Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77574231T>CCA1134485818ATRXc.6326+19A>G (n.6326+19A>G)
c.1424+19A>G (n.1424+19A>G)
c.6212+19A>G (n.6212+19A>G)
c.*5954+19A>G (n.*5954+19A>G)
n.3396+19A>G
c.6323+19A>G (n.6323+19A>G)
c.6239+19A>G (n.6239+19A>G)
c.6209+19A>G (n.6209+19A>G)
c.6161+19A>G (n.6161+19A>G)
c.6122+19A>G (n.6122+19A>G)
c.6047+19A>G (n.6047+19A>G)
n.6668+19A>G
c.6236+19A>G (n.6236+19A>G)
c.6206+19A>G (n.6206+19A>G)
c.6158+19A>G (n.6158+19A>G)
c.6125+19A>G (n.6125+19A>G)
c.6095+19A>G (n.6095+19A>G)
c.6092+19A>G (n.6092+19A>G)
c.6044+19A>G (n.6044+19A>G)
c.6008+19A>G (n.6008+19A>G)
c.6005+19A>G (n.6005+19A>G)
c.5960+19A>G (n.5960+19A>G)
n.6625+19A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.77574231T=CA2438951386ATRXc.6326+19A= (n.6326+19A=)
c.1424+19A= (n.1424+19A=)
c.6212+19A= (n.6212+19A=)
c.*5954+19A= (n.*5954+19A=)
n.3396+19A=
c.6323+19A= (n.6323+19A=)
c.6239+19A= (n.6239+19A=)
c.6209+19A= (n.6209+19A=)
c.6161+19A= (n.6161+19A=)
c.6122+19A= (n.6122+19A=)
c.6047+19A= (n.6047+19A=)
n.6668+19A=
c.6236+19A= (n.6236+19A=)
c.6206+19A= (n.6206+19A=)
c.6158+19A= (n.6158+19A=)
c.6125+19A= (n.6125+19A=)
c.6095+19A= (n.6095+19A=)
c.6092+19A= (n.6092+19A=)
c.6044+19A= (n.6044+19A=)
c.6008+19A= (n.6008+19A=)
c.6005+19A= (n.6005+19A=)
c.5960+19A= (n.5960+19A=)
n.6625+19A=
Xg.77574233C>TCA2694140367ATRXc.6326+17G>A (n.6326+17G>A)
c.1424+17G>A (n.1424+17G>A)
c.6212+17G>A (n.6212+17G>A)
c.*5954+17G>A (n.*5954+17G>A)
n.3396+17G>A
c.6323+17G>A (n.6323+17G>A)
c.6239+17G>A (n.6239+17G>A)
c.6209+17G>A (n.6209+17G>A)
c.6161+17G>A (n.6161+17G>A)
c.6122+17G>A (n.6122+17G>A)
c.6047+17G>A (n.6047+17G>A)
n.6668+17G>A
c.6236+17G>A (n.6236+17G>A)
c.6206+17G>A (n.6206+17G>A)
c.6158+17G>A (n.6158+17G>A)
c.6125+17G>A (n.6125+17G>A)
c.6095+17G>A (n.6095+17G>A)
c.6092+17G>A (n.6092+17G>A)
c.6044+17G>A (n.6044+17G>A)
c.6008+17G>A (n.6008+17G>A)
c.6005+17G>A (n.6005+17G>A)
c.5960+17G>A (n.5960+17G>A)
n.6625+17G>A
 dbSNP gnomAD v4
Xg.77574234A>GCA2694140368ATRXc.6326+16T>C (n.6326+16T>C)
c.1424+16T>C (n.1424+16T>C)
c.6212+16T>C (n.6212+16T>C)
c.*5954+16T>C (n.*5954+16T>C)
n.3396+16T>C
c.6323+16T>C (n.6323+16T>C)
c.6239+16T>C (n.6239+16T>C)
c.6209+16T>C (n.6209+16T>C)
c.6161+16T>C (n.6161+16T>C)
c.6122+16T>C (n.6122+16T>C)
c.6047+16T>C (n.6047+16T>C)
n.6668+16T>C
c.6236+16T>C (n.6236+16T>C)
c.6206+16T>C (n.6206+16T>C)
c.6158+16T>C (n.6158+16T>C)
c.6125+16T>C (n.6125+16T>C)
c.6095+16T>C (n.6095+16T>C)
c.6092+16T>C (n.6092+16T>C)
c.6044+16T>C (n.6044+16T>C)
c.6008+16T>C (n.6008+16T>C)
c.6005+16T>C (n.6005+16T>C)
c.5960+16T>C (n.5960+16T>C)
n.6625+16T>C
 gnomAD v4
Xg.77574235G>TCA2694140369ATRXc.6326+15C>A (n.6326+15C>A)
c.1424+15C>A (n.1424+15C>A)
c.6212+15C>A (n.6212+15C>A)
c.*5954+15C>A (n.*5954+15C>A)
n.3396+15C>A
c.6323+15C>A (n.6323+15C>A)
c.6239+15C>A (n.6239+15C>A)
c.6209+15C>A (n.6209+15C>A)
c.6161+15C>A (n.6161+15C>A)
c.6122+15C>A (n.6122+15C>A)
c.6047+15C>A (n.6047+15C>A)
n.6668+15C>A
c.6236+15C>A (n.6236+15C>A)
c.6206+15C>A (n.6206+15C>A)
c.6158+15C>A (n.6158+15C>A)
c.6125+15C>A (n.6125+15C>A)
c.6095+15C>A (n.6095+15C>A)
c.6092+15C>A (n.6092+15C>A)
c.6044+15C>A (n.6044+15C>A)
c.6008+15C>A (n.6008+15C>A)
c.6005+15C>A (n.6005+15C>A)
c.5960+15C>A (n.5960+15C>A)
n.6625+15C>A
 gnomAD v4
Xg.77574236A>GCA2521524627ATRXc.6326+14T>C (n.6326+14T>C)
c.1424+14T>C (n.1424+14T>C)
c.6212+14T>C (n.6212+14T>C)
c.*5954+14T>C (n.*5954+14T>C)
n.3396+14T>C
c.6323+14T>C (n.6323+14T>C)
c.6239+14T>C (n.6239+14T>C)
c.6209+14T>C (n.6209+14T>C)
c.6161+14T>C (n.6161+14T>C)
c.6122+14T>C (n.6122+14T>C)
c.6047+14T>C (n.6047+14T>C)
n.6668+14T>C
c.6236+14T>C (n.6236+14T>C)
c.6206+14T>C (n.6206+14T>C)
c.6158+14T>C (n.6158+14T>C)
