched