Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77508354C>ACA413703339ATRXc.7476G>T (p.Met2492Ile)
c.2574G>T (p.Met858Ile)
c.7362G>T (p.Met2454Ile)
c.*7104G>T (n.*7104G>T)
n.5796G>T
c.7473G>T (p.Met2491Ile)
c.7389G>T (p.Met2463Ile)
c.7359G>T (p.Met2453Ile)
c.7311G>T (p.Met2437Ile)
c.7272G>T (p.Met2424Ile)
c.7197G>T (p.Met2399Ile)
n.9068G>T
c.7386G>T (p.Met2462Ile)
c.7356G>T (p.Met2452Ile)
c.7308G>T (p.Met2436Ile)
c.7275G>T (p.Met2425Ile)
c.7245G>T (p.Met2415Ile)
c.7242G>T (p.Met2414Ile)
c.7194G>T (p.Met2398Ile)
c.7158G>T (p.Met2386Ile)
c.7155G>T (p.Met2385Ile)
c.7110G>T (p.Met2370Ile)
n.7775G>T
Xg.77508354C>GCA413703340ATRXc.7476G>C (p.Met2492Ile)
c.2574G>C (p.Met858Ile)
c.7362G>C (p.Met2454Ile)
c.*7104G>C (n.*7104G>C)
n.5796G>C
c.7473G>C (p.Met2491Ile)
c.7389G>C (p.Met2463Ile)
c.7359G>C (p.Met2453Ile)
c.7311G>C (p.Met2437Ile)
c.7272G>C (p.Met2424Ile)
c.7197G>C (p.Met2399Ile)
n.9068G>C
c.7386G>C (p.Met2462Ile)
c.7356G>C (p.Met2452Ile)
c.7308G>C (p.Met2436Ile)
c.7275G>C (p.Met2425Ile)
c.7245G>C (p.Met2415Ile)
c.7242G>C (p.Met2414Ile)
c.7194G>C (p.Met2398Ile)
c.7158G>C (p.Met2386Ile)
c.7155G>C (p.Met2385Ile)
c.7110G>C (p.Met2370Ile)
n.7775G>C
Xg.77508354C>TCA413703344ATRXc.7476G>A (p.Met2492Ile)
c.2574G>A (p.Met858Ile)
c.7362G>A (p.Met2454Ile)
c.*7104G>A (n.*7104G>A)
n.5796G>A
c.7473G>A (p.Met2491Ile)
c.7389G>A (p.Met2463Ile)
c.7359G>A (p.Met2453Ile)
c.7311G>A (p.Met2437Ile)
c.7272G>A (p.Met2424Ile)
c.7197G>A (p.Met2399Ile)
n.9068G>A
c.7386G>A (p.Met2462Ile)
c.7356G>A (p.Met2452Ile)
c.7308G>A (p.Met2436Ile)
c.7275G>A (p.Met2425Ile)
c.7245G>A (p.Met2415Ile)
c.7242G>A (p.Met2414Ile)
c.7194G>A (p.Met2398Ile)
c.7158G>A (p.Met2386Ile)
c.7155G>A (p.Met2385Ile)
c.7110G>A (p.Met2370Ile)
n.7775G>A
Xg.77508355A>CCA413703351ATRXc.7475T>G (p.Met2492Arg)
c.2573T>G (p.Met858Arg)
c.7361T>G (p.Met2454Arg)
c.*7103T>G (n.*7103T>G)
n.5795T>G
c.7472T>G (p.Met2491Arg)
c.7388T>G (p.Met2463Arg)
c.7358T>G (p.Met2453Arg)
c.7310T>G (p.Met2437Arg)
c.7271T>G (p.Met2424Arg)
c.7196T>G (p.Met2399Arg)
n.9067T>G
c.7385T>G (p.Met2462Arg)
c.7355T>G (p.Met2452Arg)
c.7307T>G (p.Met2436Arg)
c.7274T>G (p.Met2425Arg)
c.7244T>G (p.Met2415Arg)
c.7241T>G (p.Met2414Arg)
c.7193T>G (p.Met2398Arg)
c.7157T>G (p.Met2386Arg)
c.7154T>G (p.Met2385Arg)
c.7109T>G (p.Met2370Arg)
n.7774T>G
Xg.77508355A>GCA413703354ATRXc.7475T>C (p.Met2492Thr)
c.2573T>C (p.Met858Thr)
c.7361T>C (p.Met2454Thr)
c.*7103T>C (n.*7103T>C)
n.5795T>C
c.7472T>C (p.Met2491Thr)
c.7388T>C (p.Met2463Thr)
c.7358T>C (p.Met2453Thr)
c.7310T>C (p.Met2437Thr)
c.7271T>C (p.Met2424Thr)
c.7196T>C (p.Met2399Thr)
n.9067T>C
c.7385T>C (p.Met2462Thr)
c.7355T>C (p.Met2452Thr)
c.7307T>C (p.Met2436Thr)
c.7274T>C (p.Met2425Thr)
c.7244T>C (p.Met2415Thr)
c.7241T>C (p.Met2414Thr)
c.7193T>C (p.Met2398Thr)
c.7157T>C (p.Met2386Thr)
c.7154T>C (p.Met2385Thr)
c.7109T>C (p.Met2370Thr)
n.7774T>C
Xg.77508355A>TCA413703358ATRXc.7475T>A (p.Met2492Lys)
c.2573T>A (p.Met858Lys)
c.7361T>A (p.Met2454Lys)
c.*7103T>A (n.*7103T>A)
n.5795T>A
c.7472T>A (p.Met2491Lys)
c.7388T>A (p.Met2463Lys)
c.7358T>A (p.Met2453Lys)
c.7310T>A (p.Met2437Lys)
c.7271T>A (p.Met2424Lys)
c.7196T>A (p.Met2399Lys)
n.9067T>A
c.7385T>A (p.Met2462Lys)
c.7355T>A (p.Met2452Lys)
c.7307T>A (p.Met2436Lys)
c.7274T>A (p.Met2425Lys)
c.7244T>A (p.Met2415Lys)
c.7241T>A (p.Met2414Lys)
c.7193T>A (p.Met2398Lys)
c.7157T>A (p.Met2386Lys)
c.7154T>A (p.Met2385Lys)
c.7109T>A (p.Met2370Lys)
n.7774T>A
Xg.77508356T>ACA413703359ATRXc.7474A>T (p.Met2492Leu)
c.2572A>T (p.Met858Leu)
c.7360A>T (p.Met2454Leu)
c.*7102A>T (n.*7102A>T)
n.5794A>T
c.7471A>T (p.Met2491Leu)
c.7387A>T (p.Met2463Leu)
c.7357A>T (p.Met2453Leu)
c.7309A>T (p.Met2437Leu)
c.7270A>T (p.Met2424Leu)
c.7195A>T (p.Met2399Leu)
n.9066A>T
c.7384A>T (p.Met2462Leu)
c.7354A>T (p.Met2452Leu)
c.7306A>T (p.Met2436Leu)
c.7273A>T (p.Met2425Leu)
c.7243A>T (p.Met2415Leu)
c.7240A>T (p.Met2414Leu)
c.7192A>T (p.Met2398Leu)
c.7156A>T (p.Met2386Leu)
c.7153A>T (p.Met2385Leu)
c.7108A>T (p.Met2370Leu)
n.7773A>T
Xg.77508356T>CCA10457372ATRXc.7474A>G (p.Met2492Val)
c.2572A>G (p.Met858Val)
c.7360A>G (p.Met2454Val)
c.*7102A>G (n.*7102A>G)
n.5794A>G
c.7471A>G (p.Met2491Val)
c.7387A>G (p.Met2463Val)
c.7357A>G (p.Met2453Val)
c.7309A>G (p.Met2437Val)
c.7270A>G (p.Met2424Val)
c.7195A>G (p.Met2399Val)
n.9066A>G
c.7384A>G (p.Met2462Val)
c.7354A>G (p.Met2452Val)
c.7306A>G (p.Met2436Val)
c.7273A>G (p.Met2425Val)
c.7243A>G (p.Met2415Val)
c.7240A>G (p.Met2414Val)
c.7192A>G (p.Met2398Val)
c.7156A>G (p.Met2386Val)
c.7153A>G (p.Met2385Val)
c.7108A>G (p.Met2370Val)
n.7773A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77508356T>GCA413703361ATRXc.7474A>C (p.Met2492Leu)
c.2572A>C (p.Met858Leu)
c.7360A>C (p.Met2454Leu)
c.*7102A>C (n.*7102A>C)
n.5794A>C
c.7471A>C (p.Met2491Leu)
c.7387A>C (p.Met2463Leu)
c.7357A>C (p.Met2453Leu)
c.7309A>C (p.Met2437Leu)
c.7270A>C (p.Met2424Leu)
c.7195A>C (p.Met2399Leu)
n.9066A>C
c.7384A>C (p.Met2462Leu)
c.7354A>C (p.Met2452Leu)
c.7306A>C (p.Met2436Leu)
c.7273A>C (p.Met2425Leu)
c.7243A>C (p.Met2415Leu)
c.7240A>C (p.Met2414Leu)
c.7192A>C (p.Met2398Leu)
c.7156A>C (p.Met2386Leu)
c.7153A>C (p.Met2385Leu)
c.7108A>C (p.Met2370Leu)
n.7773A>C
Xg.77508356T=CA2438929015ATRXc.7474A= (p.Met2492=)
c.2572A= (p.Met858=)
c.7360A= (p.Met2454=)
c.*7102A= (n.*7102A=)
n.5794A=
c.7471A= (p.Met2491=)
c.7387A= (p.Met2463=)
c.7357A= (p.Met2453=)
c.7309A= (p.Met2437=)
c.7270A= (p.Met2424=)
c.7195A= (p.Met2399=)
n.9066A=
c.7384A= (p.Met2462=)
c.7354A= (p.Met2452=)
c.7306A= (p.Met2436=)
c.7273A= (p.Met2425=)
c.7243A= (p.Met2415=)
c.7240A= (p.Met2414=)
c.7192A= (p.Met2398=)
c.7156A= (p.Met2386=)
c.7153A= (p.Met2385=)
c.7108A= (p.Met2370=)
n.7773A=
Xg.77508357T>ACA517373949ATRXc.7473A>T (p.Ser2491=)
c.2571A>T (p.Ser857=)
c.7359A>T (p.Ser2453=)
c.*7101A>T (n.*7101A>T)
n.5793A>T
c.7470A>T (p.Ser2490=)
c.7386A>T (p.Ser2462=)
c.7356A>T (p.Ser2452=)
c.7308A>T (p.Ser2436=)
c.7269A>T (p.Ser2423=)
c.7194A>T (p.Ser2398=)
n.9065A>T
c.7383A>T (p.Ser2461=)
c.7353A>T (p.Ser2451=)
c.7305A>T (p.Ser2435=)
c.7272A>T (p.Ser2424=)
c.7242A>T (p.Ser2414=)
c.7239A>T (p.Ser2413=)
c.7191A>T (p.Ser2397=)
c.7155A>T (p.Ser2385=)
c.7152A>T (p.Ser2384=)
c.7107A>T (p.Ser2369=)
n.7772A>T
Xg.77508357T>CCA517373951ATRXc.7473A>G (p.Ser2491=)
c.2571A>G (p.Ser857=)
c.7359A>G (p.Ser2453=)
c.*7101A>G (n.*7101A>G)
n.5793A>G
c.7470A>G (p.Ser2490=)
c.7386A>G (p.Ser2462=)
c.7356A>G (p.Ser2452=)
c.7308A>G (p.Ser2436=)
c.7269A>G (p.Ser2423=)
c.7194A>G (p.Ser2398=)
n.9065A>G
c.7383A>G (p.Ser2461=)
c.7353A>G (p.Ser2451=)
c.7305A>G (p.Ser2435=)
c.7272A>G (p.Ser2424=)
c.7242A>G (p.Ser2414=)
c.7239A>G (p.Ser2413=)
c.7191A>G (p.Ser2397=)
c.7155A>G (p.Ser2385=)
c.7152A>G (p.Ser2384=)
c.7107A>G (p.Ser2369=)
n.7772A>G
Xg.77508357T>GCA517373950ATRXc.7473A>C (p.Ser2491=)
c.2571A>C (p.Ser857=)
c.7359A>C (p.Ser2453=)
c.*7101A>C (n.*7101A>C)
n.5793A>C
c.7470A>C (p.Ser2490=)
c.7386A>C (p.Ser2462=)
c.7356A>C (p.Ser2452=)
c.7308A>C (p.Ser2436=)
c.7269A>C (p.Ser2423=)
c.7194A>C (p.Ser2398=)
n.9065A>C
c.7383A>C (p.Ser2461=)
c.7353A>C (p.Ser2451=)
c.7305A>C (p.Ser2435=)
c.7272A>C (p.Ser2424=)
c.7242A>C (p.Ser2414=)
c.7239A>C (p.Ser2413=)
c.7191A>C (p.Ser2397=)
c.7155A>C (p.Ser2385=)
c.7152A>C (p.Ser2384=)
c.7107A>C (p.Ser2369=)
n.7772A>C
Xg.77508358delCA2573159516ATRXc.7472del (p.Ser2491Ter)
c.2570del (p.Ser857Ter)
c.7358del (p.Ser2453Ter)
c.*7100del (n.*7100del)
n.5792del
c.7469del (p.Ser2490Ter)
c.7385del (p.Ser2462Ter)
c.7355del (p.Ser2452Ter)
c.7307del (p.Ser2436Ter)
c.7268del (p.Ser2423Ter)
c.7193del (p.Ser2398Ter)
n.9064del
c.7382del (p.Ser2461Ter)
c.7352del (p.Ser2451Ter)
c.7304del (p.Ser2435Ter)
c.7271del (p.Ser2424Ter)
c.7241del (p.Ser2414Ter)
c.7238del (p.Ser2413Ter)
c.7190del (p.Ser2397Ter)
c.7154del (p.Ser2385Ter)
c.7151del (p.Ser2384Ter)
c.7106del (p.Ser2369Ter)
n.7771del
 ClinVar dbSNP
Xg.77508358G>ACA413703370ATRXc.7472C>T (p.Ser2491Leu)
c.2570C>T (p.Ser857Leu)
c.7358C>T (p.Ser2453Leu)
c.*7100C>T (n.*7100C>T)
n.5792C>T
c.7469C>T (p.Ser2490Leu)
c.7385C>T (p.Ser2462Leu)
c.7355C>T (p.Ser2452Leu)
c.7307C>T (p.Ser2436Leu)
c.7268C>T (p.Ser2423Leu)
c.7193C>T (p.Ser2398Leu)
n.9064C>T
c.7382C>T (p.Ser2461Leu)
c.7352C>T (p.Ser2451Leu)
c.7304C>T (p.Ser2435Leu)
c.7271C>T (p.Ser2424Leu)
c.7241C>T (p.Ser2414Leu)
c.7238C>T (p.Ser2413Leu)
c.7190C>T (p.Ser2397Leu)
c.7154C>T (p.Ser2385Leu)
c.7151C>T (p.Ser2384Leu)
c.7106C>T (p.Ser2369Leu)
n.7771C>T
Xg.77508358G>CCA413703374ATRXc.7472C>G (p.Ser2491Ter)
c.2570C>G (p.Ser857Ter)
c.7358C>G (p.Ser2453Ter)
c.*7100C>G (n.*7100C>G)
n.5792C>G
c.7469C>G (p.Ser2490Ter)
c.7385C>G (p.Ser2462Ter)
c.7355C>G (p.Ser2452Ter)
c.7307C>G (p.Ser2436Ter)
c.7268C>G (p.Ser2423Ter)
c.7193C>G (p.Ser2398Ter)
n.9064C>G
c.7382C>G (p.Ser2461Ter)
c.7352C>G (p.Ser2451Ter)
c.7304C>G (p.Ser2435Ter)
c.7271C>G (p.Ser2424Ter)
c.7241C>G (p.Ser2414Ter)
c.7238C>G (p.Ser2413Ter)
c.7190C>G (p.Ser2397Ter)
c.7154C>G (p.Ser2385Ter)
c.7151C>G (p.Ser2384Ter)
c.7106C>G (p.Ser2369Ter)
n.7771C>G
 dbSNP
Xg.77508358G=CA2438929016ATRXc.7472C= (p.Ser2491=)
c.2570C= (p.Ser857=)
c.7358C= (p.Ser2453=)
c.*7100C= (n.*7100C=)
n.5792C=
c.7469C= (p.Ser2490=)
c.7385C= (p.Ser2462=)
c.7355C= (p.Ser2452=)
c.7307C= (p.Ser2436=)
c.7268C= (p.Ser2423=)
c.7193C= (p.Ser2398=)
n.9064C=
c.7382C= (p.Ser2461=)
c.7352C= (p.Ser2451=)
c.7304C= (p.Ser2435=)
c.7271C= (p.Ser2424=)
c.7241C= (p.Ser2414=)
c.7238C= (p.Ser2413=)
c.7190C= (p.Ser2397=)
c.7154C= (p.Ser2385=)
c.7151C= (p.Ser2384=)
c.7106C= (p.Ser2369=)
n.7771C=
Xg.77508358G>TCA413703366ATRXc.7472C>A (p.Ser2491Ter)
c.2570C>A (p.Ser857Ter)
c.7358C>A (p.Ser2453Ter)
c.*7100C>A (n.*7100C>A)
n.5792C>A
c.7469C>A (p.Ser2490Ter)
c.7385C>A (p.Ser2462Ter)
c.7355C>A (p.Ser2452Ter)
c.7307C>A (p.Ser2436Ter)
c.7268C>A (p.Ser2423Ter)
c.7193C>A (p.Ser2398Ter)
n.9064C>A
c.7382C>A (p.Ser2461Ter)
c.7352C>A (p.Ser2451Ter)
c.7304C>A (p.Ser2435Ter)
c.7271C>A (p.Ser2424Ter)
c.7241C>A (p.Ser2414Ter)
c.7238C>A (p.Ser2413Ter)
c.7190C>A (p.Ser2397Ter)
c.7154C>A (p.Ser2385Ter)
c.7151C>A (p.Ser2384Ter)
c.7106C>A (p.Ser2369Ter)
n.7771C>A
Xg.77508359A>CCA413703376ATRXc.7471T>G (p.Ser2491Ala)
c.2569T>G (p.Ser857Ala)
c.7357T>G (p.Ser2453Ala)
c.*7099T>G (n.*7099T>G)
n.5791T>G
c.7468T>G (p.Ser2490Ala)
c.7384T>G (p.Ser2462Ala)
c.7354T>G (p.Ser2452Ala)
c.7306T>G (p.Ser2436Ala)
c.7267T>G (p.Ser2423Ala)
c.7192T>G (p.Ser2398Ala)
n.9063T>G
c.7381T>G (p.Ser2461Ala)
c.7351T>G (p.Ser2451Ala)
c.7303T>G (p.Ser2435Ala)
c.7270T>G (p.Ser2424Ala)
c.7240T>G (p.Ser2414Ala)
c.7237T>G (p.Ser2413Ala)
c.7189T>G (p.Ser2397Ala)
c.7153T>G (p.Ser2385Ala)
c.7150T>G (p.Ser2384Ala)
c.7105T>G (p.Ser2369Ala)
n.7770T>G
Xg.77508359A>GCA413703377ATRXc.7471T>C (p.Ser2491Pro)
c.2569T>C (p.Ser857Pro)
c.7357T>C (p.Ser2453Pro)
c.*7099T>C (n.*7099T>C)
n.5791T>C
c.7468T>C (p.Ser2490Pro)
c.7384T>C (p.Ser2462Pro)
c.7354T>C (p.Ser2452Pro)
c.7306T>C (p.Ser2436Pro)
c.7267T>C (p.Ser2423Pro)
c.7192T>C (p.Ser2398Pro)
n.9063T>C
c.7381T>C (p.Ser2461Pro)
c.7351T>C (p.Ser2451Pro)
c.7303T>C (p.Ser2435Pro)
c.7270T>C (p.Ser2424Pro)
c.7240T>C (p.Ser2414Pro)
c.7237T>C (p.Ser2413Pro)
c.7189T>C (p.Ser2397Pro)
c.7153T>C (p.Ser2385Pro)
c.7150T>C (p.Ser2384Pro)
c.7105T>C (p.Ser2369Pro)
n.7770T>C
Xg.77508359A>TCA413703378ATRXc.7471T>A (p.Ser2491Thr)
c.2569T>A (p.Ser857Thr)
c.7357T>A (p.Ser2453Thr)
c.*7099T>A (n.*7099T>A)
n.5791T>A
c.7468T>A (p.Ser2490Thr)
c.7384T>A (p.Ser2462Thr)
c.7354T>A (p.Ser2452Thr)
c.7306T>A (p.Ser2436Thr)
c.7267T>A (p.Ser2423Thr)
c.7192T>A (p.Ser2398Thr)
n.9063T>A
c.7381T>A (p.Ser2461Thr)
c.7351T>A (p.Ser2451Thr)
c.7303T>A (p.Ser2435Thr)
c.7270T>A (p.Ser2424Thr)
c.7240T>A (p.Ser2414Thr)
c.7237T>A (p.Ser2413Thr)
c.7189T>A (p.Ser2397Thr)
c.7153T>A (p.Ser2385Thr)
c.7150T>A (p.Ser2384Thr)
c.7105T>A (p.Ser2369Thr)
n.7770T>A
Xg.77508360T>ACA413703381ATRXc.7470A>T (p.Lys2490Asn)
c.2568A>T (p.Lys856Asn)
c.7356A>T (p.Lys2452Asn)
c.*7098A>T (n.*7098A>T)
n.5790A>T
c.7467A>T (p.Lys2489Asn)
c.7383A>T (p.Lys2461Asn)
c.7353A>T (p.Lys2451Asn)
c.7305A>T (p.Lys2435Asn)
c.7266A>T (p.Lys2422Asn)
c.7191A>T (p.Lys2397Asn)
n.9062A>T
c.7380A>T (p.Lys2460Asn)
c.7350A>T (p.Lys2450Asn)
c.7302A>T (p.Lys2434Asn)
c.7269A>T (p.Lys2423Asn)
c.7239A>T (p.Lys2413Asn)
c.7236A>T (p.Lys2412Asn)
c.7188A>T (p.Lys2396Asn)
c.7152A>T (p.Lys2384Asn)
c.7149A>T (p.Lys2383Asn)
c.7104A>T (p.Lys2368Asn)
n.7769A>T
Xg.77508360T>CCA517373954ATRXc.7470A>G (p.Lys2490=)
c.2568A>G (p.Lys856=)
c.7356A>G (p.Lys2452=)
c.*7098A>G (n.*7098A>G)
n.5790A>G
c.7467A>G (p.Lys2489=)
c.7383A>G (p.Lys2461=)
c.7353A>G (p.Lys2451=)
c.7305A>G (p.Lys2435=)
c.7266A>G (p.Lys2422=)
c.7191A>G (p.Lys2397=)
n.9062A>G
c.7380A>G (p.Lys2460=)
c.7350A>G (p.Lys2450=)
c.7302A>G (p.Lys2434=)
c.7269A>G (p.Lys2423=)
c.7239A>G (p.Lys2413=)
c.7236A>G (p.Lys2412=)
c.7188A>G (p.Lys2396=)
c.7152A>G (p.Lys2384=)
c.7149A>G (p.Lys2383=)
c.7104A>G (p.Lys2368=)
n.7769A>G
Xg.77508360T>GCA413703385ATRXc.7470A>C (p.Lys2490Asn)
c.2568A>C (p.Lys856Asn)
c.7356A>C (p.Lys2452Asn)
c.*7098A>C (n.*7098A>C)
n.5790A>C
c.7467A>C (p.Lys2489Asn)
c.7383A>C (p.Lys2461Asn)
c.7353A>C (p.Lys2451Asn)
c.7305A>C (p.Lys2435Asn)
c.7266A>C (p.Lys2422Asn)
c.7191A>C (p.Lys2397Asn)
n.9062A>C
c.7380A>C (p.Lys2460Asn)
c.7350A>C (p.Lys2450Asn)
c.7302A>C (p.Lys2434Asn)
c.7269A>C (p.Lys2423Asn)
c.7239A>C (p.Lys2413Asn)
c.7236A>C (p.Lys2412Asn)
c.7188A>C (p.Lys2396Asn)
c.7152A>C (p.Lys2384Asn)
c.7149A>C (p.Lys2383Asn)
c.7104A>C (p.Lys2368Asn)
n.7769A>C
Xg.77508361T>ACA413703388ATRXc.7469A>T (p.Lys2490Ile)
c.2567A>T (p.Lys856Ile)
c.7355A>T (p.Lys2452Ile)
c.*7097A>T (n.*7097A>T)
n.5789A>T
c.7466A>T (p.Lys2489Ile)
c.7382A>T (p.Lys2461Ile)
c.7352A>T (p.Lys2451Ile)
c.7304A>T (p.Lys2435Ile)
c.7265A>T (p.Lys2422Ile)
c.7190A>T (p.Lys2397Ile)
n.9061A>T
c.7379A>T (p.Lys2460Ile)
c.7349A>T (p.Lys2450Ile)
c.7301A>T (p.Lys2434Ile)
c.7268A>T (p.Lys2423Ile)
c.7238A>T (p.Lys2413Ile)
c.7235A>T (p.Lys2412Ile)
c.7187A>T (p.Lys2396Ile)
c.7151A>T (p.Lys2384Ile)
c.7148A>T (p.Lys2383Ile)
c.7103A>T (p.Lys2368Ile)
n.7768A>T
Xg.77508361T>CCA413703391ATRXc.7469A>G (p.Lys2490Arg)
c.2567A>G (p.Lys856Arg)
c.7355A>G (p.Lys2452Arg)
c.*7097A>G (n.*7097A>G)
n.5789A>G
c.7466A>G (p.Lys2489Arg)
c.7382A>G (p.Lys2461Arg)
c.7352A>G (p.Lys2451Arg)
c.7304A>G (p.Lys2435Arg)
c.7265A>G (p.Lys2422Arg)
c.7190A>G (p.Lys2397Arg)
n.9061A>G
c.7379A>G (p.Lys2460Arg)
c.7349A>G (p.Lys2450Arg)
c.7301A>G (p.Lys2434Arg)
c.7268A>G (p.Lys2423Arg)
c.7238A>G (p.Lys2413Arg)
c.7235A>G (p.Lys2412Arg)
c.7187A>G (p.Lys2396Arg)
c.7151A>G (p.Lys2384Arg)
c.7148A>G (p.Lys2383Arg)
c.7103A>G (p.Lys2368Arg)
n.7768A>G
Xg.77508361T>GCA413703393ATRXc.7469A>C (p.Lys2490Thr)
c.2567A>C (p.Lys856Thr)
c.7355A>C (p.Lys2452Thr)
c.*7097A>C (n.*7097A>C)
n.5789A>C
c.7466A>C (p.Lys2489Thr)
c.7382A>C (p.Lys2461Thr)
c.7352A>C (p.Lys2451Thr)
c.7304A>C (p.Lys2435Thr)
c.7265A>C (p.Lys2422Thr)
c.7190A>C (p.Lys2397Thr)
n.9061A>C
c.7379A>C (p.Lys2460Thr)
c.7349A>C (p.Lys2450Thr)
c.7301A>C (p.Lys2434Thr)
c.7268A>C (p.Lys2423Thr)
c.7238A>C (p.Lys2413Thr)
c.7235A>C (p.Lys2412Thr)
c.7187A>C (p.Lys2396Thr)
c.7151A>C (p.Lys2384Thr)
c.7148A>C (p.Lys2383Thr)
c.7103A>C (p.Lys2368Thr)
n.7768A>C
Xg.77508362T>ACA413703397ATRXc.7468A>T (p.Lys2490Ter)
c.2566A>T (p.Lys856Ter)
c.7354A>T (p.Lys2452Ter)
c.*7096A>T (n.*7096A>T)
n.5788A>T
c.7465A>T (p.Lys2489Ter)
c.7381A>T (p.Lys2461Ter)
c.7351A>T (p.Lys2451Ter)
c.7303A>T (p.Lys2435Ter)
c.7264A>T (p.Lys2422Ter)
c.7189A>T (p.Lys2397Ter)
n.9060A>T
c.7378A>T (p.Lys2460Ter)
c.7348A>T (p.Lys2450Ter)
c.7300A>T (p.Lys2434Ter)
c.7267A>T (p.Lys2423Ter)
c.7237A>T (p.Lys2413Ter)
c.7234A>T (p.Lys2412Ter)
c.7186A>T (p.Lys2396Ter)
c.7150A>T (p.Lys2384Ter)
c.7147A>T (p.Lys2383Ter)
c.7102A>T (p.Lys2368Ter)
n.7767A>T
 ClinVar
Xg.77508362T>CCA413703399ATRXc.7468A>G (p.Lys2490Glu)
c.2566A>G (p.Lys856Glu)
c.7354A>G (p.Lys2452Glu)
c.*7096A>G (n.*7096A>G)
n.5788A>G
c.7465A>G (p.Lys2489Glu)
c.7381A>G (p.Lys2461Glu)
c.7351A>G (p.Lys2451Glu)
c.7303A>G (p.Lys2435Glu)
c.7264A>G (p.Lys2422Glu)
c.7189A>G (p.Lys2397Glu)
n.9060A>G
c.7378A>G (p.Lys2460Glu)
c.7348A>G (p.Lys2450Glu)
c.7300A>G (p.Lys2434Glu)
c.7267A>G (p.Lys2423Glu)
c.7237A>G (p.Lys2413Glu)
c.7234A>G (p.Lys2412Glu)
c.7186A>G (p.Lys2396Glu)
c.7150A>G (p.Lys2384Glu)
c.7147A>G (p.Lys2383Glu)
c.7102A>G (p.Lys2368Glu)
n.7767A>G
Xg.77508362T>GCA413703403ATRXc.7468A>C (p.Lys2490Gln)
c.2566A>C (p.Lys856Gln)
c.7354A>C (p.Lys2452Gln)
c.*7096A>C (n.*7096A>C)
n.5788A>C
c.7465A>C (p.Lys2489Gln)
c.7381A>C (p.Lys2461Gln)
c.7351A>C (p.Lys2451Gln)
c.7303A>C (p.Lys2435Gln)
c.7264A>C (p.Lys2422Gln)
c.7189A>C (p.Lys2397Gln)
n.9060A>C
c.7378A>C (p.Lys2460Gln)
c.7348A>C (p.Lys2450Gln)
c.7300A>C (p.Lys2434Gln)
c.7267A>C (p.Lys2423Gln)
c.7237A>C (p.Lys2413Gln)
c.7234A>C (p.Lys2412Gln)
c.7186A>C (p.Lys2396Gln)
c.7150A>C (p.Lys2384Gln)
c.7147A>C (p.Lys2383Gln)
c.7102A>C (p.Lys2368Gln)
n.7767A>C
Xg.77508363C>ACA517373956ATRXc.7467G>T (p.Gly2489=)
c.2565G>T (p.Gly855=)
c.7353G>T (p.Gly2451=)
c.*7095G>T (n.*7095G>T)
n.5787G>T
c.7464G>T (p.Gly2488=)
c.7380G>T (p.Gly2460=)
c.7350G>T (p.Gly2450=)
c.7302G>T (p.Gly2434=)
c.7263G>T (p.Gly2421=)
c.7188G>T (p.Gly2396=)
n.9059G>T
c.7377G>T (p.Gly2459=)
c.7347G>T (p.Gly2449=)
c.7299G>T (p.Gly2433=)
c.7266G>T (p.Gly2422=)
c.7236G>T (p.Gly2412=)
c.7233G>T (p.Gly2411=)
c.7185G>T (p.Gly2395=)
c.7149G>T (p.Gly2383=)
c.7146G>T (p.Gly2382=)
c.7101G>T (p.Gly2367=)
n.7766G>T
Xg.77508363C=CA2438929017ATRXc.7467G= (p.Gly2489=)
c.2565G= (p.Gly855=)
c.7353G= (p.Gly2451=)
c.*7095G= (n.*7095G=)
n.5787G=
c.7464G= (p.Gly2488=)
c.7380G= (p.Gly2460=)
c.7350G= (p.Gly2450=)
c.7302G= (p.Gly2434=)
c.7263G= (p.Gly2421=)
c.7188G= (p.Gly2396=)
n.9059G=
c.7377G= (p.Gly2459=)
c.7347G= (p.Gly2449=)
c.7299G= (p.Gly2433=)
c.7266G= (p.Gly2422=)
c.7236G= (p.Gly2412=)
c.7233G= (p.Gly2411=)
c.7185G= (p.Gly2395=)
c.7149G= (p.Gly2383=)
c.7146G= (p.Gly2382=)
c.7101G= (p.Gly2367=)
n.7766G=
Xg.77508363C>GCA517373960ATRXc.7467G>C (p.Gly2489=)
c.2565G>C (p.Gly855=)
c.7353G>C (p.Gly2451=)
c.*7095G>C (n.*7095G>C)
n.5787G>C
c.7464G>C (p.Gly2488=)
c.7380G>C (p.Gly2460=)
c.7350G>C (p.Gly2450=)
c.7302G>C (p.Gly2434=)
c.7263G>C (p.Gly2421=)
c.7188G>C (p.Gly2396=)
n.9059G>C
c.7377G>C (p.Gly2459=)
c.7347G>C (p.Gly2449=)
c.7299G>C (p.Gly2433=)
c.7266G>C (p.Gly2422=)
c.7236G>C (p.Gly2412=)
c.7233G>C (p.Gly2411=)
c.7185G>C (p.Gly2395=)
c.7149G>C (p.Gly2383=)
c.7146G>C (p.Gly2382=)
c.7101G>C (p.Gly2367=)
n.7766G>C
Xg.77508363C>TCA517373958ATRXc.7467G>A (p.Gly2489=)
c.2565G>A (p.Gly855=)
c.7353G>A (p.Gly2451=)
c.*7095G>A (n.*7095G>A)
n.5787G>A
c.7464G>A (p.Gly2488=)
c.7380G>A (p.Gly2460=)
c.7350G>A (p.Gly2450=)
c.7302G>A (p.Gly2434=)
c.7263G>A (p.Gly2421=)
c.7188G>A (p.Gly2396=)
n.9059G>A
c.7377G>A (p.Gly2459=)
c.7347G>A (p.Gly2449=)
c.7299G>A (p.Gly2433=)
c.7266G>A (p.Gly2422=)
c.7236G>A (p.Gly2412=)
c.7233G>A (p.Gly2411=)
c.7185G>A (p.Gly2395=)
c.7149G>A (p.Gly2383=)
c.7146G>A (p.Gly2382=)
c.7101G>A (p.Gly2367=)
n.7766G>A
 dbSNP
Xg.77508364C>ACA413703409ATRXc.7466G>T (p.Gly2489Val)
c.2564G>T (p.Gly855Val)
c.7352G>T (p.Gly2451Val)
c.*7094G>T (n.*7094G>T)
n.5786G>T
c.7463G>T (p.Gly2488Val)
c.7379G>T (p.Gly2460Val)
c.7349G>T (p.Gly2450Val)
c.7301G>T (p.Gly2434Val)
c.7262G>T (p.Gly2421Val)
c.7187G>T (p.Gly2396Val)
n.9058G>T
c.7376G>T (p.Gly2459Val)
c.7346G>T (p.Gly2449Val)
c.7298G>T (p.Gly2433Val)
c.7265G>T (p.Gly2422Val)
c.7235G>T (p.Gly2412Val)
c.7232G>T (p.Gly2411Val)
c.7184G>T (p.Gly2395Val)
c.7148G>T (p.Gly2383Val)
c.7145G>T (p.Gly2382Val)
c.7100G>T (p.Gly2367Val)
n.7765G>T
Xg.77508364C=CA2438929018ATRXc.7466G= (p.Gly2489=)
c.2564G= (p.Gly855=)
c.7352G= (p.Gly2451=)
c.*7094G= (n.*7094G=)
n.5786G=
c.7463G= (p.Gly2488=)
c.7379G= (p.Gly2460=)
c.7349G= (p.Gly2450=)
c.7301G= (p.Gly2434=)
c.7262G= (p.Gly2421=)
c.7187G= (p.Gly2396=)
n.9058G=
c.7376G= (p.Gly2459=)
c.7346G= (p.Gly2449=)
c.7298G= (p.Gly2433=)
c.7265G= (p.Gly2422=)
c.7235G= (p.Gly2412=)
c.7232G= (p.Gly2411=)
c.7184G= (p.Gly2395=)
c.7148G= (p.Gly2383=)
c.7145G= (p.Gly2382=)
c.7100G= (p.Gly2367=)
n.7765G=
Xg.77508364C>GCA413703412ATRXc.7466G>C (p.Gly2489Ala)
c.2564G>C (p.Gly855Ala)
c.7352G>C (p.Gly2451Ala)
c.*7094G>C (n.*7094G>C)
n.5786G>C
c.7463G>C (p.Gly2488Ala)
c.7379G>C (p.Gly2460Ala)
c.7349G>C (p.Gly2450Ala)
c.7301G>C (p.Gly2434Ala)
c.7262G>C (p.Gly2421Ala)
c.7187G>C (p.Gly2396Ala)
n.9058G>C
c.7376G>C (p.Gly2459Ala)
c.7346G>C (p.Gly2449Ala)
c.7298G>C (p.Gly2433Ala)
c.7265G>C (p.Gly2422Ala)
c.7235G>C (p.Gly2412Ala)
c.7232G>C (p.Gly2411Ala)
c.7184G>C (p.Gly2395Ala)
c.7148G>C (p.Gly2383Ala)
c.7145G>C (p.Gly2382Ala)
c.7100G>C (p.Gly2367Ala)
n.7765G>C
Xg.77508364C>TCA10457373ATRXc.7466G>A (p.Gly2489Glu)
c.2564G>A (p.Gly855Glu)
c.7352G>A (p.Gly2451Glu)
c.*7094G>A (n.*7094G>A)
n.5786G>A
c.7463G>A (p.Gly2488Glu)
c.7379G>A (p.Gly2460Glu)
c.7349G>A (p.Gly2450Glu)
c.7301G>A (p.Gly2434Glu)
c.7262G>A (p.Gly2421Glu)
c.7187G>A (p.Gly2396Glu)
n.9058G>A
c.7376G>A (p.Gly2459Glu)
c.7346G>A (p.Gly2449Glu)
c.7298G>A (p.Gly2433Glu)
c.7265G>A (p.Gly2422Glu)
c.7235G>A (p.Gly2412Glu)
c.7232G>A (p.Gly2411Glu)
c.7184G>A (p.Gly2395Glu)
c.7148G>A (p.Gly2383Glu)
c.7145G>A (p.Gly2382Glu)
c.7100G>A (p.Gly2367Glu)
n.7765G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508364_77508365insTCTCA2522507208ATRXc.7465_7466insAGA (p.Gly2489delinsGluArg)
c.2563_2564insAGA (p.Gly855delinsGluArg)
c.7351_7352insAGA (p.Gly2451delinsGluArg)
c.*7093_*7094insAGA (n.*7093_*7094insAGA)
n.5785_5786insAGA
c.7462_7463insAGA (p.Gly2488delinsGluArg)
c.7378_7379insAGA (p.Gly2460delinsGluArg)
c.7348_7349insAGA (p.Gly2450delinsGluArg)
c.7300_7301insAGA (p.Gly2434delinsGluArg)
c.7261_7262insAGA (p.Gly2421delinsGluArg)
c.7186_7187insAGA (p.Gly2396delinsGluArg)
n.9057_9058insAGA
c.7375_7376insAGA (p.Gly2459delinsGluArg)
c.7345_7346insAGA (p.Gly2449delinsGluArg)
c.7297_7298insAGA (p.Gly2433delinsGluArg)
c.7264_7265insAGA (p.Gly2422delinsGluArg)
c.7234_7235insAGA (p.Gly2412delinsGluArg)
c.7231_7232insAGA (p.Gly2411delinsGluArg)
c.7183_7184insAGA (p.Gly2395delinsGluArg)
c.7147_7148insAGA (p.Gly2383delinsGluArg)
c.7144_7145insAGA (p.Gly2382delinsGluArg)
c.7099_7100insAGA (p.Gly2367delinsGluArg)
n.7764_7765insAGA
Xg.77508365C>ACA413703416ATRXc.7465G>T (p.Gly2489Trp)
c.2563G>T (p.Gly855Trp)
c.7351G>T (p.Gly2451Trp)
c.*7093G>T (n.*7093G>T)
n.5785G>T
c.7462G>T (p.Gly2488Trp)
c.7378G>T (p.Gly2460Trp)
c.7348G>T (p.Gly2450Trp)
c.7300G>T (p.Gly2434Trp)
c.7261G>T (p.Gly2421Trp)
c.7186G>T (p.Gly2396Trp)
n.9057G>T
c.7375G>T (p.Gly2459Trp)
c.7345G>T (p.Gly2449Trp)
c.7297G>T (p.Gly2433Trp)
c.7264G>T (p.Gly2422Trp)
c.7234G>T (p.Gly2412Trp)
c.7231G>T (p.Gly2411Trp)
c.7183G>T (p.Gly2395Trp)
c.7147G>T (p.Gly2383Trp)
c.7144G>T (p.Gly2382Trp)
c.7099G>T (p.Gly2367Trp)
n.7764G>T
Xg.77508365C>GCA413703426ATRXc.7465G>C (p.Gly2489Arg)
c.2563G>C (p.Gly855Arg)
c.7351G>C (p.Gly2451Arg)
c.*7093G>C (n.*7093G>C)
n.5785G>C
c.7462G>C (p.Gly2488Arg)
c.7378G>C (p.Gly2460Arg)
c.7348G>C (p.Gly2450Arg)
c.7300G>C (p.Gly2434Arg)
c.7261G>C (p.Gly2421Arg)
c.7186G>C (p.Gly2396Arg)
n.9057G>C
c.7375G>C (p.Gly2459Arg)
c.7345G>C (p.Gly2449Arg)
c.7297G>C (p.Gly2433Arg)
c.7264G>C (p.Gly2422Arg)
c.7234G>C (p.Gly2412Arg)
c.7231G>C (p.Gly2411Arg)
c.7183G>C (p.Gly2395Arg)
c.7147G>C (p.Gly2383Arg)
c.7144G>C (p.Gly2382Arg)
c.7099G>C (p.Gly2367Arg)
n.7764G>C
Xg.77508365C>TCA413703428ATRXc.7465G>A (p.Gly2489Arg)
c.2563G>A (p.Gly855Arg)
c.7351G>A (p.Gly2451Arg)
c.*7093G>A (n.*7093G>A)
n.5785G>A
c.7462G>A (p.Gly2488Arg)
c.7378G>A (p.Gly2460Arg)
c.7348G>A (p.Gly2450Arg)
c.7300G>A (p.Gly2434Arg)
c.7261G>A (p.Gly2421Arg)
c.7186G>A (p.Gly2396Arg)
n.9057G>A
c.7375G>A (p.Gly2459Arg)
c.7345G>A (p.Gly2449Arg)
c.7297G>A (p.Gly2433Arg)
c.7264G>A (p.Gly2422Arg)
c.7234G>A (p.Gly2412Arg)
c.7231G>A (p.Gly2411Arg)
c.7183G>A (p.Gly2395Arg)
c.7147G>A (p.Gly2383Arg)
c.7144G>A (p.Gly2382Arg)
c.7099G>A (p.Gly2367Arg)
n.7764G>A
Xg.77508366T>ACA413703431ATRXc.7464A>T (p.Gln2488His)
c.2562A>T (p.Gln854His)
c.7350A>T (p.Gln2450His)
c.*7092A>T (n.*7092A>T)
n.5784A>T
c.7461A>T (p.Gln2487His)
c.7377A>T (p.Gln2459His)
c.7347A>T (p.Gln2449His)
c.7299A>T (p.Gln2433His)
c.7260A>T (p.Gln2420His)
c.7185A>T (p.Gln2395His)
n.9056A>T
c.7374A>T (p.Gln2458His)
c.7344A>T (p.Gln2448His)
c.7296A>T (p.Gln2432His)
c.7263A>T (p.Gln2421His)
c.7233A>T (p.Gln2411His)
c.7230A>T (p.Gln2410His)
c.7182A>T (p.Gln2394His)
c.7146A>T (p.Gln2382His)
c.7143A>T (p.Gln2381His)
c.7098A>T (p.Gln2366His)
n.7763A>T
 COSMIC COSMIC
Xg.77508366T>CCA517373962ATRXc.7464A>G (p.Gln2488=)
c.2562A>G (p.Gln854=)
c.7350A>G (p.Gln2450=)
c.*7092A>G (n.*7092A>G)
n.5784A>G
c.7461A>G (p.Gln2487=)
c.7377A>G (p.Gln2459=)
c.7347A>G (p.Gln2449=)
c.7299A>G (p.Gln2433=)
c.7260A>G (p.Gln2420=)