c.6125+14T>C (n.6125+14T>C)
c.6095+14T>C (n.6095+14T>C)
c.6092+14T>C (n.6092+14T>C)
c.6044+14T>C (n.6044+14T>C)
c.6008+14T>C (n.6008+14T>C)
c.6005+14T>C (n.6005+14T>C)
c.5960+14T>C (n.5960+14T>C)
n.6625+14T>C
Xg.77574239delCA2694140370ATRXc.6326+14del (n.6326+14del)
c.1424+14del (n.1424+14del)
c.6212+14del (n.6212+14del)
c.*5954+14del (n.*5954+14del)
n.3396+14del
c.6323+14del (n.6323+14del)
c.6239+14del (n.6239+14del)
c.6209+14del (n.6209+14del)
c.6161+14del (n.6161+14del)
c.6122+14del (n.6122+14del)
c.6047+14del (n.6047+14del)
n.6668+14del
c.6236+14del (n.6236+14del)
c.6206+14del (n.6206+14del)
c.6158+14del (n.6158+14del)
c.6125+14del (n.6125+14del)
c.6095+14del (n.6095+14del)
c.6092+14del (n.6092+14del)
c.6044+14del (n.6044+14del)
c.6008+14del (n.6008+14del)
c.6005+14del (n.6005+14del)
c.5960+14del (n.5960+14del)
n.6625+14del
 gnomAD v4
Xg.77574237A=CA2438951387ATRXc.6326+13T= (n.6326+13T=)
c.1424+13T= (n.1424+13T=)
c.6212+13T= (n.6212+13T=)
c.*5954+13T= (n.*5954+13T=)
n.3396+13T=
c.6323+13T= (n.6323+13T=)
c.6239+13T= (n.6239+13T=)
c.6209+13T= (n.6209+13T=)
c.6161+13T= (n.6161+13T=)
c.6122+13T= (n.6122+13T=)
c.6047+13T= (n.6047+13T=)
n.6668+13T=
c.6236+13T= (n.6236+13T=)
c.6206+13T= (n.6206+13T=)
c.6158+13T= (n.6158+13T=)
c.6125+13T= (n.6125+13T=)
c.6095+13T= (n.6095+13T=)
c.6092+13T= (n.6092+13T=)
c.6044+13T= (n.6044+13T=)
c.6008+13T= (n.6008+13T=)
c.6005+13T= (n.6005+13T=)
c.5960+13T= (n.5960+13T=)
n.6625+13T=
Xg.77574237A>CCA10457518ATRXc.6326+13T>G (n.6326+13T>G)
c.1424+13T>G (n.1424+13T>G)
c.6212+13T>G (n.6212+13T>G)
c.*5954+13T>G (n.*5954+13T>G)
n.3396+13T>G
c.6323+13T>G (n.6323+13T>G)
c.6239+13T>G (n.6239+13T>G)
c.6209+13T>G (n.6209+13T>G)
c.6161+13T>G (n.6161+13T>G)
c.6122+13T>G (n.6122+13T>G)
c.6047+13T>G (n.6047+13T>G)
n.6668+13T>G
c.6236+13T>G (n.6236+13T>G)
c.6206+13T>G (n.6206+13T>G)
c.6158+13T>G (n.6158+13T>G)
c.6125+13T>G (n.6125+13T>G)
c.6095+13T>G (n.6095+13T>G)
c.6092+13T>G (n.6092+13T>G)
c.6044+13T>G (n.6044+13T>G)
c.6008+13T>G (n.6008+13T>G)
c.6005+13T>G (n.6005+13T>G)
c.5960+13T>G (n.5960+13T>G)
n.6625+13T>G
 dbSNP ExAC gnomAD v2
Xg.77574238A=CA2438951388ATRXc.6326+12T= (n.6326+12T=)
c.1424+12T= (n.1424+12T=)
c.6212+12T= (n.6212+12T=)
c.*5954+12T= (n.*5954+12T=)
n.3396+12T=
c.6323+12T= (n.6323+12T=)
c.6239+12T= (n.6239+12T=)
c.6209+12T= (n.6209+12T=)
c.6161+12T= (n.6161+12T=)
c.6122+12T= (n.6122+12T=)
c.6047+12T= (n.6047+12T=)
n.6668+12T=
c.6236+12T= (n.6236+12T=)
c.6206+12T= (n.6206+12T=)
c.6158+12T= (n.6158+12T=)
c.6125+12T= (n.6125+12T=)
c.6095+12T= (n.6095+12T=)
c.6092+12T= (n.6092+12T=)
c.6044+12T= (n.6044+12T=)
c.6008+12T= (n.6008+12T=)
c.6005+12T= (n.6005+12T=)
c.5960+12T= (n.5960+12T=)
n.6625+12T=
Xg.77574238A>CCA878405005ATRXc.6326+12T>G (n.6326+12T>G)
c.1424+12T>G (n.1424+12T>G)
c.6212+12T>G (n.6212+12T>G)
c.*5954+12T>G (n.*5954+12T>G)
n.3396+12T>G
c.6323+12T>G (n.6323+12T>G)
c.6239+12T>G (n.6239+12T>G)
c.6209+12T>G (n.6209+12T>G)
c.6161+12T>G (n.6161+12T>G)
c.6122+12T>G (n.6122+12T>G)
c.6047+12T>G (n.6047+12T>G)
n.6668+12T>G
c.6236+12T>G (n.6236+12T>G)
c.6206+12T>G (n.6206+12T>G)
c.6158+12T>G (n.6158+12T>G)
c.6125+12T>G (n.6125+12T>G)
c.6095+12T>G (n.6095+12T>G)
c.6092+12T>G (n.6092+12T>G)
c.6044+12T>G (n.6044+12T>G)
c.6008+12T>G (n.6008+12T>G)
c.6005+12T>G (n.6005+12T>G)
c.5960+12T>G (n.5960+12T>G)
n.6625+12T>G
 ClinVar dbSNP
Xg.77574238A>GCA2694140371ATRXc.6326+12T>C (n.6326+12T>C)
c.1424+12T>C (n.1424+12T>C)
c.6212+12T>C (n.6212+12T>C)
c.*5954+12T>C (n.*5954+12T>C)
n.3396+12T>C
c.6323+12T>C (n.6323+12T>C)
c.6239+12T>C (n.6239+12T>C)
c.6209+12T>C (n.6209+12T>C)
c.6161+12T>C (n.6161+12T>C)
c.6122+12T>C (n.6122+12T>C)
c.6047+12T>C (n.6047+12T>C)
n.6668+12T>C