c.7185A>G (p.Gln2395=)
n.9056A>G
c.7374A>G (p.Gln2458=)
c.7344A>G (p.Gln2448=)
c.7296A>G (p.Gln2432=)
c.7263A>G (p.Gln2421=)
c.7233A>G (p.Gln2411=)
c.7230A>G (p.Gln2410=)
c.7182A>G (p.Gln2394=)
c.7146A>G (p.Gln2382=)
c.7143A>G (p.Gln2381=)
c.7098A>G (p.Gln2366=)
n.7763A>G
Xg.77508366T>GCA413703434ATRXc.7464A>C (p.Gln2488His)
c.2562A>C (p.Gln854His)
c.7350A>C (p.Gln2450His)
c.*7092A>C (n.*7092A>C)
n.5784A>C
c.7461A>C (p.Gln2487His)
c.7377A>C (p.Gln2459His)
c.7347A>C (p.Gln2449His)
c.7299A>C (p.Gln2433His)
c.7260A>C (p.Gln2420His)
c.7185A>C (p.Gln2395His)
n.9056A>C
c.7374A>C (p.Gln2458His)
c.7344A>C (p.Gln2448His)
c.7296A>C (p.Gln2432His)
c.7263A>C (p.Gln2421His)
c.7233A>C (p.Gln2411His)
c.7230A>C (p.Gln2410His)
c.7182A>C (p.Gln2394His)
c.7146A>C (p.Gln2382His)
c.7143A>C (p.Gln2381His)
c.7098A>C (p.Gln2366His)
n.7763A>C
Xg.77508367T>ACA413703444ATRXc.7463A>T (p.Gln2488Leu)
c.2561A>T (p.Gln854Leu)
c.7349A>T (p.Gln2450Leu)
c.*7091A>T (n.*7091A>T)
n.5783A>T
c.7460A>T (p.Gln2487Leu)
c.7376A>T (p.Gln2459Leu)
c.7346A>T (p.Gln2449Leu)
c.7298A>T (p.Gln2433Leu)
c.7259A>T (p.Gln2420Leu)
c.7184A>T (p.Gln2395Leu)
n.9055A>T
c.7373A>T (p.Gln2458Leu)
c.7343A>T (p.Gln2448Leu)
c.7295A>T (p.Gln2432Leu)
c.7262A>T (p.Gln2421Leu)
c.7232A>T (p.Gln2411Leu)
c.7229A>T (p.Gln2410Leu)
c.7181A>T (p.Gln2394Leu)
c.7145A>T (p.Gln2382Leu)
c.7142A>T (p.Gln2381Leu)
c.7097A>T (p.Gln2366Leu)
n.7762A>T
Xg.77508367T>CCA413703439ATRXc.7463A>G (p.Gln2488Arg)
c.2561A>G (p.Gln854Arg)
c.7349A>G (p.Gln2450Arg)
c.*7091A>G (n.*7091A>G)
n.5783A>G
c.7460A>G (p.Gln2487Arg)
c.7376A>G (p.Gln2459Arg)
c.7346A>G (p.Gln2449Arg)
c.7298A>G (p.Gln2433Arg)
c.7259A>G (p.Gln2420Arg)
c.7184A>G (p.Gln2395Arg)
n.9055A>G
c.7373A>G (p.Gln2458Arg)
c.7343A>G (p.Gln2448Arg)
c.7295A>G (p.Gln2432Arg)
c.7262A>G (p.Gln2421Arg)
c.7232A>G (p.Gln2411Arg)
c.7229A>G (p.Gln2410Arg)
c.7181A>G (p.Gln2394Arg)
c.7145A>G (p.Gln2382Arg)
c.7142A>G (p.Gln2381Arg)
c.7097A>G (p.Gln2366Arg)
n.7762A>G
Xg.77508367T>GCA413703442ATRXc.7463A>C (p.Gln2488Pro)
c.2561A>C (p.Gln854Pro)
c.7349A>C (p.Gln2450Pro)
c.*7091A>C (n.*7091A>C)
n.5783A>C
c.7460A>C (p.Gln2487Pro)
c.7376A>C (p.Gln2459Pro)
c.7346A>C (p.Gln2449Pro)
c.7298A>C (p.Gln2433Pro)
c.7259A>C (p.Gln2420Pro)
c.7184A>C (p.Gln2395Pro)
n.9055A>C
c.7373A>C (p.Gln2458Pro)
c.7343A>C (p.Gln2448Pro)
c.7295A>C (p.Gln2432Pro)
c.7262A>C (p.Gln2421Pro)
c.7232A>C (p.Gln2411Pro)
c.7229A>C (p.Gln2410Pro)
c.7181A>C (p.Gln2394Pro)
c.7145A>C (p.Gln2382Pro)
c.7142A>C (p.Gln2381Pro)
c.7097A>C (p.Gln2366Pro)
n.7762A>C
Xg.77508368G>ACA413703447ATRXc.7462C>T (p.Gln2488Ter)
c.2560C>T (p.Gln854Ter)
c.7348C>T (p.Gln2450Ter)
c.*7090C>T (n.*7090C>T)
n.5782C>T
c.7459C>T (p.Gln2487Ter)
c.7375C>T (p.Gln2459Ter)
c.7345C>T (p.Gln2449Ter)
c.7297C>T (p.Gln2433Ter)
c.7258C>T (p.Gln2420Ter)
c.7183C>T (p.Gln2395Ter)
n.9054C>T
c.7372C>T (p.Gln2458Ter)
c.7342C>T (p.Gln2448Ter)
c.7294C>T (p.Gln2432Ter)
c.7261C>T (p.Gln2421Ter)
c.7231C>T (p.Gln2411Ter)
c.7228C>T (p.Gln2410Ter)
c.7180C>T (p.Gln2394Ter)
c.7144C>T (p.Gln2382Ter)
c.7141C>T (p.Gln2381Ter)
c.7096C>T (p.Gln2366Ter)
n.7761C>T
Xg.77508368G>CCA413703450ATRXc.7462C>G (p.Gln2488Glu)
c.2560C>G (p.Gln854Glu)
c.7348C>G (p.Gln2450Glu)
c.*7090C>G (n.*7090C>G)
n.5782C>G
c.7459C>G (p.Gln2487Glu)
c.7375C>G (p.Gln2459Glu)
c.7345C>G (p.Gln2449Glu)
c.7297C>G (p.Gln2433Glu)
c.7258C>G (p.Gln2420Glu)
c.7183C>G (p.Gln2395Glu)
n.9054C>G
c.7372C>G (p.Gln2458Glu)
c.7342C>G (p.Gln2448Glu)
c.7294C>G (p.Gln2432Glu)
c.7261C>G (p.Gln2421Glu)
c.7231C>G (p.Gln2411Glu)
c.7228C>G (p.Gln2410Glu)
c.7180C>G (p.Gln2394Glu)
c.7144C>G (p.Gln2382Glu)
c.7141C>G (p.Gln2381Glu)
c.7096C>G (p.Gln2366Glu)
n.7761C>G
Xg.77508368G>TCA413703453ATRXc.7462C>A (p.Gln2488Lys)
c.2560C>A (p.Gln854Lys)
c.7348C>A (p.Gln2450Lys)
c.*7090C>A (n.*7090C>A)
n.5782C>A
c.7459C>A (p.Gln2487Lys)
c.7375C>A (p.Gln2459Lys)
c.7345C>A (p.Gln2449Lys)
c.7297C>A (p.Gln2433Lys)
c.7258C>A (p.Gln2420Lys)
c.7183C>A (p.Gln2395Lys)
n.9054C>A
c.7372C>A (p.Gln2458Lys)
c.7342C>A (p.Gln2448Lys)
c.7294C>A (p.Gln2432Lys)
c.7261C>A (p.Gln2421Lys)
c.7231C>A (p.Gln2411Lys)
c.7228C>A (p.Gln2410Lys)
c.7180C>A (p.Gln2394Lys)
c.7144C>A (p.Gln2382Lys)
c.7141C>A (p.Gln2381Lys)
c.7096C>A (p.Gln2366Lys)
n.7761C>A
Xg.77508369G>ACA517373964ATRXc.7461C>T (p.Ser2487=)
c.2559C>T (p.Ser853=)
c.7347C>T (p.Ser2449=)
c.*7089C>T (n.*7089C>T)
n.5781C>T
c.7458C>T (p.Ser2486=)
c.7374C>T (p.Ser2458=)
c.7344C>T (p.Ser2448=)
c.7296C>T (p.Ser2432=)
c.7257C>T (p.Ser2419=)
c.7182C>T (p.Ser2394=)
n.9053C>T
c.7371C>T (p.Ser2457=)
c.7341C>T (p.Ser2447=)
c.7293C>T (p.Ser2431=)
c.7260C>T (p.Ser2420=)
c.7230C>T (p.Ser2410=)
c.7227C>T (p.Ser2409=)
c.7179C>T (p.Ser2393=)
c.7143C>T (p.Ser2381=)
c.7140C>T (p.Ser2380=)
c.7095C>T (p.Ser2365=)
n.7760C>T
 COSMIC COSMIC
Xg.77508369G>CCA517373965ATRXc.7461C>G (p.Ser2487=)
c.2559C>G (p.Ser853=)
c.7347C>G (p.Ser2449=)
c.*7089C>G (n.*7089C>G)
n.5781C>G
c.7458C>G (p.Ser2486=)
c.7374C>G (p.Ser2458=)
c.7344C>G (p.Ser2448=)
c.7296C>G (p.Ser2432=)
c.7257C>G (p.Ser2419=)
c.7182C>G (p.Ser2394=)
n.9053C>G
c.7371C>G (p.Ser2457=)
c.7341C>G (p.Ser2447=)
c.7293C>G (p.Ser2431=)
c.7260C>G (p.Ser2420=)
c.7230C>G (p.Ser2410=)
c.7227C>G (p.Ser2409=)
c.7179C>G (p.Ser2393=)
c.7143C>G (p.Ser2381=)
c.7140C>G (p.Ser2380=)
c.7095C>G (p.Ser2365=)
n.7760C>G
Xg.77508369G>TCA517373966ATRXc.7461C>A (p.Ser2487=)
c.2559C>A (p.Ser853=)
c.7347C>A (p.Ser2449=)
c.*7089C>A (n.*7089C>A)
n.5781C>A
c.7458C>A (p.Ser2486=)
c.7374C>A (p.Ser2458=)
c.7344C>A (p.Ser2448=)
c.7296C>A (p.Ser2432=)
c.7257C>A (p.Ser2419=)
c.7182C>A (p.Ser2394=)
n.9053C>A
c.7371C>A (p.Ser2457=)
c.7341C>A (p.Ser2447=)
c.7293C>A (p.Ser2431=)
c.7260C>A (p.Ser2420=)
c.7230C>A (p.Ser2410=)
c.7227C>A (p.Ser2409=)
c.7179C>A (p.Ser2393=)
c.7143C>A (p.Ser2381=)
c.7140C>A (p.Ser2380=)
c.7095C>A (p.Ser2365=)
n.7760C>A
 dbSNP
Xg.77508370G>ACA413703454ATRXc.7460C>T (p.Ser2487Phe)
c.2558C>T (p.Ser853Phe)
c.7346C>T (p.Ser2449Phe)
c.*7088C>T (n.*7088C>T)
n.5780C>T
c.7457C>T (p.Ser2486Phe)
c.7373C>T (p.Ser2458Phe)
c.7343C>T (p.Ser2448Phe)
c.7295C>T (p.Ser2432Phe)
c.7256C>T (p.Ser2419Phe)
c.7181C>T (p.Ser2394Phe)
n.9052C>T
c.7370C>T (p.Ser2457Phe)
c.7340C>T (p.Ser2447Phe)
c.7292C>T (p.Ser2431Phe)
c.7259C>T (p.Ser2420Phe)
c.7229C>T (p.Ser2410Phe)
c.7226C>T (p.Ser2409Phe)
c.7178C>T (p.Ser2393Phe)
c.7142C>T (p.Ser2381Phe)
c.7139C>T (p.Ser2380Phe)
c.7094C>T (p.Ser2365Phe)
n.7759C>T
 dbSNP
Xg.77508370G>CCA413703455ATRXc.7460C>G (p.Ser2487Cys)
c.2558C>G (p.Ser853Cys)
c.7346C>G (p.Ser2449Cys)
c.*7088C>G (n.*7088C>G)
n.5780C>G
c.7457C>G (p.Ser2486Cys)
c.7373C>G (p.Ser2458Cys)
c.7343C>G (p.Ser2448Cys)
c.7295C>G (p.Ser2432Cys)
c.7256C>G (p.Ser2419Cys)
c.7181C>G (p.Ser2394Cys)
n.9052C>G
c.7370C>G (p.Ser2457Cys)
c.7340C>G (p.Ser2447Cys)
c.7292C>G (p.Ser2431Cys)
c.7259C>G (p.Ser2420Cys)
c.7229C>G (p.Ser2410Cys)
c.7226C>G (p.Ser2409Cys)
c.7178C>G (p.Ser2393Cys)
c.7142C>G (p.Ser2381Cys)
c.7139C>G (p.Ser2380Cys)
c.7094C>G (p.Ser2365Cys)
n.7759C>G
Xg.77508370G=CA2438929019ATRXc.7460C= (p.Ser2487=)
c.2558C= (p.Ser853=)
c.7346C= (p.Ser2449=)
c.*7088C= (n.*7088C=)
n.5780C=
c.7457C= (p.Ser2486=)
c.7373C= (p.Ser2458=)
c.7343C= (p.Ser2448=)
c.7295C= (p.Ser2432=)
c.7256C= (p.Ser2419=)
c.7181C= (p.Ser2394=)
n.9052C=
c.7370C= (p.Ser2457=)
c.7340C= (p.Ser2447=)
c.7292C= (p.Ser2431=)
c.7259C= (p.Ser2420=)
c.7229C= (p.Ser2410=)
c.7226C= (p.Ser2409=)
c.7178C= (p.Ser2393=)
c.7142C= (p.Ser2381=)
c.7139C= (p.Ser2380=)
c.7094C= (p.Ser2365=)
n.7759C=
Xg.77508370G>TCA413703456ATRXc.7460C>A (p.Ser2487Tyr)
c.2558C>A (p.Ser853Tyr)
c.7346C>A (p.Ser2449Tyr)
c.*7088C>A (n.*7088C>A)
n.5780C>A
c.7457C>A (p.Ser2486Tyr)
c.7373C>A (p.Ser2458Tyr)
c.7343C>A (p.Ser2448Tyr)
c.7295C>A (p.Ser2432Tyr)
c.7256C>A (p.Ser2419Tyr)
c.7181C>A (p.Ser2394Tyr)
n.9052C>A
c.7370C>A (p.Ser2457Tyr)
c.7340C>A (p.Ser2447Tyr)
c.7292C>A (p.Ser2431Tyr)
c.7259C>A (p.Ser2420Tyr)
c.7229C>A (p.Ser2410Tyr)
c.7226C>A (p.Ser2409Tyr)
c.7178C>A (p.Ser2393Tyr)
c.7142C>A (p.Ser2381Tyr)
c.7139C>A (p.Ser2380Tyr)
c.7094C>A (p.Ser2365Tyr)
n.7759C>A
Xg.77508371A=CA2438929020ATRXc.7459T= (p.Ser2487=)
c.2557T= (p.Ser853=)
c.7345T= (p.Ser2449=)
c.*7087T= (n.*7087T=)
n.5779T=
c.7456T= (p.Ser2486=)
c.7372T= (p.Ser2458=)
c.7342T= (p.Ser2448=)
c.7294T= (p.Ser2432=)
c.7255T= (p.Ser2419=)
c.7180T= (p.Ser2394=)
n.9051T=
c.7369T= (p.Ser2457=)
c.7339T= (p.Ser2447=)
c.7291T= (p.Ser2431=)
c.7258T= (p.Ser2420=)
c.7228T= (p.Ser2410=)
c.7225T= (p.Ser2409=)
c.7177T= (p.Ser2393=)
c.7141T= (p.Ser2381=)
c.7138T= (p.Ser2380=)
c.7093T= (p.Ser2365=)
n.7758T=
Xg.77508371A>CCA413703459ATRXc.7459T>G (p.Ser2487Ala)
c.2557T>G (p.Ser853Ala)
c.7345T>G (p.Ser2449Ala)
c.*7087T>G (n.*7087T>G)
n.5779T>G
c.7456T>G (p.Ser2486Ala)
c.7372T>G (p.Ser2458Ala)
c.7342T>G (p.Ser2448Ala)
c.7294T>G (p.Ser2432Ala)
c.7255T>G (p.Ser2419Ala)
c.7180T>G (p.Ser2394Ala)
n.9051T>G
c.7369T>G (p.Ser2457Ala)
c.7339T>G (p.Ser2447Ala)
c.7291T>G (p.Ser2431Ala)
c.7258T>G (p.Ser2420Ala)
c.7228T>G (p.Ser2410Ala)
c.7225T>G (p.Ser2409Ala)
c.7177T>G (p.Ser2393Ala)
c.7141T>G (p.Ser2381Ala)
c.7138T>G (p.Ser2380Ala)
c.7093T>G (p.Ser2365Ala)
n.7758T>G
Xg.77508371A>GCA331560032ATRXc.7459T>C (p.Ser2487Pro)
c.2557T>C (p.Ser853Pro)
c.7345T>C (p.Ser2449Pro)
c.*7087T>C (n.*7087T>C)
n.5779T>C
c.7456T>C (p.Ser2486Pro)
c.7372T>C (p.Ser2458Pro)
c.7342T>C (p.Ser2448Pro)
c.7294T>C (p.Ser2432Pro)
c.7255T>C (p.Ser2419Pro)
c.7180T>C (p.Ser2394Pro)
n.9051T>C
c.7369T>C (p.Ser2457Pro)
c.7339T>C (p.Ser2447Pro)
c.7291T>C (p.Ser2431Pro)
c.7258T>C (p.Ser2420Pro)
c.7228T>C (p.Ser2410Pro)
c.7225T>C (p.Ser2409Pro)
c.7177T>C (p.Ser2393Pro)
c.7141T>C (p.Ser2381Pro)
c.7138T>C (p.Ser2380Pro)
c.7093T>C (p.Ser2365Pro)
n.7758T>C
 dbSNP
Xg.77508371A>TCA413703457ATRXc.7459T>A (p.Ser2487Thr)
c.2557T>A (p.Ser853Thr)
c.7345T>A (p.Ser2449Thr)
c.*7087T>A (n.*7087T>A)
n.5779T>A
c.7456T>A (p.Ser2486Thr)
c.7372T>A (p.Ser2458Thr)
c.7342T>A (p.Ser2448Thr)
c.7294T>A (p.Ser2432Thr)
c.7255T>A (p.Ser2419Thr)
c.7180T>A (p.Ser2394Thr)
n.9051T>A
c.7369T>A (p.Ser2457Thr)
c.7339T>A (p.Ser2447Thr)
c.7291T>A (p.Ser2431Thr)
c.7258T>A (p.Ser2420Thr)
c.7228T>A (p.Ser2410Thr)
c.7225T>A (p.Ser2409Thr)
c.7177T>A (p.Ser2393Thr)
c.7141T>A (p.Ser2381Thr)
c.7138T>A (p.Ser2380Thr)
c.7093T>A (p.Ser2365Thr)
n.7758T>A
Xg.77508372A>CCA517373971ATRXc.7458T>G (p.Pro2486=)
c.2556T>G (p.Pro852=)
c.7344T>G (p.Pro2448=)
c.*7086T>G (n.*7086T>G)
n.5778T>G
c.7455T>G (p.Pro2485=)
c.7371T>G (p.Pro2457=)
c.7341T>G (p.Pro2447=)
c.7293T>G (p.Pro2431=)
c.7254T>G (p.Pro2418=)
c.7179T>G (p.Pro2393=)
n.9050T>G
c.7368T>G (p.Pro2456=)
c.7338T>G (p.Pro2446=)
c.7290T>G (p.Pro2430=)
c.7257T>G (p.Pro2419=)
c.7227T>G (p.Pro2409=)
c.7224T>G (p.Pro2408=)
c.7176T>G (p.Pro2392=)
c.7140T>G (p.Pro2380=)
c.7137T>G (p.Pro2379=)
c.7092T>G (p.Pro2364=)
n.7757T>G
Xg.77508372A>GCA517373969ATRXc.7458T>C (p.Pro2486=)
c.2556T>C (p.Pro852=)
c.7344T>C (p.Pro2448=)
c.*7086T>C (n.*7086T>C)
n.5778T>C
c.7455T>C (p.Pro2485=)
c.7371T>C (p.Pro2457=)
c.7341T>C (p.Pro2447=)
c.7293T>C (p.Pro2431=)
c.7254T>C (p.Pro2418=)
c.7179T>C (p.Pro2393=)
n.9050T>C
c.7368T>C (p.Pro2456=)
c.7338T>C (p.Pro2446=)
c.7290T>C (p.Pro2430=)
c.7257T>C (p.Pro2419=)
c.7227T>C (p.Pro2409=)
c.7224T>C (p.Pro2408=)
c.7176T>C (p.Pro2392=)
c.7140T>C (p.Pro2380=)
c.7137T>C (p.Pro2379=)
c.7092T>C (p.Pro2364=)
n.7757T>C
Xg.77508372A>TCA517373970ATRXc.7458T>A (p.Pro2486=)
c.2556T>A (p.Pro852=)
c.7344T>A (p.Pro2448=)
c.*7086T>A (n.*7086T>A)
n.5778T>A
c.7455T>A (p.Pro2485=)
c.7371T>A (p.Pro2457=)
c.7341T>A (p.Pro2447=)
c.7293T>A (p.Pro2431=)
c.7254T>A (p.Pro2418=)
c.7179T>A (p.Pro2393=)
n.9050T>A
c.7368T>A (p.Pro2456=)
c.7338T>A (p.Pro2446=)
c.7290T>A (p.Pro2430=)
c.7257T>A (p.Pro2419=)
c.7227T>A (p.Pro2409=)
c.7224T>A (p.Pro2408=)
c.7176T>A (p.Pro2392=)
c.7140T>A (p.Pro2380=)
c.7137T>A (p.Pro2379=)
c.7092T>A (p.Pro2364=)
n.7757T>A
Xg.77508373G>ACA413703467ATRXc.7457C>T (p.Pro2486Leu)
c.2555C>T (p.Pro852Leu)
c.7343C>T (p.Pro2448Leu)
c.*7085C>T (n.*7085C>T)
n.5777C>T
c.7454C>T (p.Pro2485Leu)
c.7370C>T (p.Pro2457Leu)
c.7340C>T (p.Pro2447Leu)
c.7292C>T (p.Pro2431Leu)
c.7253C>T (p.Pro2418Leu)
c.7178C>T (p.Pro2393Leu)
n.9049C>T
c.7367C>T (p.Pro2456Leu)
c.7337C>T (p.Pro2446Leu)
c.7289C>T (p.Pro2430Leu)
c.7256C>T (p.Pro2419Leu)
c.7226C>T (p.Pro2409Leu)
c.7223C>T (p.Pro2408Leu)
c.7175C>T (p.Pro2392Leu)
c.7139C>T (p.Pro2380Leu)
c.7136C>T (p.Pro2379Leu)
c.7091C>T (p.Pro2364Leu)
n.7756C>T
Xg.77508373G>CCA413703463ATRXc.7457C>G (p.Pro2486Arg)
c.2555C>G (p.Pro852Arg)
c.7343C>G (p.Pro2448Arg)
c.*7085C>G (n.*7085C>G)
n.5777C>G
c.7454C>G (p.Pro2485Arg)
c.7370C>G (p.Pro2457Arg)
c.7340C>G (p.Pro2447Arg)
c.7292C>G (p.Pro2431Arg)
c.7253C>G (p.Pro2418Arg)
c.7178C>G (p.Pro2393Arg)
n.9049C>G
c.7367C>G (p.Pro2456Arg)
c.7337C>G (p.Pro2446Arg)
c.7289C>G (p.Pro2430Arg)
c.7256C>G (p.Pro2419Arg)
c.7226C>G (p.Pro2409Arg)
c.7223C>G (p.Pro2408Arg)
c.7175C>G (p.Pro2392Arg)
c.7139C>G (p.Pro2380Arg)
c.7136C>G (p.Pro2379Arg)
c.7091C>G (p.Pro2364Arg)
n.7756C>G
Xg.77508373G>TCA413703465ATRXc.7457C>A (p.Pro2486His)
c.2555C>A (p.Pro852His)
c.7343C>A (p.Pro2448His)
c.*7085C>A (n.*7085C>A)
n.5777C>A
c.7454C>A (p.Pro2485His)
c.7370C>A (p.Pro2457His)
c.7340C>A (p.Pro2447His)
c.7292C>A (p.Pro2431His)
c.7253C>A (p.Pro2418His)
c.7178C>A (p.Pro2393His)
n.9049C>A
c.7367C>A (p.Pro2456His)
c.7337C>A (p.Pro2446His)
c.7289C>A (p.Pro2430His)
c.7256C>A (p.Pro2419His)
c.7226C>A (p.Pro2409His)
c.7223C>A (p.Pro2408His)
c.7175C>A (p.Pro2392His)
c.7139C>A (p.Pro2380His)
c.7136C>A (p.Pro2379His)
c.7091C>A (p.Pro2364His)
n.7756C>A
Xg.77508374G>ACA413703470ATRXc.7456C>T (p.Pro2486Ser)
c.2554C>T (p.Pro852Ser)
c.7342C>T (p.Pro2448Ser)
c.*7084C>T (n.*7084C>T)
n.5776C>T
c.7453C>T (p.Pro2485Ser)
c.7369C>T (p.Pro2457Ser)
c.7339C>T (p.Pro2447Ser)
c.7291C>T (p.Pro2431Ser)
c.7252C>T (p.Pro2418Ser)
c.7177C>T (p.Pro2393Ser)
n.9048C>T
c.7366C>T (p.Pro2456Ser)
c.7336C>T (p.Pro2446Ser)
c.7288C>T (p.Pro2430Ser)
c.7255C>T (p.Pro2419Ser)
c.7225C>T (p.Pro2409Ser)
c.7222C>T (p.Pro2408Ser)
c.7174C>T (p.Pro2392Ser)
c.7138C>T (p.Pro2380Ser)
c.7135C>T (p.Pro2379Ser)
c.7090C>T (p.Pro2364Ser)
n.7755C>T
Xg.77508374G>CCA413703473ATRXc.7456C>G (p.Pro2486Ala)
c.2554C>G (p.Pro852Ala)
c.7342C>G (p.Pro2448Ala)
c.*7084C>G (n.*7084C>G)
n.5776C>G
c.7453C>G (p.Pro2485Ala)
c.7369C>G (p.Pro2457Ala)
c.7339C>G (p.Pro2447Ala)
c.7291C>G (p.Pro2431Ala)
c.7252C>G (p.Pro2418Ala)
c.7177C>G (p.Pro2393Ala)
n.9048C>G
c.7366C>G (p.Pro2456Ala)
c.7336C>G (p.Pro2446Ala)
c.7288C>G (p.Pro2430Ala)
c.7255C>G (p.Pro2419Ala)
c.7225C>G (p.Pro2409Ala)
c.7222C>G (p.Pro2408Ala)
c.7174C>G (p.Pro2392Ala)
c.7138C>G (p.Pro2380Ala)
c.7135C>G (p.Pro2379Ala)
c.7090C>G (p.Pro2364Ala)
n.7755C>G
Xg.77508374G>TCA413703476ATRXc.7456C>A (p.Pro2486Thr)
c.2554C>A (p.Pro852Thr)
c.7342C>A (p.Pro2448Thr)
c.*7084C>A (n.*7084C>A)
n.5776C>A
c.7453C>A (p.Pro2485Thr)
c.7369C>A (p.Pro2457Thr)
c.7339C>A (p.Pro2447Thr)
c.7291C>A (p.Pro2431Thr)
c.7252C>A (p.Pro2418Thr)
c.7177C>A (p.Pro2393Thr)
n.9048C>A
c.7366C>A (p.Pro2456Thr)
c.7336C>A (p.Pro2446Thr)
c.7288C>A (p.Pro2430Thr)
c.7255C>A (p.Pro2419Thr)
c.7225C>A (p.Pro2409Thr)
c.7222C>A (p.Pro2408Thr)
c.7174C>A (p.Pro2392Thr)
c.7138C>A (p.Pro2380Thr)
c.7135C>A (p.Pro2379Thr)
c.7090C>A (p.Pro2364Thr)
n.7755C>A
Xg.77508375T>ACA517373973ATRXc.7455A>T (p.Gly2485=)
c.2553A>T (p.Gly851=)
c.7341A>T (p.Gly2447=)
c.*7083A>T (n.*7083A>T)
n.5775A>T
c.7452A>T (p.Gly2484=)
c.7368A>T (p.Gly2456=)
c.7338A>T (p.Gly2446=)
c.7290A>T (p.Gly2430=)
c.7251A>T (p.Gly2417=)
c.7176A>T (p.Gly2392=)
n.9047A>T
c.7365A>T (p.Gly2455=)
c.7335A>T (p.Gly2445=)
c.7287A>T (p.Gly2429=)
c.7254A>T (p.Gly2418=)
c.7224A>T (p.Gly2408=)
c.7221A>T (p.Gly2407=)
c.7173A>T (p.Gly2391=)
c.7137A>T (p.Gly2379=)
c.7134A>T (p.Gly2378=)
c.7089A>T (p.Gly2363=)
n.7754A>T
Xg.77508375T>CCA517373974ATRXc.7455A>G (p.Gly2485=)
c.2553A>G (p.Gly851=)
c.7341A>G (p.Gly2447=)
c.*7083A>G (n.*7083A>G)
n.5775A>G
c.7452A>G (p.Gly2484=)
c.7368A>G (p.Gly2456=)
c.7338A>G (p.Gly2446=)
c.7290A>G (p.Gly2430=)
c.7251A>G (p.Gly2417=)
c.7176A>G (p.Gly2392=)
n.9047A>G
c.7365A>G (p.Gly2455=)
c.7335A>G (p.Gly2445=)
c.7287A>G (p.Gly2429=)
c.7254A>G (p.Gly2418=)
c.7224A>G (p.Gly2408=)
c.7221A>G (p.Gly2407=)
c.7173A>G (p.Gly2391=)
c.7137A>G (p.Gly2379=)
c.7134A>G (p.Gly2378=)
c.7089A>G (p.Gly2363=)
n.7754A>G
Xg.77508375T>GCA517373975ATRXc.7455A>C (p.Gly2485=)
c.2553A>C (p.Gly851=)
c.7341A>C (p.Gly2447=)
c.*7083A>C (n.*7083A>C)
n.5775A>C
c.7452A>C (p.Gly2484=)
c.7368A>C (p.Gly2456=)
c.7338A>C (p.Gly2446=)
c.7290A>C (p.Gly2430=)
c.7251A>C (p.Gly2417=)
c.7176A>C (p.Gly2392=)
n.9047A>C
c.7365A>C (p.Gly2455=)
c.7335A>C (p.Gly2445=)
c.7287A>C (p.Gly2429=)
c.7254A>C (p.Gly2418=)
c.7224A>C (p.Gly2408=)
c.7221A>C (p.Gly2407=)
c.7173A>C (p.Gly2391=)
c.7137A>C (p.Gly2379=)
c.7134A>C (p.Gly2378=)
c.7089A>C (p.Gly2363=)
n.7754A>C
Xg.77508376C>ACA413703479ATRXc.7454G>T (p.Gly2485Val)
c.2552G>T (p.Gly851Val)
c.7340G>T (p.Gly2447Val)
c.*7082G>T (n.*7082G>T)
n.5774G>T
c.7451G>T (p.Gly2484Val)
c.7367G>T (p.Gly2456Val)
c.7337G>T (p.Gly2446Val)
c.7289G>T (p.Gly2430Val)
c.7250G>T (p.Gly2417Val)
c.7175G>T (p.Gly2392Val)
n.9046G>T
c.7364G>T (p.Gly2455Val)
c.7334G>T (p.Gly2445Val)
c.7286G>T (p.Gly2429Val)
c.7253G>T (p.Gly2418Val)
c.7223G>T (p.Gly2408Val)
c.7220G>T (p.Gly2407Val)
c.7172G>T (p.Gly2391Val)
c.7136G>T (p.Gly2379Val)
c.7133G>T (p.Gly2378Val)
c.7088G>T (p.Gly2363Val)
n.7753G>T
Xg.77508376C=CA2438929021ATRXc.7454G= (p.Gly2485=)
c.2552G= (p.Gly851=)
c.7340G= (p.Gly2447=)
c.*7082G= (n.*7082G=)
n.5774G=
c.7451G= (p.Gly2484=)
c.7367G= (p.Gly2456=)
c.7337G= (p.Gly2446=)
c.7289G= (p.Gly2430=)
c.7250G= (p.Gly2417=)
c.7175G= (p.Gly2392=)
n.9046G=
c.7364G= (p.Gly2455=)
c.7334G= (p.Gly2445=)
c.7286G= (p.Gly2429=)
c.7253G= (p.Gly2418=)
c.7223G= (p.Gly2408=)
c.7220G= (p.Gly2407=)
c.7172G= (p.Gly2391=)
c.7136G= (p.Gly2379=)
c.7133G= (p.Gly2378=)
c.7088G= (p.Gly2363=)
n.7753G=
Xg.77508376C>GCA413703481ATRXc.7454G>C (p.Gly2485Ala)
c.2552G>C (p.Gly851Ala)
c.7340G>C (p.Gly2447Ala)
c.*7082G>C (n.*7082G>C)
n.5774G>C
c.7451G>C (p.Gly2484Ala)
c.7367G>C (p.Gly2456Ala)
c.7337G>C (p.Gly2446Ala)
c.7289G>C (p.Gly2430Ala)
c.7250G>C (p.Gly2417Ala)
c.7175G>C (p.Gly2392Ala)
n.9046G>C
c.7364G>C (p.Gly2455Ala)
c.7334G>C (p.Gly2445Ala)
c.7286G>C (p.Gly2429Ala)
c.7253G>C (p.Gly2418Ala)
c.7223G>C (p.Gly2408Ala)
c.7220G>C (p.Gly2407Ala)
c.7172G>C (p.Gly2391Ala)
c.7136G>C (p.Gly2379Ala)
c.7133G>C (p.Gly2378Ala)
c.7088G>C (p.Gly2363Ala)
n.7753G>C
Xg.77508376C>TCA10457374ATRXc.7454G>A (p.Gly2485Glu)
c.2552G>A (p.Gly851Glu)
c.7340G>A (p.Gly2447Glu)
c.*7082G>A (n.*7082G>A)
n.5774G>A
c.7451G>A (p.Gly2484Glu)
c.7367G>A (p.Gly2456Glu)
c.7337G>A (p.Gly2446Glu)
c.7289G>A (p.Gly2430Glu)
c.7250G>A (p.Gly2417Glu)
c.7175G>A (p.Gly2392Glu)
n.9046G>A
c.7364G>A (p.Gly2455Glu)
c.7334G>A (p.Gly2445Glu)
c.7286G>A (p.Gly2429Glu)
c.7253G>A (p.Gly2418Glu)
c.7223G>A (p.Gly2408Glu)
c.7220G>A (p.Gly2407Glu)
c.7172G>A (p.Gly2391Glu)
c.7136G>A (p.Gly2379Glu)
c.7133G>A (p.Gly2378Glu)
c.7088G>A (p.Gly2363Glu)
n.7753G>A
 ClinVar dbSNP ExAC gnomAD v2
Xg.77508377C>ACA413703487ATRXc.7453G>T (p.Gly2485Ter)
c.2551G>T (p.Gly851Ter)
c.7339G>T (p.Gly2447Ter)
c.*7081G>T (n.*7081G>T)
n.5773G>T
c.7450G>T (p.Gly2484Ter)
c.7366G>T (p.Gly2456Ter)
c.7336G>T (p.Gly2446Ter)
c.7288G>T (p.Gly2430Ter)
c.7249G>T (p.Gly2417Ter)
c.7174G>T (p.Gly2392Ter)
n.9045G>T
c.7363G>T (p.Gly2455Ter)
c.7333G>T (p.Gly2445Ter)
c.7285G>T (p.Gly2429Ter)
c.7252G>T (p.Gly2418Ter)
c.7222G>T (p.Gly2408Ter)
c.7219G>T (p.Gly2407Ter)
c.7171G>T (p.Gly2391Ter)
c.7135G>T (p.Gly2379Ter)
c.7132G>T (p.Gly2378Ter)
c.7087G>T (p.Gly2363Ter)
n.7752G>T
Xg.77508377C>GCA413703489ATRXc.7453G>C (p.Gly2485Arg)
c.2551G>C (p.Gly851Arg)
c.7339G>C (p.Gly2447Arg)
c.*7081G>C (n.*7081G>C)
n.5773G>C
c.7450G>C (p.Gly2484Arg)
c.7366G>C (p.Gly2456Arg)
c.7336G>C (p.Gly2446Arg)
c.7288G>C (p.Gly2430Arg)
c.7249G>C (p.Gly2417Arg)
c.7174G>C (p.Gly2392Arg)
n.9045G>C
c.7363G>C (p.Gly2455Arg)
c.7333G>C (p.Gly2445Arg)
c.7285G>C (p.Gly2429Arg)
c.7252G>C (p.Gly2418Arg)
c.7222G>C (p.Gly2408Arg)
c.7219G>C (p.Gly2407Arg)
c.7171G>C (p.Gly2391Arg)
c.7135G>C (p.Gly2379Arg)
c.7132G>C (p.Gly2378Arg)
c.7087G>C (p.Gly2363Arg)
n.7752G>C
Xg.77508377C>TCA413703490ATRXc.7453G>A (p.Gly2485Arg)
c.2551G>A (p.Gly851Arg)
c.7339G>A (p.Gly2447Arg)
c.*7081G>A (n.*7081G>A)
n.5773G>A
c.7450G>A (p.Gly2484Arg)
c.7366G>A (p.Gly2456Arg)
c.7336G>A (p.Gly2446Arg)
c.7288G>A (p.Gly2430Arg)
c.7249G>A (p.Gly2417Arg)
c.7174G>A (p.Gly2392Arg)
n.9045G>A
c.7363G>A (p.Gly2455Arg)
c.7333G>A (p.Gly2445Arg)
c.7285G>A (p.Gly2429Arg)
c.7252G>A (p.Gly2418Arg)
c.7222G>A (p.Gly2408Arg)
c.7219G>A (p.Gly2407Arg)
c.7171G>A (p.Gly2391Arg)
c.7135G>A (p.Gly2379Arg)
c.7132G>A (p.Gly2378Arg)
c.7087G>A (p.Gly2363Arg)
n.7752G>A
Xg.77508378T>ACA517373977ATRXc.7452A>T (p.Pro2484=)
c.2550A>T (p.Pro850=)
c.7338A>T (p.Pro2446=)
c.*7080A>T (n.*7080A>T)
n.5772A>T
c.7449A>T (p.Pro2483=)
c.7365A>T (p.Pro2455=)
c.7335A>T (p.Pro2445=)
c.7287A>T (p.Pro2429=)
c.7248A>T (p.Pro2416=)
c.7173A>T (p.Pro2391=)
n.9044A>T
c.7362A>T (p.Pro2454=)
c.7332A>T (p.Pro2444=)
c.7284A>T (p.Pro2428=)
c.7251A>T (p.Pro2417=)
c.7221A>T (p.Pro2407=)
c.7218A>T (p.Pro2406=)
c.7170A>T (p.Pro2390=)
c.7134A>T (p.Pro2378=)
c.7131A>T (p.Pro2377=)
c.7086A>T (p.Pro2362=)
n.7751A>T
Xg.77508378T>CCA517373978ATRXc.7452A>G (p.Pro2484=)
c.2550A>G (p.Pro850=)
c.7338A>G (p.Pro2446=)
c.*7080A>G (n.*7080A>G)
n.5772A>G
c.7449A>G (p.Pro2483=)
c.7365A>G (p.Pro2455=)
c.7335A>G (p.Pro2445=)
c.7287A>G (p.Pro2429=)
c.7248A>G (p.Pro2416=)
c.7173A>G (p.Pro2391=)
n.9044A>G
c.7362A>G (p.Pro2454=)
c.7332A>G (p.Pro2444=)
c.7284A>G (p.Pro2428=)
c.7251A>G (p.Pro2417=)
c.7221A>G (p.Pro2407=)
c.7218A>G (p.Pro2406=)
c.7170A>G (p.Pro2390=)
c.7134A>G (p.Pro2378=)
c.7131A>G (p.Pro2377=)
c.7086A>G (p.Pro2362=)
n.7751A>G
Xg.77508378T>GCA517373979ATRXc.7452A>C (p.Pro2484=)
c.2550A>C (p.Pro850=)
c.7338A>C (p.Pro2446=)
c.*7080A>C (n.*7080A>C)
n.5772A>C
c.7449A>C (p.Pro2483=)
c.7365A>C (p.Pro2455=)
c.7335A>C (p.Pro2445=)
c.7287A>C (p.Pro2429=)
c.7248A>C (p.Pro2416=)
c.7173A>C (p.Pro2391=)
n.9044A>C
c.7362A>C (p.Pro2454=)
c.7332A>C (p.Pro2444=)
c.7284A>C (p.Pro2428=)
c.7251A>C (p.Pro2417=)
c.7221A>C (p.Pro2407=)
c.7218A>C (p.Pro2406=)
c.7170A>C (p.Pro2390=)
c.7134A>C (p.Pro2378=)
c.7131A>C (p.Pro2377=)
c.7086A>C (p.Pro2362=)
n.7751A>C
Xg.77508379G>ACA413703497ATRXc.7451C>T (p.Pro2484Leu)
c.2549C>T (p.Pro850Leu)
c.7337C>T (p.Pro2446Leu)
c.*7079C>T (n.*7079C>T)
n.5771C>T
c.7448C>T (p.Pro2483Leu)
c.7364C>T (p.Pro2455Leu)
c.7334C>T (p.Pro2445Leu)
c.7286C>T (p.Pro2429Leu)
c.7247C>T (p.Pro2416Leu)
c.7172C>T (p.Pro2391Leu)
n.9043C>T
c.7361C>T (p.Pro2454Leu)
c.7331C>T (p.Pro2444Leu)
c.7283C>T (p.Pro2428Leu)
c.7250C>T (p.Pro2417Leu)
c.7220C>T (p.Pro2407Leu)
c.7217C>T (p.Pro2406Leu)
c.7169C>T (p.Pro2390Leu)
c.7133C>T (p.Pro2378Leu)
c.7130C>T (p.Pro2377Leu)
c.7085C>T (p.Pro2362Leu)
n.7750C>T
Xg.77508379G>CCA413703493ATRXc.7451C>G (p.Pro2484Arg)
c.2549C>G (p.Pro850Arg)
c.7337C>G (p.Pro2446Arg)
c.*7079C>G (n.*7079C>G)
n.5771C>G
c.7448C>G (p.Pro2483Arg)
c.7364C>G (p.Pro2455Arg)
c.7334C>G (p.Pro2445Arg)
c.7286C>G (p.Pro2429Arg)
c.7247C>G (p.Pro2416Arg)
c.7172C>G (p.Pro2391Arg)
n.9043C>G
c.7361C>G (p.Pro2454Arg)
c.7331C>G (p.Pro2444Arg)
c.7283C>G (p.Pro2428Arg)
c.7250C>G (p.Pro2417Arg)
c.7220C>G (p.Pro2407Arg)
c.7217C>G (p.Pro2406Arg)
c.7169C>G (p.Pro2390Arg)
c.7133C>G (p.Pro2378Arg)
c.7130C>G (p.Pro2377Arg)
c.7085C>G (p.Pro2362Arg)
n.7750C>G
 dbSNP
Xg.77508379G>TCA413703491ATRXc.7451C>A (p.Pro2484Gln)
c.2549C>A (p.Pro850Gln)
c.7337C>A (p.Pro2446Gln)
c.*7079C>A (n.*7079C>A)
n.5771C>A
c.7448C>A (p.Pro2483Gln)
c.7364C>A (p.Pro2455Gln)
c.7334C>A (p.Pro2445Gln)
c.7286C>A (p.Pro2429Gln)
c.7247C>A (p.Pro2416Gln)
c.7172C>A (p.Pro2391Gln)
n.9043C>A
c.7361C>A (p.Pro2454Gln)
c.7331C>A (p.Pro2444Gln)
c.7283C>A (p.Pro2428Gln)
c.7250C>A (p.Pro2417Gln)
c.7220C>A (p.Pro2407Gln)
c.7217C>A (p.Pro2406Gln)
c.7169C>A (p.Pro2390Gln)
c.7133C>A (p.Pro2378Gln)
c.7130C>A (p.Pro2377Gln)
c.7085C>A (p.Pro2362Gln)
n.7750C>A
Xg.77508380G>ACA413703500ATRXc.7450C>T (p.Pro2484Ser)
c.2548C>T (p.Pro850Ser)
c.7336C>T (p.Pro2446Ser)
c.*7078C>T (n.*7078C>T)
n.5770C>T
c.7447C>T (p.Pro2483Ser)
c.7363C>T (p.Pro2455Ser)
c.7333C>T (p.Pro2445Ser)
c.7285C>T (p.Pro2429Ser)
c.7246C>T (p.Pro2416Ser)
c.7171C>T (p.Pro2391Ser)
n.9042C>T
c.7360C>T (p.Pro2454Ser)
c.7330C>T (p.Pro2444Ser)
c.7282C>T (p.Pro2428Ser)
c.7249C>T (p.Pro2417Ser)
c.7219C>T (p.Pro2407Ser)
c.7216C>T (p.Pro2406Ser)
c.7168C>T (p.Pro2390Ser)
c.7132C>T (p.Pro2378Ser)
c.7129C>T (p.Pro2377Ser)
c.7084C>T (p.Pro2362Ser)
n.7749C>T
Xg.77508380G>CCA413703503ATRXc.7450C>G (p.Pro2484Ala)
c.2548C>G (p.Pro850Ala)
c.7336C>G (p.Pro2446Ala)
c.*7078C>G (n.*7078C>G)
n.5770C>G
c.7447C>G (p.Pro2483Ala)
c.7363C>G (p.Pro2455Ala)
c.7333C>G (p.Pro2445Ala)
c.7285C>G (p.Pro2429Ala)
c.7246C>G (p.Pro2416Ala)
c.7171C>G (p.Pro2391Ala)
n.9042C>G
c.7360C>G (p.Pro2454Ala)
c.7330C>G (p.Pro2444Ala)
c.7282C>G (p.Pro2428Ala)
c.7249C>G (p.Pro2417Ala)
c.7219C>G (p.Pro2407Ala)
c.7216C>G (p.Pro2406Ala)
c.7168C>G (p.Pro2390Ala)
c.7132C>G (p.Pro2378Ala)
c.7129C>G (p.Pro2377Ala)
c.7084C>G (p.Pro2362Ala)
n.7749C>G
 gnomAD v4
Xg.77508380G>TCA413703506ATRXc.7450C>A (p.Pro2484Thr)
c.2548C>A (p.Pro850Thr)
c.7336C>A (p.Pro2446Thr)
c.*7078C>A (n.*7078C>A)
n.5770C>A
c.7447C>A (p.Pro2483Thr)
c.7363C>A (p.Pro2455Thr)
c.7333C>A (p.Pro2445Thr)
c.7285C>A (p.Pro2429Thr)
c.7246C>A (p.Pro2416Thr)
c.7171C>A (p.Pro2391Thr)
n.9042C>A
c.7360C>A (p.Pro2454Thr)
c.7330C>A (p.Pro2444Thr)
c.7282C>A (p.Pro2428Thr)
c.7249C>A (p.Pro2417Thr)
c.7219C>A (p.Pro2407Thr)
c.7216C>A (p.Pro2406Thr)
c.7168C>A (p.Pro2390Thr)
c.7132C>A (p.Pro2378Thr)
c.7129C>A (p.Pro2377Thr)
c.7084C>A (p.Pro2362Thr)
n.7749C>A
Xg.77508381delCA645602237ATRXc.7449del (p.Pro2484GlnfsTer16)
c.2547del (p.Pro850GlnfsTer16)
c.7335del (p.Pro2446GlnfsTer16)
c.*7077del (n.*7077del)
n.5769del
c.7446del (p.Pro2483GlnfsTer16)
c.7362del (p.Pro2455GlnfsTer16)
c.7332del (p.Pro2445GlnfsTer16)
c.7284del (p.Pro2429GlnfsTer16)
c.7245del (p.Pro2416GlnfsTer16)
c.7170del (p.Pro2391GlnfsTer16)
n.9041del
c.7359del (p.Pro2454GlnfsTer16)
c.7329del (p.Pro2444GlnfsTer16)
c.7281del (p.Pro2428GlnfsTer16)
c.7248del (p.Pro2417GlnfsTer16)
c.7218del (p.Pro2407GlnfsTer16)
c.7215del (p.Pro2406GlnfsTer16)
c.7167del (p.Pro2390GlnfsTer16)
c.7131del (p.Pro2378GlnfsTer16)
c.7128del (p.Pro2377GlnfsTer16)
c.7083del (p.Pro2362GlnfsTer16)
n.7748del
 COSMIC
Xg.77508381A>CCA413703509ATRXc.7449T>G (p.Asn2483Lys)
c.2547T>G (p.Asn849Lys)
c.7335T>G (p.Asn2445Lys)
c.*7077T>G (n.*7077T>G)
n.5769T>G
c.7446T>G (p.Asn2482Lys)
c.7362T>G (p.Asn2454Lys)
c.7332T>G (p.Asn2444Lys)
c.7284T>G (p.Asn2428Lys)
c.7245T>G (p.Asn2415Lys)
c.7170T>G (p.Asn2390Lys)
n.9041T>G
c.7359T>G (p.Asn2453Lys)
c.7329T>G (p.Asn2443Lys)
c.7281T>G (p.Asn2427Lys)
c.7248T>G (p.Asn2416Lys)
c.7218T>G (p.Asn2406Lys)
c.7215T>G (p.Asn2405Lys)
c.7167T>G (p.Asn2389Lys)
c.7131T>G (p.Asn2377Lys)
c.7128T>G (p.Asn2376Lys)
c.7083T>G (p.Asn2361Lys)
n.7748T>G
Xg.77508381A>GCA517373981ATRXc.7449T>C (p.Asn2483=)
c.2547T>C (p.Asn849=)
c.7335T>C (p.Asn2445=)
c.*7077T>C (n.*7077T>C)
n.5769T>C
c.7446T>C (p.Asn2482=)
c.7362T>C (p.Asn2454=)
c.7332T>C (p.Asn2444=)
c.7284T>C (p.Asn2428=)
c.7245T>C (p.Asn2415=)
c.7170T>C (p.Asn2390=)
n.9041T>C
c.7359T>C (p.Asn2453=)
c.7329T>C (p.Asn2443=)
c.7281T>C (p.Asn2427=)
c.7248T>C (p.Asn2416=)
c.7218T>C (p.Asn2406=)
c.7215T>C (p.Asn2405=)
c.7167T>C (p.Asn2389=)
c.7131T>C (p.Asn2377=)
c.7128T>C (p.Asn2376=)
c.7083T>C (p.Asn2361=)
n.7748T>C
Xg.77508381A>TCA413703510ATRXc.7449T>A (p.Asn2483Lys)
c.2547T>A (p.Asn849Lys)
c.7335T>A (p.Asn2445Lys)
c.*7077T>A (n.*7077T>A)
n.5769T>A
c.7446T>A (p.Asn2482Lys)
c.7362T>A (p.Asn2454Lys)
c.7332T>A (p.Asn2444Lys)
c.7284T>A (p.Asn2428Lys)
c.7245T>A (p.Asn2415Lys)
c.7170T>A (p.Asn2390Lys)
n.9041T>A
c.7359T>A (p.Asn2453Lys)
c.7329T>A (p.Asn2443Lys)
c.7281T>A (p.Asn2427Lys)
c.7248T>A (p.Asn2416Lys)
c.7218T>A (p.Asn2406Lys)
c.7215T>A (p.Asn2405Lys)
c.7167T>A (p.Asn2389Lys)
c.7131T>A (p.Asn2377Lys)
c.7128T>A (p.Asn2376Lys)
c.7083T>A (p.Asn2361Lys)
n.7748T>A
Xg.77508382T>ACA413703515ATRXc.7448A>T (p.Asn2483Ile)
c.2546A>T (p.Asn849Ile)
c.7334A>T (p.Asn2445Ile)
c.*7076A>T (n.*7076A>T)
n.5768A>T
c.7445A>T (p.Asn2482Ile)
c.7361A>T (p.Asn2454Ile)
c.7331A>T (p.Asn2444Ile)
c.7283A>T (p.Asn2428Ile)
c.7244A>T (p.Asn2415Ile)
c.7169A>T (p.Asn2390Ile)
n.9040A>T
c.7358A>T (p.Asn2453Ile)
c.7328A>T (p.Asn2443Ile)
c.7280A>T (p.Asn2427Ile)
c.7247A>T (p.Asn2416Ile)
c.7217A>T (p.Asn2406Ile)
c.7214A>T (p.Asn2405Ile)
c.7166A>T (p.Asn2389Ile)
c.7130A>T (p.Asn2377Ile)
c.7127A>T (p.Asn2376Ile)
c.7082A>T (p.Asn2361Ile)
n.7747A>T
Xg.77508382T>CCA413703518ATRXc.7448A>G (p.Asn2483Ser)
c.2546A>G (p.Asn849Ser)
c.7334A>G (p.Asn2445Ser)
c.*7076A>G (n.*7076A>G)
n.5768A>G
c.7445A>G (p.Asn2482Ser)
c.7361A>G (p.Asn2454Ser)
c.7331A>G (p.Asn2444Ser)
c.7283A>G (p.Asn2428Ser)
c.7244A>G (p.Asn2415Ser)
c.7169A>G (p.Asn2390Ser)
n.9040A>G
c.7358A>G (p.Asn2453Ser)
c.7328A>G (p.Asn2443Ser)
c.7280A>G (p.Asn2427Ser)
c.7247A>G (p.Asn2416Ser)
c.7217A>G (p.Asn2406Ser)
c.7214A>G (p.Asn2405Ser)
c.7166A>G (p.Asn2389Ser)
c.7130A>G (p.Asn2377Ser)
c.7127A>G (p.Asn2376Ser)
c.7082A>G (p.Asn2361Ser)
n.7747A>G
Xg.77508382T>GCA413703521ATRXc.7448A>C (p.Asn2483Thr)
c.2546A>C (p.Asn849Thr)
c.7334A>C (p.Asn2445Thr)
c.*7076A>C (n.*7076A>C)
n.5768A>C
c.7445A>C (p.Asn2482Thr)
c.7361A>C (p.Asn2454Thr)
c.7331A>C (p.Asn2444Thr)
c.7283A>C (p.Asn2428Thr)
c.7244A>C (p.Asn2415Thr)
c.7169A>C (p.Asn2390Thr)
n.9040A>C
c.7358A>C (p.Asn2453Thr)
c.7328A>C (p.Asn2443Thr)
c.7280A>C (p.Asn2427Thr)
c.7247A>C (p.Asn2416Thr)
c.7217A>C (p.Asn2406Thr)
c.7214A>C (p.Asn2405Thr)
c.7166A>C (p.Asn2389Thr)
c.7130A>C (p.Asn2377Thr)
c.7127A>C (p.Asn2376Thr)
c.7082A>C (p.Asn2361Thr)
n.7747A>C
Xg.77508386dupCA2579648637ATRXc.7448dup (p.Asn2483LysfsTer15)
c.2546dup (p.Asn849LysfsTer15)
c.7334dup (p.Asn2445LysfsTer15)
c.*7076dup (n.*7076dup)
n.5768dup
c.7445dup (p.Asn2482LysfsTer15)
c.7361dup (p.Asn2454LysfsTer15)
c.7331dup (p.Asn2444LysfsTer15)
c.7283dup (p.Asn2428LysfsTer15)
c.7244dup (p.Asn2415LysfsTer15)
c.7169dup (p.Asn2390LysfsTer15)
n.9040dup
c.7358dup (p.Asn2453LysfsTer15)
c.7328dup (p.Asn2443LysfsTer15)
c.7280dup (p.Asn2427LysfsTer15)
c.7247dup (p.Asn2416LysfsTer15)
c.7217dup (p.Asn2406LysfsTer15)
c.7214dup (p.Asn2405LysfsTer15)
c.7166dup (p.Asn2389LysfsTer15)
c.7130dup (p.Asn2377LysfsTer15)
c.7127dup (p.Asn2376LysfsTer15)
c.7082dup (p.Asn2361LysfsTer15)
n.7747dup
Xg.77508383T>ACA413703524ATRXc.7447A>T (p.Asn2483Tyr)
c.2545A>T (p.Asn849Tyr)
c.7333A>T (p.Asn2445Tyr)
c.*7075A>T (n.*7075A>T)
n.5767A>T
c.7444A>T (p.Asn2482Tyr)
c.7360A>T (p.Asn2454Tyr)
c.7330A>T (p.Asn2444Tyr)
c.7282A>T (p.Asn2428Tyr)
c.7243A>T (p.Asn2415Tyr)
c.7168A>T (p.Asn2390Tyr)
n.9039A>T
c.7357A>T (p.Asn2453Tyr)
c.7327A>T (p.Asn2443Tyr)
c.7279A>T (p.Asn2427Tyr)
c.7246A>T (p.Asn2416Tyr)
c.7216A>T (p.Asn2406Tyr)
c.7213A>T (p.Asn2405Tyr)
c.7165A>T (p.Asn2389Tyr)
c.7129A>T (p.Asn2377Tyr)
c.7126A>T (p.Asn2376Tyr)
c.7081A>T (p.Asn2361Tyr)
n.7746A>T
Xg.77508383T>CCA413703527ATRXc.7447A>G (p.Asn2483Asp)
c.2545A>G (p.Asn849Asp)
c.7333A>G (p.Asn2445Asp)
c.*7075A>G (n.*7075A>G)
n.5767A>G
c.7444A>G (p.Asn2482Asp)
c.7360A>G (p.Asn2454Asp)
c.7330A>G (p.Asn2444Asp)
c.7282A>G (p.Asn2428Asp)
c.7243A>G (p.Asn2415Asp)
c.7168A>G (p.Asn2390Asp)
n.9039A>G
c.7357A>G (p.Asn2453Asp)
c.7327A>G (p.Asn2443Asp)
c.7279A>G (p.Asn2427Asp)
c.7246A>G (p.Asn2416Asp)
c.7216A>G (p.Asn2406Asp)
c.7213A>G (p.Asn2405Asp)
c.7165A>G (p.Asn2389Asp)
c.7129A>G (p.Asn2377Asp)
c.7126A>G (p.Asn2376Asp)
c.7081A>G (p.Asn2361Asp)
n.7746A>G
Xg.77508383T>GCA413703530ATRXc.7447A>C (p.Asn2483His)
c.2545A>C (p.Asn849His)
c.7333A>C (p.Asn2445His)
c.*7075A>C (n.*7075A>C)
n.5767A>C
c.7444A>C (p.Asn2482His)
c.7360A>C (p.Asn2454His)
c.7330A>C (p.Asn2444His)
c.7282A>C (p.Asn2428His)
c.7243A>C (p.Asn2415His)
c.7168A>C (p.Asn2390His)
n.9039A>C
c.7357A>C (p.Asn2453His)
c.7327A>C (p.Asn2443His)
c.7279A>C (p.Asn2427His)
c.7246A>C (p.Asn2416His)
c.7216A>C (p.Asn2406His)
c.7213A>C (p.Asn2405His)
c.7165A>C (p.Asn2389His)
c.7129A>C (p.Asn2377His)
c.7126A>C (p.Asn2376His)
c.7081A>C (p.Asn2361His)
n.7746A>C
Xg.77508384T>ACA413703533ATRXc.7446A>T (p.Lys2482Asn)
c.2544A>T (p.Lys848Asn)
c.7332A>T (p.Lys2444Asn)
c.*7074A>T (n.*7074A>T)
n.5766A>T
c.7443A>T (p.Lys2481Asn)
c.7359A>T (p.Lys2453Asn)
c.7329A>T (p.Lys2443Asn)
c.7281A>T (p.Lys2427Asn)
c.7242A>T (p.Lys2414Asn)
c.7167A>T (p.Lys2389Asn)
n.9038A>T
c.7356A>T (p.Lys2452Asn)
c.7326A>T (p.Lys2442Asn)
c.7278A>T (p.Lys2426Asn)
c.7245A>T (p.Lys2415Asn)
c.7215A>T (p.Lys2405Asn)
c.7212A>T (p.Lys2404Asn)
c.7164A>T (p.Lys2388Asn)
c.7128A>T (p.Lys2376Asn)
c.7125A>T (p.Lys2375Asn)
c.7080A>T (p.Lys2360Asn)
n.7745A>T
Xg.77508384T>CCA517373983ATRXc.7446A>G (p.Lys2482=)
c.2544A>G (p.Lys848=)
c.7332A>G (p.Lys2444=)
c.*7074A>G (n.*7074A>G)
n.5766A>G
c.7443A>G (p.Lys2481=)
c.7359A>G (p.Lys2453=)
c.7329A>G (p.Lys2443=)
c.7281A>G (p.Lys2427=)
c.7242A>G (p.Lys2414=)
c.7167A>G (p.Lys2389=)
n.9038A>G
c.7356A>G (p.Lys2452=)
c.7326A>G (p.Lys2442=)
c.7278A>G (p.Lys2426=)
c.7245A>G (p.Lys2415=)
c.7215A>G (p.Lys2405=)
c.7212A>G (p.Lys2404=)
c.7164A>G (p.Lys2388=)
c.7128A>G (p.Lys2376=)
c.7125A>G (p.Lys2375=)
c.7080A>G (p.Lys2360=)
n.7745A>G
Xg.77508384T>GCA413703537ATRXc.7446A>C (p.Lys2482Asn)
c.2544A>C (p.Lys848Asn)
c.7332A>C (p.Lys2444Asn)
c.*7074A>C (n.*7074A>C)
n.5766A>C
c.7443A>C (p.Lys2481Asn)
c.7359A>C (p.Lys2453Asn)
c.7329A>C (p.Lys2443Asn)
c.7281A>C (p.Lys2427Asn)
c.7242A>C (p.Lys2414Asn)
c.7167A>C (p.Lys2389Asn)
n.9038A>C
c.7356A>C (p.Lys2452Asn)
c.7326A>C (p.Lys2442Asn)
c.7278A>C (p.Lys2426Asn)
c.7245A>C (p.Lys2415Asn)
c.7215A>C (p.Lys2405Asn)
c.7212A>C (p.Lys2404Asn)
c.7164A>C (p.Lys2388Asn)
c.7128A>C (p.Lys2376Asn)
c.7125A>C (p.Lys2375Asn)
c.7080A>C (p.Lys2360Asn)
n.7745A>C
Xg.77508385T>ACA413703545ATRXc.7445A>T (p.Lys2482Ile)
c.2543A>T (p.Lys848Ile)
c.7331A>T (p.Lys2444Ile)
c.*7073A>T (n.*7073A>T)
n.5765A>T
c.7442A>T (p.Lys2481Ile)
c.7358A>T (p.Lys2453Ile)
c.7328A>T (p.Lys2443Ile)
c.7280A>T (p.Lys2427Ile)
c.7241A>T (p.Lys2414Ile)
c.7166A>T (p.Lys2389Ile)
n.9037A>T
c.7355A>T (p.Lys2452Ile)
c.7325A>T (p.Lys2442Ile)
c.7277A>T (p.Lys2426Ile)
c.7244A>T (p.Lys2415Ile)
c.7214A>T (p.Lys2405Ile)
c.7211A>T (p.Lys2404Ile)
c.7163A>T (p.Lys2388Ile)
c.7127A>T (p.Lys2376Ile)
c.7124A>T (p.Lys2375Ile)
c.7079A>T (p.Lys2360Ile)
n.7744A>T
Xg.77508385T>CCA413703549ATRXc.7445A>G (p.Lys2482Arg)
c.2543A>G (p.Lys848Arg)
c.7331A>G (p.Lys2444Arg)
c.*7073A>G (n.*7073A>G)
n.5765A>G
c.7442A>G (p.Lys2481Arg)
c.7358A>G (p.Lys2453Arg)
c.7328A>G (p.Lys2443Arg)
c.7280A>G (p.Lys2427Arg)
c.7241A>G (p.Lys2414Arg)
c.7166A>G (p.Lys2389Arg)
n.9037A>G
c.7355A>G (p.Lys2452Arg)
c.7325A>G (p.Lys2442Arg)
c.7277A>G (p.Lys2426Arg)
c.7244A>G (p.Lys2415Arg)
c.7214A>G (p.Lys2405Arg)
c.7211A>G (p.Lys2404Arg)
c.7163A>G (p.Lys2388Arg)
c.7127A>G (p.Lys2376Arg)
c.7124A>G (p.Lys2375Arg)
c.7079A>G (p.Lys2360Arg)
n.7744A>G
 dbSNP
Xg.77508385T>GCA413703542ATRXc.7445A>C (p.Lys2482Thr)
c.2543A>C (p.Lys848Thr)
c.7331A>C (p.Lys2444Thr)
c.*7073A>C (n.*7073A>C)
n.5765A>C
c.7442A>C (p.Lys2481Thr)
c.7358A>C (p.Lys2453Thr)
c.7328A>C (p.Lys2443Thr)
c.7280A>C (p.Lys2427Thr)
c.7241A>C (p.Lys2414Thr)
c.7166A>C (p.Lys2389Thr)
n.9037A>C
c.7355A>C (p.Lys2452Thr)
c.7325A>C (p.Lys2442Thr)
c.7277A>C (p.Lys2426Thr)
c.7244A>C (p.Lys2415Thr)
c.7214A>C (p.Lys2405Thr)
c.7211A>C (p.Lys2404Thr)
c.7163A>C (p.Lys2388Thr)
c.7127A>C (p.Lys2376Thr)
c.7124A>C (p.Lys2375Thr)
c.7079A>C (p.Lys2360Thr)
n.7744A>C
 dbSNP
Xg.77508385T=CA2438929022ATRXc.7445A= (p.Lys2482=)
c.2543A= (p.Lys848=)
c.7331A= (p.Lys2444=)
c.*7073A= (n.*7073A=)
n.5765A=
c.7442A= (p.Lys2481=)
c.7358A= (p.Lys2453=)
c.7328A= (p.Lys2443=)
c.7280A= (p.Lys2427=)
c.7241A= (p.Lys2414=)
c.7166A= (p.Lys2389=)
n.9037A=
c.7355A= (p.Lys2452=)
c.7325A= (p.Lys2442=)
c.7277A= (p.Lys2426=)
c.7244A= (p.Lys2415=)
c.7214A= (p.Lys2405=)
c.7211A= (p.Lys2404=)
c.7163A= (p.Lys2388=)
c.7127A= (p.Lys2376=)
c.7124A= (p.Lys2375=)
c.7079A= (p.Lys2360=)
n.7744A=
Xg.77508386T>ACA413703553ATRXc.7444A>T (p.Lys2482Ter)
c.2542A>T (p.Lys848Ter)
c.7330A>T (p.Lys2444Ter)
c.*7072A>T (n.*7072A>T)
n.5764A>T
c.7441A>T (p.Lys2481Ter)
c.7357A>T (p.Lys2453Ter)
c.7327A>T (p.Lys2443Ter)
c.7279A>T (p.Lys2427Ter)
c.7240A>T (p.Lys2414Ter)
c.7165A>T (p.Lys2389Ter)
n.9036A>T
c.7354A>T (p.Lys2452Ter)
c.7324A>T (p.Lys2442Ter)
c.7276A>T (p.Lys2426Ter)
c.7243A>T (p.Lys2415Ter)
c.7213A>T (p.Lys2405Ter)
c.7210A>T (p.Lys2404Ter)
c.7162A>T (p.Lys2388Ter)
c.7126A>T (p.Lys2376Ter)
c.7123A>T (p.Lys2375Ter)
c.7078A>T (p.Lys2360Ter)
n.7743A>T
Xg.77508386T>CCA413703555ATRXc.7444A>G (p.Lys2482Glu)
c.2542A>G (p.Lys848Glu)
c.7330A>G (p.Lys2444Glu)
c.*7072A>G (n.*7072A>G)
n.5764A>G
c.7441A>G (p.Lys2481Glu)
c.7357A>G (p.Lys2453Glu)
c.7327A>G (p.Lys2443Glu)
c.7279A>G (p.Lys2427Glu)
c.7240A>G (p.Lys2414Glu)
c.7165A>G (p.Lys2389Glu)
n.9036A>G
c.7354A>G (p.Lys2452Glu)
c.7324A>G (p.Lys2442Glu)
c.7276A>G (p.Lys2426Glu)
c.7243A>G (p.Lys2415Glu)
c.7213A>G (p.Lys2405Glu)
c.7210A>G (p.Lys2404Glu)
c.7162A>G (p.Lys2388Glu)
c.7126A>G (p.Lys2376Glu)
c.7123A>G (p.Lys2375Glu)
c.7078A>G (p.Lys2360Glu)
n.7743A>G
Xg.77508386T>GCA413703557ATRXc.7444A>C (p.Lys2482Gln)
c.2542A>C (p.Lys848Gln)
c.7330A>C (p.Lys2444Gln)
c.*7072A>C (n.*7072A>C)
n.5764A>C
c.7441A>C (p.Lys2481Gln)
c.7357A>C (p.Lys2453Gln)
c.7327A>C (p.Lys2443Gln)
c.7279A>C (p.Lys2427Gln)
c.7240A>C (p.Lys2414Gln)
c.7165A>C (p.Lys2389Gln)
n.9036A>C
c.7354A>C (p.Lys2452Gln)
c.7324A>C (p.Lys2442Gln)
c.7276A>C (p.Lys2426Gln)
c.7243A>C (p.Lys2415Gln)
c.7213A>C (p.Lys2405Gln)
c.7210A>C (p.Lys2404Gln)
c.7162A>C (p.Lys2388Gln)
c.7126A>C (p.Lys2376Gln)
c.7123A>C (p.Lys2375Gln)
c.7078A>C (p.Lys2360Gln)
n.7743A>C
Xg.77508387G>ACA517373985ATRXc.7443C>T (p.Ser2481=)
c.2541C>T (p.Ser847=)
c.7329C>T (p.Ser2443=)
c.*7071C>T (n.*7071C>T)
n.5763C>T
c.7440C>T (p.Ser2480=)
c.7356C>T (p.Ser2452=)
c.7326C>T (p.Ser2442=)
c.7278C>T (p.Ser2426=)
c.7239C>T (p.Ser2413=)
c.7164C>T (p.Ser2388=)
n.9035C>T
c.7353C>T (p.Ser2451=)
c.7323C>T (p.Ser2441=)
c.7275C>T (p.Ser2425=)
c.7242C>T (p.Ser2414=)
c.7212C>T (p.Ser2404=)
c.7209C>T (p.Ser2403=)
c.7161C>T (p.Ser2387=)
c.7125C>T (p.Ser2375=)
c.7122C>T (p.Ser2374=)
c.7077C>T (p.Ser2359=)
n.7742C>T
Xg.77508387G>CCA413703560ATRXc.7443C>G (p.Ser2481Arg)
c.2541C>G (p.Ser847Arg)
c.7329C>G (p.Ser2443Arg)
c.*7071C>G (n.*7071C>G)
n.5763C>G
c.7440C>G (p.Ser2480Arg)
c.7356C>G (p.Ser2452Arg)
c.7326C>G (p.Ser2442Arg)
c.7278C>G (p.Ser2426Arg)
c.7239C>G (p.Ser2413Arg)
c.7164C>G (p.Ser2388Arg)
n.9035C>G
c.7353C>G (p.Ser2451Arg)
c.7323C>G (p.Ser2441Arg)
c.7275C>G (p.Ser2425Arg)
c.7242C>G (p.Ser2414Arg)
c.7212C>G (p.Ser2404Arg)
c.7209C>G (p.Ser2403Arg)
c.7161C>G (p.Ser2387Arg)
c.7125C>G (p.Ser2375Arg)
c.7122C>G (p.Ser2374Arg)
c.7077C>G (p.Ser2359Arg)
n.7742C>G
Xg.77508387G>TCA413703565ATRXc.7443C>A (p.Ser2481Arg)
c.2541C>A (p.Ser847Arg)
c.7329C>A (p.Ser2443Arg)
c.*7071C>A (n.*7071C>A)
n.5763C>A
c.7440C>A (p.Ser2480Arg)
c.7356C>A (p.Ser2452Arg)
c.7326C>A (p.Ser2442Arg)
c.7278C>A (p.Ser2426Arg)
c.7239C>A (p.Ser2413Arg)
c.7164C>A (p.Ser2388Arg)
n.9035C>A
c.7353C>A (p.Ser2451Arg)
c.7323C>A (p.Ser2441Arg)
c.7275C>A (p.Ser2425Arg)
c.7242C>A (p.Ser2414Arg)
c.7212C>A (p.Ser2404Arg)
c.7209C>A (p.Ser2403Arg)
c.7161C>A (p.Ser2387Arg)
c.7125C>A (p.Ser2375Arg)
c.7122C>A (p.Ser2374Arg)
c.7077C>A (p.Ser2359Arg)
n.7742C>A
Xg.77508388C>ACA413703567ATRXc.7442G>T (p.Ser2481Ile)
c.2540G>T (p.Ser847Ile)
c.7328G>T (p.Ser2443Ile)
c.*7070G>T (n.*7070G>T)
n.5762G>T
c.7439G>T (p.Ser2480Ile)
c.7355G>T (p.Ser2452Ile)
c.7325G>T (p.Ser2442Ile)
c.7277G>T (p.Ser2426Ile)
c.7238G>T (p.Ser2413Ile)
c.7163G>T (p.Ser2388Ile)
n.9034G>T
c.7352G>T (p.Ser2451Ile)
c.7322G>T (p.Ser2441Ile)
c.7274G>T (p.Ser2425Ile)
c.7241G>T (p.Ser2414Ile)
c.7211G>T (p.Ser2404Ile)
c.7208G>T (p.Ser2403Ile)
c.7160G>T (p.Ser2387Ile)
c.7124G>T (p.Ser2375Ile)
c.7121G>T (p.Ser2374Ile)
c.7076G>T (p.Ser2359Ile)
n.7741G>T
Xg.77508388C>GCA413703568ATRXc.7442G>C (p.Ser2481Thr)
c.2540G>C (p.Ser847Thr)
c.7328G>C (p.Ser2443Thr)
c.*7070G>C (n.*7070G>C)
n.5762G>C
c.7439G>C (p.Ser2480Thr)
c.7355G>C (p.Ser2452Thr)
c.7325G>C (p.Ser2442Thr)
c.7277G>C (p.Ser2426Thr)
c.7238G>C (p.Ser2413Thr)
c.7163G>C (p.Ser2388Thr)
n.9034G>C
c.7352G>C (p.Ser2451Thr)
c.7322G>C (p.Ser2441Thr)
c.7274G>C (p.Ser2425Thr)
c.7241G>C (p.Ser2414Thr)
c.7211G>C (p.Ser2404Thr)
c.7208G>C (p.Ser2403Thr)
c.7160G>C (p.Ser2387Thr)
c.7124G>C (p.Ser2375Thr)
c.7121G>C (p.Ser2374Thr)
c.7076G>C (p.Ser2359Thr)
n.7741G>C
Xg.77508388C>TCA413703569ATRXc.7442G>A (p.Ser2481Asn)
c.2540G>A (p.Ser847Asn)
c.7328G>A (p.Ser2443Asn)
c.*7070G>A (n.*7070G>A)
n.5762G>A
c.7439G>A (p.Ser2480Asn)
c.7355G>A (p.Ser2452Asn)
c.7325G>A (p.Ser2442Asn)
c.7277G>A (p.Ser2426Asn)
c.7238G>A (p.Ser2413Asn)
c.7163G>A (p.Ser2388Asn)
n.9034G>A
c.7352G>A (p.Ser2451Asn)
c.7322G>A (p.Ser2441Asn)
c.7274G>A (p.Ser2425Asn)
c.7241G>A (p.Ser2414Asn)
c.7211G>A (p.Ser2404Asn)
c.7208G>A (p.Ser2403Asn)
c.7160G>A (p.Ser2387Asn)
c.7124G>A (p.Ser2375Asn)
c.7121G>A (p.Ser2374Asn)
c.7076G>A (p.Ser2359Asn)
n.7741G>A
Xg.77508389T>ACA413703572ATRXc.7441A>T (p.Ser2481Cys)
c.2539A>T (p.Ser847Cys)
c.7327A>T (p.Ser2443Cys)
c.*7069A>T (n.*7069A>T)
n.5761A>T
c.7438A>T (p.Ser2480Cys)
c.7354A>T (p.Ser2452Cys)
c.7324A>T (p.Ser2442Cys)
c.7276A>T (p.Ser2426Cys)
c.7237A>T (p.Ser2413Cys)
c.7162A>T (p.Ser2388Cys)
n.9033A>T
c.7351A>T (p.Ser2451Cys)
c.7321A>T (p.Ser2441Cys)
c.7273A>T (p.Ser2425Cys)
c.7240A>T (p.Ser2414Cys)
c.7210A>T (p.Ser2404Cys)
c.7207A>T (p.Ser2403Cys)
c.7159A>T (p.Ser2387Cys)
c.7123A>T (p.Ser2375Cys)
c.7120A>T (p.Ser2374Cys)
c.7075A>T (p.Ser2359Cys)
n.7740A>T
Xg.77508389T>CCA413703578ATRXc.7441A>G (p.Ser2481Gly)
c.2539A>G (p.Ser847Gly)
c.7327A>G (p.Ser2443Gly)
c.*7069A>G (n.*7069A>G)
n.5761A>G
c.7438A>G (p.Ser2480Gly)
c.7354A>G (p.Ser2452Gly)
c.7324A>G (p.Ser2442Gly)
c.7276A>G (p.Ser2426Gly)
c.7237A>G (p.Ser2413Gly)
c.7162A>G (p.Ser2388Gly)
n.9033A>G
c.7351A>G (p.Ser2451Gly)
c.7321A>G (p.Ser2441Gly)
c.7273A>G (p.Ser2425Gly)
c.7240A>G (p.Ser2414Gly)
c.7210A>G (p.Ser2404Gly)
c.7207A>G (p.Ser2403Gly)
c.7159A>G (p.Ser2387Gly)
c.7123A>G (p.Ser2375Gly)
c.7120A>G (p.Ser2374Gly)
c.7075A>G (p.Ser2359Gly)
n.7740A>G
Xg.77508389T>GCA413703580ATRXc.7441A>C (p.Ser2481Arg)
c.2539A>C (p.Ser847Arg)
c.7327A>C (p.Ser2443Arg)
c.*7069A>C (n.*7069A>C)
n.5761A>C
c.7438A>C (p.Ser2480Arg)
c.7354A>C (p.Ser2452Arg)
c.7324A>C (p.Ser2442Arg)
c.7276A>C (p.Ser2426Arg)
c.7237A>C (p.Ser2413Arg)
c.7162A>C (p.Ser2388Arg)
n.9033A>C
c.7351A>C (p.Ser2451Arg)
c.7321A>C (p.Ser2441Arg)
c.7273A>C (p.Ser2425Arg)
c.7240A>C (p.Ser2414Arg)
c.7210A>C (p.Ser2404Arg)
c.7207A>C (p.Ser2403Arg)
c.7159A>C (p.Ser2387Arg)
c.7123A>C (p.Ser2375Arg)
c.7120A>C (p.Ser2374Arg)
c.7075A>C (p.Ser2359Arg)
n.7740A>C
Xg.77508390T>ACA413703584ATRXc.7440A>T (p.Arg2480Ser)
c.2538A>T (p.Arg846Ser)
c.7326A>T (p.Arg2442Ser)
c.*7068A>T (n.*7068A>T)
n.5760A>T
c.7437A>T (p.Arg2479Ser)
c.7353A>T (p.Arg2451Ser)
c.7323A>T (p.Arg2441Ser)
c.7275A>T (p.Arg2425Ser)
c.7236A>T (p.Arg2412Ser)
c.7161A>T (p.Arg2387Ser)
n.9032A>T
c.7350A>T (p.Arg2450Ser)
c.7320A>T (p.Arg2440Ser)
c.7272A>T (p.Arg2424Ser)
c.7239A>T (p.Arg2413Ser)
c.7209A>T (p.Arg2403Ser)
c.7206A>T (p.Arg2402Ser)
c.7158A>T (p.Arg2386Ser)
c.7122A>T (p.Arg2374Ser)
c.7119A>T (p.Arg2373Ser)
c.7074A>T (p.Arg2358Ser)
n.7739A>T
Xg.77508390T>CCA517373989ATRXc.7440A>G (p.Arg2480=)
c.2538A>G (p.Arg846=)
c.7326A>G (p.Arg2442=)
c.*7068A>G (n.*7068A>G)
n.5760A>G
c.7437A>G (p.Arg2479=)
c.7353A>G (p.Arg2451=)
c.7323A>G (p.Arg2441=)
c.7275A>G (p.Arg2425=)
c.7236A>G (p.Arg2412=)
c.7161A>G (p.Arg2387=)
n.9032A>G
c.7350A>G (p.Arg2450=)
c.7320A>G (p.Arg2440=)
c.7272A>G (p.Arg2424=)
c.7239A>G (p.Arg2413=)
c.7209A>G (p.Arg2403=)
c.7206A>G (p.Arg2402=)
c.7158A>G (p.Arg2386=)
c.7122A>G (p.Arg2374=)
c.7119A>G (p.Arg2373=)
c.7074A>G (p.Arg2358=)
n.7739A>G
Xg.77508390T>GCA413703586ATRXc.7440A>C (p.Arg2480Ser)
c.2538A>C (p.Arg846Ser)
c.7326A>C (p.Arg2442Ser)
c.*7068A>C (n.*7068A>C)
n.5760A>C
c.7437A>C (p.Arg2479Ser)
c.7353A>C (p.Arg2451Ser)
c.7323A>C (p.Arg2441Ser)
c.7275A>C (p.Arg2425Ser)
c.7236A>C (p.Arg2412Ser)
c.7161A>C (p.Arg2387Ser)
n.9032A>C
c.7350A>C (p.Arg2450Ser)
c.7320A>C (p.Arg2440Ser)
c.7272A>C (p.Arg2424Ser)
c.7239A>C (p.Arg2413Ser)
c.7209A>C (p.Arg2403Ser)
c.7206A>C (p.Arg2402Ser)
c.7158A>C (p.Arg2386Ser)
c.7122A>C (p.Arg2374Ser)
c.7119A>C (p.Arg2373Ser)
c.7074A>C (p.Arg2358Ser)
n.7739A>C
Xg.77508391C>ACA413703599ATRXc.7439G>T (p.Arg2480Ile)
c.2537G>T (p.Arg846Ile)
c.7325G>T (p.Arg2442Ile)
c.*7067G>T (n.*7067G>T)
n.5759G>T
c.7436G>T (p.Arg2479Ile)
c.7352G>T (p.Arg2451Ile)
c.7322G>T (p.Arg2441Ile)
c.7274G>T (p.Arg2425Ile)
c.7235G>T (p.Arg2412Ile)
c.7160G>T (p.Arg2387Ile)
n.9031G>T
c.7349G>T (p.Arg2450Ile)
c.7319G>T (p.Arg2440Ile)
c.7271G>T (p.Arg2424Ile)
c.7238G>T (p.Arg2413Ile)
c.7208G>T (p.Arg2403Ile)
c.7205G>T (p.Arg2402Ile)
c.7157G>T (p.Arg2386Ile)
c.7121G>T (p.Arg2374Ile)
c.7118G>T (p.Arg2373Ile)
c.7073G>T (p.Arg2358Ile)
n.7738G>T
Xg.77508391C=CA2438929023ATRXc.7439G= (p.Arg2480=)
c.2537G= (p.Arg846=)
c.7325G= (p.Arg2442=)
c.*7067G= (n.*7067G=)
n.5759G=
c.7436G= (p.Arg2479=)
c.7352G= (p.Arg2451=)
c.7322G= (p.Arg2441=)
c.7274G= (p.Arg2425=)
c.7235G= (p.Arg2412=)
c.7160G= (p.Arg2387=)
n.9031G=
c.7349G= (p.Arg2450=)
c.7319G= (p.Arg2440=)
c.7271G= (p.Arg2424=)
c.7238G= (p.Arg2413=)
c.7208G= (p.Arg2403=)
c.7205G= (p.Arg2402=)
c.7157G= (p.Arg2386=)
c.7121G= (p.Arg2374=)
c.7118G= (p.Arg2373=)
c.7073G= (p.Arg2358=)
n.7738G=
Xg.77508391C>GCA413703596ATRXc.7439G>C (p.Arg2480Thr)
c.2537G>C (p.Arg846Thr)
c.7325G>C (p.Arg2442Thr)
c.*7067G>C (n.*7067G>C)
n.5759G>C
c.7436G>C (p.Arg2479Thr)
c.7352G>C (p.Arg2451Thr)
c.7322G>C (p.Arg2441Thr)
c.7274G>C (p.Arg2425Thr)
c.7235G>C (p.Arg2412Thr)
c.7160G>C (p.Arg2387Thr)
n.9031G>C
c.7349G>C (p.Arg2450Thr)
c.7319G>C (p.Arg2440Thr)
c.7271G>C (p.Arg2424Thr)
c.7238G>C (p.Arg2413Thr)
c.7208G>C (p.Arg2403Thr)
c.7205G>C (p.Arg2402Thr)
c.7157G>C (p.Arg2386Thr)
c.7121G>C (p.Arg2374Thr)
c.7118G>C (p.Arg2373Thr)
c.7073G>C (p.Arg2358Thr)
n.7738G>C
Xg.77508391C>TCA10457375ATRXc.7439G>A (p.Arg2480Lys)
c.2537G>A (p.Arg846Lys)
c.7325G>A (p.Arg2442Lys)
c.*7067G>A (n.*7067G>A)
n.5759G>A
c.7436G>A (p.Arg2479Lys)
c.7352G>A (p.Arg2451Lys)
c.7322G>A (p.Arg2441Lys)
c.7274G>A (p.Arg2425Lys)
c.7235G>A (p.Arg2412Lys)
c.7160G>A (p.Arg2387Lys)
n.9031G>A
c.7349G>A (p.Arg2450Lys)
c.7319G>A (p.Arg2440Lys)
c.7271G>A (p.Arg2424Lys)
c.7238G>A (p.Arg2413Lys)
c.7208G>A (p.Arg2403Lys)
c.7205G>A (p.Arg2402Lys)
c.7157G>A (p.Arg2386Lys)
c.7121G>A (p.Arg2374Lys)
c.7118G>A (p.Arg2373Lys)
c.7073G>A (p.Arg2358Lys)
n.7738G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508392T>ACA413703602ATRXc.7438A>T (p.Arg2480Ter)
c.2536A>T (p.Arg846Ter)
c.7324A>T (p.Arg2442Ter)
c.*7066A>T (n.*7066A>T)
n.5758A>T
c.7435A>T (p.Arg2479Ter)
c.7351A>T (p.Arg2451Ter)
c.7321A>T (p.Arg2441Ter)
c.7273A>T (p.Arg2425Ter)
c.7234A>T (p.Arg2412Ter)
c.7159A>T (p.Arg2387Ter)
n.9030A>T
c.7348A>T (p.Arg2450Ter)
c.7318A>T (p.Arg2440Ter)
c.7270A>T (p.Arg2424Ter)
c.7237A>T (p.Arg2413Ter)
c.7207A>T (p.Arg2403Ter)
c.7204A>T (p.Arg2402Ter)
c.7156A>T (p.Arg2386Ter)
c.7120A>T (p.Arg2374Ter)
c.7117A>T (p.Arg2373Ter)
c.7072A>T (p.Arg2358Ter)
n.7737A>T
Xg.77508392T>CCA413703604ATRXc.7438A>G (p.Arg2480Gly)
c.2536A>G (p.Arg846Gly)
c.7324A>G (p.Arg2442Gly)
c.*7066A>G (n.*7066A>G)
n.5758A>G
c.7435A>G (p.Arg2479Gly)
c.7351A>G (p.Arg2451Gly)
c.7321A>G (p.Arg2441Gly)
c.7273A>G (p.Arg2425Gly)
c.7234A>G (p.Arg2412Gly)
c.7159A>G (p.Arg2387Gly)
n.9030A>G
c.7348A>G (p.Arg2450Gly)
c.7318A>G (p.Arg2440Gly)
c.7270A>G (p.Arg2424Gly)
c.7237A>G (p.Arg2413Gly)
c.7207A>G (p.Arg2403Gly)
c.7204A>G (p.Arg2402Gly)
c.7156A>G (p.Arg2386Gly)
c.7120A>G (p.Arg2374Gly)
c.7117A>G (p.Arg2373Gly)
c.7072A>G (p.Arg2358Gly)
n.7737A>G
Xg.77508392T>GCA517373991ATRXc.7438A>C (p.Arg2480=)
c.2536A>C (p.Arg846=)
c.7324A>C (p.Arg2442=)
c.*7066A>C (n.*7066A>C)
n.5758A>C
c.7435A>C (p.Arg2479=)
c.7351A>C (p.Arg2451=)
c.7321A>C (p.Arg2441=)
c.7273A>C (p.Arg2425=)
c.7234A>C (p.Arg2412=)
c.7159A>C (p.Arg2387=)
n.9030A>C
c.7348A>C (p.Arg2450=)
c.7318A>C (p.Arg2440=)
c.7270A>C (p.Arg2424=)
c.7237A>C (p.Arg2413=)
c.7207A>C (p.Arg2403=)
c.7204A>C (p.Arg2402=)
c.7156A>C (p.Arg2386=)
c.7120A>C (p.Arg2374=)
c.7117A>C (p.Arg2373=)
c.7072A>C (p.Arg2358=)
n.7737A>C
Xg.77508393C>ACA413703607ATRXc.7437G>T (p.Met2479Ile)
c.2535G>T (p.Met845Ile)
c.7323G>T (p.Met2441Ile)
c.*7065G>T (n.*7065G>T)
n.5757G>T
c.7434G>T (p.Met2478Ile)
c.7350G>T (p.Met2450Ile)
c.7320G>T (p.Met2440Ile)
c.7272G>T (p.Met2424Ile)
c.7233G>T (p.Met2411Ile)
c.7158G>T (p.Met2386Ile)
n.9029G>T
c.7347G>T (p.Met2449Ile)
c.7317G>T (p.Met2439Ile)
c.7269G>T (p.Met2423Ile)
c.7236G>T (p.Met2412Ile)
c.7206G>T (p.Met2402Ile)
c.7203G>T (p.Met2401Ile)
c.7155G>T (p.Met2385Ile)
c.7119G>T (p.Met2373Ile)
c.7116G>T (p.Met2372Ile)
c.7071G>T (p.Met2357Ile)
n.7736G>T
 dbSNP
Xg.77508393C>GCA413703614ATRXc.7437G>C (p.Met2479Ile)
c.2535G>C (p.Met845Ile)
c.7323G>C (p.Met2441Ile)
c.*7065G>C (n.*7065G>C)
n.5757G>C
c.7434G>C (p.Met2478Ile)
c.7350G>C (p.Met2450Ile)
c.7320G>C (p.Met2440Ile)
c.7272G>C (p.Met2424Ile)
c.7233G>C (p.Met2411Ile)
c.7158G>C (p.Met2386Ile)