c.6236+12T>C (n.6236+12T>C)
c.6206+12T>C (n.6206+12T>C)
c.6158+12T>C (n.6158+12T>C)
c.6125+12T>C (n.6125+12T>C)
c.6095+12T>C (n.6095+12T>C)
c.6092+12T>C (n.6092+12T>C)
c.6044+12T>C (n.6044+12T>C)
c.6008+12T>C (n.6008+12T>C)
c.6005+12T>C (n.6005+12T>C)
c.5960+12T>C (n.5960+12T>C)
n.6625+12T>C
 gnomAD v4
Xg.77574239A>TCA2821944069ATRXc.6326+11T>A (n.6326+11T>A)
c.1424+11T>A (n.1424+11T>A)
c.6212+11T>A (n.6212+11T>A)
c.*5954+11T>A (n.*5954+11T>A)
n.3396+11T>A
c.6323+11T>A (n.6323+11T>A)
c.6239+11T>A (n.6239+11T>A)
c.6209+11T>A (n.6209+11T>A)
c.6161+11T>A (n.6161+11T>A)
c.6122+11T>A (n.6122+11T>A)
c.6047+11T>A (n.6047+11T>A)
n.6668+11T>A
c.6236+11T>A (n.6236+11T>A)
c.6206+11T>A (n.6206+11T>A)
c.6158+11T>A (n.6158+11T>A)
c.6125+11T>A (n.6125+11T>A)
c.6095+11T>A (n.6095+11T>A)
c.6092+11T>A (n.6092+11T>A)
c.6044+11T>A (n.6044+11T>A)
c.6008+11T>A (n.6008+11T>A)
c.6005+11T>A (n.6005+11T>A)
c.5960+11T>A (n.5960+11T>A)
n.6625+11T>A
Xg.77574240T>ACA2694140372ATRXc.6326+10A>T (n.6326+10A>T)
c.1424+10A>T (n.1424+10A>T)
c.6212+10A>T (n.6212+10A>T)
c.*5954+10A>T (n.*5954+10A>T)
n.3396+10A>T
c.6323+10A>T (n.6323+10A>T)
c.6239+10A>T (n.6239+10A>T)
c.6209+10A>T (n.6209+10A>T)
c.6161+10A>T (n.6161+10A>T)
c.6122+10A>T (n.6122+10A>T)
c.6047+10A>T (n.6047+10A>T)
n.6668+10A>T
c.6236+10A>T (n.6236+10A>T)
c.6206+10A>T (n.6206+10A>T)
c.6158+10A>T (n.6158+10A>T)
c.6125+10A>T (n.6125+10A>T)
c.6095+10A>T (n.6095+10A>T)
c.6092+10A>T (n.6092+10A>T)
c.6044+10A>T (n.6044+10A>T)
c.6008+10A>T (n.6008+10A>T)
c.6005+10A>T (n.6005+10A>T)
c.5960+10A>T (n.5960+10A>T)
n.6625+10A>T
 gnomAD v4
Xg.77574240T>GCA10457519ATRXc.6326+10A>C (n.6326+10A>C)
c.1424+10A>C (n.1424+10A>C)
c.6212+10A>C (n.6212+10A>C)
c.*5954+10A>C (n.*5954+10A>C)
n.3396+10A>C
c.6323+10A>C (n.6323+10A>C)
c.6239+10A>C (n.6239+10A>C)
c.6209+10A>C (n.6209+10A>C)
c.6161+10A>C (n.6161+10A>C)
c.6122+10A>C (n.6122+10A>C)
c.6047+10A>C (n.6047+10A>C)
n.6668+10A>C
c.6236+10A>C (n.6236+10A>C)
c.6206+10A>C (n.6206+10A>C)
c.6158+10A>C (n.6158+10A>C)
c.6125+10A>C (n.6125+10A>C)
c.6095+10A>C (n.6095+10A>C)
c.6092+10A>C (n.6092+10A>C)
c.6044+10A>C (n.6044+10A>C)
c.6008+10A>C (n.6008+10A>C)
c.6005+10A>C (n.6005+10A>C)
c.5960+10A>C (n.5960+10A>C)
n.6625+10A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77574240T=CA2438951389ATRXc.6326+10A= (n.6326+10A=)
c.1424+10A= (n.1424+10A=)
c.6212+10A= (n.6212+10A=)
c.*5954+10A= (n.*5954+10A=)
n.3396+10A=
c.6323+10A= (n.6323+10A=)
c.6239+10A= (n.6239+10A=)
c.6209+10A= (n.6209+10A=)
c.6161+10A= (n.6161+10A=)
c.6122+10A= (n.6122+10A=)
c.6047+10A= (n.6047+10A=)
n.6668+10A=
c.6236+10A= (n.6236+10A=)
c.6206+10A= (n.6206+10A=)
c.6158+10A= (n.6158+10A=)
c.6125+10A= (n.6125+10A=)
c.6095+10A= (n.6095+10A=)
c.6092+10A= (n.6092+10A=)
c.6044+10A= (n.6044+10A=)
c.6008+10A= (n.6008+10A=)
c.6005+10A= (n.6005+10A=)
c.5960+10A= (n.5960+10A=)
n.6625+10A=
Xg.77574244delCA2579648808ATRXc.6326+10del (n.6326+10del)
c.1424+10del (n.1424+10del)
c.6212+10del (n.6212+10del)
c.*5954+10del (n.*5954+10del)
n.3396+10del
c.6323+10del (n.6323+10del)
c.6239+10del (n.6239+10del)
c.6209+10del (n.6209+10del)
c.6161+10del (n.6161+10del)
c.6122+10del (n.6122+10del)
c.6047+10del (n.6047+10del)
n.6668+10del
c.6236+10del (n.6236+10del)
c.6206+10del (n.6206+10del)
c.6158+10del (n.6158+10del)
c.6125+10del (n.6125+10del)
c.6095+10del (n.6095+10del)
c.6092+10del (n.6092+10del)
c.6044+10del (n.6044+10del)
c.6008+10del (n.6008+10del)
c.6005+10del (n.6005+10del)
c.5960+10del (n.5960+10del)
n.6625+10del
Xg.77574241T>ACA2579648809ATRXc.6326+9A>T (n.6326+9A>T)
c.1424+9A>T (n.1424+9A>T)
c.6212+9A>T (n.6212+9A>T)
c.*5954+9A>T (n.*5954+9A>T)
n.3396+9A>T
c.6323+9A>T (n.6323+9A>T)
c.6239+9A>T (n.6239+9A>T)