n.9029G>C
c.7347G>C (p.Met2449Ile)
c.7317G>C (p.Met2439Ile)
c.7269G>C (p.Met2423Ile)
c.7236G>C (p.Met2412Ile)
c.7206G>C (p.Met2402Ile)
c.7203G>C (p.Met2401Ile)
c.7155G>C (p.Met2385Ile)
c.7119G>C (p.Met2373Ile)
c.7116G>C (p.Met2372Ile)
c.7071G>C (p.Met2357Ile)
n.7736G>C
Xg.77508393C>TCA413703616ATRXc.7437G>A (p.Met2479Ile)
c.2535G>A (p.Met845Ile)
c.7323G>A (p.Met2441Ile)
c.*7065G>A (n.*7065G>A)
n.5757G>A
c.7434G>A (p.Met2478Ile)
c.7350G>A (p.Met2450Ile)
c.7320G>A (p.Met2440Ile)
c.7272G>A (p.Met2424Ile)
c.7233G>A (p.Met2411Ile)
c.7158G>A (p.Met2386Ile)
n.9029G>A
c.7347G>A (p.Met2449Ile)
c.7317G>A (p.Met2439Ile)
c.7269G>A (p.Met2423Ile)
c.7236G>A (p.Met2412Ile)
c.7206G>A (p.Met2402Ile)
c.7203G>A (p.Met2401Ile)
c.7155G>A (p.Met2385Ile)
c.7119G>A (p.Met2373Ile)
c.7116G>A (p.Met2372Ile)
c.7071G>A (p.Met2357Ile)
n.7736G>A
Xg.77508394A>CCA413703622ATRXc.7436T>G (p.Met2479Arg)
c.2534T>G (p.Met845Arg)
c.7322T>G (p.Met2441Arg)
c.*7064T>G (n.*7064T>G)
n.5756T>G
c.7433T>G (p.Met2478Arg)
c.7349T>G (p.Met2450Arg)
c.7319T>G (p.Met2440Arg)
c.7271T>G (p.Met2424Arg)
c.7232T>G (p.Met2411Arg)
c.7157T>G (p.Met2386Arg)
n.9028T>G
c.7346T>G (p.Met2449Arg)
c.7316T>G (p.Met2439Arg)
c.7268T>G (p.Met2423Arg)
c.7235T>G (p.Met2412Arg)
c.7205T>G (p.Met2402Arg)
c.7202T>G (p.Met2401Arg)
c.7154T>G (p.Met2385Arg)
c.7118T>G (p.Met2373Arg)
c.7115T>G (p.Met2372Arg)
c.7070T>G (p.Met2357Arg)
n.7735T>G
Xg.77508394A>GCA413703629ATRXc.7436T>C (p.Met2479Thr)
c.2534T>C (p.Met845Thr)
c.7322T>C (p.Met2441Thr)
c.*7064T>C (n.*7064T>C)
n.5756T>C
c.7433T>C (p.Met2478Thr)
c.7349T>C (p.Met2450Thr)
c.7319T>C (p.Met2440Thr)
c.7271T>C (p.Met2424Thr)
c.7232T>C (p.Met2411Thr)
c.7157T>C (p.Met2386Thr)
n.9028T>C
c.7346T>C (p.Met2449Thr)
c.7316T>C (p.Met2439Thr)
c.7268T>C (p.Met2423Thr)
c.7235T>C (p.Met2412Thr)
c.7205T>C (p.Met2402Thr)
c.7202T>C (p.Met2401Thr)
c.7154T>C (p.Met2385Thr)
c.7118T>C (p.Met2373Thr)
c.7115T>C (p.Met2372Thr)
c.7070T>C (p.Met2357Thr)
n.7735T>C
 ClinVar
Xg.77508394A>TCA413703632ATRXc.7436T>A (p.Met2479Lys)
c.2534T>A (p.Met845Lys)
c.7322T>A (p.Met2441Lys)
c.*7064T>A (n.*7064T>A)
n.5756T>A
c.7433T>A (p.Met2478Lys)
c.7349T>A (p.Met2450Lys)
c.7319T>A (p.Met2440Lys)
c.7271T>A (p.Met2424Lys)
c.7232T>A (p.Met2411Lys)
c.7157T>A (p.Met2386Lys)
n.9028T>A
c.7346T>A (p.Met2449Lys)
c.7316T>A (p.Met2439Lys)
c.7268T>A (p.Met2423Lys)
c.7235T>A (p.Met2412Lys)
c.7205T>A (p.Met2402Lys)
c.7202T>A (p.Met2401Lys)
c.7154T>A (p.Met2385Lys)
c.7118T>A (p.Met2373Lys)
c.7115T>A (p.Met2372Lys)
c.7070T>A (p.Met2357Lys)
n.7735T>A
Xg.77508395T>ACA413703638ATRXc.7435A>T (p.Met2479Leu)
c.2533A>T (p.Met845Leu)
c.7321A>T (p.Met2441Leu)
c.*7063A>T (n.*7063A>T)
n.5755A>T
c.7432A>T (p.Met2478Leu)
c.7348A>T (p.Met2450Leu)
c.7318A>T (p.Met2440Leu)
c.7270A>T (p.Met2424Leu)
c.7231A>T (p.Met2411Leu)
c.7156A>T (p.Met2386Leu)
n.9027A>T
c.7345A>T (p.Met2449Leu)
c.7315A>T (p.Met2439Leu)
c.7267A>T (p.Met2423Leu)
c.7234A>T (p.Met2412Leu)
c.7204A>T (p.Met2402Leu)
c.7201A>T (p.Met2401Leu)
c.7153A>T (p.Met2385Leu)
c.7117A>T (p.Met2373Leu)
c.7114A>T (p.Met2372Leu)
c.7069A>T (p.Met2357Leu)
n.7734A>T
Xg.77508395T>CCA10457376ATRXc.7435A>G (p.Met2479Val)
c.2533A>G (p.Met845Val)
c.7321A>G (p.Met2441Val)
c.*7063A>G (n.*7063A>G)
n.5755A>G
c.7432A>G (p.Met2478Val)
c.7348A>G (p.Met2450Val)
c.7318A>G (p.Met2440Val)
c.7270A>G (p.Met2424Val)
c.7231A>G (p.Met2411Val)
c.7156A>G (p.Met2386Val)
n.9027A>G
c.7345A>G (p.Met2449Val)
c.7315A>G (p.Met2439Val)
c.7267A>G (p.Met2423Val)
c.7234A>G (p.Met2412Val)
c.7204A>G (p.Met2402Val)
c.7201A>G (p.Met2401Val)
c.7153A>G (p.Met2385Val)
c.7117A>G (p.Met2373Val)
c.7114A>G (p.Met2372Val)
c.7069A>G (p.Met2357Val)
n.7734A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508395T>GCA413703644ATRXc.7435A>C (p.Met2479Leu)
c.2533A>C (p.Met845Leu)
c.7321A>C (p.Met2441Leu)
c.*7063A>C (n.*7063A>C)
n.5755A>C
c.7432A>C (p.Met2478Leu)
c.7348A>C (p.Met2450Leu)
c.7318A>C (p.Met2440Leu)
c.7270A>C (p.Met2424Leu)
c.7231A>C (p.Met2411Leu)
c.7156A>C (p.Met2386Leu)
n.9027A>C
c.7345A>C (p.Met2449Leu)
c.7315A>C (p.Met2439Leu)
c.7267A>C (p.Met2423Leu)
c.7234A>C (p.Met2412Leu)
c.7204A>C (p.Met2402Leu)
c.7201A>C (p.Met2401Leu)
c.7153A>C (p.Met2385Leu)
c.7117A>C (p.Met2373Leu)
c.7114A>C (p.Met2372Leu)
c.7069A>C (p.Met2357Leu)
n.7734A>C
Xg.77508395T=CA2438929024ATRXc.7435A= (p.Met2479=)
c.2533A= (p.Met845=)
c.7321A= (p.Met2441=)
c.*7063A= (n.*7063A=)
n.5755A=
c.7432A= (p.Met2478=)
c.7348A= (p.Met2450=)
c.7318A= (p.Met2440=)
c.7270A= (p.Met2424=)
c.7231A= (p.Met2411=)
c.7156A= (p.Met2386=)
n.9027A=
c.7345A= (p.Met2449=)
c.7315A= (p.Met2439=)
c.7267A= (p.Met2423=)
c.7234A= (p.Met2412=)
c.7204A= (p.Met2402=)
c.7201A= (p.Met2401=)
c.7153A= (p.Met2385=)
c.7117A= (p.Met2373=)
c.7114A= (p.Met2372=)
c.7069A= (p.Met2357=)
n.7734A=
Xg.77508396T>ACA517373995ATRXc.7434A>T (p.Pro2478=)
c.2532A>T (p.Pro844=)
c.7320A>T (p.Pro2440=)
c.*7062A>T (n.*7062A>T)
n.5754A>T
c.7431A>T (p.Pro2477=)
c.7347A>T (p.Pro2449=)
c.7317A>T (p.Pro2439=)
c.7269A>T (p.Pro2423=)
c.7230A>T (p.Pro2410=)
c.7155A>T (p.Pro2385=)
n.9026A>T
c.7344A>T (p.Pro2448=)
c.7314A>T (p.Pro2438=)
c.7266A>T (p.Pro2422=)
c.7233A>T (p.Pro2411=)
c.7203A>T (p.Pro2401=)
c.7200A>T (p.Pro2400=)
c.7152A>T (p.Pro2384=)
c.7116A>T (p.Pro2372=)
c.7113A>T (p.Pro2371=)
c.7068A>T (p.Pro2356=)
n.7733A>T
Xg.77508396T>CCA517373996ATRXc.7434A>G (p.Pro2478=)
c.2532A>G (p.Pro844=)
c.7320A>G (p.Pro2440=)
c.*7062A>G (n.*7062A>G)
n.5754A>G
c.7431A>G (p.Pro2477=)
c.7347A>G (p.Pro2449=)
c.7317A>G (p.Pro2439=)
c.7269A>G (p.Pro2423=)
c.7230A>G (p.Pro2410=)
c.7155A>G (p.Pro2385=)
n.9026A>G
c.7344A>G (p.Pro2448=)
c.7314A>G (p.Pro2438=)
c.7266A>G (p.Pro2422=)
c.7233A>G (p.Pro2411=)
c.7203A>G (p.Pro2401=)
c.7200A>G (p.Pro2400=)
c.7152A>G (p.Pro2384=)
c.7116A>G (p.Pro2372=)
c.7113A>G (p.Pro2371=)
c.7068A>G (p.Pro2356=)
n.7733A>G
Xg.77508396T>GCA517373997ATRXc.7434A>C (p.Pro2478=)
c.2532A>C (p.Pro844=)
c.7320A>C (p.Pro2440=)
c.*7062A>C (n.*7062A>C)
n.5754A>C
c.7431A>C (p.Pro2477=)
c.7347A>C (p.Pro2449=)
c.7317A>C (p.Pro2439=)
c.7269A>C (p.Pro2423=)
c.7230A>C (p.Pro2410=)
c.7155A>C (p.Pro2385=)
n.9026A>C
c.7344A>C (p.Pro2448=)
c.7314A>C (p.Pro2438=)
c.7266A>C (p.Pro2422=)
c.7233A>C (p.Pro2411=)
c.7203A>C (p.Pro2401=)
c.7200A>C (p.Pro2400=)
c.7152A>C (p.Pro2384=)
c.7116A>C (p.Pro2372=)
c.7113A>C (p.Pro2371=)
c.7068A>C (p.Pro2356=)
n.7733A>C
 dbSNP gnomAD v2
Xg.77508396T=CA2438929025ATRXc.7434A= (p.Pro2478=)
c.2532A= (p.Pro844=)
c.7320A= (p.Pro2440=)
c.*7062A= (n.*7062A=)
n.5754A=
c.7431A= (p.Pro2477=)
c.7347A= (p.Pro2449=)
c.7317A= (p.Pro2439=)
c.7269A= (p.Pro2423=)
c.7230A= (p.Pro2410=)
c.7155A= (p.Pro2385=)
n.9026A=
c.7344A= (p.Pro2448=)
c.7314A= (p.Pro2438=)
c.7266A= (p.Pro2422=)
c.7233A= (p.Pro2411=)
c.7203A= (p.Pro2401=)
c.7200A= (p.Pro2400=)
c.7152A= (p.Pro2384=)
c.7116A= (p.Pro2372=)
c.7113A= (p.Pro2371=)
c.7068A= (p.Pro2356=)
n.7733A=
Xg.77508397G>ACA413703647ATRXc.7433C>T (p.Pro2478Leu)
c.2531C>T (p.Pro844Leu)
c.7319C>T (p.Pro2440Leu)
c.*7061C>T (n.*7061C>T)
n.5753C>T
c.7430C>T (p.Pro2477Leu)
c.7346C>T (p.Pro2449Leu)
c.7316C>T (p.Pro2439Leu)
c.7268C>T (p.Pro2423Leu)
c.7229C>T (p.Pro2410Leu)
c.7154C>T (p.Pro2385Leu)
n.9025C>T
c.7343C>T (p.Pro2448Leu)
c.7313C>T (p.Pro2438Leu)
c.7265C>T (p.Pro2422Leu)
c.7232C>T (p.Pro2411Leu)
c.7202C>T (p.Pro2401Leu)
c.7199C>T (p.Pro2400Leu)
c.7151C>T (p.Pro2384Leu)
c.7115C>T (p.Pro2372Leu)
c.7112C>T (p.Pro2371Leu)
c.7067C>T (p.Pro2356Leu)
n.7732C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.77508397G>CCA413703653ATRXc.7433C>G (p.Pro2478Arg)
c.2531C>G (p.Pro844Arg)
c.7319C>G (p.Pro2440Arg)
c.*7061C>G (n.*7061C>G)
n.5753C>G
c.7430C>G (p.Pro2477Arg)
c.7346C>G (p.Pro2449Arg)
c.7316C>G (p.Pro2439Arg)
c.7268C>G (p.Pro2423Arg)
c.7229C>G (p.Pro2410Arg)
c.7154C>G (p.Pro2385Arg)
n.9025C>G
c.7343C>G (p.Pro2448Arg)
c.7313C>G (p.Pro2438Arg)
c.7265C>G (p.Pro2422Arg)
c.7232C>G (p.Pro2411Arg)
c.7202C>G (p.Pro2401Arg)
c.7199C>G (p.Pro2400Arg)
c.7151C>G (p.Pro2384Arg)
c.7115C>G (p.Pro2372Arg)
c.7112C>G (p.Pro2371Arg)
c.7067C>G (p.Pro2356Arg)
n.7732C>G
Xg.77508397G=CA2438929026ATRXc.7433C= (p.Pro2478=)
c.2531C= (p.Pro844=)
c.7319C= (p.Pro2440=)
c.*7061C= (n.*7061C=)
n.5753C=
c.7430C= (p.Pro2477=)
c.7346C= (p.Pro2449=)
c.7316C= (p.Pro2439=)
c.7268C= (p.Pro2423=)
c.7229C= (p.Pro2410=)
c.7154C= (p.Pro2385=)
n.9025C=
c.7343C= (p.Pro2448=)
c.7313C= (p.Pro2438=)
c.7265C= (p.Pro2422=)
c.7232C= (p.Pro2411=)
c.7202C= (p.Pro2401=)
c.7199C= (p.Pro2400=)
c.7151C= (p.Pro2384=)
c.7115C= (p.Pro2372=)
c.7112C= (p.Pro2371=)
c.7067C= (p.Pro2356=)
n.7732C=
Xg.77508397G>TCA413703656ATRXc.7433C>A (p.Pro2478Gln)
c.2531C>A (p.Pro844Gln)
c.7319C>A (p.Pro2440Gln)
c.*7061C>A (n.*7061C>A)
n.5753C>A
c.7430C>A (p.Pro2477Gln)
c.7346C>A (p.Pro2449Gln)
c.7316C>A (p.Pro2439Gln)
c.7268C>A (p.Pro2423Gln)
c.7229C>A (p.Pro2410Gln)
c.7154C>A (p.Pro2385Gln)
n.9025C>A
c.7343C>A (p.Pro2448Gln)
c.7313C>A (p.Pro2438Gln)
c.7265C>A (p.Pro2422Gln)
c.7232C>A (p.Pro2411Gln)
c.7202C>A (p.Pro2401Gln)
c.7199C>A (p.Pro2400Gln)
c.7151C>A (p.Pro2384Gln)
c.7115C>A (p.Pro2372Gln)
c.7112C>A (p.Pro2371Gln)
c.7067C>A (p.Pro2356Gln)
n.7732C>A
Xg.77508401dupCA2555169002ATRXc.7433dup (p.Met2479AsnfsTer19)
c.2531dup (p.Met845AsnfsTer19)
c.7319dup (p.Met2441AsnfsTer19)
c.*7061dup (n.*7061dup)
n.5753dup
c.7430dup (p.Met2478AsnfsTer19)
c.7346dup (p.Met2450AsnfsTer19)
c.7316dup (p.Met2440AsnfsTer19)
c.7268dup (p.Met2424AsnfsTer19)
c.7229dup (p.Met2411AsnfsTer19)
c.7154dup (p.Met2386AsnfsTer19)
n.9025dup
c.7343dup (p.Met2449AsnfsTer19)
c.7313dup (p.Met2439AsnfsTer19)
c.7265dup (p.Met2423AsnfsTer19)
c.7232dup (p.Met2412AsnfsTer19)
c.7202dup (p.Met2402AsnfsTer19)
c.7199dup (p.Met2401AsnfsTer19)
c.7151dup (p.Met2385AsnfsTer19)
c.7115dup (p.Met2373AsnfsTer19)
c.7112dup (p.Met2372AsnfsTer19)
c.7067dup (p.Met2357AsnfsTer19)
n.7732dup
Xg.77508401delCA2520397795ATRXc.7433del (p.Pro2478GlnfsTer2)
c.2531del (p.Pro844GlnfsTer2)
c.7319del (p.Pro2440GlnfsTer2)
c.*7061del (n.*7061del)
n.5753del
c.7430del (p.Pro2477GlnfsTer2)
c.7346del (p.Pro2449GlnfsTer2)
c.7316del (p.Pro2439GlnfsTer2)
c.7268del (p.Pro2423GlnfsTer2)
c.7229del (p.Pro2410GlnfsTer2)
c.7154del (p.Pro2385GlnfsTer2)
n.9025del
c.7343del (p.Pro2448GlnfsTer2)
c.7313del (p.Pro2438GlnfsTer2)
c.7265del (p.Pro2422GlnfsTer2)
c.7232del (p.Pro2411GlnfsTer2)
c.7202del (p.Pro2401GlnfsTer2)
c.7199del (p.Pro2400GlnfsTer2)
c.7151del (p.Pro2384GlnfsTer2)
c.7115del (p.Pro2372GlnfsTer2)
c.7112del (p.Pro2371GlnfsTer2)
c.7067del (p.Pro2356GlnfsTer2)
n.7732del
 dbSNP
Xg.77508398G>ACA10457378ATRXc.7432C>T (p.Pro2478Ser)
c.2530C>T (p.Pro844Ser)
c.7318C>T (p.Pro2440Ser)
c.*7060C>T (n.*7060C>T)
n.5752C>T
c.7429C>T (p.Pro2477Ser)
c.7345C>T (p.Pro2449Ser)
c.7315C>T (p.Pro2439Ser)
c.7267C>T (p.Pro2423Ser)
c.7228C>T (p.Pro2410Ser)
c.7153C>T (p.Pro2385Ser)
n.9024C>T
c.7342C>T (p.Pro2448Ser)
c.7312C>T (p.Pro2438Ser)
c.7264C>T (p.Pro2422Ser)
c.7231C>T (p.Pro2411Ser)
c.7201C>T (p.Pro2401Ser)
c.7198C>T (p.Pro2400Ser)
c.7150C>T (p.Pro2384Ser)
c.7114C>T (p.Pro2372Ser)
c.7111C>T (p.Pro2371Ser)
c.7066C>T (p.Pro2356Ser)
n.7731C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508398G>CCA10457377ATRXc.7432C>G (p.Pro2478Ala)
c.2530C>G (p.Pro844Ala)
c.7318C>G (p.Pro2440Ala)
c.*7060C>G (n.*7060C>G)
n.5752C>G
c.7429C>G (p.Pro2477Ala)
c.7345C>G (p.Pro2449Ala)
c.7315C>G (p.Pro2439Ala)
c.7267C>G (p.Pro2423Ala)
c.7228C>G (p.Pro2410Ala)
c.7153C>G (p.Pro2385Ala)
n.9024C>G
c.7342C>G (p.Pro2448Ala)
c.7312C>G (p.Pro2438Ala)
c.7264C>G (p.Pro2422Ala)
c.7231C>G (p.Pro2411Ala)
c.7201C>G (p.Pro2401Ala)
c.7198C>G (p.Pro2400Ala)
c.7150C>G (p.Pro2384Ala)
c.7114C>G (p.Pro2372Ala)
c.7111C>G (p.Pro2371Ala)
c.7066C>G (p.Pro2356Ala)
n.7731C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508398G=CA2438929027ATRXc.7432C= (p.Pro2478=)
c.2530C= (p.Pro844=)
c.7318C= (p.Pro2440=)
c.*7060C= (n.*7060C=)
n.5752C=
c.7429C= (p.Pro2477=)
c.7345C= (p.Pro2449=)
c.7315C= (p.Pro2439=)
c.7267C= (p.Pro2423=)
c.7228C= (p.Pro2410=)
c.7153C= (p.Pro2385=)
n.9024C=
c.7342C= (p.Pro2448=)
c.7312C= (p.Pro2438=)
c.7264C= (p.Pro2422=)
c.7231C= (p.Pro2411=)
c.7201C= (p.Pro2401=)
c.7198C= (p.Pro2400=)
c.7150C= (p.Pro2384=)
c.7114C= (p.Pro2372=)
c.7111C= (p.Pro2371=)
c.7066C= (p.Pro2356=)
n.7731C=
Xg.77508398G>TCA413703661ATRXc.7432C>A (p.Pro2478Thr)
c.2530C>A (p.Pro844Thr)
c.7318C>A (p.Pro2440Thr)
c.*7060C>A (n.*7060C>A)
n.5752C>A
c.7429C>A (p.Pro2477Thr)
c.7345C>A (p.Pro2449Thr)
c.7315C>A (p.Pro2439Thr)
c.7267C>A (p.Pro2423Thr)
c.7228C>A (p.Pro2410Thr)
c.7153C>A (p.Pro2385Thr)
n.9024C>A
c.7342C>A (p.Pro2448Thr)
c.7312C>A (p.Pro2438Thr)
c.7264C>A (p.Pro2422Thr)
c.7231C>A (p.Pro2411Thr)
c.7201C>A (p.Pro2401Thr)
c.7198C>A (p.Pro2400Thr)
c.7150C>A (p.Pro2384Thr)
c.7114C>A (p.Pro2372Thr)
c.7111C>A (p.Pro2371Thr)
c.7066C>A (p.Pro2356Thr)
n.7731C>A
 dbSNP
Xg.77508399G>ACA517374000ATRXc.7431C>T (p.Pro2477=)
c.2529C>T (p.Pro843=)
c.7317C>T (p.Pro2439=)
c.*7059C>T (n.*7059C>T)
n.5751C>T
c.7428C>T (p.Pro2476=)
c.7344C>T (p.Pro2448=)
c.7314C>T (p.Pro2438=)
c.7266C>T (p.Pro2422=)
c.7227C>T (p.Pro2409=)
c.7152C>T (p.Pro2384=)
n.9023C>T
c.7341C>T (p.Pro2447=)
c.7311C>T (p.Pro2437=)
c.7263C>T (p.Pro2421=)
c.7230C>T (p.Pro2410=)
c.7200C>T (p.Pro2400=)
c.7197C>T (p.Pro2399=)
c.7149C>T (p.Pro2383=)
c.7113C>T (p.Pro2371=)
c.7110C>T (p.Pro2370=)
c.7065C>T (p.Pro2355=)
n.7730C>T
 ClinVar
Xg.77508399G>CCA517373999ATRXc.7431C>G (p.Pro2477=)
c.2529C>G (p.Pro843=)
c.7317C>G (p.Pro2439=)
c.*7059C>G (n.*7059C>G)
n.5751C>G
c.7428C>G (p.Pro2476=)
c.7344C>G (p.Pro2448=)
c.7314C>G (p.Pro2438=)
c.7266C>G (p.Pro2422=)
c.7227C>G (p.Pro2409=)
c.7152C>G (p.Pro2384=)
n.9023C>G
c.7341C>G (p.Pro2447=)
c.7311C>G (p.Pro2437=)
c.7263C>G (p.Pro2421=)
c.7230C>G (p.Pro2410=)
c.7200C>G (p.Pro2400=)
c.7197C>G (p.Pro2399=)
c.7149C>G (p.Pro2383=)
c.7113C>G (p.Pro2371=)
c.7110C>G (p.Pro2370=)
c.7065C>G (p.Pro2355=)
n.7730C>G
Xg.77508399G>TCA517374001ATRXc.7431C>A (p.Pro2477=)
c.2529C>A (p.Pro843=)
c.7317C>A (p.Pro2439=)
c.*7059C>A (n.*7059C>A)
n.5751C>A
c.7428C>A (p.Pro2476=)
c.7344C>A (p.Pro2448=)
c.7314C>A (p.Pro2438=)
c.7266C>A (p.Pro2422=)
c.7227C>A (p.Pro2409=)
c.7152C>A (p.Pro2384=)
n.9023C>A
c.7341C>A (p.Pro2447=)
c.7311C>A (p.Pro2437=)
c.7263C>A (p.Pro2421=)
c.7230C>A (p.Pro2410=)
c.7200C>A (p.Pro2400=)
c.7197C>A (p.Pro2399=)
c.7149C>A (p.Pro2383=)
c.7113C>A (p.Pro2371=)
c.7110C>A (p.Pro2370=)
c.7065C>A (p.Pro2355=)
n.7730C>A
Xg.77508400G>ACA413703674ATRXc.7430C>T (p.Pro2477Leu)
c.2528C>T (p.Pro843Leu)
c.7316C>T (p.Pro2439Leu)
c.*7058C>T (n.*7058C>T)
n.5750C>T
c.7427C>T (p.Pro2476Leu)
c.7343C>T (p.Pro2448Leu)
c.7313C>T (p.Pro2438Leu)
c.7265C>T (p.Pro2422Leu)
c.7226C>T (p.Pro2409Leu)
c.7151C>T (p.Pro2384Leu)
n.9022C>T
c.7340C>T (p.Pro2447Leu)
c.7310C>T (p.Pro2437Leu)
c.7262C>T (p.Pro2421Leu)
c.7229C>T (p.Pro2410Leu)
c.7199C>T (p.Pro2400Leu)
c.7196C>T (p.Pro2399Leu)
c.7148C>T (p.Pro2383Leu)
c.7112C>T (p.Pro2371Leu)
c.7109C>T (p.Pro2370Leu)
c.7064C>T (p.Pro2355Leu)
n.7729C>T
Xg.77508400G>CCA413703668ATRXc.7430C>G (p.Pro2477Arg)
c.2528C>G (p.Pro843Arg)
c.7316C>G (p.Pro2439Arg)
c.*7058C>G (n.*7058C>G)
n.5750C>G
c.7427C>G (p.Pro2476Arg)
c.7343C>G (p.Pro2448Arg)
c.7313C>G (p.Pro2438Arg)
c.7265C>G (p.Pro2422Arg)
c.7226C>G (p.Pro2409Arg)
c.7151C>G (p.Pro2384Arg)
n.9022C>G
c.7340C>G (p.Pro2447Arg)
c.7310C>G (p.Pro2437Arg)
c.7262C>G (p.Pro2421Arg)
c.7229C>G (p.Pro2410Arg)
c.7199C>G (p.Pro2400Arg)
c.7196C>G (p.Pro2399Arg)
c.7148C>G (p.Pro2383Arg)
c.7112C>G (p.Pro2371Arg)
c.7109C>G (p.Pro2370Arg)
c.7064C>G (p.Pro2355Arg)
n.7729C>G
Xg.77508400G>TCA413703671ATRXc.7430C>A (p.Pro2477His)
c.2528C>A (p.Pro843His)
c.7316C>A (p.Pro2439His)
c.*7058C>A (n.*7058C>A)
n.5750C>A
c.7427C>A (p.Pro2476His)
c.7343C>A (p.Pro2448His)
c.7313C>A (p.Pro2438His)
c.7265C>A (p.Pro2422His)
c.7226C>A (p.Pro2409His)
c.7151C>A (p.Pro2384His)
n.9022C>A
c.7340C>A (p.Pro2447His)
c.7310C>A (p.Pro2437His)
c.7262C>A (p.Pro2421His)
c.7229C>A (p.Pro2410His)
c.7199C>A (p.Pro2400His)
c.7196C>A (p.Pro2399His)
c.7148C>A (p.Pro2383His)
c.7112C>A (p.Pro2371His)
c.7109C>A (p.Pro2370His)
c.7064C>A (p.Pro2355His)
n.7729C>A
 COSMIC COSMIC
Xg.77508401G>ACA413703683ATRXc.7429C>T (p.Pro2477Ser)
c.2527C>T (p.Pro843Ser)
c.7315C>T (p.Pro2439Ser)
c.*7057C>T (n.*7057C>T)
n.5749C>T
c.7426C>T (p.Pro2476Ser)
c.7342C>T (p.Pro2448Ser)
c.7312C>T (p.Pro2438Ser)
c.7264C>T (p.Pro2422Ser)
c.7225C>T (p.Pro2409Ser)
c.7150C>T (p.Pro2384Ser)
n.9021C>T
c.7339C>T (p.Pro2447Ser)
c.7309C>T (p.Pro2437Ser)
c.7261C>T (p.Pro2421Ser)
c.7228C>T (p.Pro2410Ser)
c.7198C>T (p.Pro2400Ser)
c.7195C>T (p.Pro2399Ser)
c.7147C>T (p.Pro2383Ser)
c.7111C>T (p.Pro2371Ser)
c.7108C>T (p.Pro2370Ser)
c.7063C>T (p.Pro2355Ser)
n.7728C>T
Xg.77508401G>CCA413703686ATRXc.7429C>G (p.Pro2477Ala)
c.2527C>G (p.Pro843Ala)
c.7315C>G (p.Pro2439Ala)
c.*7057C>G (n.*7057C>G)
n.5749C>G
c.7426C>G (p.Pro2476Ala)
c.7342C>G (p.Pro2448Ala)
c.7312C>G (p.Pro2438Ala)
c.7264C>G (p.Pro2422Ala)
c.7225C>G (p.Pro2409Ala)
c.7150C>G (p.Pro2384Ala)
n.9021C>G
c.7339C>G (p.Pro2447Ala)
c.7309C>G (p.Pro2437Ala)
c.7261C>G (p.Pro2421Ala)
c.7228C>G (p.Pro2410Ala)
c.7198C>G (p.Pro2400Ala)
c.7195C>G (p.Pro2399Ala)
c.7147C>G (p.Pro2383Ala)
c.7111C>G (p.Pro2371Ala)
c.7108C>G (p.Pro2370Ala)
c.7063C>G (p.Pro2355Ala)
n.7728C>G
Xg.77508401G=CA2438929028ATRXc.7429C= (p.Pro2477=)
c.2527C= (p.Pro843=)
c.7315C= (p.Pro2439=)
c.*7057C= (n.*7057C=)
n.5749C=
c.7426C= (p.Pro2476=)
c.7342C= (p.Pro2448=)
c.7312C= (p.Pro2438=)
c.7264C= (p.Pro2422=)
c.7225C= (p.Pro2409=)
c.7150C= (p.Pro2384=)
n.9021C=
c.7339C= (p.Pro2447=)
c.7309C= (p.Pro2437=)
c.7261C= (p.Pro2421=)
c.7228C= (p.Pro2410=)
c.7198C= (p.Pro2400=)
c.7195C= (p.Pro2399=)
c.7147C= (p.Pro2383=)
c.7111C= (p.Pro2371=)
c.7108C= (p.Pro2370=)
c.7063C= (p.Pro2355=)
n.7728C=
Xg.77508401G>TCA413703690ATRXc.7429C>A (p.Pro2477Thr)
c.2527C>A (p.Pro843Thr)
c.7315C>A (p.Pro2439Thr)
c.*7057C>A (n.*7057C>A)
n.5749C>A
c.7426C>A (p.Pro2476Thr)
c.7342C>A (p.Pro2448Thr)
c.7312C>A (p.Pro2438Thr)
c.7264C>A (p.Pro2422Thr)
c.7225C>A (p.Pro2409Thr)
c.7150C>A (p.Pro2384Thr)
n.9021C>A
c.7339C>A (p.Pro2447Thr)
c.7309C>A (p.Pro2437Thr)
c.7261C>A (p.Pro2421Thr)
c.7228C>A (p.Pro2410Thr)
c.7198C>A (p.Pro2400Thr)
c.7195C>A (p.Pro2399Thr)
c.7147C>A (p.Pro2383Thr)
c.7111C>A (p.Pro2371Thr)
c.7108C>A (p.Pro2370Thr)
c.7063C>A (p.Pro2355Thr)
n.7728C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508402T>ACA517374003ATRXc.7428A>T (p.Pro2476=)
c.2526A>T (p.Pro842=)
c.7314A>T (p.Pro2438=)
c.*7056A>T (n.*7056A>T)
n.5748A>T
c.7425A>T (p.Pro2475=)
c.7341A>T (p.Pro2447=)
c.7311A>T (p.Pro2437=)
c.7263A>T (p.Pro2421=)
c.7224A>T (p.Pro2408=)
c.7149A>T (p.Pro2383=)
n.9020A>T
c.7338A>T (p.Pro2446=)
c.7308A>T (p.Pro2436=)
c.7260A>T (p.Pro2420=)
c.7227A>T (p.Pro2409=)
c.7197A>T (p.Pro2399=)
c.7194A>T (p.Pro2398=)
c.7146A>T (p.Pro2382=)
c.7110A>T (p.Pro2370=)
c.7107A>T (p.Pro2369=)
c.7062A>T (p.Pro2354=)
n.7727A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.77508402T>CCA517374004ATRXc.7428A>G (p.Pro2476=)
c.2526A>G (p.Pro842=)
c.7314A>G (p.Pro2438=)
c.*7056A>G (n.*7056A>G)
n.5748A>G
c.7425A>G (p.Pro2475=)
c.7341A>G (p.Pro2447=)
c.7311A>G (p.Pro2437=)
c.7263A>G (p.Pro2421=)
c.7224A>G (p.Pro2408=)
c.7149A>G (p.Pro2383=)
n.9020A>G
c.7338A>G (p.Pro2446=)
c.7308A>G (p.Pro2436=)
c.7260A>G (p.Pro2420=)
c.7227A>G (p.Pro2409=)
c.7197A>G (p.Pro2399=)
c.7194A>G (p.Pro2398=)
c.7146A>G (p.Pro2382=)
c.7110A>G (p.Pro2370=)
c.7107A>G (p.Pro2369=)
c.7062A>G (p.Pro2354=)
n.7727A>G
 dbSNP
Xg.77508402T>GCA517374005ATRXc.7428A>C (p.Pro2476=)
c.2526A>C (p.Pro842=)
c.7314A>C (p.Pro2438=)
c.*7056A>C (n.*7056A>C)
n.5748A>C
c.7425A>C (p.Pro2475=)
c.7341A>C (p.Pro2447=)
c.7311A>C (p.Pro2437=)
c.7263A>C (p.Pro2421=)
c.7224A>C (p.Pro2408=)
c.7149A>C (p.Pro2383=)
n.9020A>C
c.7338A>C (p.Pro2446=)
c.7308A>C (p.Pro2436=)
c.7260A>C (p.Pro2420=)
c.7227A>C (p.Pro2409=)
c.7197A>C (p.Pro2399=)
c.7194A>C (p.Pro2398=)
c.7146A>C (p.Pro2382=)
c.7110A>C (p.Pro2370=)
c.7107A>C (p.Pro2369=)
c.7062A>C (p.Pro2354=)
n.7727A>C
Xg.77508402T=CA2438929029ATRXc.7428A= (p.Pro2476=)
c.2526A= (p.Pro842=)
c.7314A= (p.Pro2438=)
c.*7056A= (n.*7056A=)
n.5748A=
c.7425A= (p.Pro2475=)
c.7341A= (p.Pro2447=)
c.7311A= (p.Pro2437=)
c.7263A= (p.Pro2421=)
c.7224A= (p.Pro2408=)
c.7149A= (p.Pro2383=)
n.9020A=
c.7338A= (p.Pro2446=)
c.7308A= (p.Pro2436=)
c.7260A= (p.Pro2420=)
c.7227A= (p.Pro2409=)
c.7197A= (p.Pro2399=)
c.7194A= (p.Pro2398=)
c.7146A= (p.Pro2382=)
c.7110A= (p.Pro2370=)
c.7107A= (p.Pro2369=)
c.7062A= (p.Pro2354=)
n.7727A=
Xg.77508403G>ACA413703701ATRXc.7427C>T (p.Pro2476Leu)
c.2525C>T (p.Pro842Leu)
c.7313C>T (p.Pro2438Leu)
c.*7055C>T (n.*7055C>T)
n.5747C>T
c.7424C>T (p.Pro2475Leu)
c.7340C>T (p.Pro2447Leu)
c.7310C>T (p.Pro2437Leu)
c.7262C>T (p.Pro2421Leu)
c.7223C>T (p.Pro2408Leu)
c.7148C>T (p.Pro2383Leu)
n.9019C>T
c.7337C>T (p.Pro2446Leu)
c.7307C>T (p.Pro2436Leu)
c.7259C>T (p.Pro2420Leu)
c.7226C>T (p.Pro2409Leu)
c.7196C>T (p.Pro2399Leu)
c.7193C>T (p.Pro2398Leu)
c.7145C>T (p.Pro2382Leu)
c.7109C>T (p.Pro2370Leu)
c.7106C>T (p.Pro2369Leu)
c.7061C>T (p.Pro2354Leu)
n.7726C>T
 dbSNP
Xg.77508403G>CCA413703698ATRXc.7427C>G (p.Pro2476Arg)
c.2525C>G (p.Pro842Arg)
c.7313C>G (p.Pro2438Arg)
c.*7055C>G (n.*7055C>G)
n.5747C>G
c.7424C>G (p.Pro2475Arg)
c.7340C>G (p.Pro2447Arg)
c.7310C>G (p.Pro2437Arg)
c.7262C>G (p.Pro2421Arg)
c.7223C>G (p.Pro2408Arg)
c.7148C>G (p.Pro2383Arg)
n.9019C>G
c.7337C>G (p.Pro2446Arg)
c.7307C>G (p.Pro2436Arg)
c.7259C>G (p.Pro2420Arg)
c.7226C>G (p.Pro2409Arg)
c.7196C>G (p.Pro2399Arg)
c.7193C>G (p.Pro2398Arg)
c.7145C>G (p.Pro2382Arg)
c.7109C>G (p.Pro2370Arg)
c.7106C>G (p.Pro2369Arg)
c.7061C>G (p.Pro2354Arg)
n.7726C>G
Xg.77508403G>TCA413703694ATRXc.7427C>A (p.Pro2476Gln)
c.2525C>A (p.Pro842Gln)
c.7313C>A (p.Pro2438Gln)
c.*7055C>A (n.*7055C>A)
n.5747C>A
c.7424C>A (p.Pro2475Gln)
c.7340C>A (p.Pro2447Gln)
c.7310C>A (p.Pro2437Gln)
c.7262C>A (p.Pro2421Gln)
c.7223C>A (p.Pro2408Gln)
c.7148C>A (p.Pro2383Gln)
n.9019C>A
c.7337C>A (p.Pro2446Gln)
c.7307C>A (p.Pro2436Gln)
c.7259C>A (p.Pro2420Gln)
c.7226C>A (p.Pro2409Gln)
c.7196C>A (p.Pro2399Gln)
c.7193C>A (p.Pro2398Gln)
c.7145C>A (p.Pro2382Gln)
c.7109C>A (p.Pro2370Gln)
c.7106C>A (p.Pro2369Gln)
c.7061C>A (p.Pro2354Gln)
n.7726C>A
Xg.77508404G>ACA413703702ATRXc.7426C>T (p.Pro2476Ser)
c.2524C>T (p.Pro842Ser)
c.7312C>T (p.Pro2438Ser)
c.*7054C>T (n.*7054C>T)
n.5746C>T
c.7423C>T (p.Pro2475Ser)
c.7339C>T (p.Pro2447Ser)
c.7309C>T (p.Pro2437Ser)
c.7261C>T (p.Pro2421Ser)
c.7222C>T (p.Pro2408Ser)
c.7147C>T (p.Pro2383Ser)
n.9018C>T
c.7336C>T (p.Pro2446Ser)
c.7306C>T (p.Pro2436Ser)
c.7258C>T (p.Pro2420Ser)
c.7225C>T (p.Pro2409Ser)
c.7195C>T (p.Pro2399Ser)
c.7192C>T (p.Pro2398Ser)
c.7144C>T (p.Pro2382Ser)
c.7108C>T (p.Pro2370Ser)
c.7105C>T (p.Pro2369Ser)
c.7060C>T (p.Pro2354Ser)
n.7725C>T
Xg.77508404G>CCA413703703ATRXc.7426C>G (p.Pro2476Ala)
c.2524C>G (p.Pro842Ala)
c.7312C>G (p.Pro2438Ala)
c.*7054C>G (n.*7054C>G)
n.5746C>G
c.7423C>G (p.Pro2475Ala)
c.7339C>G (p.Pro2447Ala)
c.7309C>G (p.Pro2437Ala)
c.7261C>G (p.Pro2421Ala)
c.7222C>G (p.Pro2408Ala)
c.7147C>G (p.Pro2383Ala)
n.9018C>G
c.7336C>G (p.Pro2446Ala)
c.7306C>G (p.Pro2436Ala)
c.7258C>G (p.Pro2420Ala)
c.7225C>G (p.Pro2409Ala)
c.7195C>G (p.Pro2399Ala)
c.7192C>G (p.Pro2398Ala)
c.7144C>G (p.Pro2382Ala)
c.7108C>G (p.Pro2370Ala)
c.7105C>G (p.Pro2369Ala)
c.7060C>G (p.Pro2354Ala)
n.7725C>G
Xg.77508404G>TCA413703704ATRXc.7426C>A (p.Pro2476Thr)
c.2524C>A (p.Pro842Thr)
c.7312C>A (p.Pro2438Thr)
c.*7054C>A (n.*7054C>A)
n.5746C>A
c.7423C>A (p.Pro2475Thr)
c.7339C>A (p.Pro2447Thr)
c.7309C>A (p.Pro2437Thr)
c.7261C>A (p.Pro2421Thr)
c.7222C>A (p.Pro2408Thr)
c.7147C>A (p.Pro2383Thr)
n.9018C>A
c.7336C>A (p.Pro2446Thr)
c.7306C>A (p.Pro2436Thr)
c.7258C>A (p.Pro2420Thr)
c.7225C>A (p.Pro2409Thr)
c.7195C>A (p.Pro2399Thr)
c.7192C>A (p.Pro2398Thr)
c.7144C>A (p.Pro2382Thr)
c.7108C>A (p.Pro2370Thr)
c.7105C>A (p.Pro2369Thr)
c.7060C>A (p.Pro2354Thr)
n.7725C>A
Xg.77508405T>ACA517374007ATRXc.7425A>T (p.Ala2475=)
c.2523A>T (p.Ala841=)
c.7311A>T (p.Ala2437=)
c.*7053A>T (n.*7053A>T)
n.5745A>T
c.7422A>T (p.Ala2474=)
c.7338A>T (p.Ala2446=)
c.7308A>T (p.Ala2436=)
c.7260A>T (p.Ala2420=)
c.7221A>T (p.Ala2407=)
c.7146A>T (p.Ala2382=)
n.9017A>T
c.7335A>T (p.Ala2445=)
c.7305A>T (p.Ala2435=)
c.7257A>T (p.Ala2419=)
c.7224A>T (p.Ala2408=)
c.7194A>T (p.Ala2398=)
c.7191A>T (p.Ala2397=)
c.7143A>T (p.Ala2381=)
c.7107A>T (p.Ala2369=)
c.7104A>T (p.Ala2368=)
c.7059A>T (p.Ala2353=)
n.7724A>T
Xg.77508405T>CCA331560033ATRXc.7425A>G (p.Ala2475=)
c.2523A>G (p.Ala841=)
c.7311A>G (p.Ala2437=)
c.*7053A>G (n.*7053A>G)
n.5745A>G
c.7422A>G (p.Ala2474=)
c.7338A>G (p.Ala2446=)
c.7308A>G (p.Ala2436=)
c.7260A>G (p.Ala2420=)
c.7221A>G (p.Ala2407=)
c.7146A>G (p.Ala2382=)
n.9017A>G
c.7335A>G (p.Ala2445=)
c.7305A>G (p.Ala2435=)
c.7257A>G (p.Ala2419=)
c.7224A>G (p.Ala2408=)
c.7194A>G (p.Ala2398=)
c.7191A>G (p.Ala2397=)
c.7143A>G (p.Ala2381=)
c.7107A>G (p.Ala2369=)
c.7104A>G (p.Ala2368=)
c.7059A>G (p.Ala2353=)
n.7724A>G
 ClinVar dbSNP
Xg.77508405T>GCA517374008ATRXc.7425A>C (p.Ala2475=)
c.2523A>C (p.Ala841=)
c.7311A>C (p.Ala2437=)
c.*7053A>C (n.*7053A>C)
n.5745A>C
c.7422A>C (p.Ala2474=)
c.7338A>C (p.Ala2446=)
c.7308A>C (p.Ala2436=)
c.7260A>C (p.Ala2420=)
c.7221A>C (p.Ala2407=)
c.7146A>C (p.Ala2382=)
n.9017A>C
c.7335A>C (p.Ala2445=)
c.7305A>C (p.Ala2435=)
c.7257A>C (p.Ala2419=)
c.7224A>C (p.Ala2408=)
c.7194A>C (p.Ala2398=)
c.7191A>C (p.Ala2397=)
c.7143A>C (p.Ala2381=)
c.7107A>C (p.Ala2369=)
c.7104A>C (p.Ala2368=)
c.7059A>C (p.Ala2353=)
n.7724A>C
Xg.77508405T=CA2438929030ATRXc.7425A= (p.Ala2475=)
c.2523A= (p.Ala841=)
c.7311A= (p.Ala2437=)
c.*7053A= (n.*7053A=)
n.5745A=
c.7422A= (p.Ala2474=)
c.7338A= (p.Ala2446=)
c.7308A= (p.Ala2436=)
c.7260A= (p.Ala2420=)
c.7221A= (p.Ala2407=)
c.7146A= (p.Ala2382=)
n.9017A=
c.7335A= (p.Ala2445=)
c.7305A= (p.Ala2435=)
c.7257A= (p.Ala2419=)
c.7224A= (p.Ala2408=)
c.7194A= (p.Ala2398=)
c.7191A= (p.Ala2397=)
c.7143A= (p.Ala2381=)
c.7107A= (p.Ala2369=)
c.7104A= (p.Ala2368=)
c.7059A= (p.Ala2353=)
n.7724A=
Xg.77508406G>ACA413703707ATRXc.7424C>T (p.Ala2475Val)
c.2522C>T (p.Ala841Val)
c.7310C>T (p.Ala2437Val)
c.*7052C>T (n.*7052C>T)
n.5744C>T
c.7421C>T (p.Ala2474Val)
c.7337C>T (p.Ala2446Val)
c.7307C>T (p.Ala2436Val)
c.7259C>T (p.Ala2420Val)
c.7220C>T (p.Ala2407Val)
c.7145C>T (p.Ala2382Val)
n.9016C>T
c.7334C>T (p.Ala2445Val)
c.7304C>T (p.Ala2435Val)
c.7256C>T (p.Ala2419Val)
c.7223C>T (p.Ala2408Val)
c.7193C>T (p.Ala2398Val)
c.7190C>T (p.Ala2397Val)
c.7142C>T (p.Ala2381Val)
c.7106C>T (p.Ala2369Val)
c.7103C>T (p.Ala2368Val)
c.7058C>T (p.Ala2353Val)
n.7723C>T
 dbSNP gnomAD v4
Xg.77508406G>CCA413703710ATRXc.7424C>G (p.Ala2475Gly)
c.2522C>G (p.Ala841Gly)
c.7310C>G (p.Ala2437Gly)
c.*7052C>G (n.*7052C>G)
n.5744C>G
c.7421C>G (p.Ala2474Gly)
c.7337C>G (p.Ala2446Gly)
c.7307C>G (p.Ala2436Gly)
c.7259C>G (p.Ala2420Gly)
c.7220C>G (p.Ala2407Gly)
c.7145C>G (p.Ala2382Gly)
n.9016C>G
c.7334C>G (p.Ala2445Gly)
c.7304C>G (p.Ala2435Gly)
c.7256C>G (p.Ala2419Gly)
c.7223C>G (p.Ala2408Gly)
c.7193C>G (p.Ala2398Gly)
c.7190C>G (p.Ala2397Gly)
c.7142C>G (p.Ala2381Gly)
c.7106C>G (p.Ala2369Gly)
c.7103C>G (p.Ala2368Gly)
c.7058C>G (p.Ala2353Gly)
n.7723C>G
Xg.77508406G>TCA413703712ATRXc.7424C>A (p.Ala2475Glu)
c.2522C>A (p.Ala841Glu)
c.7310C>A (p.Ala2437Glu)
c.*7052C>A (n.*7052C>A)
n.5744C>A
c.7421C>A (p.Ala2474Glu)
c.7337C>A (p.Ala2446Glu)
c.7307C>A (p.Ala2436Glu)
c.7259C>A (p.Ala2420Glu)
c.7220C>A (p.Ala2407Glu)
c.7145C>A (p.Ala2382Glu)
n.9016C>A
c.7334C>A (p.Ala2445Glu)
c.7304C>A (p.Ala2435Glu)
c.7256C>A (p.Ala2419Glu)
c.7223C>A (p.Ala2408Glu)
c.7193C>A (p.Ala2398Glu)
c.7190C>A (p.Ala2397Glu)
c.7142C>A (p.Ala2381Glu)
c.7106C>A (p.Ala2369Glu)
c.7103C>A (p.Ala2368Glu)
c.7058C>A (p.Ala2353Glu)
n.7723C>A
Xg.77508407C>ACA413703717ATRXc.7423G>T (p.Ala2475Ser)
c.2521G>T (p.Ala841Ser)
c.7309G>T (p.Ala2437Ser)
c.*7051G>T (n.*7051G>T)
n.5743G>T
c.7420G>T (p.Ala2474Ser)
c.7336G>T (p.Ala2446Ser)
c.7306G>T (p.Ala2436Ser)
c.7258G>T (p.Ala2420Ser)
c.7219G>T (p.Ala2407Ser)
c.7144G>T (p.Ala2382Ser)
n.9015G>T
c.7333G>T (p.Ala2445Ser)
c.7303G>T (p.Ala2435Ser)
c.7255G>T (p.Ala2419Ser)
c.7222G>T (p.Ala2408Ser)
c.7192G>T (p.Ala2398Ser)
c.7189G>T (p.Ala2397Ser)
c.7141G>T (p.Ala2381Ser)
c.7105G>T (p.Ala2369Ser)
c.7102G>T (p.Ala2368Ser)
c.7057G>T (p.Ala2353Ser)
n.7722G>T
Xg.77508407C=CA2438929031ATRXc.7423G= (p.Ala2475=)
c.2521G= (p.Ala841=)
c.7309G= (p.Ala2437=)
c.*7051G= (n.*7051G=)
n.5743G=
c.7420G= (p.Ala2474=)
c.7336G= (p.Ala2446=)
c.7306G= (p.Ala2436=)
c.7258G= (p.Ala2420=)
c.7219G= (p.Ala2407=)
c.7144G= (p.Ala2382=)
n.9015G=
c.7333G= (p.Ala2445=)
c.7303G= (p.Ala2435=)
c.7255G= (p.Ala2419=)
c.7222G= (p.Ala2408=)
c.7192G= (p.Ala2398=)
c.7189G= (p.Ala2397=)
c.7141G= (p.Ala2381=)
c.7105G= (p.Ala2369=)
c.7102G= (p.Ala2368=)
c.7057G= (p.Ala2353=)
n.7722G=
Xg.77508407C>GCA413703722ATRXc.7423G>C (p.Ala2475Pro)
c.2521G>C (p.Ala841Pro)
c.7309G>C (p.Ala2437Pro)
c.*7051G>C (n.*7051G>C)
n.5743G>C
c.7420G>C (p.Ala2474Pro)
c.7336G>C (p.Ala2446Pro)
c.7306G>C (p.Ala2436Pro)
c.7258G>C (p.Ala2420Pro)
c.7219G>C (p.Ala2407Pro)
c.7144G>C (p.Ala2382Pro)
n.9015G>C
c.7333G>C (p.Ala2445Pro)
c.7303G>C (p.Ala2435Pro)
c.7255G>C (p.Ala2419Pro)
c.7222G>C (p.Ala2408Pro)
c.7192G>C (p.Ala2398Pro)
c.7189G>C (p.Ala2397Pro)
c.7141G>C (p.Ala2381Pro)
c.7105G>C (p.Ala2369Pro)
c.7102G>C (p.Ala2368Pro)
c.7057G>C (p.Ala2353Pro)
n.7722G>C
 dbSNP
Xg.77508407C>TCA413703719ATRXc.7423G>A (p.Ala2475Thr)
c.2521G>A (p.Ala841Thr)
c.7309G>A (p.Ala2437Thr)
c.*7051G>A (n.*7051G>A)
n.5743G>A
c.7420G>A (p.Ala2474Thr)
c.7336G>A (p.Ala2446Thr)
c.7306G>A (p.Ala2436Thr)
c.7258G>A (p.Ala2420Thr)
c.7219G>A (p.Ala2407Thr)
c.7144G>A (p.Ala2382Thr)
n.9015G>A
c.7333G>A (p.Ala2445Thr)
c.7303G>A (p.Ala2435Thr)
c.7255G>A (p.Ala2419Thr)
c.7222G>A (p.Ala2408Thr)
c.7192G>A (p.Ala2398Thr)
c.7189G>A (p.Ala2397Thr)
c.7141G>A (p.Ala2381Thr)
c.7105G>A (p.Ala2369Thr)
c.7102G>A (p.Ala2368Thr)
c.7057G>A (p.Ala2353Thr)
n.7722G>A
 dbSNP
Xg.77508408A>CCA517374010ATRXc.7422T>G (p.Arg2474=)
c.2520T>G (p.Arg840=)
c.7308T>G (p.Arg2436=)
c.*7050T>G (n.*7050T>G)
n.5742T>G
c.7419T>G (p.Arg2473=)
c.7335T>G (p.Arg2445=)
c.7305T>G (p.Arg2435=)
c.7257T>G (p.Arg2419=)
c.7218T>G (p.Arg2406=)
c.7143T>G (p.Arg2381=)
n.9014T>G
c.7332T>G (p.Arg2444=)
c.7302T>G (p.Arg2434=)
c.7254T>G (p.Arg2418=)
c.7221T>G (p.Arg2407=)
c.7191T>G (p.Arg2397=)
c.7188T>G (p.Arg2396=)
c.7140T>G (p.Arg2380=)
c.7104T>G (p.Arg2368=)
c.7101T>G (p.Arg2367=)
c.7056T>G (p.Arg2352=)
n.7721T>G
Xg.77508408A>GCA517374011ATRXc.7422T>C (p.Arg2474=)
c.2520T>C (p.Arg840=)
c.7308T>C (p.Arg2436=)
c.*7050T>C (n.*7050T>C)
n.5742T>C
c.7419T>C (p.Arg2473=)
c.7335T>C (p.Arg2445=)
c.7305T>C (p.Arg2435=)
c.7257T>C (p.Arg2419=)
c.7218T>C (p.Arg2406=)
c.7143T>C (p.Arg2381=)
n.9014T>C
c.7332T>C (p.Arg2444=)
c.7302T>C (p.Arg2434=)
c.7254T>C (p.Arg2418=)
c.7221T>C (p.Arg2407=)
c.7191T>C (p.Arg2397=)
c.7188T>C (p.Arg2396=)
c.7140T>C (p.Arg2380=)
c.7104T>C (p.Arg2368=)
c.7101T>C (p.Arg2367=)
c.7056T>C (p.Arg2352=)
n.7721T>C
 ClinVar
Xg.77508408A>TCA517374012ATRXc.7422T>A (p.Arg2474=)
c.2520T>A (p.Arg840=)
c.7308T>A (p.Arg2436=)
c.*7050T>A (n.*7050T>A)
n.5742T>A
c.7419T>A (p.Arg2473=)
c.7335T>A (p.Arg2445=)
c.7305T>A (p.Arg2435=)
c.7257T>A (p.Arg2419=)
c.7218T>A (p.Arg2406=)
c.7143T>A (p.Arg2381=)
n.9014T>A
c.7332T>A (p.Arg2444=)
c.7302T>A (p.Arg2434=)
c.7254T>A (p.Arg2418=)
c.7221T>A (p.Arg2407=)
c.7191T>A (p.Arg2397=)
c.7188T>A (p.Arg2396=)
c.7140T>A (p.Arg2380=)
c.7104T>A (p.Arg2368=)
c.7101T>A (p.Arg2367=)
c.7056T>A (p.Arg2352=)
n.7721T>A
Xg.77508409C>ACA413703725ATRXc.7421G>T (p.Arg2474Leu)
c.2519G>T (p.Arg840Leu)
c.7307G>T (p.Arg2436Leu)
c.*7049G>T (n.*7049G>T)
n.5741G>T
c.7418G>T (p.Arg2473Leu)
c.7334G>T (p.Arg2445Leu)
c.7304G>T (p.Arg2435Leu)
c.7256G>T (p.Arg2419Leu)
c.7217G>T (p.Arg2406Leu)
c.7142G>T (p.Arg2381Leu)
n.9013G>T
c.7331G>T (p.Arg2444Leu)
c.7301G>T (p.Arg2434Leu)
c.7253G>T (p.Arg2418Leu)
c.7220G>T (p.Arg2407Leu)
c.7190G>T (p.Arg2397Leu)
c.7187G>T (p.Arg2396Leu)
c.7139G>T (p.Arg2380Leu)
c.7103G>T (p.Arg2368Leu)
c.7100G>T (p.Arg2367Leu)
c.7055G>T (p.Arg2352Leu)
n.7720G>T
 gnomAD v4
Xg.77508409C=CA2438929032ATRXc.7421G= (p.Arg2474=)
c.2519G= (p.Arg840=)
c.7307G= (p.Arg2436=)
c.*7049G= (n.*7049G=)
n.5741G=
c.7418G= (p.Arg2473=)
c.7334G= (p.Arg2445=)
c.7304G= (p.Arg2435=)
c.7256G= (p.Arg2419=)
c.7217G= (p.Arg2406=)
c.7142G= (p.Arg2381=)
n.9013G=
c.7331G= (p.Arg2444=)
c.7301G= (p.Arg2434=)
c.7253G= (p.Arg2418=)
c.7220G= (p.Arg2407=)
c.7190G= (p.Arg2397=)
c.7187G= (p.Arg2396=)
c.7139G= (p.Arg2380=)
c.7103G= (p.Arg2368=)
c.7100G= (p.Arg2367=)
c.7055G= (p.Arg2352=)
n.7720G=
Xg.77508409C>GCA413703734ATRXc.7421G>C (p.Arg2474Pro)
c.2519G>C (p.Arg840Pro)
c.7307G>C (p.Arg2436Pro)
c.*7049G>C (n.*7049G>C)
n.5741G>C
c.7418G>C (p.Arg2473Pro)
c.7334G>C (p.Arg2445Pro)
c.7304G>C (p.Arg2435Pro)
c.7256G>C (p.Arg2419Pro)
c.7217G>C (p.Arg2406Pro)
c.7142G>C (p.Arg2381Pro)
n.9013G>C
c.7331G>C (p.Arg2444Pro)
c.7301G>C (p.Arg2434Pro)
c.7253G>C (p.Arg2418Pro)
c.7220G>C (p.Arg2407Pro)
c.7190G>C (p.Arg2397Pro)
c.7187G>C (p.Arg2396Pro)
c.7139G>C (p.Arg2380Pro)
c.7103G>C (p.Arg2368Pro)
c.7100G>C (p.Arg2367Pro)
c.7055G>C (p.Arg2352Pro)
n.7720G>C
Xg.77508409C>TCA10457379ATRXc.7421G>A (p.Arg2474His)
c.2519G>A (p.Arg840His)
c.7307G>A (p.Arg2436His)
c.*7049G>A (n.*7049G>A)
n.5741G>A
c.7418G>A (p.Arg2473His)
c.7334G>A (p.Arg2445His)
c.7304G>A (p.Arg2435His)
c.7256G>A (p.Arg2419His)
c.7217G>A (p.Arg2406His)
c.7142G>A (p.Arg2381His)
n.9013G>A
c.7331G>A (p.Arg2444His)
c.7301G>A (p.Arg2434His)
c.7253G>A (p.Arg2418His)
c.7220G>A (p.Arg2407His)
c.7190G>A (p.Arg2397His)
c.7187G>A (p.Arg2396His)
c.7139G>A (p.Arg2380His)
c.7103G>A (p.Arg2368His)
c.7100G>A (p.Arg2367His)
c.7055G>A (p.Arg2352His)
n.7720G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.77508410G>ACA413703741ATRXc.7420C>T (p.Arg2474Cys)
c.2518C>T (p.Arg840Cys)
c.7306C>T (p.Arg2436Cys)
c.*7048C>T (n.*7048C>T)
n.5740C>T
c.7417C>T (p.Arg2473Cys)
c.7333C>T (p.Arg2445Cys)
c.7303C>T (p.Arg2435Cys)
c.7255C>T (p.Arg2419Cys)
c.7216C>T (p.Arg2406Cys)
c.7141C>T (p.Arg2381Cys)
n.9012C>T
c.7330C>T (p.Arg2444Cys)
c.7300C>T (p.Arg2434Cys)
c.7252C>T (p.Arg2418Cys)
c.7219C>T (p.Arg2407Cys)
c.7189C>T (p.Arg2397Cys)
c.7186C>T (p.Arg2396Cys)
c.7138C>T (p.Arg2380Cys)
c.7102C>T (p.Arg2368Cys)
c.7099C>T (p.Arg2367Cys)
c.7054C>T (p.Arg2352Cys)
n.7719C>T
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.77508410G>CCA413703745ATRXc.7420C>G (p.Arg2474Gly)
c.2518C>G (p.Arg840Gly)
c.7306C>G (p.Arg2436Gly)
c.*7048C>G (n.*7048C>G)
n.5740C>G
c.7417C>G (p.Arg2473Gly)
c.7333C>G (p.Arg2445Gly)
c.7303C>G (p.Arg2435Gly)
c.7255C>G (p.Arg2419Gly)
c.7216C>G (p.Arg2406Gly)
c.7141C>G (p.Arg2381Gly)
n.9012C>G
c.7330C>G (p.Arg2444Gly)
c.7300C>G (p.Arg2434Gly)
c.7252C>G (p.Arg2418Gly)
c.7219C>G (p.Arg2407Gly)
c.7189C>G (p.Arg2397Gly)
c.7186C>G (p.Arg2396Gly)
c.7138C>G (p.Arg2380Gly)
c.7102C>G (p.Arg2368Gly)
c.7099C>G (p.Arg2367Gly)
c.7054C>G (p.Arg2352Gly)
n.7719C>G
Xg.77508410G>TCA413703749ATRXc.7420C>A (p.Arg2474Ser)
c.2518C>A (p.Arg840Ser)
c.7306C>A (p.Arg2436Ser)
c.*7048C>A (n.*7048C>A)
n.5740C>A
c.7417C>A (p.Arg2473Ser)
c.7333C>A (p.Arg2445Ser)
c.7303C>A (p.Arg2435Ser)
c.7255C>A (p.Arg2419Ser)
c.7216C>A (p.Arg2406Ser)
c.7141C>A (p.Arg2381Ser)
n.9012C>A
c.7330C>A (p.Arg2444Ser)
c.7300C>A (p.Arg2434Ser)
c.7252C>A (p.Arg2418Ser)
c.7219C>A (p.Arg2407Ser)
c.7189C>A (p.Arg2397Ser)
c.7186C>A (p.Arg2396Ser)
c.7138C>A (p.Arg2380Ser)
c.7102C>A (p.Arg2368Ser)
c.7099C>A (p.Arg2367Ser)
c.7054C>A (p.Arg2352Ser)
n.7719C>A
Xg.77508411C>ACA413703752ATRXc.7419G>T (p.Gln2473His)
c.2517G>T (p.Gln839His)
c.7305G>T (p.Gln2435His)
c.*7047G>T (n.*7047G>T)
n.5739G>T
c.7416G>T (p.Gln2472His)
c.7332G>T (p.Gln2444His)
c.7302G>T (p.Gln2434His)
c.7254G>T (p.Gln2418His)
c.7215G>T (p.Gln2405His)
c.7140G>T (p.Gln2380His)
n.9011G>T
c.7329G>T (p.Gln2443His)
c.7299G>T (p.Gln2433His)
c.7251G>T (p.Gln2417His)
c.7218G>T (p.Gln2406His)
c.7188G>T (p.Gln2396His)
c.7185G>T (p.Gln2395His)
c.7137G>T (p.Gln2379His)
c.7101G>T (p.Gln2367His)
c.7098G>T (p.Gln2366His)
c.7053G>T (p.Gln2351His)
n.7718G>T
Xg.77508411C>GCA413703755ATRXc.7419G>C (p.Gln2473His)
c.2517G>C (p.Gln839His)
c.7305G>C (p.Gln2435His)
c.*7047G>C (n.*7047G>C)
n.5739G>C
c.7416G>C (p.Gln2472His)
c.7332G>C (p.Gln2444His)
c.7302G>C (p.Gln2434His)
c.7254G>C (p.Gln2418His)
c.7215G>C (p.Gln2405His)
c.7140G>C (p.Gln2380His)
n.9011G>C
c.7329G>C (p.Gln2443His)
c.7299G>C (p.Gln2433His)
c.7251G>C (p.Gln2417His)
c.7218G>C (p.Gln2406His)
c.7188G>C (p.Gln2396His)
c.7185G>C (p.Gln2395His)
c.7137G>C (p.Gln2379His)
c.7101G>C (p.Gln2367His)
c.7098G>C (p.Gln2366His)
c.7053G>C (p.Gln2351His)
n.7718G>C
Xg.77508411C>TCA517374015ATRXc.7419G>A (p.Gln2473=)
c.2517G>A (p.Gln839=)
c.7305G>A (p.Gln2435=)
c.*7047G>A (n.*7047G>A)
n.5739G>A
c.7416G>A (p.Gln2472=)
c.7332G>A (p.Gln2444=)
c.7302G>A (p.Gln2434=)
c.7254G>A (p.Gln2418=)
c.7215G>A (p.Gln2405=)
c.7140G>A (p.Gln2380=)
n.9011G>A
c.7329G>A (p.Gln2443=)
c.7299G>A (p.Gln2433=)
c.7251G>A (p.Gln2417=)
c.7218G>A (p.Gln2406=)
c.7188G>A (p.Gln2396=)
c.7185G>A (p.Gln2395=)
c.7137G>A (p.Gln2379=)
c.7101G>A (p.Gln2367=)
c.7098G>A (p.Gln2366=)
c.7053G>A (p.Gln2351=)
n.7718G>A
Xg.77508412T>ACA413703762ATRXc.7418A>T (p.Gln2473Leu)
c.2516A>T (p.Gln839Leu)
c.7304A>T (p.Gln2435Leu)
c.*7046A>T (n.*7046A>T)
n.5738A>T
c.7415A>T (p.Gln2472Leu)
c.7331A>T (p.Gln2444Leu)
c.7301A>T (p.Gln2434Leu)
c.7253A>T (p.Gln2418Leu)
c.7214A>T (p.Gln2405Leu)
c.7139A>T (p.Gln2380Leu)
n.9010A>T
c.7328A>T (p.Gln2443Leu)
c.7298A>T (p.Gln2433Leu)
c.7250A>T (p.Gln2417Leu)
c.7217A>T (p.Gln2406Leu)
c.7187A>T (p.Gln2396Leu)
c.7184A>T (p.Gln2395Leu)
c.7136A>T (p.Gln2379Leu)
c.7100A>T (p.Gln2367Leu)
c.7097A>T (p.Gln2366Leu)
c.7052A>T (p.Gln2351Leu)
n.7717A>T
Xg.77508412T>CCA413703766ATRXc.7418A>G (p.Gln2473Arg)
c.2516A>G (p.Gln839Arg)
c.7304A>G (p.Gln2435Arg)
c.*7046A>G (n.*7046A>G)
n.5738A>G
c.7415A>G (p.Gln2472Arg)
c.7331A>G (p.Gln2444Arg)
c.7301A>G (p.Gln2434Arg)
c.7253A>G (p.Gln2418Arg)
c.7214A>G (p.Gln2405Arg)
c.7139A>G (p.Gln2380Arg)
n.9010A>G
c.7328A>G (p.Gln2443Arg)
c.7298A>G (p.Gln2433Arg)
c.7250A>G (p.Gln2417Arg)
c.7217A>G (p.Gln2406Arg)
c.7187A>G (p.Gln2396Arg)
c.7184A>G (p.Gln2395Arg)
c.7136A>G (p.Gln2379Arg)
c.7100A>G (p.Gln2367Arg)
c.7097A>G (p.Gln2366Arg)
c.7052A>G (p.Gln2351Arg)
n.7717A>G
Xg.77508412T>GCA413703770ATRXc.7418A>C (p.Gln2473Pro)
c.2516A>C (p.Gln839Pro)
c.7304A>C (p.Gln2435Pro)
c.*7046A>C (n.*7046A>C)
n.5738A>C
c.7415A>C (p.Gln2472Pro)
c.7331A>C (p.Gln2444Pro)
c.7301A>C (p.Gln2434Pro)
c.7253A>C (p.Gln2418Pro)
c.7214A>C (p.Gln2405Pro)
c.7139A>C (p.Gln2380Pro)
n.9010A>C
c.7328A>C (p.Gln2443Pro)
c.7298A>C (p.Gln2433Pro)
c.7250A>C (p.Gln2417Pro)
c.7217A>C (p.Gln2406Pro)
c.7187A>C (p.Gln2396Pro)
c.7184A>C (p.Gln2395Pro)
c.7136A>C (p.Gln2379Pro)
c.7100A>C (p.Gln2367Pro)
c.7097A>C (p.Gln2366Pro)
c.7052A>C (p.Gln2351Pro)
n.7717A>C
Xg.77508413G>ACA413703775ATRXc.7417C>T (p.Gln2473Ter)
c.2515C>T (p.Gln839Ter)
c.7303C>T (p.Gln2435Ter)
c.*7045C>T (n.*7045C>T)
n.5737C>T
c.7414C>T (p.Gln2472Ter)
c.7330C>T (p.Gln2444Ter)
c.7300C>T (p.Gln2434Ter)
c.7252C>T (p.Gln2418Ter)
c.7213C>T (p.Gln2405Ter)
c.7138C>T (p.Gln2380Ter)
n.9009C>T
c.7327C>T (p.Gln2443Ter)
c.7297C>T (p.Gln2433Ter)
c.7249C>T (p.Gln2417Ter)
c.7216C>T (p.Gln2406Ter)
c.7186C>T (p.Gln2396Ter)
c.7183C>T (p.Gln2395Ter)
c.7135C>T (p.Gln2379Ter)
c.7099C>T (p.Gln2367Ter)
c.7096C>T (p.Gln2366Ter)
c.7051C>T (p.Gln2351Ter)
n.7716C>T
 dbSNP
Xg.77508413G>CCA413703774ATRXc.7417C>G (p.Gln2473Glu)
c.2515C>G (p.Gln839Glu)
c.7303C>G (p.Gln2435Glu)
c.*7045C>G (n.*7045C>G)
n.5737C>G
c.7414C>G (p.Gln2472Glu)
c.7330C>G (p.Gln2444Glu)
c.7300C>G (p.Gln2434Glu)
c.7252C>G (p.Gln2418Glu)
c.7213C>G (p.Gln2405Glu)
c.7138C>G (p.Gln2380Glu)
n.9009C>G
c.7327C>G (p.Gln2443Glu)
c.7297C>G (p.Gln2433Glu)
c.7249C>G (p.Gln2417Glu)
c.7216C>G (p.Gln2406Glu)
c.7186C>G (p.Gln2396Glu)
c.7183C>G (p.Gln2395Glu)
c.7135C>G (p.Gln2379Glu)
c.7099C>G (p.Gln2367Glu)
c.7096C>G (p.Gln2366Glu)
c.7051C>G (p.Gln2351Glu)
n.7716C>G
Xg.77508413G>TCA413703773ATRXc.7417C>A (p.Gln2473Lys)
c.2515C>A (p.Gln839Lys)
c.7303C>A (p.Gln2435Lys)
c.*7045C>A (n.*7045C>A)
n.5737C>A
c.7414C>A (p.Gln2472Lys)
c.7330C>A (p.Gln2444Lys)
c.7300C>A (p.Gln2434Lys)
c.7252C>A (p.Gln2418Lys)
c.7213C>A (p.Gln2405Lys)
c.7138C>A (p.Gln2380Lys)
n.9009C>A
c.7327C>A (p.Gln2443Lys)
c.7297C>A (p.Gln2433Lys)
c.7249C>A (p.Gln2417Lys)
c.7216C>A (p.Gln2406Lys)
c.7186C>A (p.Gln2396Lys)
c.7183C>A (p.Gln2395Lys)
c.7135C>A (p.Gln2379Lys)
c.7099C>A (p.Gln2367Lys)
c.7096C>A (p.Gln2366Lys)
c.7051C>A (p.Gln2351Lys)
n.7716C>A
Xg.77508414T>ACA413703778ATRXc.7416A>T (p.Leu2472Phe)
c.2514A>T (p.Leu838Phe)
c.7302A>T (p.Leu2434Phe)
c.*7044A>T (n.*7044A>T)
n.5736A>T
c.7413A>T (p.Leu2471Phe)
c.7329A>T (p.Leu2443Phe)
c.7299A>T (p.Leu2433Phe)
c.7251A>T (p.Leu2417Phe)
c.7212A>T (p.Leu2404Phe)
c.7137A>T (p.Leu2379Phe)
n.9008A>T
c.7326A>T (p.Leu2442Phe)
c.7296A>T (p.Leu2432Phe)
c.7248A>T (p.Leu2416Phe)
c.7215A>T (p.Leu2405Phe)
c.7185A>T (p.Leu2395Phe)
c.7182A>T (p.Leu2394Phe)
c.7134A>T (p.Leu2378Phe)
c.7098A>T (p.Leu2366Phe)
c.7095A>T (p.Leu2365Phe)
c.7050A>T (p.Leu2350Phe)
n.7715A>T
Xg.77508414T>CCA517374019ATRXc.7416A>G (p.Leu2472=)
c.2514A>G (p.Leu838=)
c.7302A>G (p.Leu2434=)
c.*7044A>G (n.*7044A>G)
n.5736A>G
c.7413A>G (p.Leu2471=)
c.7329A>G (p.Leu2443=)
c.7299A>G (p.Leu2433=)
c.7251A>G (p.Leu2417=)
c.7212A>G (p.Leu2404=)
c.7137A>G (p.Leu2379=)
n.9008A>G
c.7326A>G (p.Leu2442=)
c.7296A>G (p.Leu2432=)
c.7248A>G (p.Leu2416=)
c.7215A>G (p.Leu2405=)
c.7185A>G (p.Leu2395=)
c.7182A>G (p.Leu2394=)
c.7134A>G (p.Leu2378=)
c.7098A>G (p.Leu2366=)
c.7095A>G (p.Leu2365=)
c.7050A>G (p.Leu2350=)
n.7715A>G
Xg.77508414T>GCA413703776ATRXc.7416A>C (p.Leu2472Phe)
c.2514A>C (p.Leu838Phe)
c.7302A>C (p.Leu2434Phe)
c.*7044A>C (n.*7044A>C)
n.5736A>C
c.7413A>C (p.Leu2471Phe)
c.7329A>C (p.Leu2443Phe)
c.7299A>C (p.Leu2433Phe)
c.7251A>C (p.Leu2417Phe)
c.7212A>C (p.Leu2404Phe)
c.7137A>C (p.Leu2379Phe)
n.9008A>C
c.7326A>C (p.Leu2442Phe)
c.7296A>C (p.Leu2432Phe)
c.7248A>C (p.Leu2416Phe)
c.7215A>C (p.Leu2405Phe)
c.7185A>C (p.Leu2395Phe)
c.7182A>C (p.Leu2394Phe)
c.7134A>C (p.Leu2378Phe)
c.7098A>C (p.Leu2366Phe)
c.7095A>C (p.Leu2365Phe)
c.7050A>C (p.Leu2350Phe)
n.7715A>C
Xg.77508415A>CCA413703787ATRXc.7415T>G (p.Leu2472Ter)
c.2513T>G (p.Leu838Ter)
c.7301T>G (p.Leu2434Ter)
c.*7043T>G (n.*7043T>G)
n.5735T>G
c.7412T>G (p.Leu2471Ter)
c.7328T>G (p.Leu2443Ter)
c.7298T>G (p.Leu2433Ter)
c.7250T>G (p.Leu2417Ter)
c.7211T>G (p.Leu2404Ter)
c.7136T>G (p.Leu2379Ter)
n.9007T>G
c.7325T>G (p.Leu2442Ter)
c.7295T>G (p.Leu2432Ter)
c.7247T>G (p.Leu2416Ter)
c.7214T>G (p.Leu2405Ter)
c.7184T>G (p.Leu2395Ter)
c.7181T>G (p.Leu2394Ter)
c.7133T>G (p.Leu2378Ter)
c.7097T>G (p.Leu2366Ter)
c.7094T>G (p.Leu2365Ter)
c.7049T>G (p.Leu2350Ter)
n.7714T>G
Xg.77508415A>GCA413703790ATRXc.7415T>C (p.Leu2472Ser)
c.2513T>C (p.Leu838Ser)
c.7301T>C (p.Leu2434Ser)
c.*7043T>C (n.*7043T>C)
n.5735T>C
c.7412T>C (p.Leu2471Ser)
c.7328T>C (p.Leu2443Ser)
c.7298T>C (p.Leu2433Ser)
c.7250T>C (p.Leu2417Ser)
c.7211T>C (p.Leu2404Ser)
c.7136T>C (p.Leu2379Ser)
n.9007T>C
c.7325T>C (p.Leu2442Ser)
c.7295T>C (p.Leu2432Ser)
c.7247T>C (p.Leu2416Ser)
c.7214T>C (p.Leu2405Ser)
c.7184T>C (p.Leu2395Ser)
c.7181T>C (p.Leu2394Ser)
c.7133T>C (p.Leu2378Ser)
c.7097T>C (p.Leu2366Ser)
c.7094T>C (p.Leu2365Ser)
c.7049T>C (p.Leu2350Ser)
n.7714T>C
 gnomAD v4
Xg.77508415A>TCA413703805ATRXc.7415T>A (p.Leu2472Ter)
c.2513T>A (p.Leu838Ter)
c.7301T>A (p.Leu2434Ter)
c.*7043T>A (n.*7043T>A)
n.5735T>A
c.7412T>A (p.Leu2471Ter)
c.7328T>A (p.Leu2443Ter)
c.7298T>A (p.Leu2433Ter)
c.7250T>A (p.Leu2417Ter)
c.7211T>A (p.Leu2404Ter)
c.7136T>A (p.Leu2379Ter)
n.9007T>A
c.7325T>A (p.Leu2442Ter)
c.7295T>A (p.Leu2432Ter)
c.7247T>A (p.Leu2416Ter)
c.7214T>A (p.Leu2405Ter)
c.7184T>A (p.Leu2395Ter)
c.7181T>A (p.Leu2394Ter)
c.7133T>A (p.Leu2378Ter)
c.7097T>A (p.Leu2366Ter)
c.7094T>A (p.Leu2365Ter)
c.7049T>A (p.Leu2350Ter)
n.7714T>A
Xg.77508416A>CCA413703807ATRXc.7414T>G (p.Leu2472Val)
c.2512T>G (p.Leu838Val)
c.7300T>G (p.Leu2434Val)
c.*7042T>G (n.*7042T>G)
n.5734T>G
c.7411T>G (p.Leu2471Val)
c.7327T>G (p.Leu2443Val)
c.7297T>G (p.Leu2433Val)
c.7249T>G (p.Leu2417Val)
c.7210T>G (p.Leu2404Val)
c.7135T>G (p.Leu2379Val)
n.9006T>G
c.7324T>G (p.Leu2442Val)
c.7294T>G (p.Leu2432Val)
c.7246T>G (p.Leu2416Val)
c.7213T>G (p.Leu2405Val)
c.7183T>G (p.Leu2395Val)
c.7180T>G (p.Leu2394Val)
c.7132T>G (p.Leu2378Val)
c.7096T>G (p.Leu2366Val)
c.7093T>G (p.Leu2365Val)
c.7048T>G (p.Leu2350Val)
n.7713T>G
Xg.77508416A>GCA517374021ATRXc.7414T>C (p.Leu2472=)
c.2512T>C (p.Leu838=)
c.7300T>C (p.Leu2434=)
c.*7042T>C (n.*7042T>C)
n.5734T>C
c.7411T>C (p.Leu2471=)
c.7327T>C (p.Leu2443=)
c.7297T>C (p.Leu2433=)
c.7249T>C (p.Leu2417=)
c.7210T>C (p.Leu2404=)
c.7135T>C (p.Leu2379=)
n.9006T>C
c.7324T>C (p.Leu2442=)
c.7294T>C (p.Leu2432=)
c.7246T>C (p.Leu2416=)
c.7213T>C (p.Leu2405=)
c.7183T>C (p.Leu2395=)
c.7180T>C (p.Leu2394=)
c.7132T>C (p.Leu2378=)
c.7096T>C (p.Leu2366=)
c.7093T>C (p.Leu2365=)
c.7048T>C (p.Leu2350=)
n.7713T>C
Xg.77508416A>TCA413703809ATRXc.7414T>A (p.Leu2472Ile)
c.2512T>A (p.Leu838Ile)
c.7300T>A (p.Leu2434Ile)
c.*7042T>A (n.*7042T>A)
n.5734T>A
c.7411T>A (p.Leu2471Ile)
c.7327T>A (p.Leu2443Ile)
c.7297T>A (p.Leu2433Ile)
c.7249T>A (p.Leu2417Ile)
c.7210T>A (p.Leu2404Ile)
c.7135T>A (p.Leu2379Ile)
n.9006T>A
c.7324T>A (p.Leu2442Ile)
c.7294T>A (p.Leu2432Ile)
c.7246T>A (p.Leu2416Ile)
c.7213T>A (p.Leu2405Ile)
c.7183T>A (p.Leu2395Ile)
c.7180T>A (p.Leu2394Ile)
c.7132T>A (p.Leu2378Ile)
c.7096T>A (p.Leu2366Ile)
c.7093T>A (p.Leu2365Ile)
c.7048T>A (p.Leu2350Ile)
n.7713T>A
Xg.77508417T>ACA517374022ATRXc.7413A>T (p.Pro2471=)
c.2511A>T (p.Pro837=)
c.7299A>T (p.Pro2433=)
c.*7041A>T (n.*7041A>T)
n.5733A>T
c.7410A>T (p.Pro2470=)
c.7326A>T (p.Pro2442=)
c.7296A>T (p.Pro2432=)
c.7248A>T (p.Pro2416=)
c.7209A>T (p.Pro2403=)
c.7134A>T (p.Pro2378=)
n.9005A>T
c.7323A>T (p.Pro2441=)
c.7293A>T (p.Pro2431=)
c.7245A>T (p.Pro2415=)
c.7212A>T (p.Pro2404=)
c.7182A>T (p.Pro2394=)
c.7179A>T (p.Pro2393=)
c.7131A>T (p.Pro2377=)
c.7095A>T (p.Pro2365=)
c.7092A>T (p.Pro2364=)
c.7047A>T (p.Pro2349=)
n.7712A>T
Xg.77508417T>CCA517374023ATRXc.7413A>G (p.Pro2471=)
c.2511A>G (p.Pro837=)
c.7299A>G (p.Pro2433=)
c.*7041A>G (n.*7041A>G)
n.5733A>G
c.7410A>G (p.Pro2470=)
c.7326A>G (p.Pro2442=)
c.7296A>G (p.Pro2432=)
c.7248A>G (p.Pro2416=)
c.7209A>G (p.Pro2403=)
c.7134A>G (p.Pro2378=)
n.9005A>G
c.7323A>G (p.Pro2441=)
c.7293A>G (p.Pro2431=)
c.7245A>G (p.Pro2415=)
c.7212A>G (p.Pro2404=)
c.7182A>G (p.Pro2394=)
c.7179A>G (p.Pro2393=)
c.7131A>G (p.Pro2377=)
c.7095A>G (p.Pro2365=)
c.7092A>G (p.Pro2364=)
c.7047A>G (p.Pro2349=)
n.7712A>G
 ClinVar
Xg.77508417T>GCA517374024ATRXc.7413A>C (p.Pro2471=)
c.2511A>C (p.Pro837=)
c.7299A>C (p.Pro2433=)
c.*7041A>C (n.*7041A>C)
n.5733A>C
c.7410A>C (p.Pro2470=)
c.7326A>C (p.Pro2442=)
c.7296A>C (p.Pro2432=)
c.7248A>C (p.Pro2416=)
c.7209A>C (p.Pro2403=)
c.7134A>C (p.Pro2378=)
n.9005A>C
c.7323A>C (p.Pro2441=)
c.7293A>C (p.Pro2431=)
c.7245A>C (p.Pro2415=)
c.7212A>C (p.Pro2404=)
c.7182A>C (p.Pro2394=)
c.7179A>C (p.Pro2393=)
c.7131A>C (p.Pro2377=)
c.7095A>C (p.Pro2365=)
c.7092A>C (p.Pro2364=)
c.7047A>C (p.Pro2349=)
n.7712A>C
Xg.77508418G>ACA413703812ATRXc.7412C>T (p.Pro2471Leu)
c.2510C>T (p.Pro837Leu)
c.7298C>T (p.Pro2433Leu)
c.*7040C>T (n.*7040C>T)
n.5732C>T
c.7409C>T (p.Pro2470Leu)
c.7325C>T (p.Pro2442Leu)
c.7295C>T (p.Pro2432Leu)
c.7247C>T (p.Pro2416Leu)
c.7208C>T (p.Pro2403Leu)
c.7133C>T (p.Pro2378Leu)
n.9004C>T
c.7322C>T (p.Pro2441Leu)
c.7292C>T (p.Pro2431Leu)
c.7244C>T (p.Pro2415Leu)
c.7211C>T (p.Pro2404Leu)
c.7181C>T (p.Pro2394Leu)
c.7178C>T (p.Pro2393Leu)
c.7130C>T (p.Pro2377Leu)
c.7094C>T (p.Pro2365Leu)
c.7091C>T (p.Pro2364Leu)
c.7046C>T (p.Pro2349Leu)
n.7711C>T
 COSMIC COSMIC
Xg.77508418G>CCA413703813ATRXc.7412C>G (p.Pro2471Arg)
c.2510C>G (p.Pro837Arg)
c.7298C>G (p.Pro2433Arg)
c.*7040C>G (n.*7040C>G)
n.5732C>G
c.7409C>G (p.Pro2470Arg)
c.7325C>G (p.Pro2442Arg)
c.7295C>G (p.Pro2432Arg)
c.7247C>G (p.Pro2416Arg)
c.7208C>G (p.Pro2403Arg)
c.7133C>G (p.Pro2378Arg)
n.9004C>G
c.7322C>G (p.Pro2441Arg)
c.7292C>G (p.Pro2431Arg)
c.7244C>G (p.Pro2415Arg)
c.7211C>G (p.Pro2404Arg)
c.7181C>G (p.Pro2394Arg)
c.7178C>G (p.Pro2393Arg)
c.7130C>G (p.Pro2377Arg)
c.7094C>G (p.Pro2365Arg)
c.7091C>G (p.Pro2364Arg)
c.7046C>G (p.Pro2349Arg)
n.7711C>G
Xg.77508418G>TCA413703814ATRXc.7412C>A (p.Pro2471Gln)
c.2510C>A (p.Pro837Gln)
c.7298C>A (p.Pro2433Gln)
c.*7040C>A (n.*7040C>A)
n.5732C>A
c.7409C>A (p.Pro2470Gln)
c.7325C>A (p.Pro2442Gln)
c.7295C>A (p.Pro2432Gln)
c.7247C>A (p.Pro2416Gln)
c.7208C>A (p.Pro2403Gln)
c.7133C>A (p.Pro2378Gln)
n.9004C>A
c.7322C>A (p.Pro2441Gln)
c.7292C>A (p.Pro2431Gln)
c.7244C>A (p.Pro2415Gln)
c.7211C>A (p.Pro2404Gln)
c.7181C>A (p.Pro2394Gln)
c.7178C>A (p.Pro2393Gln)
c.7130C>A (p.Pro2377Gln)
c.7094C>A (p.Pro2365Gln)
c.7091C>A (p.Pro2364Gln)
c.7046C>A (p.Pro2349Gln)
n.7711C>A
 COSMIC COSMIC
Xg.77508419G>ACA413703817ATRXc.7411C>T (p.Pro2471Ser)
c.2509C>T (p.Pro837Ser)
c.7297C>T (p.Pro2433Ser)
c.*7039C>T (n.*7039C>T)
n.5731C>T
c.7408C>T (p.Pro2470Ser)
c.7324C>T (p.Pro2442Ser)
c.7294C>T (p.Pro2432Ser)
c.7246C>T (p.Pro2416Ser)
c.7207C>T (p.Pro2403Ser)
c.7132C>T (p.Pro2378Ser)