c.6209+9A>T (n.6209+9A>T)
c.6161+9A>T (n.6161+9A>T)
c.6122+9A>T (n.6122+9A>T)
c.6047+9A>T (n.6047+9A>T)
n.6668+9A>T
c.6236+9A>T (n.6236+9A>T)
c.6206+9A>T (n.6206+9A>T)
c.6158+9A>T (n.6158+9A>T)
c.6125+9A>T (n.6125+9A>T)
c.6095+9A>T (n.6095+9A>T)
c.6092+9A>T (n.6092+9A>T)
c.6044+9A>T (n.6044+9A>T)
c.6008+9A>T (n.6008+9A>T)
c.6005+9A>T (n.6005+9A>T)
c.5960+9A>T (n.5960+9A>T)
n.6625+9A>T
Xg.77574241T>GCA2694140373ATRXc.6326+9A>C (n.6326+9A>C)
c.1424+9A>C (n.1424+9A>C)
c.6212+9A>C (n.6212+9A>C)
c.*5954+9A>C (n.*5954+9A>C)
n.3396+9A>C
c.6323+9A>C (n.6323+9A>C)
c.6239+9A>C (n.6239+9A>C)
c.6209+9A>C (n.6209+9A>C)
c.6161+9A>C (n.6161+9A>C)
c.6122+9A>C (n.6122+9A>C)
c.6047+9A>C (n.6047+9A>C)
n.6668+9A>C
c.6236+9A>C (n.6236+9A>C)
c.6206+9A>C (n.6206+9A>C)
c.6158+9A>C (n.6158+9A>C)
c.6125+9A>C (n.6125+9A>C)
c.6095+9A>C (n.6095+9A>C)
c.6092+9A>C (n.6092+9A>C)
c.6044+9A>C (n.6044+9A>C)
c.6008+9A>C (n.6008+9A>C)
c.6005+9A>C (n.6005+9A>C)
c.5960+9A>C (n.5960+9A>C)
n.6625+9A>C
 gnomAD v4
Xg.77574244T>CCA2694140374ATRXc.6326+6A>G (n.6326+6A>G)
c.1424+6A>G (n.1424+6A>G)
c.6212+6A>G (n.6212+6A>G)
c.*5954+6A>G (n.*5954+6A>G)
n.3396+6A>G
c.6323+6A>G (n.6323+6A>G)
c.6239+6A>G (n.6239+6A>G)
c.6209+6A>G (n.6209+6A>G)
c.6161+6A>G (n.6161+6A>G)
c.6122+6A>G (n.6122+6A>G)
c.6047+6A>G (n.6047+6A>G)
n.6668+6A>G
c.6236+6A>G (n.6236+6A>G)
c.6206+6A>G (n.6206+6A>G)
c.6158+6A>G (n.6158+6A>G)
c.6125+6A>G (n.6125+6A>G)
c.6095+6A>G (n.6095+6A>G)
c.6092+6A>G (n.6092+6A>G)
c.6044+6A>G (n.6044+6A>G)
c.6008+6A>G (n.6008+6A>G)
c.6005+6A>G (n.6005+6A>G)
c.5960+6A>G (n.5960+6A>G)
n.6625+6A>G
 gnomAD v4
Xg.77574245C>TCA2694140375ATRXc.6326+5G>A (n.6326+5G>A)
c.1424+5G>A (n.1424+5G>A)
c.6212+5G>A (n.6212+5G>A)
c.*5954+5G>A (n.*5954+5G>A)
n.3396+5G>A
c.6323+5G>A (n.6323+5G>A)
c.6239+5G>A (n.6239+5G>A)
c.6209+5G>A (n.6209+5G>A)
c.6161+5G>A (n.6161+5G>A)
c.6122+5G>A (n.6122+5G>A)
c.6047+5G>A (n.6047+5G>A)
n.6668+5G>A
c.6236+5G>A (n.6236+5G>A)
c.6206+5G>A (n.6206+5G>A)
c.6158+5G>A (n.6158+5G>A)
c.6125+5G>A (n.6125+5G>A)
c.6095+5G>A (n.6095+5G>A)
c.6092+5G>A (n.6092+5G>A)
c.6044+5G>A (n.6044+5G>A)
c.6008+5G>A (n.6008+5G>A)
c.6005+5G>A (n.6005+5G>A)
c.5960+5G>A (n.5960+5G>A)
n.6625+5G>A
 gnomAD v4
Xg.77574247T>CCA878405013ATRXc.6326+3A>G (n.6326+3A>G)
c.1424+3A>G (n.1424+3A>G)
c.6212+3A>G (n.6212+3A>G)
c.*5954+3A>G (n.*5954+3A>G)
n.3396+3A>G
c.6323+3A>G (n.6323+3A>G)
c.6239+3A>G (n.6239+3A>G)
c.6209+3A>G (n.6209+3A>G)
c.6161+3A>G (n.6161+3A>G)
c.6122+3A>G (n.6122+3A>G)
c.6047+3A>G (n.6047+3A>G)
n.6668+3A>G
c.6236+3A>G (n.6236+3A>G)
c.6206+3A>G (n.6206+3A>G)
c.6158+3A>G (n.6158+3A>G)
c.6125+3A>G (n.6125+3A>G)
c.6095+3A>G (n.6095+3A>G)
c.6092+3A>G (n.6092+3A>G)
c.6044+3A>G (n.6044+3A>G)
c.6008+3A>G (n.6008+3A>G)
c.6005+3A>G (n.6005+3A>G)
c.5960+3A>G (n.5960+3A>G)
n.6625+3A>G
 dbSNP
Xg.77574247T=CA2438951390ATRXc.6326+3A= (n.6326+3A=)
c.1424+3A= (n.1424+3A=)
c.6212+3A= (n.6212+3A=)
c.*5954+3A= (n.*5954+3A=)
n.3396+3A=
c.6323+3A= (n.6323+3A=)
c.6239+3A= (n.6239+3A=)
c.6209+3A= (n.6209+3A=)
c.6161+3A= (n.6161+3A=)
c.6122+3A= (n.6122+3A=)
c.6047+3A= (n.6047+3A=)
n.6668+3A=
c.6236+3A= (n.6236+3A=)
c.6206+3A= (n.6206+3A=)
c.6158+3A= (n.6158+3A=)
c.6125+3A= (n.6125+3A=)
c.6095+3A= (n.6095+3A=)
c.6092+3A= (n.6092+3A=)
c.6044+3A= (n.6044+3A=)
c.6008+3A= (n.6008+3A=)
c.6005+3A= (n.6005+3A=)
c.5960+3A= (n.5960+3A=)
n.6625+3A=
Xg.77574248A>CCA413700807ATRXc.6326+2T>G (n.6326+2T>G)
c.1424+2T>G (n.1424+2T>G)
c.6212+2T>G (n.6212+2T>G)
c.*5954+2T>G (n.*5954+2T>G)
n.3396+2T>G
c.6323+2T>G (n.6323+2T>G)
c.6239+2T>G (n.6239+2T>G)
c.6209+2T>G (n.6209+2T>G)
c.6161+2T>G (n.6161+2T>G)
c.6122+2T>G (n.6122+2T>G)
c.6047+2T>G (n.6047+2T>G)
n.6668+2T>G
c.6236+2T>G (n.6236+2T>G)