n.9003C>T
c.7321C>T (p.Pro2441Ser)
c.7291C>T (p.Pro2431Ser)
c.7243C>T (p.Pro2415Ser)
c.7210C>T (p.Pro2404Ser)
c.7180C>T (p.Pro2394Ser)
c.7177C>T (p.Pro2393Ser)
c.7129C>T (p.Pro2377Ser)
c.7093C>T (p.Pro2365Ser)
c.7090C>T (p.Pro2364Ser)
c.7045C>T (p.Pro2349Ser)
n.7710C>T
 dbSNP
Xg.77508419G>CCA413703819ATRXc.7411C>G (p.Pro2471Ala)
c.2509C>G (p.Pro837Ala)
c.7297C>G (p.Pro2433Ala)
c.*7039C>G (n.*7039C>G)
n.5731C>G
c.7408C>G (p.Pro2470Ala)
c.7324C>G (p.Pro2442Ala)
c.7294C>G (p.Pro2432Ala)
c.7246C>G (p.Pro2416Ala)
c.7207C>G (p.Pro2403Ala)
c.7132C>G (p.Pro2378Ala)
n.9003C>G
c.7321C>G (p.Pro2441Ala)
c.7291C>G (p.Pro2431Ala)
c.7243C>G (p.Pro2415Ala)
c.7210C>G (p.Pro2404Ala)
c.7180C>G (p.Pro2394Ala)
c.7177C>G (p.Pro2393Ala)
c.7129C>G (p.Pro2377Ala)
c.7093C>G (p.Pro2365Ala)
c.7090C>G (p.Pro2364Ala)
c.7045C>G (p.Pro2349Ala)
n.7710C>G
 dbSNP
Xg.77508419G>TCA413703822ATRXc.7411C>A (p.Pro2471Thr)
c.2509C>A (p.Pro837Thr)
c.7297C>A (p.Pro2433Thr)
c.*7039C>A (n.*7039C>A)
n.5731C>A
c.7408C>A (p.Pro2470Thr)
c.7324C>A (p.Pro2442Thr)
c.7294C>A (p.Pro2432Thr)
c.7246C>A (p.Pro2416Thr)
c.7207C>A (p.Pro2403Thr)
c.7132C>A (p.Pro2378Thr)
n.9003C>A
c.7321C>A (p.Pro2441Thr)
c.7291C>A (p.Pro2431Thr)
c.7243C>A (p.Pro2415Thr)
c.7210C>A (p.Pro2404Thr)
c.7180C>A (p.Pro2394Thr)
c.7177C>A (p.Pro2393Thr)
c.7129C>A (p.Pro2377Thr)
c.7093C>A (p.Pro2365Thr)
c.7090C>A (p.Pro2364Thr)
c.7045C>A (p.Pro2349Thr)
n.7710C>A
Xg.77508420T>ACA517374026ATRXc.7410A>T (p.Pro2470=)
c.2508A>T (p.Pro836=)
c.7296A>T (p.Pro2432=)
c.*7038A>T (n.*7038A>T)
n.5730A>T
c.7407A>T (p.Pro2469=)
c.7323A>T (p.Pro2441=)
c.7293A>T (p.Pro2431=)
c.7245A>T (p.Pro2415=)
c.7206A>T (p.Pro2402=)
c.7131A>T (p.Pro2377=)
n.9002A>T
c.7320A>T (p.Pro2440=)
c.7290A>T (p.Pro2430=)
c.7242A>T (p.Pro2414=)
c.7209A>T (p.Pro2403=)
c.7179A>T (p.Pro2393=)
c.7176A>T (p.Pro2392=)
c.7128A>T (p.Pro2376=)
c.7092A>T (p.Pro2364=)
c.7089A>T (p.Pro2363=)
c.7044A>T (p.Pro2348=)
n.7709A>T
Xg.77508420T>CCA517374027ATRXc.7410A>G (p.Pro2470=)
c.2508A>G (p.Pro836=)
c.7296A>G (p.Pro2432=)
c.*7038A>G (n.*7038A>G)
n.5730A>G
c.7407A>G (p.Pro2469=)
c.7323A>G (p.Pro2441=)
c.7293A>G (p.Pro2431=)
c.7245A>G (p.Pro2415=)
c.7206A>G (p.Pro2402=)
c.7131A>G (p.Pro2377=)
n.9002A>G
c.7320A>G (p.Pro2440=)
c.7290A>G (p.Pro2430=)
c.7242A>G (p.Pro2414=)
c.7209A>G (p.Pro2403=)
c.7179A>G (p.Pro2393=)
c.7176A>G (p.Pro2392=)
c.7128A>G (p.Pro2376=)
c.7092A>G (p.Pro2364=)
c.7089A>G (p.Pro2363=)
c.7044A>G (p.Pro2348=)
n.7709A>G
 gnomAD v4
Xg.77508420T>GCA517374025ATRXc.7410A>C (p.Pro2470=)
c.2508A>C (p.Pro836=)
c.7296A>C (p.Pro2432=)
c.*7038A>C (n.*7038A>C)
n.5730A>C
c.7407A>C (p.Pro2469=)
c.7323A>C (p.Pro2441=)
c.7293A>C (p.Pro2431=)
c.7245A>C (p.Pro2415=)
c.7206A>C (p.Pro2402=)
c.7131A>C (p.Pro2377=)
n.9002A>C
c.7320A>C (p.Pro2440=)
c.7290A>C (p.Pro2430=)
c.7242A>C (p.Pro2414=)
c.7209A>C (p.Pro2403=)
c.7179A>C (p.Pro2393=)
c.7176A>C (p.Pro2392=)
c.7128A>C (p.Pro2376=)
c.7092A>C (p.Pro2364=)
c.7089A>C (p.Pro2363=)
c.7044A>C (p.Pro2348=)
n.7709A>C
Xg.77508421G>ACA413703827ATRXc.7409C>T (p.Pro2470Leu)
c.2507C>T (p.Pro836Leu)
c.7295C>T (p.Pro2432Leu)
c.*7037C>T (n.*7037C>T)
n.5729C>T
c.7406C>T (p.Pro2469Leu)
c.7322C>T (p.Pro2441Leu)
c.7292C>T (p.Pro2431Leu)
c.7244C>T (p.Pro2415Leu)
c.7205C>T (p.Pro2402Leu)
c.7130C>T (p.Pro2377Leu)
n.9001C>T
c.7319C>T (p.Pro2440Leu)
c.7289C>T (p.Pro2430Leu)
c.7241C>T (p.Pro2414Leu)
c.7208C>T (p.Pro2403Leu)
c.7178C>T (p.Pro2393Leu)
c.7175C>T (p.Pro2392Leu)
c.7127C>T (p.Pro2376Leu)
c.7091C>T (p.Pro2364Leu)
c.7088C>T (p.Pro2363Leu)
c.7043C>T (p.Pro2348Leu)
n.7708C>T
 dbSNP
Xg.77508421G>CCA413703829ATRXc.7409C>G (p.Pro2470Arg)
c.2507C>G (p.Pro836Arg)
c.7295C>G (p.Pro2432Arg)
c.*7037C>G (n.*7037C>G)
n.5729C>G
c.7406C>G (p.Pro2469Arg)
c.7322C>G (p.Pro2441Arg)
c.7292C>G (p.Pro2431Arg)
c.7244C>G (p.Pro2415Arg)
c.7205C>G (p.Pro2402Arg)
c.7130C>G (p.Pro2377Arg)
n.9001C>G
c.7319C>G (p.Pro2440Arg)
c.7289C>G (p.Pro2430Arg)
c.7241C>G (p.Pro2414Arg)
c.7208C>G (p.Pro2403Arg)
c.7178C>G (p.Pro2393Arg)
c.7175C>G (p.Pro2392Arg)
c.7127C>G (p.Pro2376Arg)
c.7091C>G (p.Pro2364Arg)
c.7088C>G (p.Pro2363Arg)
c.7043C>G (p.Pro2348Arg)
n.7708C>G
Xg.77508421G>TCA413703825ATRXc.7409C>A (p.Pro2470Gln)
c.2507C>A (p.Pro836Gln)
c.7295C>A (p.Pro2432Gln)
c.*7037C>A (n.*7037C>A)
n.5729C>A
c.7406C>A (p.Pro2469Gln)
c.7322C>A (p.Pro2441Gln)
c.7292C>A (p.Pro2431Gln)
c.7244C>A (p.Pro2415Gln)
c.7205C>A (p.Pro2402Gln)
c.7130C>A (p.Pro2377Gln)
n.9001C>A
c.7319C>A (p.Pro2440Gln)
c.7289C>A (p.Pro2430Gln)
c.7241C>A (p.Pro2414Gln)
c.7208C>A (p.Pro2403Gln)
c.7178C>A (p.Pro2393Gln)
c.7175C>A (p.Pro2392Gln)
c.7127C>A (p.Pro2376Gln)
c.7091C>A (p.Pro2364Gln)
c.7088C>A (p.Pro2363Gln)
c.7043C>A (p.Pro2348Gln)
n.7708C>A
Xg.77508422delCA2738724161ATRXc.7409del (p.Pro2470HisfsTer10)
c.2507del (p.Pro836HisfsTer10)
c.7295del (p.Pro2432HisfsTer10)
c.*7037del (n.*7037del)
n.5729del
c.7406del (p.Pro2469HisfsTer10)
c.7322del (p.Pro2441HisfsTer10)
c.7292del (p.Pro2431HisfsTer10)
c.7244del (p.Pro2415HisfsTer10)
c.7205del (p.Pro2402HisfsTer10)
c.7130del (p.Pro2377HisfsTer10)
n.9001del
c.7319del (p.Pro2440HisfsTer10)
c.7289del (p.Pro2430HisfsTer10)
c.7241del (p.Pro2414HisfsTer10)
c.7208del (p.Pro2403HisfsTer10)
c.7178del (p.Pro2393HisfsTer10)
c.7175del (p.Pro2392HisfsTer10)
c.7127del (p.Pro2376HisfsTer10)
c.7091del (p.Pro2364HisfsTer10)
c.7088del (p.Pro2363HisfsTer10)
c.7043del (p.Pro2348HisfsTer10)
n.7708del
 dbSNP
Xg.77508422G>ACA413703835ATRXc.7408C>T (p.Pro2470Ser)
c.2506C>T (p.Pro836Ser)
c.7294C>T (p.Pro2432Ser)
c.*7036C>T (n.*7036C>T)
n.5728C>T
c.7405C>T (p.Pro2469Ser)
c.7321C>T (p.Pro2441Ser)
c.7291C>T (p.Pro2431Ser)
c.7243C>T (p.Pro2415Ser)
c.7204C>T (p.Pro2402Ser)
c.7129C>T (p.Pro2377Ser)
n.9000C>T
c.7318C>T (p.Pro2440Ser)
c.7288C>T (p.Pro2430Ser)
c.7240C>T (p.Pro2414Ser)
c.7207C>T (p.Pro2403Ser)
c.7177C>T (p.Pro2393Ser)
c.7174C>T (p.Pro2392Ser)
c.7126C>T (p.Pro2376Ser)
c.7090C>T (p.Pro2364Ser)
c.7087C>T (p.Pro2363Ser)
c.7042C>T (p.Pro2348Ser)
n.7707C>T
 dbSNP gnomAD v4
Xg.77508422G>CCA413703838ATRXc.7408C>G (p.Pro2470Ala)
c.2506C>G (p.Pro836Ala)
c.7294C>G (p.Pro2432Ala)
c.*7036C>G (n.*7036C>G)
n.5728C>G
c.7405C>G (p.Pro2469Ala)
c.7321C>G (p.Pro2441Ala)
c.7291C>G (p.Pro2431Ala)
c.7243C>G (p.Pro2415Ala)
c.7204C>G (p.Pro2402Ala)
c.7129C>G (p.Pro2377Ala)
n.9000C>G
c.7318C>G (p.Pro2440Ala)
c.7288C>G (p.Pro2430Ala)
c.7240C>G (p.Pro2414Ala)
c.7207C>G (p.Pro2403Ala)
c.7177C>G (p.Pro2393Ala)
c.7174C>G (p.Pro2392Ala)
c.7126C>G (p.Pro2376Ala)
c.7090C>G (p.Pro2364Ala)
c.7087C>G (p.Pro2363Ala)
c.7042C>G (p.Pro2348Ala)
n.7707C>G
Xg.77508422G>TCA413703840ATRXc.7408C>A (p.Pro2470Thr)
c.2506C>A (p.Pro836Thr)
c.7294C>A (p.Pro2432Thr)
c.*7036C>A (n.*7036C>A)
n.5728C>A
c.7405C>A (p.Pro2469Thr)
c.7321C>A (p.Pro2441Thr)
c.7291C>A (p.Pro2431Thr)
c.7243C>A (p.Pro2415Thr)
c.7204C>A (p.Pro2402Thr)
c.7129C>A (p.Pro2377Thr)
n.9000C>A
c.7318C>A (p.Pro2440Thr)
c.7288C>A (p.Pro2430Thr)
c.7240C>A (p.Pro2414Thr)
c.7207C>A (p.Pro2403Thr)
c.7177C>A (p.Pro2393Thr)
c.7174C>A (p.Pro2392Thr)
c.7126C>A (p.Pro2376Thr)
c.7090C>A (p.Pro2364Thr)
c.7087C>A (p.Pro2363Thr)
c.7042C>A (p.Pro2348Thr)
n.7707C>A
Xg.77508423T>ACA517374033ATRXc.7407A>T (p.Pro2469=)
c.2505A>T (p.Pro835=)
c.7293A>T (p.Pro2431=)
c.*7035A>T (n.*7035A>T)
n.5727A>T
c.7404A>T (p.Pro2468=)
c.7320A>T (p.Pro2440=)
c.7290A>T (p.Pro2430=)
c.7242A>T (p.Pro2414=)
c.7203A>T (p.Pro2401=)
c.7128A>T (p.Pro2376=)
n.8999A>T
c.7317A>T (p.Pro2439=)
c.7287A>T (p.Pro2429=)
c.7239A>T (p.Pro2413=)
c.7206A>T (p.Pro2402=)
c.7176A>T (p.Pro2392=)
c.7173A>T (p.Pro2391=)
c.7125A>T (p.Pro2375=)
c.7089A>T (p.Pro2363=)
c.7086A>T (p.Pro2362=)
c.7041A>T (p.Pro2347=)
n.7706A>T
Xg.77508423T>CCA517374032ATRXc.7407A>G (p.Pro2469=)
c.2505A>G (p.Pro835=)
c.7293A>G (p.Pro2431=)
c.*7035A>G (n.*7035A>G)
n.5727A>G
c.7404A>G (p.Pro2468=)
c.7320A>G (p.Pro2440=)
c.7290A>G (p.Pro2430=)
c.7242A>G (p.Pro2414=)
c.7203A>G (p.Pro2401=)
c.7128A>G (p.Pro2376=)
n.8999A>G
c.7317A>G (p.Pro2439=)
c.7287A>G (p.Pro2429=)
c.7239A>G (p.Pro2413=)
c.7206A>G (p.Pro2402=)
c.7176A>G (p.Pro2392=)
c.7173A>G (p.Pro2391=)
c.7125A>G (p.Pro2375=)
c.7089A>G (p.Pro2363=)
c.7086A>G (p.Pro2362=)
c.7041A>G (p.Pro2347=)
n.7706A>G
Xg.77508423T>GCA517374031ATRXc.7407A>C (p.Pro2469=)
c.2505A>C (p.Pro835=)
c.7293A>C (p.Pro2431=)
c.*7035A>C (n.*7035A>C)
n.5727A>C
c.7404A>C (p.Pro2468=)
c.7320A>C (p.Pro2440=)
c.7290A>C (p.Pro2430=)
c.7242A>C (p.Pro2414=)
c.7203A>C (p.Pro2401=)
c.7128A>C (p.Pro2376=)
n.8999A>C
c.7317A>C (p.Pro2439=)
c.7287A>C (p.Pro2429=)
c.7239A>C (p.Pro2413=)
c.7206A>C (p.Pro2402=)
c.7176A>C (p.Pro2392=)
c.7173A>C (p.Pro2391=)
c.7125A>C (p.Pro2375=)
c.7089A>C (p.Pro2363=)
c.7086A>C (p.Pro2362=)
c.7041A>C (p.Pro2347=)
n.7706A>C
Xg.77508424G>ACA413703844ATRXc.7406C>T (p.Pro2469Leu)
c.2504C>T (p.Pro835Leu)
c.7292C>T (p.Pro2431Leu)
c.*7034C>T (n.*7034C>T)
n.5726C>T
c.7403C>T (p.Pro2468Leu)
c.7319C>T (p.Pro2440Leu)
c.7289C>T (p.Pro2430Leu)
c.7241C>T (p.Pro2414Leu)
c.7202C>T (p.Pro2401Leu)
c.7127C>T (p.Pro2376Leu)
n.8998C>T
c.7316C>T (p.Pro2439Leu)
c.7286C>T (p.Pro2429Leu)
c.7238C>T (p.Pro2413Leu)
c.7205C>T (p.Pro2402Leu)
c.7175C>T (p.Pro2392Leu)
c.7172C>T (p.Pro2391Leu)
c.7124C>T (p.Pro2375Leu)
c.7088C>T (p.Pro2363Leu)
c.7085C>T (p.Pro2362Leu)
c.7040C>T (p.Pro2347Leu)
n.7705C>T
 ClinVar
Xg.77508424G>CCA10457380ATRXc.7406C>G (p.Pro2469Arg)
c.2504C>G (p.Pro835Arg)
c.7292C>G (p.Pro2431Arg)
c.*7034C>G (n.*7034C>G)
n.5726C>G
c.7403C>G (p.Pro2468Arg)
c.7319C>G (p.Pro2440Arg)
c.7289C>G (p.Pro2430Arg)
c.7241C>G (p.Pro2414Arg)
c.7202C>G (p.Pro2401Arg)
c.7127C>G (p.Pro2376Arg)
n.8998C>G
c.7316C>G (p.Pro2439Arg)
c.7286C>G (p.Pro2429Arg)
c.7238C>G (p.Pro2413Arg)
c.7205C>G (p.Pro2402Arg)
c.7175C>G (p.Pro2392Arg)
c.7172C>G (p.Pro2391Arg)
c.7124C>G (p.Pro2375Arg)
c.7088C>G (p.Pro2363Arg)
c.7085C>G (p.Pro2362Arg)
c.7040C>G (p.Pro2347Arg)
n.7705C>G
 dbSNP ExAC
Xg.77508424G=CA2438929033ATRXc.7406C= (p.Pro2469=)
c.2504C= (p.Pro835=)
c.7292C= (p.Pro2431=)
c.*7034C= (n.*7034C=)
n.5726C=
c.7403C= (p.Pro2468=)
c.7319C= (p.Pro2440=)
c.7289C= (p.Pro2430=)
c.7241C= (p.Pro2414=)
c.7202C= (p.Pro2401=)
c.7127C= (p.Pro2376=)
n.8998C=
c.7316C= (p.Pro2439=)
c.7286C= (p.Pro2429=)
c.7238C= (p.Pro2413=)
c.7205C= (p.Pro2402=)
c.7175C= (p.Pro2392=)
c.7172C= (p.Pro2391=)
c.7124C= (p.Pro2375=)
c.7088C= (p.Pro2363=)
c.7085C= (p.Pro2362=)
c.7040C= (p.Pro2347=)
n.7705C=
Xg.77508424G>TCA413703847ATRXc.7406C>A (p.Pro2469Gln)
c.2504C>A (p.Pro835Gln)
c.7292C>A (p.Pro2431Gln)
c.*7034C>A (n.*7034C>A)
n.5726C>A
c.7403C>A (p.Pro2468Gln)
c.7319C>A (p.Pro2440Gln)
c.7289C>A (p.Pro2430Gln)
c.7241C>A (p.Pro2414Gln)
c.7202C>A (p.Pro2401Gln)
c.7127C>A (p.Pro2376Gln)
n.8998C>A
c.7316C>A (p.Pro2439Gln)
c.7286C>A (p.Pro2429Gln)
c.7238C>A (p.Pro2413Gln)
c.7205C>A (p.Pro2402Gln)
c.7175C>A (p.Pro2392Gln)
c.7172C>A (p.Pro2391Gln)
c.7124C>A (p.Pro2375Gln)
c.7088C>A (p.Pro2363Gln)
c.7085C>A (p.Pro2362Gln)
c.7040C>A (p.Pro2347Gln)
n.7705C>A
Xg.77508425G>ACA413703849ATRXc.7405C>T (p.Pro2469Ser)
c.2503C>T (p.Pro835Ser)
c.7291C>T (p.Pro2431Ser)
c.*7033C>T (n.*7033C>T)
n.5725C>T
c.7402C>T (p.Pro2468Ser)
c.7318C>T (p.Pro2440Ser)
c.7288C>T (p.Pro2430Ser)
c.7240C>T (p.Pro2414Ser)
c.7201C>T (p.Pro2401Ser)
c.7126C>T (p.Pro2376Ser)
n.8997C>T
c.7315C>T (p.Pro2439Ser)
c.7285C>T (p.Pro2429Ser)
c.7237C>T (p.Pro2413Ser)
c.7204C>T (p.Pro2402Ser)
c.7174C>T (p.Pro2392Ser)
c.7171C>T (p.Pro2391Ser)
c.7123C>T (p.Pro2375Ser)
c.7087C>T (p.Pro2363Ser)
c.7084C>T (p.Pro2362Ser)
c.7039C>T (p.Pro2347Ser)
n.7704C>T
 dbSNP
Xg.77508425G>CCA413703853ATRXc.7405C>G (p.Pro2469Ala)
c.2503C>G (p.Pro835Ala)
c.7291C>G (p.Pro2431Ala)
c.*7033C>G (n.*7033C>G)
n.5725C>G
c.7402C>G (p.Pro2468Ala)
c.7318C>G (p.Pro2440Ala)
c.7288C>G (p.Pro2430Ala)
c.7240C>G (p.Pro2414Ala)
c.7201C>G (p.Pro2401Ala)
c.7126C>G (p.Pro2376Ala)
n.8997C>G
c.7315C>G (p.Pro2439Ala)
c.7285C>G (p.Pro2429Ala)
c.7237C>G (p.Pro2413Ala)
c.7204C>G (p.Pro2402Ala)
c.7174C>G (p.Pro2392Ala)
c.7171C>G (p.Pro2391Ala)
c.7123C>G (p.Pro2375Ala)
c.7087C>G (p.Pro2363Ala)
c.7084C>G (p.Pro2362Ala)
c.7039C>G (p.Pro2347Ala)
n.7704C>G
Xg.77508425G>TCA413703851ATRXc.7405C>A (p.Pro2469Thr)
c.2503C>A (p.Pro835Thr)
c.7291C>A (p.Pro2431Thr)
c.*7033C>A (n.*7033C>A)
n.5725C>A
c.7402C>A (p.Pro2468Thr)
c.7318C>A (p.Pro2440Thr)
c.7288C>A (p.Pro2430Thr)
c.7240C>A (p.Pro2414Thr)
c.7201C>A (p.Pro2401Thr)
c.7126C>A (p.Pro2376Thr)
n.8997C>A
c.7315C>A (p.Pro2439Thr)
c.7285C>A (p.Pro2429Thr)
c.7237C>A (p.Pro2413Thr)
c.7204C>A (p.Pro2402Thr)
c.7174C>A (p.Pro2392Thr)
c.7171C>A (p.Pro2391Thr)
c.7123C>A (p.Pro2375Thr)
c.7087C>A (p.Pro2363Thr)
c.7084C>A (p.Pro2362Thr)
c.7039C>A (p.Pro2347Thr)
n.7704C>A
 dbSNP
Xg.77508426C>ACA413703856ATRXc.7404G>T (p.Gln2468His)
c.2502G>T (p.Gln834His)
c.7290G>T (p.Gln2430His)
c.*7032G>T (n.*7032G>T)
n.5724G>T
c.7401G>T (p.Gln2467His)
c.7317G>T (p.Gln2439His)
c.7287G>T (p.Gln2429His)
c.7239G>T (p.Gln2413His)
c.7200G>T (p.Gln2400His)
c.7125G>T (p.Gln2375His)
n.8996G>T
c.7314G>T (p.Gln2438His)
c.7284G>T (p.Gln2428His)
c.7236G>T (p.Gln2412His)
c.7203G>T (p.Gln2401His)
c.7173G>T (p.Gln2391His)
c.7170G>T (p.Gln2390His)
c.7122G>T (p.Gln2374His)
c.7086G>T (p.Gln2362His)
c.7083G>T (p.Gln2361His)
c.7038G>T (p.Gln2346His)
n.7703G>T
 dbSNP
Xg.77508426C>GCA413703860ATRXc.7404G>C (p.Gln2468His)
c.2502G>C (p.Gln834His)
c.7290G>C (p.Gln2430His)
c.*7032G>C (n.*7032G>C)
n.5724G>C
c.7401G>C (p.Gln2467His)
c.7317G>C (p.Gln2439His)
c.7287G>C (p.Gln2429His)
c.7239G>C (p.Gln2413His)
c.7200G>C (p.Gln2400His)
c.7125G>C (p.Gln2375His)
n.8996G>C
c.7314G>C (p.Gln2438His)
c.7284G>C (p.Gln2428His)
c.7236G>C (p.Gln2412His)
c.7203G>C (p.Gln2401His)
c.7173G>C (p.Gln2391His)
c.7170G>C (p.Gln2390His)
c.7122G>C (p.Gln2374His)
c.7086G>C (p.Gln2362His)
c.7083G>C (p.Gln2361His)
c.7038G>C (p.Gln2346His)
n.7703G>C
 dbSNP
Xg.77508426C>TCA517374035ATRXc.7404G>A (p.Gln2468=)
c.2502G>A (p.Gln834=)
c.7290G>A (p.Gln2430=)
c.*7032G>A (n.*7032G>A)
n.5724G>A
c.7401G>A (p.Gln2467=)
c.7317G>A (p.Gln2439=)
c.7287G>A (p.Gln2429=)
c.7239G>A (p.Gln2413=)
c.7200G>A (p.Gln2400=)
c.7125G>A (p.Gln2375=)
n.8996G>A
c.7314G>A (p.Gln2438=)
c.7284G>A (p.Gln2428=)
c.7236G>A (p.Gln2412=)
c.7203G>A (p.Gln2401=)
c.7173G>A (p.Gln2391=)
c.7170G>A (p.Gln2390=)
c.7122G>A (p.Gln2374=)
c.7086G>A (p.Gln2362=)
c.7083G>A (p.Gln2361=)
c.7038G>A (p.Gln2346=)
n.7703G>A
 dbSNP
Xg.77508427T>ACA413703864ATRXc.7403A>T (p.Gln2468Leu)
c.2501A>T (p.Gln834Leu)
c.7289A>T (p.Gln2430Leu)
c.*7031A>T (n.*7031A>T)
n.5723A>T
c.7400A>T (p.Gln2467Leu)
c.7316A>T (p.Gln2439Leu)
c.7286A>T (p.Gln2429Leu)
c.7238A>T (p.Gln2413Leu)
c.7199A>T (p.Gln2400Leu)
c.7124A>T (p.Gln2375Leu)
n.8995A>T
c.7313A>T (p.Gln2438Leu)
c.7283A>T (p.Gln2428Leu)
c.7235A>T (p.Gln2412Leu)
c.7202A>T (p.Gln2401Leu)
c.7172A>T (p.Gln2391Leu)
c.7169A>T (p.Gln2390Leu)
c.7121A>T (p.Gln2374Leu)
c.7085A>T (p.Gln2362Leu)
c.7082A>T (p.Gln2361Leu)
c.7037A>T (p.Gln2346Leu)
n.7702A>T
Xg.77508427T>CCA413703870ATRXc.7403A>G (p.Gln2468Arg)
c.2501A>G (p.Gln834Arg)
c.7289A>G (p.Gln2430Arg)
c.*7031A>G (n.*7031A>G)
n.5723A>G
c.7400A>G (p.Gln2467Arg)
c.7316A>G (p.Gln2439Arg)
c.7286A>G (p.Gln2429Arg)
c.7238A>G (p.Gln2413Arg)
c.7199A>G (p.Gln2400Arg)
c.7124A>G (p.Gln2375Arg)
n.8995A>G
c.7313A>G (p.Gln2438Arg)
c.7283A>G (p.Gln2428Arg)
c.7235A>G (p.Gln2412Arg)
c.7202A>G (p.Gln2401Arg)
c.7172A>G (p.Gln2391Arg)
c.7169A>G (p.Gln2390Arg)
c.7121A>G (p.Gln2374Arg)
c.7085A>G (p.Gln2362Arg)
c.7082A>G (p.Gln2361Arg)
c.7037A>G (p.Gln2346Arg)
n.7702A>G
 dbSNP
Xg.77508427T>GCA413703874ATRXc.7403A>C (p.Gln2468Pro)
c.2501A>C (p.Gln834Pro)
c.7289A>C (p.Gln2430Pro)
c.*7031A>C (n.*7031A>C)
n.5723A>C
c.7400A>C (p.Gln2467Pro)
c.7316A>C (p.Gln2439Pro)
c.7286A>C (p.Gln2429Pro)
c.7238A>C (p.Gln2413Pro)
c.7199A>C (p.Gln2400Pro)
c.7124A>C (p.Gln2375Pro)
n.8995A>C
c.7313A>C (p.Gln2438Pro)
c.7283A>C (p.Gln2428Pro)
c.7235A>C (p.Gln2412Pro)
c.7202A>C (p.Gln2401Pro)
c.7172A>C (p.Gln2391Pro)
c.7169A>C (p.Gln2390Pro)
c.7121A>C (p.Gln2374Pro)
c.7085A>C (p.Gln2362Pro)
c.7082A>C (p.Gln2361Pro)
c.7037A>C (p.Gln2346Pro)
n.7702A>C
Xg.77508428G>ACA413703886ATRXc.7402C>T (p.Gln2468Ter)
c.2500C>T (p.Gln834Ter)
c.7288C>T (p.Gln2430Ter)
c.*7030C>T (n.*7030C>T)
n.5722C>T
c.7399C>T (p.Gln2467Ter)
c.7315C>T (p.Gln2439Ter)
c.7285C>T (p.Gln2429Ter)
c.7237C>T (p.Gln2413Ter)
c.7198C>T (p.Gln2400Ter)
c.7123C>T (p.Gln2375Ter)
n.8994C>T
c.7312C>T (p.Gln2438Ter)
c.7282C>T (p.Gln2428Ter)
c.7234C>T (p.Gln2412Ter)
c.7201C>T (p.Gln2401Ter)
c.7171C>T (p.Gln2391Ter)
c.7168C>T (p.Gln2390Ter)
c.7120C>T (p.Gln2374Ter)
c.7084C>T (p.Gln2362Ter)
c.7081C>T (p.Gln2361Ter)
c.7036C>T (p.Gln2346Ter)
n.7701C>T
 dbSNP
Xg.77508428G>CCA10457381ATRXc.7402C>G (p.Gln2468Glu)
c.2500C>G (p.Gln834Glu)
c.7288C>G (p.Gln2430Glu)
c.*7030C>G (n.*7030C>G)
n.5722C>G
c.7399C>G (p.Gln2467Glu)
c.7315C>G (p.Gln2439Glu)
c.7285C>G (p.Gln2429Glu)
c.7237C>G (p.Gln2413Glu)
c.7198C>G (p.Gln2400Glu)
c.7123C>G (p.Gln2375Glu)
n.8994C>G
c.7312C>G (p.Gln2438Glu)
c.7282C>G (p.Gln2428Glu)
c.7234C>G (p.Gln2412Glu)
c.7201C>G (p.Gln2401Glu)
c.7171C>G (p.Gln2391Glu)
c.7168C>G (p.Gln2390Glu)
c.7120C>G (p.Gln2374Glu)
c.7084C>G (p.Gln2362Glu)
c.7081C>G (p.Gln2361Glu)
c.7036C>G (p.Gln2346Glu)
n.7701C>G
 dbSNP ExAC
Xg.77508428G=CA2438929034ATRXc.7402C= (p.Gln2468=)
c.2500C= (p.Gln834=)
c.7288C= (p.Gln2430=)
c.*7030C= (n.*7030C=)
n.5722C=
c.7399C= (p.Gln2467=)
c.7315C= (p.Gln2439=)
c.7285C= (p.Gln2429=)
c.7237C= (p.Gln2413=)
c.7198C= (p.Gln2400=)
c.7123C= (p.Gln2375=)
n.8994C=
c.7312C= (p.Gln2438=)
c.7282C= (p.Gln2428=)
c.7234C= (p.Gln2412=)
c.7201C= (p.Gln2401=)
c.7171C= (p.Gln2391=)
c.7168C= (p.Gln2390=)
c.7120C= (p.Gln2374=)
c.7084C= (p.Gln2362=)
c.7081C= (p.Gln2361=)
c.7036C= (p.Gln2346=)
n.7701C=
Xg.77508428G>TCA10457382ATRXc.7402C>A (p.Gln2468Lys)
c.2500C>A (p.Gln834Lys)
c.7288C>A (p.Gln2430Lys)
c.*7030C>A (n.*7030C>A)
n.5722C>A
c.7399C>A (p.Gln2467Lys)
c.7315C>A (p.Gln2439Lys)
c.7285C>A (p.Gln2429Lys)
c.7237C>A (p.Gln2413Lys)
c.7198C>A (p.Gln2400Lys)
c.7123C>A (p.Gln2375Lys)
n.8994C>A
c.7312C>A (p.Gln2438Lys)
c.7282C>A (p.Gln2428Lys)
c.7234C>A (p.Gln2412Lys)
c.7201C>A (p.Gln2401Lys)
c.7171C>A (p.Gln2391Lys)
c.7168C>A (p.Gln2390Lys)
c.7120C>A (p.Gln2374Lys)
c.7084C>A (p.Gln2362Lys)
c.7081C>A (p.Gln2361Lys)
c.7036C>A (p.Gln2346Lys)
n.7701C>A
 dbSNP ExAC
Xg.77508429C>ACA413703889ATRXc.7401G>T (p.Met2467Ile)
c.2499G>T (p.Met833Ile)
c.7287G>T (p.Met2429Ile)
c.*7029G>T (n.*7029G>T)
n.5721G>T
c.7398G>T (p.Met2466Ile)
c.7314G>T (p.Met2438Ile)
c.7284G>T (p.Met2428Ile)
c.7236G>T (p.Met2412Ile)
c.7197G>T (p.Met2399Ile)
c.7122G>T (p.Met2374Ile)
n.8993G>T
c.7311G>T (p.Met2437Ile)
c.7281G>T (p.Met2427Ile)
c.7233G>T (p.Met2411Ile)
c.7200G>T (p.Met2400Ile)
c.7170G>T (p.Met2390Ile)
c.7167G>T (p.Met2389Ile)
c.7119G>T (p.Met2373Ile)
c.7083G>T (p.Met2361Ile)
c.7080G>T (p.Met2360Ile)
c.7035G>T (p.Met2345Ile)
n.7700G>T
Xg.77508429C=CA2438929035ATRXc.7401G= (p.Met2467=)
c.2499G= (p.Met833=)
c.7287G= (p.Met2429=)
c.*7029G= (n.*7029G=)
n.5721G=
c.7398G= (p.Met2466=)
c.7314G= (p.Met2438=)
c.7284G= (p.Met2428=)
c.7236G= (p.Met2412=)
c.7197G= (p.Met2399=)
c.7122G= (p.Met2374=)
n.8993G=
c.7311G= (p.Met2437=)
c.7281G= (p.Met2427=)
c.7233G= (p.Met2411=)
c.7200G= (p.Met2400=)
c.7170G= (p.Met2390=)
c.7167G= (p.Met2389=)
c.7119G= (p.Met2373=)
c.7083G= (p.Met2361=)
c.7080G= (p.Met2360=)
c.7035G= (p.Met2345=)
n.7700G=
Xg.77508429C>GCA413703890ATRXc.7401G>C (p.Met2467Ile)
c.2499G>C (p.Met833Ile)
c.7287G>C (p.Met2429Ile)
c.*7029G>C (n.*7029G>C)
n.5721G>C
c.7398G>C (p.Met2466Ile)
c.7314G>C (p.Met2438Ile)
c.7284G>C (p.Met2428Ile)
c.7236G>C (p.Met2412Ile)
c.7197G>C (p.Met2399Ile)
c.7122G>C (p.Met2374Ile)
n.8993G>C
c.7311G>C (p.Met2437Ile)
c.7281G>C (p.Met2427Ile)
c.7233G>C (p.Met2411Ile)
c.7200G>C (p.Met2400Ile)
c.7170G>C (p.Met2390Ile)
c.7167G>C (p.Met2389Ile)
c.7119G>C (p.Met2373Ile)
c.7083G>C (p.Met2361Ile)
c.7080G>C (p.Met2360Ile)
c.7035G>C (p.Met2345Ile)
n.7700G>C
 dbSNP
Xg.77508429C>TCA10457383ATRXc.7401G>A (p.Met2467Ile)
c.2499G>A (p.Met833Ile)
c.7287G>A (p.Met2429Ile)
c.*7029G>A (n.*7029G>A)
n.5721G>A
c.7398G>A (p.Met2466Ile)
c.7314G>A (p.Met2438Ile)
c.7284G>A (p.Met2428Ile)
c.7236G>A (p.Met2412Ile)
c.7197G>A (p.Met2399Ile)
c.7122G>A (p.Met2374Ile)
n.8993G>A
c.7311G>A (p.Met2437Ile)
c.7281G>A (p.Met2427Ile)
c.7233G>A (p.Met2411Ile)
c.7200G>A (p.Met2400Ile)
c.7170G>A (p.Met2390Ile)
c.7167G>A (p.Met2389Ile)
c.7119G>A (p.Met2373Ile)
c.7083G>A (p.Met2361Ile)
c.7080G>A (p.Met2360Ile)
c.7035G>A (p.Met2345Ile)
n.7700G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508430delCA2579648638ATRXc.7400del (p.Met2467SerfsTer13)
c.2498del (p.Met833SerfsTer13)
c.7286del (p.Met2429SerfsTer13)
c.*7028del (n.*7028del)
n.5720del
c.7397del (p.Met2466SerfsTer13)
c.7313del (p.Met2438SerfsTer13)
c.7283del (p.Met2428SerfsTer13)
c.7235del (p.Met2412SerfsTer13)
c.7196del (p.Met2399SerfsTer13)
c.7121del (p.Met2374SerfsTer13)
n.8992del
c.7310del (p.Met2437SerfsTer13)
c.7280del (p.Met2427SerfsTer13)
c.7232del (p.Met2411SerfsTer13)
c.7199del (p.Met2400SerfsTer13)
c.7169del (p.Met2390SerfsTer13)
c.7166del (p.Met2389SerfsTer13)
c.7118del (p.Met2373SerfsTer13)
c.7082del (p.Met2361SerfsTer13)
c.7079del (p.Met2360SerfsTer13)
c.7034del (p.Met2345SerfsTer13)
n.7699del
Xg.77508430A=CA2438929036ATRXc.7400T= (p.Met2467=)
c.2498T= (p.Met833=)
c.7286T= (p.Met2429=)
c.*7028T= (n.*7028T=)
n.5720T=
c.7397T= (p.Met2466=)
c.7313T= (p.Met2438=)
c.7283T= (p.Met2428=)
c.7235T= (p.Met2412=)
c.7196T= (p.Met2399=)
c.7121T= (p.Met2374=)
n.8992T=
c.7310T= (p.Met2437=)
c.7280T= (p.Met2427=)
c.7232T= (p.Met2411=)
c.7199T= (p.Met2400=)
c.7169T= (p.Met2390=)
c.7166T= (p.Met2389=)
c.7118T= (p.Met2373=)
c.7082T= (p.Met2361=)
c.7079T= (p.Met2360=)
c.7034T= (p.Met2345=)
n.7699T=
Xg.77508430A>CCA10457386ATRXc.7400T>G (p.Met2467Arg)
c.2498T>G (p.Met833Arg)
c.7286T>G (p.Met2429Arg)
c.*7028T>G (n.*7028T>G)
n.5720T>G
c.7397T>G (p.Met2466Arg)
c.7313T>G (p.Met2438Arg)
c.7283T>G (p.Met2428Arg)
c.7235T>G (p.Met2412Arg)
c.7196T>G (p.Met2399Arg)
c.7121T>G (p.Met2374Arg)
n.8992T>G
c.7310T>G (p.Met2437Arg)
c.7280T>G (p.Met2427Arg)
c.7232T>G (p.Met2411Arg)
c.7199T>G (p.Met2400Arg)
c.7169T>G (p.Met2390Arg)
c.7166T>G (p.Met2389Arg)
c.7118T>G (p.Met2373Arg)
c.7082T>G (p.Met2361Arg)
c.7079T>G (p.Met2360Arg)
c.7034T>G (p.Met2345Arg)
n.7699T>G
 dbSNP ExAC gnomAD v4
Xg.77508430A>GCA10457384ATRXc.7400T>C (p.Met2467Thr)
c.2498T>C (p.Met833Thr)
c.7286T>C (p.Met2429Thr)
c.*7028T>C (n.*7028T>C)
n.5720T>C
c.7397T>C (p.Met2466Thr)
c.7313T>C (p.Met2438Thr)
c.7283T>C (p.Met2428Thr)
c.7235T>C (p.Met2412Thr)
c.7196T>C (p.Met2399Thr)
c.7121T>C (p.Met2374Thr)
n.8992T>C
c.7310T>C (p.Met2437Thr)
c.7280T>C (p.Met2427Thr)
c.7232T>C (p.Met2411Thr)
c.7199T>C (p.Met2400Thr)
c.7169T>C (p.Met2390Thr)
c.7166T>C (p.Met2389Thr)
c.7118T>C (p.Met2373Thr)
c.7082T>C (p.Met2361Thr)
c.7079T>C (p.Met2360Thr)
c.7034T>C (p.Met2345Thr)
n.7699T>C
 ClinVar dbSNP ExAC gnomAD v2
Xg.77508430A>TCA10457385ATRXc.7400T>A (p.Met2467Lys)
c.2498T>A (p.Met833Lys)
c.7286T>A (p.Met2429Lys)
c.*7028T>A (n.*7028T>A)
n.5720T>A
c.7397T>A (p.Met2466Lys)
c.7313T>A (p.Met2438Lys)
c.7283T>A (p.Met2428Lys)
c.7235T>A (p.Met2412Lys)
c.7196T>A (p.Met2399Lys)
c.7121T>A (p.Met2374Lys)
n.8992T>A
c.7310T>A (p.Met2437Lys)
c.7280T>A (p.Met2427Lys)
c.7232T>A (p.Met2411Lys)
c.7199T>A (p.Met2400Lys)
c.7169T>A (p.Met2390Lys)
c.7166T>A (p.Met2389Lys)
c.7118T>A (p.Met2373Lys)
c.7082T>A (p.Met2361Lys)
c.7079T>A (p.Met2360Lys)
c.7034T>A (p.Met2345Lys)
n.7699T>A
 dbSNP ExAC
Xg.77508431T>ACA10457387ATRXc.7399A>T (p.Met2467Leu)
c.2497A>T (p.Met833Leu)
c.7285A>T (p.Met2429Leu)
c.*7027A>T (n.*7027A>T)
n.5719A>T
c.7396A>T (p.Met2466Leu)
c.7312A>T (p.Met2438Leu)
c.7282A>T (p.Met2428Leu)
c.7234A>T (p.Met2412Leu)
c.7195A>T (p.Met2399Leu)
c.7120A>T (p.Met2374Leu)
n.8991A>T
c.7309A>T (p.Met2437Leu)
c.7279A>T (p.Met2427Leu)
c.7231A>T (p.Met2411Leu)
c.7198A>T (p.Met2400Leu)
c.7168A>T (p.Met2390Leu)
c.7165A>T (p.Met2389Leu)
c.7117A>T (p.Met2373Leu)
c.7081A>T (p.Met2361Leu)
c.7078A>T (p.Met2360Leu)
c.7033A>T (p.Met2345Leu)
n.7698A>T
 dbSNP ExAC
Xg.77508431T>CCA413703903ATRXc.7399A>G (p.Met2467Val)
c.2497A>G (p.Met833Val)
c.7285A>G (p.Met2429Val)
c.*7027A>G (n.*7027A>G)
n.5719A>G
c.7396A>G (p.Met2466Val)
c.7312A>G (p.Met2438Val)
c.7282A>G (p.Met2428Val)
c.7234A>G (p.Met2412Val)
c.7195A>G (p.Met2399Val)
c.7120A>G (p.Met2374Val)
n.8991A>G
c.7309A>G (p.Met2437Val)
c.7279A>G (p.Met2427Val)
c.7231A>G (p.Met2411Val)
c.7198A>G (p.Met2400Val)
c.7168A>G (p.Met2390Val)
c.7165A>G (p.Met2389Val)
c.7117A>G (p.Met2373Val)
c.7081A>G (p.Met2361Val)
c.7078A>G (p.Met2360Val)
c.7033A>G (p.Met2345Val)
n.7698A>G