c.6206+2T>G (n.6206+2T>G)
c.6158+2T>G (n.6158+2T>G)
c.6125+2T>G (n.6125+2T>G)
c.6095+2T>G (n.6095+2T>G)
c.6092+2T>G (n.6092+2T>G)
c.6044+2T>G (n.6044+2T>G)
c.6008+2T>G (n.6008+2T>G)
c.6005+2T>G (n.6005+2T>G)
c.5960+2T>G (n.5960+2T>G)
n.6625+2T>G
Xg.77574248A>GCA413700809ATRXc.6326+2T>C (n.6326+2T>C)
c.1424+2T>C (n.1424+2T>C)
c.6212+2T>C (n.6212+2T>C)
c.*5954+2T>C (n.*5954+2T>C)
n.3396+2T>C
c.6323+2T>C (n.6323+2T>C)
c.6239+2T>C (n.6239+2T>C)
c.6209+2T>C (n.6209+2T>C)
c.6161+2T>C (n.6161+2T>C)
c.6122+2T>C (n.6122+2T>C)
c.6047+2T>C (n.6047+2T>C)
n.6668+2T>C
c.6236+2T>C (n.6236+2T>C)
c.6206+2T>C (n.6206+2T>C)
c.6158+2T>C (n.6158+2T>C)
c.6125+2T>C (n.6125+2T>C)
c.6095+2T>C (n.6095+2T>C)
c.6092+2T>C (n.6092+2T>C)
c.6044+2T>C (n.6044+2T>C)
c.6008+2T>C (n.6008+2T>C)
c.6005+2T>C (n.6005+2T>C)
c.5960+2T>C (n.5960+2T>C)
n.6625+2T>C
 gnomAD v4
Xg.77574248A>TCA413700811ATRXc.6326+2T>A (n.6326+2T>A)
c.1424+2T>A (n.1424+2T>A)
c.6212+2T>A (n.6212+2T>A)
c.*5954+2T>A (n.*5954+2T>A)
n.3396+2T>A
c.6323+2T>A (n.6323+2T>A)
c.6239+2T>A (n.6239+2T>A)
c.6209+2T>A (n.6209+2T>A)
c.6161+2T>A (n.6161+2T>A)
c.6122+2T>A (n.6122+2T>A)
c.6047+2T>A (n.6047+2T>A)
n.6668+2T>A
c.6236+2T>A (n.6236+2T>A)
c.6206+2T>A (n.6206+2T>A)
c.6158+2T>A (n.6158+2T>A)
c.6125+2T>A (n.6125+2T>A)
c.6095+2T>A (n.6095+2T>A)
c.6092+2T>A (n.6092+2T>A)
c.6044+2T>A (n.6044+2T>A)
c.6008+2T>A (n.6008+2T>A)
c.6005+2T>A (n.6005+2T>A)
c.5960+2T>A (n.5960+2T>A)
n.6625+2T>A
Xg.77574249C>ACA413700814ATRXc.6326+1G>T (n.6326+1G>T)
c.1424+1G>T (n.1424+1G>T)
c.6212+1G>T (n.6212+1G>T)
c.*5954+1G>T (n.*5954+1G>T)
n.3396+1G>T
c.6323+1G>T (n.6323+1G>T)
c.6239+1G>T (n.6239+1G>T)
c.6209+1G>T (n.6209+1G>T)
c.6161+1G>T (n.6161+1G>T)
c.6122+1G>T (n.6122+1G>T)
c.6047+1G>T (n.6047+1G>T)
n.6668+1G>T
c.6236+1G>T (n.6236+1G>T)
c.6206+1G>T (n.6206+1G>T)
c.6158+1G>T (n.6158+1G>T)
c.6125+1G>T (n.6125+1G>T)
c.6095+1G>T (n.6095+1G>T)
c.6092+1G>T (n.6092+1G>T)
c.6044+1G>T (n.6044+1G>T)
c.6008+1G>T (n.6008+1G>T)
c.6005+1G>T (n.6005+1G>T)
c.5960+1G>T (n.5960+1G>T)
n.6625+1G>T
Xg.77574249C>GCA413700817ATRXc.6326+1G>C (n.6326+1G>C)
c.1424+1G>C (n.1424+1G>C)
c.6212+1G>C (n.6212+1G>C)
c.*5954+1G>C (n.*5954+1G>C)
n.3396+1G>C
c.6323+1G>C (n.6323+1G>C)
c.6239+1G>C (n.6239+1G>C)
c.6209+1G>C (n.6209+1G>C)
c.6161+1G>C (n.6161+1G>C)
c.6122+1G>C (n.6122+1G>C)
c.6047+1G>C (n.6047+1G>C)
n.6668+1G>C
c.6236+1G>C (n.6236+1G>C)
c.6206+1G>C (n.6206+1G>C)
c.6158+1G>C (n.6158+1G>C)
c.6125+1G>C (n.6125+1G>C)
c.6095+1G>C (n.6095+1G>C)
c.6092+1G>C (n.6092+1G>C)
c.6044+1G>C (n.6044+1G>C)
c.6008+1G>C (n.6008+1G>C)
c.6005+1G>C (n.6005+1G>C)
c.5960+1G>C (n.5960+1G>C)
n.6625+1G>C
Xg.77574249C>TCA413700818ATRXc.6326+1G>A (n.6326+1G>A)
c.1424+1G>A (n.1424+1G>A)
c.6212+1G>A (n.6212+1G>A)
c.*5954+1G>A (n.*5954+1G>A)
n.3396+1G>A
c.6323+1G>A (n.6323+1G>A)
c.6239+1G>A (n.6239+1G>A)
c.6209+1G>A (n.6209+1G>A)
c.6161+1G>A (n.6161+1G>A)
c.6122+1G>A (n.6122+1G>A)
c.6047+1G>A (n.6047+1G>A)
n.6668+1G>A
c.6236+1G>A (n.6236+1G>A)
c.6206+1G>A (n.6206+1G>A)
c.6158+1G>A (n.6158+1G>A)
c.6125+1G>A (n.6125+1G>A)
c.6095+1G>A (n.6095+1G>A)
c.6092+1G>A (n.6092+1G>A)
c.6044+1G>A (n.6044+1G>A)
c.6008+1G>A (n.6008+1G>A)
c.6005+1G>A (n.6005+1G>A)
c.5960+1G>A (n.5960+1G>A)
n.6625+1G>A
 gnomAD v4
Xg.77574250C>ACA413700821ATRXc.6326G>T (p.Arg2109Ile)
c.1424G>T (p.Arg475Ile)
c.6212G>T (p.Arg2071Ile)
c.*5954G>T (n.*5954G>T)
n.3396G>T
c.6323G>T (p.Arg2108Ile)
c.6239G>T (p.Arg2080Ile)
c.6209G>T (p.Arg2070Ile)
c.6161G>T (p.Arg2054Ile)
c.6122G>T (p.Arg2041Ile)
c.6047G>T (p.Arg2016Ile)
n.6668G>T
c.6236G>T (p.Arg2079Ile)
c.6206G>T (p.Arg2069Ile)
c.6158G>T (p.Arg2053Ile)
c.6125G>T (p.Arg2042Ile)
c.6095G>T (p.Arg2032Ile)
c.6092G>T (p.Arg2031Ile)
c.6044G>T (p.Arg2015Ile)