Xg.77508431T>GCA413703906ATRXc.7399A>C (p.Met2467Leu)
c.2497A>C (p.Met833Leu)
c.7285A>C (p.Met2429Leu)
c.*7027A>C (n.*7027A>C)
n.5719A>C
c.7396A>C (p.Met2466Leu)
c.7312A>C (p.Met2438Leu)
c.7282A>C (p.Met2428Leu)
c.7234A>C (p.Met2412Leu)
c.7195A>C (p.Met2399Leu)
c.7120A>C (p.Met2374Leu)
n.8991A>C
c.7309A>C (p.Met2437Leu)
c.7279A>C (p.Met2427Leu)
c.7231A>C (p.Met2411Leu)
c.7198A>C (p.Met2400Leu)
c.7168A>C (p.Met2390Leu)
c.7165A>C (p.Met2389Leu)
c.7117A>C (p.Met2373Leu)
c.7081A>C (p.Met2361Leu)
c.7078A>C (p.Met2360Leu)
c.7033A>C (p.Met2345Leu)
n.7698A>C
Xg.77508431T=CA2438929037ATRXc.7399A= (p.Met2467=)
c.2497A= (p.Met833=)
c.7285A= (p.Met2429=)
c.*7027A= (n.*7027A=)
n.5719A=
c.7396A= (p.Met2466=)
c.7312A= (p.Met2438=)
c.7282A= (p.Met2428=)
c.7234A= (p.Met2412=)
c.7195A= (p.Met2399=)
c.7120A= (p.Met2374=)
n.8991A=
c.7309A= (p.Met2437=)
c.7279A= (p.Met2427=)
c.7231A= (p.Met2411=)
c.7198A= (p.Met2400=)
c.7168A= (p.Met2390=)
c.7165A= (p.Met2389=)
c.7117A= (p.Met2373=)
c.7081A= (p.Met2361=)
c.7078A= (p.Met2360=)
c.7033A= (p.Met2345=)
n.7698A=
Xg.77508432A=CA2438929038ATRXc.7398T= (p.Gly2466=)
c.2496T= (p.Gly832=)
c.7284T= (p.Gly2428=)
c.*7026T= (n.*7026T=)
n.5718T=
c.7395T= (p.Gly2465=)
c.7311T= (p.Gly2437=)
c.7281T= (p.Gly2427=)
c.7233T= (p.Gly2411=)
c.7194T= (p.Gly2398=)
c.7119T= (p.Gly2373=)
n.8990T=
c.7308T= (p.Gly2436=)
c.7278T= (p.Gly2426=)
c.7230T= (p.Gly2410=)
c.7197T= (p.Gly2399=)
c.7167T= (p.Gly2389=)
c.7164T= (p.Gly2388=)
c.7116T= (p.Gly2372=)
c.7080T= (p.Gly2360=)
c.7077T= (p.Gly2359=)
c.7032T= (p.Gly2344=)
n.7697T=
Xg.77508432A>CCA10457388ATRXc.7398T>G (p.Gly2466=)
c.2496T>G (p.Gly832=)
c.7284T>G (p.Gly2428=)
c.*7026T>G (n.*7026T>G)
n.5718T>G
c.7395T>G (p.Gly2465=)
c.7311T>G (p.Gly2437=)
c.7281T>G (p.Gly2427=)
c.7233T>G (p.Gly2411=)
c.7194T>G (p.Gly2398=)
c.7119T>G (p.Gly2373=)
n.8990T>G
c.7308T>G (p.Gly2436=)
c.7278T>G (p.Gly2426=)
c.7230T>G (p.Gly2410=)
c.7197T>G (p.Gly2399=)
c.7167T>G (p.Gly2389=)
c.7164T>G (p.Gly2388=)
c.7116T>G (p.Gly2372=)
c.7080T>G (p.Gly2360=)
c.7077T>G (p.Gly2359=)
c.7032T>G (p.Gly2344=)
n.7697T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77508432A>GCA517374039ATRXc.7398T>C (p.Gly2466=)
c.2496T>C (p.Gly832=)
c.7284T>C (p.Gly2428=)
c.*7026T>C (n.*7026T>C)
n.5718T>C
c.7395T>C (p.Gly2465=)
c.7311T>C (p.Gly2437=)
c.7281T>C (p.Gly2427=)
c.7233T>C (p.Gly2411=)
c.7194T>C (p.Gly2398=)
c.7119T>C (p.Gly2373=)
n.8990T>C
c.7308T>C (p.Gly2436=)
c.7278T>C (p.Gly2426=)
c.7230T>C (p.Gly2410=)
c.7197T>C (p.Gly2399=)
c.7167T>C (p.Gly2389=)
c.7164T>C (p.Gly2388=)
c.7116T>C (p.Gly2372=)
c.7080T>C (p.Gly2360=)
c.7077T>C (p.Gly2359=)
c.7032T>C (p.Gly2344=)
n.7697T>C
 dbSNP
Xg.77508432A>TCA517374040ATRXc.7398T>A (p.Gly2466=)
c.2496T>A (p.Gly832=)
c.7284T>A (p.Gly2428=)
c.*7026T>A (n.*7026T>A)
n.5718T>A
c.7395T>A (p.Gly2465=)
c.7311T>A (p.Gly2437=)
c.7281T>A (p.Gly2427=)
c.7233T>A (p.Gly2411=)
c.7194T>A (p.Gly2398=)
c.7119T>A (p.Gly2373=)
n.8990T>A
c.7308T>A (p.Gly2436=)
c.7278T>A (p.Gly2426=)
c.7230T>A (p.Gly2410=)
c.7197T>A (p.Gly2399=)
c.7167T>A (p.Gly2389=)
c.7164T>A (p.Gly2388=)
c.7116T>A (p.Gly2372=)
c.7080T>A (p.Gly2360=)
c.7077T>A (p.Gly2359=)
c.7032T>A (p.Gly2344=)
n.7697T>A
 dbSNP
Xg.77508433C>ACA413703914ATRXc.7397G>T (p.Gly2466Val)
c.2495G>T (p.Gly832Val)
c.7283G>T (p.Gly2428Val)
c.*7025G>T (n.*7025G>T)
n.5717G>T
c.7394G>T (p.Gly2465Val)
c.7310G>T (p.Gly2437Val)
c.7280G>T (p.Gly2427Val)
c.7232G>T (p.Gly2411Val)
c.7193G>T (p.Gly2398Val)
c.7118G>T (p.Gly2373Val)
n.8989G>T
c.7307G>T (p.Gly2436Val)
c.7277G>T (p.Gly2426Val)
c.7229G>T (p.Gly2410Val)
c.7196G>T (p.Gly2399Val)
c.7166G>T (p.Gly2389Val)
c.7163G>T (p.Gly2388Val)
c.7115G>T (p.Gly2372Val)
c.7079G>T (p.Gly2360Val)
c.7076G>T (p.Gly2359Val)
c.7031G>T (p.Gly2344Val)
n.7696G>T
 dbSNP
Xg.77508433C=CA2438929039ATRXc.7397G= (p.Gly2466=)
c.2495G= (p.Gly832=)
c.7283G= (p.Gly2428=)
c.*7025G= (n.*7025G=)
n.5717G=
c.7394G= (p.Gly2465=)
c.7310G= (p.Gly2437=)
c.7280G= (p.Gly2427=)
c.7232G= (p.Gly2411=)
c.7193G= (p.Gly2398=)
c.7118G= (p.Gly2373=)
n.8989G=
c.7307G= (p.Gly2436=)
c.7277G= (p.Gly2426=)
c.7229G= (p.Gly2410=)
c.7196G= (p.Gly2399=)
c.7166G= (p.Gly2389=)
c.7163G= (p.Gly2388=)
c.7115G= (p.Gly2372=)
c.7079G= (p.Gly2360=)
c.7076G= (p.Gly2359=)
c.7031G= (p.Gly2344=)
n.7696G=
Xg.77508433C>GCA413703916ATRXc.7397G>C (p.Gly2466Ala)
c.2495G>C (p.Gly832Ala)
c.7283G>C (p.Gly2428Ala)
c.*7025G>C (n.*7025G>C)
n.5717G>C
c.7394G>C (p.Gly2465Ala)
c.7310G>C (p.Gly2437Ala)
c.7280G>C (p.Gly2427Ala)
c.7232G>C (p.Gly2411Ala)
c.7193G>C (p.Gly2398Ala)
c.7118G>C (p.Gly2373Ala)
n.8989G>C
c.7307G>C (p.Gly2436Ala)
c.7277G>C (p.Gly2426Ala)
c.7229G>C (p.Gly2410Ala)
c.7196G>C (p.Gly2399Ala)
c.7166G>C (p.Gly2389Ala)
c.7163G>C (p.Gly2388Ala)
c.7115G>C (p.Gly2372Ala)
c.7079G>C (p.Gly2360Ala)
c.7076G>C (p.Gly2359Ala)
c.7031G>C (p.Gly2344Ala)
n.7696G>C
 dbSNP
Xg.77508433C>TCA413703925ATRXc.7397G>A (p.Gly2466Asp)
c.2495G>A (p.Gly832Asp)
c.7283G>A (p.Gly2428Asp)
c.*7025G>A (n.*7025G>A)
n.5717G>A
c.7394G>A (p.Gly2465Asp)
c.7310G>A (p.Gly2437Asp)
c.7280G>A (p.Gly2427Asp)
c.7232G>A (p.Gly2411Asp)
c.7193G>A (p.Gly2398Asp)
c.7118G>A (p.Gly2373Asp)
n.8989G>A
c.7307G>A (p.Gly2436Asp)
c.7277G>A (p.Gly2426Asp)
c.7229G>A (p.Gly2410Asp)
c.7196G>A (p.Gly2399Asp)
c.7166G>A (p.Gly2389Asp)
c.7163G>A (p.Gly2388Asp)
c.7115G>A (p.Gly2372Asp)
c.7079G>A (p.Gly2360Asp)
c.7076G>A (p.Gly2359Asp)
c.7031G>A (p.Gly2344Asp)
n.7696G>A
 gnomAD v4
Xg.77508434C>ACA331560034ATRXc.7396G>T (p.Gly2466Cys)
c.2494G>T (p.Gly832Cys)
c.7282G>T (p.Gly2428Cys)
c.*7024G>T (n.*7024G>T)
n.5716G>T
c.7393G>T (p.Gly2465Cys)
c.7309G>T (p.Gly2437Cys)
c.7279G>T (p.Gly2427Cys)
c.7231G>T (p.Gly2411Cys)
c.7192G>T (p.Gly2398Cys)
c.7117G>T (p.Gly2373Cys)
n.8988G>T
c.7306G>T (p.Gly2436Cys)
c.7276G>T (p.Gly2426Cys)
c.7228G>T (p.Gly2410Cys)
c.7195G>T (p.Gly2399Cys)
c.7165G>T (p.Gly2389Cys)
c.7162G>T (p.Gly2388Cys)
c.7114G>T (p.Gly2372Cys)
c.7078G>T (p.Gly2360Cys)
c.7075G>T (p.Gly2359Cys)
c.7030G>T (p.Gly2344Cys)
n.7695G>T
 ClinVar dbSNP
Xg.77508434C=CA2438929040ATRXc.7396G= (p.Gly2466=)
c.2494G= (p.Gly832=)
c.7282G= (p.Gly2428=)
c.*7024G= (n.*7024G=)
n.5716G=
c.7393G= (p.Gly2465=)
c.7309G= (p.Gly2437=)
c.7279G= (p.Gly2427=)
c.7231G= (p.Gly2411=)
c.7192G= (p.Gly2398=)
c.7117G= (p.Gly2373=)
n.8988G=
c.7306G= (p.Gly2436=)
c.7276G= (p.Gly2426=)
c.7228G= (p.Gly2410=)
c.7195G= (p.Gly2399=)
c.7165G= (p.Gly2389=)
c.7162G= (p.Gly2388=)
c.7114G= (p.Gly2372=)
c.7078G= (p.Gly2360=)
c.7075G= (p.Gly2359=)
c.7030G= (p.Gly2344=)
n.7695G=
Xg.77508434C>GCA413703933ATRXc.7396G>C (p.Gly2466Arg)
c.2494G>C (p.Gly832Arg)
c.7282G>C (p.Gly2428Arg)
c.*7024G>C (n.*7024G>C)
n.5716G>C
c.7393G>C (p.Gly2465Arg)
c.7309G>C (p.Gly2437Arg)
c.7279G>C (p.Gly2427Arg)
c.7231G>C (p.Gly2411Arg)
c.7192G>C (p.Gly2398Arg)
c.7117G>C (p.Gly2373Arg)
n.8988G>C
c.7306G>C (p.Gly2436Arg)
c.7276G>C (p.Gly2426Arg)
c.7228G>C (p.Gly2410Arg)
c.7195G>C (p.Gly2399Arg)
c.7165G>C (p.Gly2389Arg)
c.7162G>C (p.Gly2388Arg)
c.7114G>C (p.Gly2372Arg)
c.7078G>C (p.Gly2360Arg)
c.7075G>C (p.Gly2359Arg)
c.7030G>C (p.Gly2344Arg)
n.7695G>C
Xg.77508434C>TCA413703929ATRXc.7396G>A (p.Gly2466Ser)
c.2494G>A (p.Gly832Ser)
c.7282G>A (p.Gly2428Ser)
c.*7024G>A (n.*7024G>A)
n.5716G>A
c.7393G>A (p.Gly2465Ser)
c.7309G>A (p.Gly2437Ser)
c.7279G>A (p.Gly2427Ser)
c.7231G>A (p.Gly2411Ser)
c.7192G>A (p.Gly2398Ser)
c.7117G>A (p.Gly2373Ser)
n.8988G>A
c.7306G>A (p.Gly2436Ser)
c.7276G>A (p.Gly2426Ser)
c.7228G>A (p.Gly2410Ser)
c.7195G>A (p.Gly2399Ser)
c.7165G>A (p.Gly2389Ser)
c.7162G>A (p.Gly2388Ser)
c.7114G>A (p.Gly2372Ser)
c.7078G>A (p.Gly2360Ser)
c.7075G>A (p.Gly2359Ser)
c.7030G>A (p.Gly2344Ser)
n.7695G>A
 ClinVar dbSNP gnomAD v4
Xg.77508436_77508454delCA2694139231ATRXc.7378_7396del (p.Tyr2460ValfsTer14)
c.2476_2494del (p.Tyr826ValfsTer14)
c.7264_7282del (p.Tyr2422ValfsTer14)
c.*7006_*7024del (n.*7006_*7024del)
n.5698_5716del
c.7375_7393del (p.Tyr2459ValfsTer14)
c.7291_7309del (p.Tyr2431ValfsTer14)
c.7261_7279del (p.Tyr2421ValfsTer14)
c.7213_7231del (p.Tyr2405ValfsTer14)
c.7174_7192del (p.Tyr2392ValfsTer14)
c.7099_7117del (p.Tyr2367ValfsTer14)
n.8970_8988del
c.7288_7306del (p.Tyr2430ValfsTer14)
c.7258_7276del (p.Tyr2420ValfsTer14)
c.7210_7228del (p.Tyr2404ValfsTer14)
c.7177_7195del (p.Tyr2393ValfsTer14)
c.7147_7165del (p.Tyr2383ValfsTer14)
c.7144_7162del (p.Tyr2382ValfsTer14)
c.7096_7114del (p.Tyr2366ValfsTer14)
c.7060_7078del (p.Tyr2354ValfsTer14)
c.7057_7075del (p.Tyr2353ValfsTer14)
c.7012_7030del (p.Tyr2338ValfsTer14)
n.7677_7695del
 gnomAD v4
Xg.77508435A=CA2438929042ATRXc.7395T= (p.Gly2465=)
c.2493T= (p.Gly831=)
c.7281T= (p.Gly2427=)
c.*7023T= (n.*7023T=)
n.5715T=
c.7392T= (p.Gly2464=)
c.7308T= (p.Gly2436=)
c.7278T= (p.Gly2426=)
c.7230T= (p.Gly2410=)
c.7191T= (p.Gly2397=)
c.7116T= (p.Gly2372=)
n.8987T=
c.7305T= (p.Gly2435=)
c.7275T= (p.Gly2425=)
c.7227T= (p.Gly2409=)
c.7194T= (p.Gly2398=)
c.7164T= (p.Gly2388=)
c.7161T= (p.Gly2387=)
c.7113T= (p.Gly2371=)
c.7077T= (p.Gly2359=)
c.7074T= (p.Gly2358=)
c.7029T= (p.Gly2343=)
n.7694T=
Xg.77508435A>CCA10457389ATRXc.7395T>G (p.Gly2465=)
c.2493T>G (p.Gly831=)
c.7281T>G (p.Gly2427=)
c.*7023T>G (n.*7023T>G)
n.5715T>G
c.7392T>G (p.Gly2464=)
c.7308T>G (p.Gly2436=)
c.7278T>G (p.Gly2426=)
c.7230T>G (p.Gly2410=)
c.7191T>G (p.Gly2397=)
c.7116T>G (p.Gly2372=)
n.8987T>G
c.7305T>G (p.Gly2435=)
c.7275T>G (p.Gly2425=)
c.7227T>G (p.Gly2409=)
c.7194T>G (p.Gly2398=)
c.7164T>G (p.Gly2388=)
c.7161T>G (p.Gly2387=)
c.7113T>G (p.Gly2371=)
c.7077T>G (p.Gly2359=)
c.7074T>G (p.Gly2358=)
c.7029T>G (p.Gly2343=)
n.7694T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77508435A>GCA517374044ATRXc.7395T>C (p.Gly2465=)
c.2493T>C (p.Gly831=)
c.7281T>C (p.Gly2427=)
c.*7023T>C (n.*7023T>C)
n.5715T>C
c.7392T>C (p.Gly2464=)
c.7308T>C (p.Gly2436=)
c.7278T>C (p.Gly2426=)
c.7230T>C (p.Gly2410=)
c.7191T>C (p.Gly2397=)
c.7116T>C (p.Gly2372=)
n.8987T>C
c.7305T>C (p.Gly2435=)
c.7275T>C (p.Gly2425=)
c.7227T>C (p.Gly2409=)
c.7194T>C (p.Gly2398=)
c.7164T>C (p.Gly2388=)
c.7161T>C (p.Gly2387=)
c.7113T>C (p.Gly2371=)
c.7077T>C (p.Gly2359=)
c.7074T>C (p.Gly2358=)
c.7029T>C (p.Gly2343=)
n.7694T>C
 dbSNP
Xg.77508435A>TCA517374045ATRXc.7395T>A (p.Gly2465=)
c.2493T>A (p.Gly831=)
c.7281T>A (p.Gly2427=)
c.*7023T>A (n.*7023T>A)
n.5715T>A
c.7392T>A (p.Gly2464=)
c.7308T>A (p.Gly2436=)
c.7278T>A (p.Gly2426=)
c.7230T>A (p.Gly2410=)
c.7191T>A (p.Gly2397=)
c.7116T>A (p.Gly2372=)
n.8987T>A
c.7305T>A (p.Gly2435=)
c.7275T>A (p.Gly2425=)
c.7227T>A (p.Gly2409=)
c.7194T>A (p.Gly2398=)
c.7164T>A (p.Gly2388=)
c.7161T>A (p.Gly2387=)
c.7113T>A (p.Gly2371=)
c.7077T>A (p.Gly2359=)
c.7074T>A (p.Gly2358=)
c.7029T>A (p.Gly2343=)
n.7694T>A
Xg.77508435_77508436delinsACCA2438929041ATRXc.7394_7395delinsGT (p.Gly2465=)
c.2492_2493delinsGT (p.Gly831=)
c.7280_7281delinsGT (p.Gly2427=)
c.*7022_*7023delinsGT (n.*7022_*7023delinsGT)
n.5714_5715delinsGT
c.7391_7392delinsGT (p.Gly2464=)
c.7307_7308delinsGT (p.Gly2436=)
c.7277_7278delinsGT (p.Gly2426=)
c.7229_7230delinsGT (p.Gly2410=)
c.7190_7191delinsGT (p.Gly2397=)
c.7115_7116delinsGT (p.Gly2372=)
n.8986_8987delinsGT
c.7304_7305delinsGT (p.Gly2435=)
c.7274_7275delinsGT (p.Gly2425=)
c.7226_7227delinsGT (p.Gly2409=)
c.7193_7194delinsGT (p.Gly2398=)
c.7163_7164delinsGT (p.Gly2388=)
c.7160_7161delinsGT (p.Gly2387=)
c.7112_7113delinsGT (p.Gly2371=)
c.7076_7077delinsGT (p.Gly2359=)
c.7073_7074delinsGT (p.Gly2358=)
c.7028_7029delinsGT (p.Gly2343=)
n.7693_7694delinsGT
Xg.77508436C>ACA413703952ATRXc.7394G>T (p.Gly2465Val)
c.2492G>T (p.Gly831Val)
c.7280G>T (p.Gly2427Val)
c.*7022G>T (n.*7022G>T)
n.5714G>T
c.7391G>T (p.Gly2464Val)
c.7307G>T (p.Gly2436Val)
c.7277G>T (p.Gly2426Val)
c.7229G>T (p.Gly2410Val)
c.7190G>T (p.Gly2397Val)
c.7115G>T (p.Gly2372Val)
n.8986G>T
c.7304G>T (p.Gly2435Val)
c.7274G>T (p.Gly2425Val)
c.7226G>T (p.Gly2409Val)
c.7193G>T (p.Gly2398Val)
c.7163G>T (p.Gly2388Val)
c.7160G>T (p.Gly2387Val)
c.7112G>T (p.Gly2371Val)
c.7076G>T (p.Gly2359Val)
c.7073G>T (p.Gly2358Val)
c.7028G>T (p.Gly2343Val)
n.7693G>T
Xg.77508436C>GCA413703955ATRXc.7394G>C (p.Gly2465Ala)
c.2492G>C (p.Gly831Ala)
c.7280G>C (p.Gly2427Ala)
c.*7022G>C (n.*7022G>C)
n.5714G>C
c.7391G>C (p.Gly2464Ala)
c.7307G>C (p.Gly2436Ala)
c.7277G>C (p.Gly2426Ala)
c.7229G>C (p.Gly2410Ala)
c.7190G>C (p.Gly2397Ala)
c.7115G>C (p.Gly2372Ala)
n.8986G>C
c.7304G>C (p.Gly2435Ala)
c.7274G>C (p.Gly2425Ala)
c.7226G>C (p.Gly2409Ala)
c.7193G>C (p.Gly2398Ala)
c.7163G>C (p.Gly2388Ala)
c.7160G>C (p.Gly2387Ala)
c.7112G>C (p.Gly2371Ala)
c.7076G>C (p.Gly2359Ala)
c.7073G>C (p.Gly2358Ala)
c.7028G>C (p.Gly2343Ala)
n.7693G>C
 gnomAD v4
Xg.77508436C>TCA413703956ATRXc.7394G>A (p.Gly2465Asp)
c.2492G>A (p.Gly831Asp)
c.7280G>A (p.Gly2427Asp)
c.*7022G>A (n.*7022G>A)
n.5714G>A
c.7391G>A (p.Gly2464Asp)
c.7307G>A (p.Gly2436Asp)
c.7277G>A (p.Gly2426Asp)
c.7229G>A (p.Gly2410Asp)
c.7190G>A (p.Gly2397Asp)
c.7115G>A (p.Gly2372Asp)
n.8986G>A
c.7304G>A (p.Gly2435Asp)
c.7274G>A (p.Gly2425Asp)
c.7226G>A (p.Gly2409Asp)
c.7193G>A (p.Gly2398Asp)
c.7163G>A (p.Gly2388Asp)
c.7160G>A (p.Gly2387Asp)
c.7112G>A (p.Gly2371Asp)
c.7076G>A (p.Gly2359Asp)
c.7073G>A (p.Gly2358Asp)
c.7028G>A (p.Gly2343Asp)
n.7693G>A
 gnomAD v4
Xg.77508437delCA221006ATRXc.7394del (p.Gly2465ValfsTer15)
c.2492del (p.Gly831ValfsTer15)
c.7280del (p.Gly2427ValfsTer15)
c.*7022del (n.*7022del)
n.5714del
c.7391del (p.Gly2464ValfsTer15)
c.7307del (p.Gly2436ValfsTer15)
c.7277del (p.Gly2426ValfsTer15)
c.7229del (p.Gly2410ValfsTer15)
c.7190del (p.Gly2397ValfsTer15)
c.7115del (p.Gly2372ValfsTer15)
n.8986del
c.7304del (p.Gly2435ValfsTer15)
c.7274del (p.Gly2425ValfsTer15)
c.7226del (p.Gly2409ValfsTer15)
c.7193del (p.Gly2398ValfsTer15)
c.7163del (p.Gly2388ValfsTer15)
c.7160del (p.Gly2387ValfsTer15)
c.7112del (p.Gly2371ValfsTer15)
c.7076del (p.Gly2359ValfsTer15)
c.7073del (p.Gly2358ValfsTer15)
c.7028del (p.Gly2343ValfsTer15)
n.7693del
 ClinVar dbSNP
Xg.77508437C>ACA413703960ATRXc.7393G>T (p.Gly2465Cys)
c.2491G>T (p.Gly831Cys)
c.7279G>T (p.Gly2427Cys)
c.*7021G>T (n.*7021G>T)
n.5713G>T
c.7390G>T (p.Gly2464Cys)
c.7306G>T (p.Gly2436Cys)
c.7276G>T (p.Gly2426Cys)
c.7228G>T (p.Gly2410Cys)
c.7189G>T (p.Gly2397Cys)
c.7114G>T (p.Gly2372Cys)
n.8985G>T
c.7303G>T (p.Gly2435Cys)
c.7273G>T (p.Gly2425Cys)
c.7225G>T (p.Gly2409Cys)
c.7192G>T (p.Gly2398Cys)
c.7162G>T (p.Gly2388Cys)
c.7159G>T (p.Gly2387Cys)
c.7111G>T (p.Gly2371Cys)
c.7075G>T (p.Gly2359Cys)
c.7072G>T (p.Gly2358Cys)
c.7027G>T (p.Gly2343Cys)
n.7692G>T
 dbSNP
Xg.77508437C=CA2438929043ATRXc.7393G= (p.Gly2465=)
c.2491G= (p.Gly831=)
c.7279G= (p.Gly2427=)
c.*7021G= (n.*7021G=)
n.5713G=
c.7390G= (p.Gly2464=)
c.7306G= (p.Gly2436=)
c.7276G= (p.Gly2426=)
c.7228G= (p.Gly2410=)
c.7189G= (p.Gly2397=)
c.7114G= (p.Gly2372=)
n.8985G=
c.7303G= (p.Gly2435=)
c.7273G= (p.Gly2425=)
c.7225G= (p.Gly2409=)
c.7192G= (p.Gly2398=)
c.7162G= (p.Gly2388=)
c.7159G= (p.Gly2387=)
c.7111G= (p.Gly2371=)
c.7075G= (p.Gly2359=)
c.7072G= (p.Gly2358=)
c.7027G= (p.Gly2343=)
n.7692G=
Xg.77508437C>GCA413703963ATRXc.7393G>C (p.Gly2465Arg)
c.2491G>C (p.Gly831Arg)
c.7279G>C (p.Gly2427Arg)
c.*7021G>C (n.*7021G>C)
n.5713G>C
c.7390G>C (p.Gly2464Arg)
c.7306G>C (p.Gly2436Arg)
c.7276G>C (p.Gly2426Arg)
c.7228G>C (p.Gly2410Arg)
c.7189G>C (p.Gly2397Arg)
c.7114G>C (p.Gly2372Arg)
n.8985G>C
c.7303G>C (p.Gly2435Arg)
c.7273G>C (p.Gly2425Arg)
c.7225G>C (p.Gly2409Arg)
c.7192G>C (p.Gly2398Arg)
c.7162G>C (p.Gly2388Arg)
c.7159G>C (p.Gly2387Arg)
c.7111G>C (p.Gly2371Arg)
c.7075G>C (p.Gly2359Arg)
c.7072G>C (p.Gly2358Arg)
c.7027G>C (p.Gly2343Arg)
n.7692G>C
Xg.77508437C>TCA10457390ATRXc.7393G>A (p.Gly2465Ser)
c.2491G>A (p.Gly831Ser)
c.7279G>A (p.Gly2427Ser)
c.*7021G>A (n.*7021G>A)
n.5713G>A
c.7390G>A (p.Gly2464Ser)
c.7306G>A (p.Gly2436Ser)
c.7276G>A (p.Gly2426Ser)
c.7228G>A (p.Gly2410Ser)
c.7189G>A (p.Gly2397Ser)
c.7114G>A (p.Gly2372Ser)
n.8985G>A
c.7303G>A (p.Gly2435Ser)
c.7273G>A (p.Gly2425Ser)
c.7225G>A (p.Gly2409Ser)
c.7192G>A (p.Gly2398Ser)
c.7162G>A (p.Gly2388Ser)
c.7159G>A (p.Gly2387Ser)
c.7111G>A (p.Gly2371Ser)
c.7075G>A (p.Gly2359Ser)
c.7072G>A (p.Gly2358Ser)
c.7027G>A (p.Gly2343Ser)
n.7692G>A
 dbSNP ExAC gnomAD v2
Xg.77508438_77508460delCA2580612367ATRXc.7371_7393del (p.Gly2458TrpfsTer?)
c.2469_2491del (p.Gly824TrpfsTer?)
c.7257_7279del (p.Gly2420TrpfsTer?)
c.*6999_*7021del (n.*6999_*7021del)
n.5691_5713del
c.7368_7390del (p.Gly2457TrpfsTer?)
c.7284_7306del (p.Gly2429TrpfsTer?)
c.7254_7276del (p.Gly2419TrpfsTer?)
c.7206_7228del (p.Gly2403TrpfsTer?)
c.7167_7189del (p.Gly2390TrpfsTer?)
c.7092_7114del (p.Gly2365TrpfsTer?)
n.8963_8985del
c.7281_7303del (p.Gly2428TrpfsTer?)
c.7251_7273del (p.Gly2418TrpfsTer?)
c.7203_7225del (p.Gly2402TrpfsTer?)
c.7170_7192del (p.Gly2391TrpfsTer?)
c.7140_7162del (p.Gly2381TrpfsTer?)
c.7137_7159del (p.Gly2380TrpfsTer?)
c.7089_7111del (p.Gly2364TrpfsTer?)
c.7053_7075del (p.Gly2352TrpfsTer?)
c.7050_7072del (p.Gly2351TrpfsTer?)
c.7005_7027del (p.Gly2336TrpfsTer?)
n.7670_7692del
 ClinVar
Xg.77508438A>CCA517374049ATRXc.7392T>G (p.Ala2464=)
c.2490T>G (p.Ala830=)
c.7278T>G (p.Ala2426=)
c.*7020T>G (n.*7020T>G)
n.5712T>G
c.7389T>G (p.Ala2463=)
c.7305T>G (p.Ala2435=)
c.7275T>G (p.Ala2425=)
c.7227T>G (p.Ala2409=)
c.7188T>G (p.Ala2396=)
c.7113T>G (p.Ala2371=)
n.8984T>G
c.7302T>G (p.Ala2434=)
c.7272T>G (p.Ala2424=)
c.7224T>G (p.Ala2408=)
c.7191T>G (p.Ala2397=)
c.7161T>G (p.Ala2387=)
c.7158T>G (p.Ala2386=)
c.7110T>G (p.Ala2370=)
c.7074T>G (p.Ala2358=)
c.7071T>G (p.Ala2357=)
c.7026T>G (p.Ala2342=)
n.7691T>G
Xg.77508438A>GCA517374050ATRXc.7392T>C (p.Ala2464=)
c.2490T>C (p.Ala830=)
c.7278T>C (p.Ala2426=)
c.*7020T>C (n.*7020T>C)
n.5712T>C
c.7389T>C (p.Ala2463=)
c.7305T>C (p.Ala2435=)
c.7275T>C (p.Ala2425=)
c.7227T>C (p.Ala2409=)
c.7188T>C (p.Ala2396=)
c.7113T>C (p.Ala2371=)
n.8984T>C
c.7302T>C (p.Ala2434=)
c.7272T>C (p.Ala2424=)
c.7224T>C (p.Ala2408=)
c.7191T>C (p.Ala2397=)
c.7161T>C (p.Ala2387=)
c.7158T>C (p.Ala2386=)
c.7110T>C (p.Ala2370=)
c.7074T>C (p.Ala2358=)
c.7071T>C (p.Ala2357=)
c.7026T>C (p.Ala2342=)
n.7691T>C
 dbSNP
Xg.77508438A>TCA517374052ATRXc.7392T>A (p.Ala2464=)
c.2490T>A (p.Ala830=)
c.7278T>A (p.Ala2426=)
c.*7020T>A (n.*7020T>A)
n.5712T>A
c.7389T>A (p.Ala2463=)
c.7305T>A (p.Ala2435=)
c.7275T>A (p.Ala2425=)
c.7227T>A (p.Ala2409=)
c.7188T>A (p.Ala2396=)
c.7113T>A (p.Ala2371=)
n.8984T>A
c.7302T>A (p.Ala2434=)
c.7272T>A (p.Ala2424=)
c.7224T>A (p.Ala2408=)
c.7191T>A (p.Ala2397=)
c.7161T>A (p.Ala2387=)
c.7158T>A (p.Ala2386=)
c.7110T>A (p.Ala2370=)
c.7074T>A (p.Ala2358=)
c.7071T>A (p.Ala2357=)
c.7026T>A (p.Ala2342=)
n.7691T>A
Xg.77508439G>ACA413703965ATRXc.7391C>T (p.Ala2464Val)
c.2489C>T (p.Ala830Val)
c.7277C>T (p.Ala2426Val)
c.*7019C>T (n.*7019C>T)
n.5711C>T
c.7388C>T (p.Ala2463Val)
c.7304C>T (p.Ala2435Val)
c.7274C>T (p.Ala2425Val)
c.7226C>T (p.Ala2409Val)
c.7187C>T (p.Ala2396Val)
c.7112C>T (p.Ala2371Val)
n.8983C>T
c.7301C>T (p.Ala2434Val)
c.7271C>T (p.Ala2424Val)
c.7223C>T (p.Ala2408Val)
c.7190C>T (p.Ala2397Val)
c.7160C>T (p.Ala2387Val)
c.7157C>T (p.Ala2386Val)
c.7109C>T (p.Ala2370Val)
c.7073C>T (p.Ala2358Val)
c.7070C>T (p.Ala2357Val)
c.7025C>T (p.Ala2342Val)
n.7690C>T
Xg.77508439G>CCA413703966ATRXc.7391C>G (p.Ala2464Gly)
c.2489C>G (p.Ala830Gly)
c.7277C>G (p.Ala2426Gly)
c.*7019C>G (n.*7019C>G)
n.5711C>G
c.7388C>G (p.Ala2463Gly)
c.7304C>G (p.Ala2435Gly)
c.7274C>G (p.Ala2425Gly)
c.7226C>G (p.Ala2409Gly)
c.7187C>G (p.Ala2396Gly)
c.7112C>G (p.Ala2371Gly)
n.8983C>G
c.7301C>G (p.Ala2434Gly)
c.7271C>G (p.Ala2424Gly)
c.7223C>G (p.Ala2408Gly)
c.7190C>G (p.Ala2397Gly)
c.7160C>G (p.Ala2387Gly)
c.7157C>G (p.Ala2386Gly)
c.7109C>G (p.Ala2370Gly)
c.7073C>G (p.Ala2358Gly)
c.7070C>G (p.Ala2357Gly)
c.7025C>G (p.Ala2342Gly)
n.7690C>G
 dbSNP
Xg.77508439G>TCA413703968ATRXc.7391C>A (p.Ala2464Asp)
c.2489C>A (p.Ala830Asp)
c.7277C>A (p.Ala2426Asp)
c.*7019C>A (n.*7019C>A)
n.5711C>A
c.7388C>A (p.Ala2463Asp)
c.7304C>A (p.Ala2435Asp)
c.7274C>A (p.Ala2425Asp)
c.7226C>A (p.Ala2409Asp)
c.7187C>A (p.Ala2396Asp)
c.7112C>A (p.Ala2371Asp)
n.8983C>A
c.7301C>A (p.Ala2434Asp)
c.7271C>A (p.Ala2424Asp)
c.7223C>A (p.Ala2408Asp)
c.7190C>A (p.Ala2397Asp)
c.7160C>A (p.Ala2387Asp)
c.7157C>A (p.Ala2386Asp)
c.7109C>A (p.Ala2370Asp)
c.7073C>A (p.Ala2358Asp)
c.7070C>A (p.Ala2357Asp)
c.7025C>A (p.Ala2342Asp)
n.7690C>A
Xg.77508440C>ACA413703969ATRXc.7390G>T (p.Ala2464Ser)
c.2488G>T (p.Ala830Ser)
c.7276G>T (p.Ala2426Ser)
c.*7018G>T (n.*7018G>T)
n.5710G>T
c.7387G>T (p.Ala2463Ser)
c.7303G>T (p.Ala2435Ser)
c.7273G>T (p.Ala2425Ser)
c.7225G>T (p.Ala2409Ser)
c.7186G>T (p.Ala2396Ser)
c.7111G>T (p.Ala2371Ser)
n.8982G>T
c.7300G>T (p.Ala2434Ser)
c.7270G>T (p.Ala2424Ser)
c.7222G>T (p.Ala2408Ser)
c.7189G>T (p.Ala2397Ser)
c.7159G>T (p.Ala2387Ser)
c.7156G>T (p.Ala2386Ser)
c.7108G>T (p.Ala2370Ser)
c.7072G>T (p.Ala2358Ser)
c.7069G>T (p.Ala2357Ser)
c.7024G>T (p.Ala2342Ser)
n.7689G>T
 dbSNP
Xg.77508440C>GCA413703971ATRXc.7390G>C (p.Ala2464Pro)
c.2488G>C (p.Ala830Pro)
c.7276G>C (p.Ala2426Pro)
c.*7018G>C (n.*7018G>C)
n.5710G>C
c.7387G>C (p.Ala2463Pro)
c.7303G>C (p.Ala2435Pro)
c.7273G>C (p.Ala2425Pro)
c.7225G>C (p.Ala2409Pro)
c.7186G>C (p.Ala2396Pro)
c.7111G>C (p.Ala2371Pro)
n.8982G>C
c.7300G>C (p.Ala2434Pro)
c.7270G>C (p.Ala2424Pro)
c.7222G>C (p.Ala2408Pro)
c.7189G>C (p.Ala2397Pro)
c.7159G>C (p.Ala2387Pro)
c.7156G>C (p.Ala2386Pro)
c.7108G>C (p.Ala2370Pro)
c.7072G>C (p.Ala2358Pro)
c.7069G>C (p.Ala2357Pro)
c.7024G>C (p.Ala2342Pro)
n.7689G>C
Xg.77508440C>TCA413703972ATRXc.7390G>A (p.Ala2464Thr)
c.2488G>A (p.Ala830Thr)
c.7276G>A (p.Ala2426Thr)
c.*7018G>A (n.*7018G>A)
n.5710G>A
c.7387G>A (p.Ala2463Thr)
c.7303G>A (p.Ala2435Thr)
c.7273G>A (p.Ala2425Thr)
c.7225G>A (p.Ala2409Thr)
c.7186G>A (p.Ala2396Thr)
c.7111G>A (p.Ala2371Thr)
n.8982G>A
c.7300G>A (p.Ala2434Thr)
c.7270G>A (p.Ala2424Thr)
c.7222G>A (p.Ala2408Thr)
c.7189G>A (p.Ala2397Thr)
c.7159G>A (p.Ala2387Thr)
c.7156G>A (p.Ala2386Thr)
c.7108G>A (p.Ala2370Thr)
c.7072G>A (p.Ala2358Thr)
c.7069G>A (p.Ala2357Thr)
c.7024G>A (p.Ala2342Thr)
n.7689G>A
 ClinVar
Xg.77508441C>ACA517374053ATRXc.7389G>T (p.Val2463=)
c.2487G>T (p.Val829=)
c.7275G>T (p.Val2425=)
c.*7017G>T (n.*7017G>T)
n.5709G>T
c.7386G>T (p.Val2462=)
c.7302G>T (p.Val2434=)
c.7272G>T (p.Val2424=)
c.7224G>T (p.Val2408=)
c.7185G>T (p.Val2395=)
c.7110G>T (p.Val2370=)
n.8981G>T
c.7299G>T (p.Val2433=)
c.7269G>T (p.Val2423=)
c.7221G>T (p.Val2407=)
c.7188G>T (p.Val2396=)
c.7158G>T (p.Val2386=)
c.7155G>T (p.Val2385=)
c.7107G>T (p.Val2369=)
c.7071G>T (p.Val2357=)
c.7068G>T (p.Val2356=)
c.7023G>T (p.Val2341=)
n.7688G>T
Xg.77508441C>GCA517374055ATRXc.7389G>C (p.Val2463=)
c.2487G>C (p.Val829=)
c.7275G>C (p.Val2425=)
c.*7017G>C (n.*7017G>C)
n.5709G>C
c.7386G>C (p.Val2462=)
c.7302G>C (p.Val2434=)
c.7272G>C (p.Val2424=)
c.7224G>C (p.Val2408=)
c.7185G>C (p.Val2395=)
c.7110G>C (p.Val2370=)
n.8981G>C
c.7299G>C (p.Val2433=)
c.7269G>C (p.Val2423=)
c.7221G>C (p.Val2407=)
c.7188G>C (p.Val2396=)
c.7158G>C (p.Val2386=)
c.7155G>C (p.Val2385=)
c.7107G>C (p.Val2369=)
c.7071G>C (p.Val2357=)
c.7068G>C (p.Val2356=)
c.7023G>C (p.Val2341=)
n.7688G>C
Xg.77508441C>TCA517374054ATRXc.7389G>A (p.Val2463=)
c.2487G>A (p.Val829=)
c.7275G>A (p.Val2425=)
c.*7017G>A (n.*7017G>A)
n.5709G>A
c.7386G>A (p.Val2462=)
c.7302G>A (p.Val2434=)
c.7272G>A (p.Val2424=)
c.7224G>A (p.Val2408=)
c.7185G>A (p.Val2395=)
c.7110G>A (p.Val2370=)
n.8981G>A
c.7299G>A (p.Val2433=)
c.7269G>A (p.Val2423=)
c.7221G>A (p.Val2407=)
c.7188G>A (p.Val2396=)
c.7158G>A (p.Val2386=)
c.7155G>A (p.Val2385=)
c.7107G>A (p.Val2369=)
c.7071G>A (p.Val2357=)
c.7068G>A (p.Val2356=)
c.7023G>A (p.Val2341=)
n.7688G>A
 dbSNP gnomAD v4
Xg.77508442A>CCA413703975ATRXc.7388T>G (p.Val2463Gly)
c.2486T>G (p.Val829Gly)
c.7274T>G (p.Val2425Gly)
c.*7016T>G (n.*7016T>G)
n.5708T>G
c.7385T>G (p.Val2462Gly)
c.7301T>G (p.Val2434Gly)
c.7271T>G (p.Val2424Gly)
c.7223T>G (p.Val2408Gly)
c.7184T>G (p.Val2395Gly)
c.7109T>G (p.Val2370Gly)
n.8980T>G
c.7298T>G (p.Val2433Gly)
c.7268T>G (p.Val2423Gly)
c.7220T>G (p.Val2407Gly)
c.7187T>G (p.Val2396Gly)
c.7157T>G (p.Val2386Gly)
c.7154T>G (p.Val2385Gly)
c.7106T>G (p.Val2369Gly)
c.7070T>G (p.Val2357Gly)
c.7067T>G (p.Val2356Gly)
c.7022T>G (p.Val2341Gly)
n.7687T>G
Xg.77508442A>GCA413703974ATRXc.7388T>C (p.Val2463Ala)
c.2486T>C (p.Val829Ala)
c.7274T>C (p.Val2425Ala)
c.*7016T>C (n.*7016T>C)
n.5708T>C
c.7385T>C (p.Val2462Ala)
c.7301T>C (p.Val2434Ala)
c.7271T>C (p.Val2424Ala)
c.7223T>C (p.Val2408Ala)
c.7184T>C (p.Val2395Ala)
c.7109T>C (p.Val2370Ala)
n.8980T>C
c.7298T>C (p.Val2433Ala)
c.7268T>C (p.Val2423Ala)
c.7220T>C (p.Val2407Ala)
c.7187T>C (p.Val2396Ala)
c.7157T>C (p.Val2386Ala)
c.7154T>C (p.Val2385Ala)
c.7106T>C (p.Val2369Ala)
c.7070T>C (p.Val2357Ala)