c.6008G>T (p.Arg2003Ile)
c.6005G>T (p.Arg2002Ile)
c.5960G>T (p.Arg1987Ile)
n.6625G>T
 COSMIC COSMIC
Xg.77574250C>GCA413700826ATRXc.6326G>C (p.Arg2109Thr)
c.1424G>C (p.Arg475Thr)
c.6212G>C (p.Arg2071Thr)
c.*5954G>C (n.*5954G>C)
n.3396G>C
c.6323G>C (p.Arg2108Thr)
c.6239G>C (p.Arg2080Thr)
c.6209G>C (p.Arg2070Thr)
c.6161G>C (p.Arg2054Thr)
c.6122G>C (p.Arg2041Thr)
c.6047G>C (p.Arg2016Thr)
n.6668G>C
c.6236G>C (p.Arg2079Thr)
c.6206G>C (p.Arg2069Thr)
c.6158G>C (p.Arg2053Thr)
c.6125G>C (p.Arg2042Thr)
c.6095G>C (p.Arg2032Thr)
c.6092G>C (p.Arg2031Thr)
c.6044G>C (p.Arg2015Thr)
c.6008G>C (p.Arg2003Thr)
c.6005G>C (p.Arg2002Thr)
c.5960G>C (p.Arg1987Thr)
n.6625G>C
Xg.77574250C>TCA413700824ATRXc.6326G>A (p.Arg2109Lys)
c.1424G>A (p.Arg475Lys)
c.6212G>A (p.Arg2071Lys)
c.*5954G>A (n.*5954G>A)
n.3396G>A
c.6323G>A (p.Arg2108Lys)
c.6239G>A (p.Arg2080Lys)
c.6209G>A (p.Arg2070Lys)
c.6161G>A (p.Arg2054Lys)
c.6122G>A (p.Arg2041Lys)
c.6047G>A (p.Arg2016Lys)
n.6668G>A
c.6236G>A (p.Arg2079Lys)
c.6206G>A (p.Arg2069Lys)
c.6158G>A (p.Arg2053Lys)
c.6125G>A (p.Arg2042Lys)
c.6095G>A (p.Arg2032Lys)
c.6092G>A (p.Arg2031Lys)
c.6044G>A (p.Arg2015Lys)
c.6008G>A (p.Arg2003Lys)
c.6005G>A (p.Arg2002Lys)
c.5960G>A (p.Arg1987Lys)
n.6625G>A
 gnomAD v4
Xg.77574251T>ACA413700828ATRXc.6325A>T (p.Arg2109Ter)
c.1423A>T (p.Arg475Ter)
c.6211A>T (p.Arg2071Ter)
c.*5953A>T (n.*5953A>T)
n.3395A>T
c.6322A>T (p.Arg2108Ter)
c.6238A>T (p.Arg2080Ter)
c.6208A>T (p.Arg2070Ter)
c.6160A>T (p.Arg2054Ter)
c.6121A>T (p.Arg2041Ter)
c.6046A>T (p.Arg2016Ter)
n.6667A>T
c.6235A>T (p.Arg2079Ter)
c.6205A>T (p.Arg2069Ter)
c.6157A>T (p.Arg2053Ter)
c.6124A>T (p.Arg2042Ter)
c.6094A>T (p.Arg2032Ter)
c.6091A>T (p.Arg2031Ter)
c.6043A>T (p.Arg2015Ter)
c.6007A>T (p.Arg2003Ter)
c.6004A>T (p.Arg2002Ter)
c.5959A>T (p.Arg1987Ter)
n.6624A>T
Xg.77574251T>CCA413700829ATRXc.6325A>G (p.Arg2109Gly)
c.1423A>G (p.Arg475Gly)
c.6211A>G (p.Arg2071Gly)
c.*5953A>G (n.*5953A>G)
n.3395A>G
c.6322A>G (p.Arg2108Gly)
c.6238A>G (p.Arg2080Gly)
c.6208A>G (p.Arg2070Gly)
c.6160A>G (p.Arg2054Gly)
c.6121A>G (p.Arg2041Gly)
c.6046A>G (p.Arg2016Gly)
n.6667A>G
c.6235A>G (p.Arg2079Gly)
c.6205A>G (p.Arg2069Gly)
c.6157A>G (p.Arg2053Gly)
c.6124A>G (p.Arg2042Gly)
c.6094A>G (p.Arg2032Gly)
c.6091A>G (p.Arg2031Gly)
c.6043A>G (p.Arg2015Gly)
c.6007A>G (p.Arg2003Gly)
c.6004A>G (p.Arg2002Gly)
c.5959A>G (p.Arg1987Gly)
n.6624A>G
Xg.77574251T>GCA517374740ATRXc.6325A>C (p.Arg2109=)
c.1423A>C (p.Arg475=)
c.6211A>C (p.Arg2071=)
c.*5953A>C (n.*5953A>C)
n.3395A>C
c.6322A>C (p.Arg2108=)
c.6238A>C (p.Arg2080=)
c.6208A>C (p.Arg2070=)
c.6160A>C (p.Arg2054=)
c.6121A>C (p.Arg2041=)
c.6046A>C (p.Arg2016=)
n.6667A>C
c.6235A>C (p.Arg2079=)
c.6205A>C (p.Arg2069=)
c.6157A>C (p.Arg2053=)
c.6124A>C (p.Arg2042=)
c.6094A>C (p.Arg2032=)
c.6091A>C (p.Arg2031=)
c.6043A>C (p.Arg2015=)
c.6007A>C (p.Arg2003=)
c.6004A>C (p.Arg2002=)
c.5959A>C (p.Arg1987=)
n.6624A>C
Xg.77574252C>ACA517374742ATRXc.6324G>T (p.Val2108=)
c.1422G>T (p.Val474=)
c.6210G>T (p.Val2070=)
c.*5952G>T (n.*5952G>T)
n.3394G>T
c.6321G>T (p.Val2107=)
c.6237G>T (p.Val2079=)
c.6207G>T (p.Val2069=)
c.6159G>T (p.Val2053=)
c.6120G>T (p.Val2040=)
c.6045G>T (p.Val2015=)
n.6666G>T
c.6234G>T (p.Val2078=)
c.6204G>T (p.Val2068=)
c.6156G>T (p.Val2052=)
c.6123G>T (p.Val2041=)
c.6093G>T (p.Val2031=)
c.6090G>T (p.Val2030=)
c.6042G>T (p.Val2014=)
c.6006G>T (p.Val2002=)
c.6003G>T (p.Val2001=)
c.5958G>T (p.Val1986=)
n.6623G>T
Xg.77574252C>GCA517374743ATRXc.6324G>C (p.Val2108=)
c.1422G>C (p.Val474=)
c.6210G>C (p.Val2070=)
c.*5952G>C (n.*5952G>C)
n.3394G>C
c.6321G>C (p.Val2107=)
c.6237G>C (p.Val2079=)
c.6207G>C (p.Val2069=)
c.6159G>C (p.Val2053=)
c.6120G>C (p.Val2040=)
c.6045G>C (p.Val2015=)
n.6666G>C
c.6234G>C (p.Val2078=)
c.6204G>C (p.Val2068=)
c.6156G>C (p.Val2052=)
c.6123G>C (p.Val2041=)
c.6093G>C (p.Val2031=)
c.6090G>C (p.Val2030=)
c.6042G>C (p.Val2014=)
c.6006G>C (p.Val2002=)
c.6003G>C (p.Val2001=)
c.5958G>C (p.Val1986=)
n.6623G>C
Xg.77574252C>TCA517374744ATRXc.6324G>A (p.Val2108=)
c.1422G>A (p.Val474=)
c.6210G>A (p.Val2070=)
c.*5952G>A (n.*5952G>A)
n.3394G>A
c.6321G>A (p.Val2107=)
c.6237G>A (p.Val2079=)
c.6207G>A (p.Val2069=)
c.6159G>A (p.Val2053=)
c.6120G>A (p.Val2040=)
c.6045G>A (p.Val2015=)
n.6666G>A
c.6234G>A (p.Val2078=)
c.6204G>A (p.Val2068=)
c.6156G>A (p.Val2052=)
c.6123G>A (p.Val2041=)
c.6093G>A (p.Val2031=)
c.6090G>A (p.Val2030=)
c.6042G>A (p.Val2014=)
c.6006G>A (p.Val2002=)
c.6003G>A (p.Val2001=)
c.5958G>A (p.Val1986=)
n.6623G>A
 COSMIC COSMIC
Xg.77574254_77574255delCA2579648810ATRXc.6323_6324del (p.Val2108GlufsTer10)
c.1421_1422del (p.Val474GlufsTer10)
c.6209_6210del (p.Val2070GlufsTer10)
c.*5951_*5952del (n.*5951_*5952del)
n.3393_3394del
c.6320_6321del (p.Val2107GlufsTer10)
c.6236_6237del (p.Val2079GlufsTer10)
c.6206_6207del (p.Val2069GlufsTer10)
c.6158_6159del (p.Val2053GlufsTer10)
c.6119_6120del (p.Val2040GlufsTer10)
c.6044_6045del (p.Val2015GlufsTer10)
n.6665_6666del
c.6233_6234del (p.Val2078GlufsTer10)
c.6203_6204del (p.Val2068GlufsTer10)
c.6155_6156del (p.Val2052GlufsTer10)
c.6122_6123del (p.Val2041GlufsTer10)
c.6092_6093del (p.Val2031GlufsTer10)
c.6089_6090del (p.Val2030GlufsTer10)
c.6041_6042del (p.Val2014GlufsTer10)
c.6005_6006del (p.Val2002GlufsTer10)
c.6002_6003del (p.Val2001GlufsTer10)
c.5957_5958del (p.Val1986GlufsTer10)
n.6622_6623del
Xg.77574253A>CCA413700832ATRXc.6323T>G (p.Val2108Gly)
c.1421T>G (p.Val474Gly)
c.6209T>G (p.Val2070Gly)
c.*5951T>G (n.*5951T>G)
n.3393T>G
c.6320T>G (p.Val2107Gly)
c.6236T>G (p.Val2079Gly)
c.6206T>G (p.Val2069Gly)
c.6158T>G (p.Val2053Gly)
c.6119T>G (p.Val2040Gly)
c.6044T>G (p.Val2015Gly)
n.6665T>G
c.6233T>G (p.Val2078Gly)
c.6203T>G (p.Val2068Gly)
c.6155T>G (p.Val2052Gly)
c.6122T>G (p.Val2041Gly)
c.6092T>G (p.Val2031Gly)
c.6089T>G (p.Val2030Gly)
c.6041T>G (p.Val2014Gly)
c.6005T>G (p.Val2002Gly)
c.6002T>G (p.Val2001Gly)
c.5957T>G (p.Val1986Gly)
n.6622T>G
Xg.77574253A>GCA413700834ATRXc.6323T>C (p.Val2108Ala)
c.1421T>C (p.Val474Ala)
c.6209T>C (p.Val2070Ala)
c.*5951T>C (n.*5951T>C)
n.3393T>C
c.6320T>C (p.Val2107Ala)
c.6236T>C (p.Val2079Ala)
c.6206T>C (p.Val2069Ala)
c.6158T>C (p.Val2053Ala)
c.6119T>C (p.Val2040Ala)
c.6044T>C (p.Val2015Ala)
n.6665T>C
c.6233T>C (p.Val2078Ala)
c.6203T>C (p.Val2068Ala)
c.6155T>C (p.Val2052Ala)
c.6122T>C (p.Val2041Ala)
c.6092T>C (p.Val2031Ala)
c.6089T>C (p.Val2030Ala)
c.6041T>C (p.Val2014Ala)
c.6005T>C (p.Val2002Ala)
c.6002T>C (p.Val2001Ala)
c.5957T>C (p.Val1986Ala)
n.6622T>C
Xg.77574253A>TCA413700836ATRXc.6323T>A (p.Val2108Glu)
c.1421T>A (p.Val474Glu)
c.6209T>A (p.Val2070Glu)
c.*5951T>A (n.*5951T>A)
n.3393T>A
c.6320T>A (p.Val2107Glu)
c.6236T>A (p.Val2079Glu)
c.6206T>A (p.Val2069Glu)
c.6158T>A (p.Val2053Glu)
c.6119T>A (p.Val2040Glu)
c.6044T>A (p.Val2015Glu)
n.6665T>A
c.6233T>A (p.Val2078Glu)
c.6203T>A (p.Val2068Glu)
c.6155T>A (p.Val2052Glu)
c.6122T>A (p.Val2041Glu)
c.6092T>A (p.Val2031Glu)
c.6089T>A (p.Val2030Glu)
c.6041T>A (p.Val2014Glu)
c.6005T>A (p.Val2002Glu)
c.6002T>A (p.Val2001Glu)
c.5957T>A (p.Val1986Glu)
n.6622T>A
Xg.77574254C>ACA413700838ATRXc.6322G>T (p.Val2108Leu)
c.1420G>T (p.Val474Leu)
c.6208G>T (p.Val2070Leu)
c.*5950G>T (n.*5950G>T)
n.3392G>T
c.6319G>T (p.Val2107Leu)
c.6235G>T (p.Val2079Leu)
c.6205G>T (p.Val2069Leu)
c.6157G>T (p.Val2053Leu)
c.6118G>T (p.Val2040Leu)
c.6043G>T (p.Val2015Leu)
n.6664G>T
c.6232G>T (p.Val2078Leu)
c.6202G>T (p.Val2068Leu)
c.6154G>T (p.Val2052Leu)
c.6121G>T (p.Val2041Leu)