c.7067T>C (p.Val2356Ala)
c.7022T>C (p.Val2341Ala)
n.7687T>C
Xg.77508442A>TCA413703973ATRXc.7388T>A (p.Val2463Glu)
c.2486T>A (p.Val829Glu)
c.7274T>A (p.Val2425Glu)
c.*7016T>A (n.*7016T>A)
n.5708T>A
c.7385T>A (p.Val2462Glu)
c.7301T>A (p.Val2434Glu)
c.7271T>A (p.Val2424Glu)
c.7223T>A (p.Val2408Glu)
c.7184T>A (p.Val2395Glu)
c.7109T>A (p.Val2370Glu)
n.8980T>A
c.7298T>A (p.Val2433Glu)
c.7268T>A (p.Val2423Glu)
c.7220T>A (p.Val2407Glu)
c.7187T>A (p.Val2396Glu)
c.7157T>A (p.Val2386Glu)
c.7154T>A (p.Val2385Glu)
c.7106T>A (p.Val2369Glu)
c.7070T>A (p.Val2357Glu)
c.7067T>A (p.Val2356Glu)
c.7022T>A (p.Val2341Glu)
n.7687T>A
 dbSNP
Xg.77508443C>ACA413703976ATRXc.7387G>T (p.Val2463Leu)
c.2485G>T (p.Val829Leu)
c.7273G>T (p.Val2425Leu)
c.*7015G>T (n.*7015G>T)
n.5707G>T
c.7384G>T (p.Val2462Leu)
c.7300G>T (p.Val2434Leu)
c.7270G>T (p.Val2424Leu)
c.7222G>T (p.Val2408Leu)
c.7183G>T (p.Val2395Leu)
c.7108G>T (p.Val2370Leu)
n.8979G>T
c.7297G>T (p.Val2433Leu)
c.7267G>T (p.Val2423Leu)
c.7219G>T (p.Val2407Leu)
c.7186G>T (p.Val2396Leu)
c.7156G>T (p.Val2386Leu)
c.7153G>T (p.Val2385Leu)
c.7105G>T (p.Val2369Leu)
c.7069G>T (p.Val2357Leu)
c.7066G>T (p.Val2356Leu)
c.7021G>T (p.Val2341Leu)
n.7686G>T
Xg.77508443C>GCA413703977ATRXc.7387G>C (p.Val2463Leu)
c.2485G>C (p.Val829Leu)
c.7273G>C (p.Val2425Leu)
c.*7015G>C (n.*7015G>C)
n.5707G>C
c.7384G>C (p.Val2462Leu)
c.7300G>C (p.Val2434Leu)
c.7270G>C (p.Val2424Leu)
c.7222G>C (p.Val2408Leu)
c.7183G>C (p.Val2395Leu)
c.7108G>C (p.Val2370Leu)
n.8979G>C
c.7297G>C (p.Val2433Leu)
c.7267G>C (p.Val2423Leu)
c.7219G>C (p.Val2407Leu)
c.7186G>C (p.Val2396Leu)
c.7156G>C (p.Val2386Leu)
c.7153G>C (p.Val2385Leu)
c.7105G>C (p.Val2369Leu)
c.7069G>C (p.Val2357Leu)
c.7066G>C (p.Val2356Leu)
c.7021G>C (p.Val2341Leu)
n.7686G>C
Xg.77508443C>TCA413703978ATRXc.7387G>A (p.Val2463Met)
c.2485G>A (p.Val829Met)
c.7273G>A (p.Val2425Met)
c.*7015G>A (n.*7015G>A)
n.5707G>A
c.7384G>A (p.Val2462Met)
c.7300G>A (p.Val2434Met)
c.7270G>A (p.Val2424Met)
c.7222G>A (p.Val2408Met)
c.7183G>A (p.Val2395Met)
c.7108G>A (p.Val2370Met)
n.8979G>A
c.7297G>A (p.Val2433Met)
c.7267G>A (p.Val2423Met)
c.7219G>A (p.Val2407Met)
c.7186G>A (p.Val2396Met)
c.7156G>A (p.Val2386Met)
c.7153G>A (p.Val2385Met)
c.7105G>A (p.Val2369Met)
c.7069G>A (p.Val2357Met)
c.7066G>A (p.Val2356Met)
c.7021G>A (p.Val2341Met)
n.7686G>A
Xg.77508444T>ACA517374056ATRXc.7386A>T (p.Pro2462=)
c.2484A>T (p.Pro828=)
c.7272A>T (p.Pro2424=)
c.*7014A>T (n.*7014A>T)
n.5706A>T
c.7383A>T (p.Pro2461=)
c.7299A>T (p.Pro2433=)
c.7269A>T (p.Pro2423=)
c.7221A>T (p.Pro2407=)
c.7182A>T (p.Pro2394=)
c.7107A>T (p.Pro2369=)
n.8978A>T
c.7296A>T (p.Pro2432=)
c.7266A>T (p.Pro2422=)
c.7218A>T (p.Pro2406=)
c.7185A>T (p.Pro2395=)
c.7155A>T (p.Pro2385=)
c.7152A>T (p.Pro2384=)
c.7104A>T (p.Pro2368=)
c.7068A>T (p.Pro2356=)
c.7065A>T (p.Pro2355=)
c.7020A>T (p.Pro2340=)
n.7685A>T
Xg.77508444T>CCA517374057ATRXc.7386A>G (p.Pro2462=)
c.2484A>G (p.Pro828=)
c.7272A>G (p.Pro2424=)
c.*7014A>G (n.*7014A>G)
n.5706A>G
c.7383A>G (p.Pro2461=)
c.7299A>G (p.Pro2433=)
c.7269A>G (p.Pro2423=)
c.7221A>G (p.Pro2407=)
c.7182A>G (p.Pro2394=)
c.7107A>G (p.Pro2369=)
n.8978A>G
c.7296A>G (p.Pro2432=)
c.7266A>G (p.Pro2422=)
c.7218A>G (p.Pro2406=)
c.7185A>G (p.Pro2395=)
c.7155A>G (p.Pro2385=)
c.7152A>G (p.Pro2384=)
c.7104A>G (p.Pro2368=)
c.7068A>G (p.Pro2356=)
c.7065A>G (p.Pro2355=)
c.7020A>G (p.Pro2340=)
n.7685A>G
Xg.77508444T>GCA517374058ATRXc.7386A>C (p.Pro2462=)
c.2484A>C (p.Pro828=)
c.7272A>C (p.Pro2424=)
c.*7014A>C (n.*7014A>C)
n.5706A>C
c.7383A>C (p.Pro2461=)
c.7299A>C (p.Pro2433=)
c.7269A>C (p.Pro2423=)
c.7221A>C (p.Pro2407=)
c.7182A>C (p.Pro2394=)
c.7107A>C (p.Pro2369=)
n.8978A>C
c.7296A>C (p.Pro2432=)
c.7266A>C (p.Pro2422=)
c.7218A>C (p.Pro2406=)
c.7185A>C (p.Pro2395=)
c.7155A>C (p.Pro2385=)
c.7152A>C (p.Pro2384=)
c.7104A>C (p.Pro2368=)
c.7068A>C (p.Pro2356=)
c.7065A>C (p.Pro2355=)
c.7020A>C (p.Pro2340=)
n.7685A>C
Xg.77508445G>ACA413703980ATRXc.7385C>T (p.Pro2462Leu)
c.2483C>T (p.Pro828Leu)
c.7271C>T (p.Pro2424Leu)
c.*7013C>T (n.*7013C>T)
n.5705C>T
c.7382C>T (p.Pro2461Leu)
c.7298C>T (p.Pro2433Leu)
c.7268C>T (p.Pro2423Leu)
c.7220C>T (p.Pro2407Leu)
c.7181C>T (p.Pro2394Leu)
c.7106C>T (p.Pro2369Leu)
n.8977C>T
c.7295C>T (p.Pro2432Leu)
c.7265C>T (p.Pro2422Leu)
c.7217C>T (p.Pro2406Leu)
c.7184C>T (p.Pro2395Leu)
c.7154C>T (p.Pro2385Leu)
c.7151C>T (p.Pro2384Leu)
c.7103C>T (p.Pro2368Leu)
c.7067C>T (p.Pro2356Leu)
c.7064C>T (p.Pro2355Leu)
c.7019C>T (p.Pro2340Leu)
n.7684C>T
Xg.77508445G>CCA413703982ATRXc.7385C>G (p.Pro2462Arg)
c.2483C>G (p.Pro828Arg)
c.7271C>G (p.Pro2424Arg)
c.*7013C>G (n.*7013C>G)
n.5705C>G
c.7382C>G (p.Pro2461Arg)
c.7298C>G (p.Pro2433Arg)
c.7268C>G (p.Pro2423Arg)
c.7220C>G (p.Pro2407Arg)
c.7181C>G (p.Pro2394Arg)
c.7106C>G (p.Pro2369Arg)
n.8977C>G
c.7295C>G (p.Pro2432Arg)
c.7265C>G (p.Pro2422Arg)
c.7217C>G (p.Pro2406Arg)
c.7184C>G (p.Pro2395Arg)
c.7154C>G (p.Pro2385Arg)
c.7151C>G (p.Pro2384Arg)
c.7103C>G (p.Pro2368Arg)
c.7067C>G (p.Pro2356Arg)
c.7064C>G (p.Pro2355Arg)
c.7019C>G (p.Pro2340Arg)
n.7684C>G
Xg.77508445G>TCA413703984ATRXc.7385C>A (p.Pro2462Gln)
c.2483C>A (p.Pro828Gln)
c.7271C>A (p.Pro2424Gln)
c.*7013C>A (n.*7013C>A)
n.5705C>A
c.7382C>A (p.Pro2461Gln)
c.7298C>A (p.Pro2433Gln)
c.7268C>A (p.Pro2423Gln)
c.7220C>A (p.Pro2407Gln)
c.7181C>A (p.Pro2394Gln)
c.7106C>A (p.Pro2369Gln)
n.8977C>A
c.7295C>A (p.Pro2432Gln)
c.7265C>A (p.Pro2422Gln)
c.7217C>A (p.Pro2406Gln)
c.7184C>A (p.Pro2395Gln)
c.7154C>A (p.Pro2385Gln)
c.7151C>A (p.Pro2384Gln)
c.7103C>A (p.Pro2368Gln)
c.7067C>A (p.Pro2356Gln)
c.7064C>A (p.Pro2355Gln)
c.7019C>A (p.Pro2340Gln)
n.7684C>A
Xg.77508446delCA2738724188ATRXc.7385del (p.Pro2462GlnfsTer18)
c.2483del (p.Pro828GlnfsTer18)
c.7271del (p.Pro2424GlnfsTer18)
c.*7013del (n.*7013del)
n.5705del
c.7382del (p.Pro2461GlnfsTer18)
c.7298del (p.Pro2433GlnfsTer18)
c.7268del (p.Pro2423GlnfsTer18)
c.7220del (p.Pro2407GlnfsTer18)
c.7181del (p.Pro2394GlnfsTer18)
c.7106del (p.Pro2369GlnfsTer18)
n.8977del
c.7295del (p.Pro2432GlnfsTer18)
c.7265del (p.Pro2422GlnfsTer18)
c.7217del (p.Pro2406GlnfsTer18)
c.7184del (p.Pro2395GlnfsTer18)
c.7154del (p.Pro2385GlnfsTer18)
c.7151del (p.Pro2384GlnfsTer18)
c.7103del (p.Pro2368GlnfsTer18)
c.7067del (p.Pro2356GlnfsTer18)
c.7064del (p.Pro2355GlnfsTer18)
c.7019del (p.Pro2340GlnfsTer18)
n.7684del
 dbSNP
Xg.77508446G>ACA413703992ATRXc.7384C>T (p.Pro2462Ser)
c.2482C>T (p.Pro828Ser)
c.7270C>T (p.Pro2424Ser)
c.*7012C>T (n.*7012C>T)
n.5704C>T
c.7381C>T (p.Pro2461Ser)
c.7297C>T (p.Pro2433Ser)
c.7267C>T (p.Pro2423Ser)
c.7219C>T (p.Pro2407Ser)
c.7180C>T (p.Pro2394Ser)
c.7105C>T (p.Pro2369Ser)
n.8976C>T
c.7294C>T (p.Pro2432Ser)
c.7264C>T (p.Pro2422Ser)
c.7216C>T (p.Pro2406Ser)
c.7183C>T (p.Pro2395Ser)
c.7153C>T (p.Pro2385Ser)
c.7150C>T (p.Pro2384Ser)
c.7102C>T (p.Pro2368Ser)
c.7066C>T (p.Pro2356Ser)
c.7063C>T (p.Pro2355Ser)
c.7018C>T (p.Pro2340Ser)
n.7683C>T
 dbSNP gnomAD v4
Xg.77508446G>CCA413703986ATRXc.7384C>G (p.Pro2462Ala)
c.2482C>G (p.Pro828Ala)
c.7270C>G (p.Pro2424Ala)
c.*7012C>G (n.*7012C>G)
n.5704C>G
c.7381C>G (p.Pro2461Ala)
c.7297C>G (p.Pro2433Ala)
c.7267C>G (p.Pro2423Ala)
c.7219C>G (p.Pro2407Ala)
c.7180C>G (p.Pro2394Ala)
c.7105C>G (p.Pro2369Ala)
n.8976C>G
c.7294C>G (p.Pro2432Ala)
c.7264C>G (p.Pro2422Ala)
c.7216C>G (p.Pro2406Ala)
c.7183C>G (p.Pro2395Ala)
c.7153C>G (p.Pro2385Ala)
c.7150C>G (p.Pro2384Ala)
c.7102C>G (p.Pro2368Ala)
c.7066C>G (p.Pro2356Ala)
c.7063C>G (p.Pro2355Ala)
c.7018C>G (p.Pro2340Ala)
n.7683C>G
 dbSNP
Xg.77508446G=CA2438929044ATRXc.7384C= (p.Pro2462=)
c.2482C= (p.Pro828=)
c.7270C= (p.Pro2424=)
c.*7012C= (n.*7012C=)
n.5704C=
c.7381C= (p.Pro2461=)
c.7297C= (p.Pro2433=)
c.7267C= (p.Pro2423=)
c.7219C= (p.Pro2407=)
c.7180C= (p.Pro2394=)
c.7105C= (p.Pro2369=)
n.8976C=
c.7294C= (p.Pro2432=)
c.7264C= (p.Pro2422=)
c.7216C= (p.Pro2406=)
c.7183C= (p.Pro2395=)
c.7153C= (p.Pro2385=)
c.7150C= (p.Pro2384=)
c.7102C= (p.Pro2368=)
c.7066C= (p.Pro2356=)
c.7063C= (p.Pro2355=)
c.7018C= (p.Pro2340=)
n.7683C=
Xg.77508446G>TCA413703989ATRXc.7384C>A (p.Pro2462Thr)
c.2482C>A (p.Pro828Thr)
c.7270C>A (p.Pro2424Thr)
c.*7012C>A (n.*7012C>A)
n.5704C>A
c.7381C>A (p.Pro2461Thr)
c.7297C>A (p.Pro2433Thr)
c.7267C>A (p.Pro2423Thr)
c.7219C>A (p.Pro2407Thr)
c.7180C>A (p.Pro2394Thr)
c.7105C>A (p.Pro2369Thr)
n.8976C>A
c.7294C>A (p.Pro2432Thr)
c.7264C>A (p.Pro2422Thr)
c.7216C>A (p.Pro2406Thr)
c.7183C>A (p.Pro2395Thr)
c.7153C>A (p.Pro2385Thr)
c.7150C>A (p.Pro2384Thr)
c.7102C>A (p.Pro2368Thr)
c.7066C>A (p.Pro2356Thr)
c.7063C>A (p.Pro2355Thr)
c.7018C>A (p.Pro2340Thr)
n.7683C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508447C>ACA413703995ATRXc.7383G>T (p.Gln2461His)
c.2481G>T (p.Gln827His)
c.7269G>T (p.Gln2423His)
c.*7011G>T (n.*7011G>T)
n.5703G>T
c.7380G>T (p.Gln2460His)
c.7296G>T (p.Gln2432His)
c.7266G>T (p.Gln2422His)
c.7218G>T (p.Gln2406His)
c.7179G>T (p.Gln2393His)
c.7104G>T (p.Gln2368His)
n.8975G>T
c.7293G>T (p.Gln2431His)
c.7263G>T (p.Gln2421His)
c.7215G>T (p.Gln2405His)
c.7182G>T (p.Gln2394His)
c.7152G>T (p.Gln2384His)
c.7149G>T (p.Gln2383His)
c.7101G>T (p.Gln2367His)
c.7065G>T (p.Gln2355His)
c.7062G>T (p.Gln2354His)
c.7017G>T (p.Gln2339His)
n.7682G>T
Xg.77508447C>GCA413703998ATRXc.7383G>C (p.Gln2461His)
c.2481G>C (p.Gln827His)
c.7269G>C (p.Gln2423His)
c.*7011G>C (n.*7011G>C)
n.5703G>C
c.7380G>C (p.Gln2460His)
c.7296G>C (p.Gln2432His)
c.7266G>C (p.Gln2422His)
c.7218G>C (p.Gln2406His)
c.7179G>C (p.Gln2393His)
c.7104G>C (p.Gln2368His)
n.8975G>C
c.7293G>C (p.Gln2431His)
c.7263G>C (p.Gln2421His)
c.7215G>C (p.Gln2405His)
c.7182G>C (p.Gln2394His)
c.7152G>C (p.Gln2384His)
c.7149G>C (p.Gln2383His)
c.7101G>C (p.Gln2367His)
c.7065G>C (p.Gln2355His)
c.7062G>C (p.Gln2354His)
c.7017G>C (p.Gln2339His)
n.7682G>C
Xg.77508447C>TCA517374060ATRXc.7383G>A (p.Gln2461=)
c.2481G>A (p.Gln827=)
c.7269G>A (p.Gln2423=)
c.*7011G>A (n.*7011G>A)
n.5703G>A
c.7380G>A (p.Gln2460=)
c.7296G>A (p.Gln2432=)
c.7266G>A (p.Gln2422=)
c.7218G>A (p.Gln2406=)
c.7179G>A (p.Gln2393=)
c.7104G>A (p.Gln2368=)
n.8975G>A
c.7293G>A (p.Gln2431=)
c.7263G>A (p.Gln2421=)
c.7215G>A (p.Gln2405=)
c.7182G>A (p.Gln2394=)
c.7152G>A (p.Gln2384=)
c.7149G>A (p.Gln2383=)
c.7101G>A (p.Gln2367=)
c.7065G>A (p.Gln2355=)
c.7062G>A (p.Gln2354=)
c.7017G>A (p.Gln2339=)
n.7682G>A
Xg.77508448T>ACA413704002ATRXc.7382A>T (p.Gln2461Leu)
c.2480A>T (p.Gln827Leu)
c.7268A>T (p.Gln2423Leu)
c.*7010A>T (n.*7010A>T)
n.5702A>T
c.7379A>T (p.Gln2460Leu)
c.7295A>T (p.Gln2432Leu)
c.7265A>T (p.Gln2422Leu)
c.7217A>T (p.Gln2406Leu)
c.7178A>T (p.Gln2393Leu)
c.7103A>T (p.Gln2368Leu)
n.8974A>T
c.7292A>T (p.Gln2431Leu)
c.7262A>T (p.Gln2421Leu)
c.7214A>T (p.Gln2405Leu)
c.7181A>T (p.Gln2394Leu)
c.7151A>T (p.Gln2384Leu)
c.7148A>T (p.Gln2383Leu)
c.7100A>T (p.Gln2367Leu)
c.7064A>T (p.Gln2355Leu)
c.7061A>T (p.Gln2354Leu)
c.7016A>T (p.Gln2339Leu)
n.7681A>T
Xg.77508448T>CCA413704004ATRXc.7382A>G (p.Gln2461Arg)
c.2480A>G (p.Gln827Arg)
c.7268A>G (p.Gln2423Arg)
c.*7010A>G (n.*7010A>G)
n.5702A>G
c.7379A>G (p.Gln2460Arg)
c.7295A>G (p.Gln2432Arg)
c.7265A>G (p.Gln2422Arg)
c.7217A>G (p.Gln2406Arg)
c.7178A>G (p.Gln2393Arg)
c.7103A>G (p.Gln2368Arg)
n.8974A>G
c.7292A>G (p.Gln2431Arg)
c.7262A>G (p.Gln2421Arg)
c.7214A>G (p.Gln2405Arg)
c.7181A>G (p.Gln2394Arg)
c.7151A>G (p.Gln2384Arg)
c.7148A>G (p.Gln2383Arg)
c.7100A>G (p.Gln2367Arg)
c.7064A>G (p.Gln2355Arg)
c.7061A>G (p.Gln2354Arg)
c.7016A>G (p.Gln2339Arg)
n.7681A>G
Xg.77508448T>GCA413704006ATRXc.7382A>C (p.Gln2461Pro)
c.2480A>C (p.Gln827Pro)
c.7268A>C (p.Gln2423Pro)
c.*7010A>C (n.*7010A>C)
n.5702A>C
c.7379A>C (p.Gln2460Pro)
c.7295A>C (p.Gln2432Pro)
c.7265A>C (p.Gln2422Pro)
c.7217A>C (p.Gln2406Pro)
c.7178A>C (p.Gln2393Pro)
c.7103A>C (p.Gln2368Pro)
n.8974A>C
c.7292A>C (p.Gln2431Pro)
c.7262A>C (p.Gln2421Pro)
c.7214A>C (p.Gln2405Pro)
c.7181A>C (p.Gln2394Pro)
c.7151A>C (p.Gln2384Pro)
c.7148A>C (p.Gln2383Pro)
c.7100A>C (p.Gln2367Pro)
c.7064A>C (p.Gln2355Pro)
c.7061A>C (p.Gln2354Pro)
c.7016A>C (p.Gln2339Pro)
n.7681A>C
Xg.77508449G>ACA413704008ATRXc.7381C>T (p.Gln2461Ter)
c.2479C>T (p.Gln827Ter)
c.7267C>T (p.Gln2423Ter)
c.*7009C>T (n.*7009C>T)
n.5701C>T
c.7378C>T (p.Gln2460Ter)
c.7294C>T (p.Gln2432Ter)
c.7264C>T (p.Gln2422Ter)
c.7216C>T (p.Gln2406Ter)
c.7177C>T (p.Gln2393Ter)
c.7102C>T (p.Gln2368Ter)
n.8973C>T
c.7291C>T (p.Gln2431Ter)
c.7261C>T (p.Gln2421Ter)
c.7213C>T (p.Gln2405Ter)
c.7180C>T (p.Gln2394Ter)
c.7150C>T (p.Gln2384Ter)
c.7147C>T (p.Gln2383Ter)
c.7099C>T (p.Gln2367Ter)
c.7063C>T (p.Gln2355Ter)
c.7060C>T (p.Gln2354Ter)
c.7015C>T (p.Gln2339Ter)
n.7680C>T
 dbSNP
Xg.77508449G>CCA413704012ATRXc.7381C>G (p.Gln2461Glu)
c.2479C>G (p.Gln827Glu)
c.7267C>G (p.Gln2423Glu)
c.*7009C>G (n.*7009C>G)
n.5701C>G
c.7378C>G (p.Gln2460Glu)
c.7294C>G (p.Gln2432Glu)
c.7264C>G (p.Gln2422Glu)
c.7216C>G (p.Gln2406Glu)
c.7177C>G (p.Gln2393Glu)
c.7102C>G (p.Gln2368Glu)
n.8973C>G
c.7291C>G (p.Gln2431Glu)
c.7261C>G (p.Gln2421Glu)
c.7213C>G (p.Gln2405Glu)
c.7180C>G (p.Gln2394Glu)
c.7150C>G (p.Gln2384Glu)
c.7147C>G (p.Gln2383Glu)
c.7099C>G (p.Gln2367Glu)
c.7063C>G (p.Gln2355Glu)
c.7060C>G (p.Gln2354Glu)
c.7015C>G (p.Gln2339Glu)
n.7680C>G
 dbSNP
Xg.77508449G=CA2438929045ATRXc.7381C= (p.Gln2461=)
c.2479C= (p.Gln827=)
c.7267C= (p.Gln2423=)
c.*7009C= (n.*7009C=)
n.5701C=
c.7378C= (p.Gln2460=)
c.7294C= (p.Gln2432=)
c.7264C= (p.Gln2422=)
c.7216C= (p.Gln2406=)
c.7177C= (p.Gln2393=)
c.7102C= (p.Gln2368=)
n.8973C=
c.7291C= (p.Gln2431=)
c.7261C= (p.Gln2421=)
c.7213C= (p.Gln2405=)
c.7180C= (p.Gln2394=)
c.7150C= (p.Gln2384=)
c.7147C= (p.Gln2383=)
c.7099C= (p.Gln2367=)
c.7063C= (p.Gln2355=)
c.7060C= (p.Gln2354=)
c.7015C= (p.Gln2339=)
n.7680C=
Xg.77508449G>TCA413704010ATRXc.7381C>A (p.Gln2461Lys)
c.2479C>A (p.Gln827Lys)
c.7267C>A (p.Gln2423Lys)
c.*7009C>A (n.*7009C>A)
n.5701C>A
c.7378C>A (p.Gln2460Lys)
c.7294C>A (p.Gln2432Lys)
c.7264C>A (p.Gln2422Lys)
c.7216C>A (p.Gln2406Lys)
c.7177C>A (p.Gln2393Lys)
c.7102C>A (p.Gln2368Lys)
n.8973C>A
c.7291C>A (p.Gln2431Lys)
c.7261C>A (p.Gln2421Lys)
c.7213C>A (p.Gln2405Lys)
c.7180C>A (p.Gln2394Lys)
c.7150C>A (p.Gln2384Lys)
c.7147C>A (p.Gln2383Lys)
c.7099C>A (p.Gln2367Lys)
c.7063C>A (p.Gln2355Lys)
c.7060C>A (p.Gln2354Lys)
c.7015C>A (p.Gln2339Lys)
n.7680C>A
 dbSNP gnomAD v3 gnomAD v4
Xg.77508450A>CCA413704014ATRXc.7380T>G (p.Tyr2460Ter)
c.2478T>G (p.Tyr826Ter)
c.7266T>G (p.Tyr2422Ter)
c.*7008T>G (n.*7008T>G)
n.5700T>G
c.7377T>G (p.Tyr2459Ter)
c.7293T>G (p.Tyr2431Ter)
c.7263T>G (p.Tyr2421Ter)
c.7215T>G (p.Tyr2405Ter)
c.7176T>G (p.Tyr2392Ter)
c.7101T>G (p.Tyr2367Ter)
n.8972T>G
c.7290T>G (p.Tyr2430Ter)
c.7260T>G (p.Tyr2420Ter)
c.7212T>G (p.Tyr2404Ter)
c.7179T>G (p.Tyr2393Ter)
c.7149T>G (p.Tyr2383Ter)
c.7146T>G (p.Tyr2382Ter)
c.7098T>G (p.Tyr2366Ter)
c.7062T>G (p.Tyr2354Ter)
c.7059T>G (p.Tyr2353Ter)
c.7014T>G (p.Tyr2338Ter)
n.7679T>G
Xg.77508450A>GCA517374063ATRXc.7380T>C (p.Tyr2460=)
c.2478T>C (p.Tyr826=)
c.7266T>C (p.Tyr2422=)
c.*7008T>C (n.*7008T>C)
n.5700T>C
c.7377T>C (p.Tyr2459=)
c.7293T>C (p.Tyr2431=)
c.7263T>C (p.Tyr2421=)
c.7215T>C (p.Tyr2405=)
c.7176T>C (p.Tyr2392=)
c.7101T>C (p.Tyr2367=)
n.8972T>C
c.7290T>C (p.Tyr2430=)
c.7260T>C (p.Tyr2420=)
c.7212T>C (p.Tyr2404=)
c.7179T>C (p.Tyr2393=)
c.7149T>C (p.Tyr2383=)
c.7146T>C (p.Tyr2382=)
c.7098T>C (p.Tyr2366=)
c.7062T>C (p.Tyr2354=)
c.7059T>C (p.Tyr2353=)
c.7014T>C (p.Tyr2338=)
n.7679T>C
 dbSNP
Xg.77508450A>TCA413704016ATRXc.7380T>A (p.Tyr2460Ter)
c.2478T>A (p.Tyr826Ter)
c.7266T>A (p.Tyr2422Ter)
c.*7008T>A (n.*7008T>A)
n.5700T>A
c.7377T>A (p.Tyr2459Ter)
c.7293T>A (p.Tyr2431Ter)
c.7263T>A (p.Tyr2421Ter)
c.7215T>A (p.Tyr2405Ter)
c.7176T>A (p.Tyr2392Ter)
c.7101T>A (p.Tyr2367Ter)
n.8972T>A
c.7290T>A (p.Tyr2430Ter)
c.7260T>A (p.Tyr2420Ter)
c.7212T>A (p.Tyr2404Ter)
c.7179T>A (p.Tyr2393Ter)
c.7149T>A (p.Tyr2383Ter)
c.7146T>A (p.Tyr2382Ter)
c.7098T>A (p.Tyr2366Ter)
c.7062T>A (p.Tyr2354Ter)
c.7059T>A (p.Tyr2353Ter)
c.7014T>A (p.Tyr2338Ter)
n.7679T>A
Xg.77508451T>ACA413704018ATRXc.7379A>T (p.Tyr2460Phe)
c.2477A>T (p.Tyr826Phe)
c.7265A>T (p.Tyr2422Phe)
c.*7007A>T (n.*7007A>T)
n.5699A>T
c.7376A>T (p.Tyr2459Phe)
c.7292A>T (p.Tyr2431Phe)
c.7262A>T (p.Tyr2421Phe)
c.7214A>T (p.Tyr2405Phe)
c.7175A>T (p.Tyr2392Phe)
c.7100A>T (p.Tyr2367Phe)
n.8971A>T
c.7289A>T (p.Tyr2430Phe)
c.7259A>T (p.Tyr2420Phe)
c.7211A>T (p.Tyr2404Phe)
c.7178A>T (p.Tyr2393Phe)
c.7148A>T (p.Tyr2383Phe)
c.7145A>T (p.Tyr2382Phe)
c.7097A>T (p.Tyr2366Phe)
c.7061A>T (p.Tyr2354Phe)
c.7058A>T (p.Tyr2353Phe)
c.7013A>T (p.Tyr2338Phe)
n.7678A>T
Xg.77508451T>CCA10457391ATRXc.7379A>G (p.Tyr2460Cys)
c.2477A>G (p.Tyr826Cys)
c.7265A>G (p.Tyr2422Cys)
c.*7007A>G (n.*7007A>G)
n.5699A>G
c.7376A>G (p.Tyr2459Cys)
c.7292A>G (p.Tyr2431Cys)
c.7262A>G (p.Tyr2421Cys)
c.7214A>G (p.Tyr2405Cys)
c.7175A>G (p.Tyr2392Cys)
c.7100A>G (p.Tyr2367Cys)
n.8971A>G
c.7289A>G (p.Tyr2430Cys)
c.7259A>G (p.Tyr2420Cys)
c.7211A>G (p.Tyr2404Cys)
c.7178A>G (p.Tyr2393Cys)
c.7148A>G (p.Tyr2383Cys)
c.7145A>G (p.Tyr2382Cys)
c.7097A>G (p.Tyr2366Cys)
c.7061A>G (p.Tyr2354Cys)
c.7058A>G (p.Tyr2353Cys)
c.7013A>G (p.Tyr2338Cys)
n.7678A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77508451T>GCA413704022ATRXc.7379A>C (p.Tyr2460Ser)
c.2477A>C (p.Tyr826Ser)
c.7265A>C (p.Tyr2422Ser)
c.*7007A>C (n.*7007A>C)
n.5699A>C
c.7376A>C (p.Tyr2459Ser)
c.7292A>C (p.Tyr2431Ser)
c.7262A>C (p.Tyr2421Ser)
c.7214A>C (p.Tyr2405Ser)
c.7175A>C (p.Tyr2392Ser)
c.7100A>C (p.Tyr2367Ser)
n.8971A>C
c.7289A>C (p.Tyr2430Ser)
c.7259A>C (p.Tyr2420Ser)
c.7211A>C (p.Tyr2404Ser)
c.7178A>C (p.Tyr2393Ser)
c.7148A>C (p.Tyr2383Ser)
c.7145A>C (p.Tyr2382Ser)
c.7097A>C (p.Tyr2366Ser)
c.7061A>C (p.Tyr2354Ser)
c.7058A>C (p.Tyr2353Ser)
c.7013A>C (p.Tyr2338Ser)
n.7678A>C
 dbSNP
Xg.77508451T=CA2438929046ATRXc.7379A= (p.Tyr2460=)
c.2477A= (p.Tyr826=)
c.7265A= (p.Tyr2422=)
c.*7007A= (n.*7007A=)
n.5699A=
c.7376A= (p.Tyr2459=)
c.7292A= (p.Tyr2431=)
c.7262A= (p.Tyr2421=)
c.7214A= (p.Tyr2405=)
c.7175A= (p.Tyr2392=)
c.7100A= (p.Tyr2367=)
n.8971A=
c.7289A= (p.Tyr2430=)
c.7259A= (p.Tyr2420=)
c.7211A= (p.Tyr2404=)
c.7178A= (p.Tyr2393=)
c.7148A= (p.Tyr2383=)
c.7145A= (p.Tyr2382=)
c.7097A= (p.Tyr2366=)
c.7061A= (p.Tyr2354=)
c.7058A= (p.Tyr2353=)
c.7013A= (p.Tyr2338=)
n.7678A=
Xg.77508452A>CCA413704025ATRXc.7378T>G (p.Tyr2460Asp)
c.2476T>G (p.Tyr826Asp)
c.7264T>G (p.Tyr2422Asp)
c.*7006T>G (n.*7006T>G)
n.5698T>G
c.7375T>G (p.Tyr2459Asp)
c.7291T>G (p.Tyr2431Asp)
c.7261T>G (p.Tyr2421Asp)
c.7213T>G (p.Tyr2405Asp)
c.7174T>G (p.Tyr2392Asp)
c.7099T>G (p.Tyr2367Asp)
n.8970T>G
c.7288T>G (p.Tyr2430Asp)
c.7258T>G (p.Tyr2420Asp)
c.7210T>G (p.Tyr2404Asp)
c.7177T>G (p.Tyr2393Asp)
c.7147T>G (p.Tyr2383Asp)
c.7144T>G (p.Tyr2382Asp)
c.7096T>G (p.Tyr2366Asp)
c.7060T>G (p.Tyr2354Asp)
c.7057T>G (p.Tyr2353Asp)
c.7012T>G (p.Tyr2338Asp)
n.7677T>G
Xg.77508452A>GCA413704026ATRXc.7378T>C (p.Tyr2460His)
c.2476T>C (p.Tyr826His)
c.7264T>C (p.Tyr2422His)
c.*7006T>C (n.*7006T>C)
n.5698T>C
c.7375T>C (p.Tyr2459His)
c.7291T>C (p.Tyr2431His)
c.7261T>C (p.Tyr2421His)
c.7213T>C (p.Tyr2405His)
c.7174T>C (p.Tyr2392His)
c.7099T>C (p.Tyr2367His)
n.8970T>C
c.7288T>C (p.Tyr2430His)
c.7258T>C (p.Tyr2420His)
c.7210T>C (p.Tyr2404His)
c.7177T>C (p.Tyr2393His)
c.7147T>C (p.Tyr2383His)
c.7144T>C (p.Tyr2382His)
c.7096T>C (p.Tyr2366His)
c.7060T>C (p.Tyr2354His)
c.7057T>C (p.Tyr2353His)
c.7012T>C (p.Tyr2338His)
n.7677T>C
Xg.77508452A>TCA413704027ATRXc.7378T>A (p.Tyr2460Asn)
c.2476T>A (p.Tyr826Asn)
c.7264T>A (p.Tyr2422Asn)
c.*7006T>A (n.*7006T>A)
n.5698T>A
c.7375T>A (p.Tyr2459Asn)
c.7291T>A (p.Tyr2431Asn)
c.7261T>A (p.Tyr2421Asn)
c.7213T>A (p.Tyr2405Asn)
c.7174T>A (p.Tyr2392Asn)
c.7099T>A (p.Tyr2367Asn)
n.8970T>A
c.7288T>A (p.Tyr2430Asn)
c.7258T>A (p.Tyr2420Asn)
c.7210T>A (p.Tyr2404Asn)
c.7177T>A (p.Tyr2393Asn)
c.7147T>A (p.Tyr2383Asn)
c.7144T>A (p.Tyr2382Asn)
c.7096T>A (p.Tyr2366Asn)
c.7060T>A (p.Tyr2354Asn)
c.7057T>A (p.Tyr2353Asn)
c.7012T>A (p.Tyr2338Asn)
n.7677T>A
 dbSNP
Xg.77508452dupCA2695234701ATRXc.7378dup (p.Tyr2460LeufsTer?)
c.2476dup (p.Tyr826LeufsTer?)
c.7264dup (p.Tyr2422LeufsTer?)
c.*7006dup (n.*7006dup)
n.5698dup
c.7375dup (p.Tyr2459LeufsTer?)
c.7291dup (p.Tyr2431LeufsTer?)
c.7261dup (p.Tyr2421LeufsTer?)
c.7213dup (p.Tyr2405LeufsTer?)
c.7174dup (p.Tyr2392LeufsTer?)
c.7099dup (p.Tyr2367LeufsTer?)
n.8970dup
c.7288dup (p.Tyr2430LeufsTer?)
c.7258dup (p.Tyr2420LeufsTer?)
c.7210dup (p.Tyr2404LeufsTer?)
c.7177dup (p.Tyr2393LeufsTer?)
c.7147dup (p.Tyr2383LeufsTer?)
c.7144dup (p.Tyr2382LeufsTer?)
c.7096dup (p.Tyr2366LeufsTer?)
c.7060dup (p.Tyr2354LeufsTer?)
c.7057dup (p.Tyr2353LeufsTer?)
c.7012dup (p.Tyr2338LeufsTer?)
n.7677dup
Xg.77508453C>ACA413704029ATRXc.7377G>T (p.Met2459Ile)
c.2475G>T (p.Met825Ile)
c.7263G>T (p.Met2421Ile)
c.*7005G>T (n.*7005G>T)
n.5697G>T
c.7374G>T (p.Met2458Ile)
c.7290G>T (p.Met2430Ile)
c.7260G>T (p.Met2420Ile)
c.7212G>T (p.Met2404Ile)
c.7173G>T (p.Met2391Ile)
c.7098G>T (p.Met2366Ile)
n.8969G>T
c.7287G>T (p.Met2429Ile)
c.7257G>T (p.Met2419Ile)
c.7209G>T (p.Met2403Ile)
c.7176G>T (p.Met2392Ile)
c.7146G>T (p.Met2382Ile)
c.7143G>T (p.Met2381Ile)
c.7095G>T (p.Met2365Ile)
c.7059G>T (p.Met2353Ile)
c.7056G>T (p.Met2352Ile)
c.7011G>T (p.Met2337Ile)
n.7676G>T
Xg.77508453C>GCA413704031ATRXc.7377G>C (p.Met2459Ile)
c.2475G>C (p.Met825Ile)
c.7263G>C (p.Met2421Ile)
c.*7005G>C (n.*7005G>C)
n.5697G>C
c.7374G>C (p.Met2458Ile)
c.7290G>C (p.Met2430Ile)
c.7260G>C (p.Met2420Ile)
c.7212G>C (p.Met2404Ile)
c.7173G>C (p.Met2391Ile)
c.7098G>C (p.Met2366Ile)
n.8969G>C
c.7287G>C (p.Met2429Ile)
c.7257G>C (p.Met2419Ile)
c.7209G>C (p.Met2403Ile)
c.7176G>C (p.Met2392Ile)
c.7146G>C (p.Met2382Ile)
c.7143G>C (p.Met2381Ile)
c.7095G>C (p.Met2365Ile)
c.7059G>C (p.Met2353Ile)
c.7056G>C (p.Met2352Ile)
c.7011G>C (p.Met2337Ile)
n.7676G>C
Xg.77508453C>TCA413704034ATRXc.7377G>A (p.Met2459Ile)
c.2475G>A (p.Met825Ile)
c.7263G>A (p.Met2421Ile)
c.*7005G>A (n.*7005G>A)
n.5697G>A
c.7374G>A (p.Met2458Ile)
c.7290G>A (p.Met2430Ile)
c.7260G>A (p.Met2420Ile)
c.7212G>A (p.Met2404Ile)
c.7173G>A (p.Met2391Ile)
c.7098G>A (p.Met2366Ile)
n.8969G>A
c.7287G>A (p.Met2429Ile)
c.7257G>A (p.Met2419Ile)
c.7209G>A (p.Met2403Ile)
c.7176G>A (p.Met2392Ile)
c.7146G>A (p.Met2382Ile)
c.7143G>A (p.Met2381Ile)
c.7095G>A (p.Met2365Ile)
c.7059G>A (p.Met2353Ile)
c.7056G>A (p.Met2352Ile)
c.7011G>A (p.Met2337Ile)
n.7676G>A
 ClinVar dbSNP
Xg.77508454delCA2695234703ATRXc.7376del (p.Met2459SerfsTer21)
c.2474del (p.Met825SerfsTer21)
c.7262del (p.Met2421SerfsTer21)
c.*7004del (n.*7004del)
n.5696del
c.7373del (p.Met2458SerfsTer21)
c.7289del (p.Met2430SerfsTer21)
c.7259del (p.Met2420SerfsTer21)
c.7211del (p.Met2404SerfsTer21)
c.7172del (p.Met2391SerfsTer21)
c.7097del (p.Met2366SerfsTer21)
n.8968del
c.7286del (p.Met2429SerfsTer21)
c.7256del (p.Met2419SerfsTer21)
c.7208del (p.Met2403SerfsTer21)
c.7175del (p.Met2392SerfsTer21)
c.7145del (p.Met2382SerfsTer21)
c.7142del (p.Met2381SerfsTer21)
c.7094del (p.Met2365SerfsTer21)
c.7058del (p.Met2353SerfsTer21)
c.7055del (p.Met2352SerfsTer21)
c.7010del (p.Met2337SerfsTer21)
n.7675del
Xg.77508454A>CCA413704037ATRXc.7376T>G (p.Met2459Arg)
c.2474T>G (p.Met825Arg)
c.7262T>G (p.Met2421Arg)
c.*7004T>G (n.*7004T>G)
n.5696T>G
c.7373T>G (p.Met2458Arg)
c.7289T>G (p.Met2430Arg)
c.7259T>G (p.Met2420Arg)
c.7211T>G (p.Met2404Arg)
c.7172T>G (p.Met2391Arg)
c.7097T>G (p.Met2366Arg)
n.8968T>G
c.7286T>G (p.Met2429Arg)
c.7256T>G (p.Met2419Arg)
c.7208T>G (p.Met2403Arg)
c.7175T>G (p.Met2392Arg)
c.7145T>G (p.Met2382Arg)
c.7142T>G (p.Met2381Arg)
c.7094T>G (p.Met2365Arg)
c.7058T>G (p.Met2353Arg)
c.7055T>G (p.Met2352Arg)
c.7010T>G (p.Met2337Arg)
n.7675T>G
Xg.77508454A>GCA413704035ATRXc.7376T>C (p.Met2459Thr)
c.2474T>C (p.Met825Thr)
c.7262T>C (p.Met2421Thr)
c.*7004T>C (n.*7004T>C)
n.5696T>C
c.7373T>C (p.Met2458Thr)
c.7289T>C (p.Met2430Thr)
c.7259T>C (p.Met2420Thr)
c.7211T>C (p.Met2404Thr)
c.7172T>C (p.Met2391Thr)
c.7097T>C (p.Met2366Thr)
n.8968T>C
c.7286T>C (p.Met2429Thr)
c.7256T>C (p.Met2419Thr)
c.7208T>C (p.Met2403Thr)
c.7175T>C (p.Met2392Thr)
c.7145T>C (p.Met2382Thr)
c.7142T>C (p.Met2381Thr)
c.7094T>C (p.Met2365Thr)
c.7058T>C (p.Met2353Thr)
c.7055T>C (p.Met2352Thr)
c.7010T>C (p.Met2337Thr)
n.7675T>C
Xg.77508454A>TCA413704036ATRXc.7376T>A (p.Met2459Lys)
c.2474T>A (p.Met825Lys)
c.7262T>A (p.Met2421Lys)
c.*7004T>A (n.*7004T>A)
n.5696T>A
c.7373T>A (p.Met2458Lys)
c.7289T>A (p.Met2430Lys)
c.7259T>A (p.Met2420Lys)
c.7211T>A (p.Met2404Lys)
c.7172T>A (p.Met2391Lys)
c.7097T>A (p.Met2366Lys)
n.8968T>A
c.7286T>A (p.Met2429Lys)
c.7256T>A (p.Met2419Lys)
c.7208T>A (p.Met2403Lys)
c.7175T>A (p.Met2392Lys)
c.7145T>A (p.Met2382Lys)
c.7142T>A (p.Met2381Lys)
c.7094T>A (p.Met2365Lys)
c.7058T>A (p.Met2353Lys)
c.7055T>A (p.Met2352Lys)
c.7010T>A (p.Met2337Lys)
n.7675T>A

Number of alleles fetched