c.6091G>T (p.Val2031Leu)
c.6088G>T (p.Val2030Leu)
c.6040G>T (p.Val2014Leu)
c.6004G>T (p.Val2002Leu)
c.6001G>T (p.Val2001Leu)
c.5956G>T (p.Val1986Leu)
n.6621G>T
Xg.77574254C>GCA413700840ATRXc.6322G>C (p.Val2108Leu)
c.1420G>C (p.Val474Leu)
c.6208G>C (p.Val2070Leu)
c.*5950G>C (n.*5950G>C)
n.3392G>C
c.6319G>C (p.Val2107Leu)
c.6235G>C (p.Val2079Leu)
c.6205G>C (p.Val2069Leu)
c.6157G>C (p.Val2053Leu)
c.6118G>C (p.Val2040Leu)
c.6043G>C (p.Val2015Leu)
n.6664G>C
c.6232G>C (p.Val2078Leu)
c.6202G>C (p.Val2068Leu)
c.6154G>C (p.Val2052Leu)
c.6121G>C (p.Val2041Leu)
c.6091G>C (p.Val2031Leu)
c.6088G>C (p.Val2030Leu)
c.6040G>C (p.Val2014Leu)
c.6004G>C (p.Val2002Leu)
c.6001G>C (p.Val2001Leu)
c.5956G>C (p.Val1986Leu)
n.6621G>C
Xg.77574254C>TCA413700841ATRXc.6322G>A (p.Val2108Met)
c.1420G>A (p.Val474Met)
c.6208G>A (p.Val2070Met)
c.*5950G>A (n.*5950G>A)
n.3392G>A
c.6319G>A (p.Val2107Met)
c.6235G>A (p.Val2079Met)
c.6205G>A (p.Val2069Met)
c.6157G>A (p.Val2053Met)
c.6118G>A (p.Val2040Met)
c.6043G>A (p.Val2015Met)
n.6664G>A
c.6232G>A (p.Val2078Met)
c.6202G>A (p.Val2068Met)
c.6154G>A (p.Val2052Met)
c.6121G>A (p.Val2041Met)
c.6091G>A (p.Val2031Met)
c.6088G>A (p.Val2030Met)
c.6040G>A (p.Val2014Met)
c.6004G>A (p.Val2002Met)
c.6001G>A (p.Val2001Met)
c.5956G>A (p.Val1986Met)
n.6621G>A
 gnomAD v4
Xg.77574255A>CCA413700843ATRXc.6321T>G (p.Asn2107Lys)
c.1419T>G (p.Asn473Lys)
c.6207T>G (p.Asn2069Lys)
c.*5949T>G (n.*5949T>G)
n.3391T>G
c.6318T>G (p.Asn2106Lys)
c.6234T>G (p.Asn2078Lys)
c.6204T>G (p.Asn2068Lys)
c.6156T>G (p.Asn2052Lys)
c.6117T>G (p.Asn2039Lys)
c.6042T>G (p.Asn2014Lys)
n.6663T>G
c.6231T>G (p.Asn2077Lys)
c.6201T>G (p.Asn2067Lys)
c.6153T>G (p.Asn2051Lys)
c.6120T>G (p.Asn2040Lys)
c.6090T>G (p.Asn2030Lys)
c.6087T>G (p.Asn2029Lys)
c.6039T>G (p.Asn2013Lys)
c.6003T>G (p.Asn2001Lys)
c.6000T>G (p.Asn2000Lys)
c.5955T>G (p.Asn1985Lys)
n.6620T>G
Xg.77574255A>GCA517374746ATRXc.6321T>C (p.Asn2107=)
c.1419T>C (p.Asn473=)
c.6207T>C (p.Asn2069=)
c.*5949T>C (n.*5949T>C)
n.3391T>C
c.6318T>C (p.Asn2106=)
c.6234T>C (p.Asn2078=)
c.6204T>C (p.Asn2068=)
c.6156T>C (p.Asn2052=)
c.6117T>C (p.Asn2039=)
c.6042T>C (p.Asn2014=)
n.6663T>C
c.6231T>C (p.Asn2077=)
c.6201T>C (p.Asn2067=)
c.6153T>C (p.Asn2051=)
c.6120T>C (p.Asn2040=)
c.6090T>C (p.Asn2030=)
c.6087T>C (p.Asn2029=)
c.6039T>C (p.Asn2013=)
c.6003T>C (p.Asn2001=)
c.6000T>C (p.Asn2000=)
c.5955T>C (p.Asn1985=)
n.6620T>C
Xg.77574255A>TCA413700845ATRXc.6321T>A (p.Asn2107Lys)
c.1419T>A (p.Asn473Lys)
c.6207T>A (p.Asn2069Lys)
c.*5949T>A (n.*5949T>A)
n.3391T>A
c.6318T>A (p.Asn2106Lys)
c.6234T>A (p.Asn2078Lys)
c.6204T>A (p.Asn2068Lys)
c.6156T>A (p.Asn2052Lys)
c.6117T>A (p.Asn2039Lys)
c.6042T>A (p.Asn2014Lys)
n.6663T>A
c.6231T>A (p.Asn2077Lys)
c.6201T>A (p.Asn2067Lys)
c.6153T>A (p.Asn2051Lys)
c.6120T>A (p.Asn2040Lys)
c.6090T>A (p.Asn2030Lys)
c.6087T>A (p.Asn2029Lys)
c.6039T>A (p.Asn2013Lys)
c.6003T>A (p.Asn2001Lys)
c.6000T>A (p.Asn2000Lys)
c.5955T>A (p.Asn1985Lys)
n.6620T>A
Xg.77574256T>ACA413700848ATRXc.6320A>T (p.Asn2107Ile)
c.1418A>T (p.Asn473Ile)
c.6206A>T (p.Asn2069Ile)
c.*5948A>T (n.*5948A>T)
n.3390A>T
c.6317A>T (p.Asn2106Ile)
c.6233A>T (p.Asn2078Ile)
c.6203A>T (p.Asn2068Ile)
c.6155A>T (p.Asn2052Ile)
c.6116A>T (p.Asn2039Ile)
c.6041A>T (p.Asn2014Ile)
n.6662A>T
c.6230A>T (p.Asn2077Ile)
c.6200A>T (p.Asn2067Ile)
c.6152A>T (p.Asn2051Ile)
c.6119A>T (p.Asn2040Ile)
c.6089A>T (p.Asn2030Ile)
c.6086A>T (p.Asn2029Ile)
c.6038A>T (p.Asn2013Ile)
c.6002A>T (p.Asn2001Ile)
c.5999A>T (p.Asn2000Ile)
c.5954A>T (p.Asn1985Ile)
n.6619A>T
Xg.77574256T>CCA413700850ATRXc.6320A>G (p.Asn2107Ser)
c.1418A>G (p.Asn473Ser)
c.6206A>G (p.Asn2069Ser)
c.*5948A>G (n.*5948A>G)
n.3390A>G
c.6317A>G (p.Asn2106Ser)
c.6233A>G (p.Asn2078Ser)
c.6203A>G (p.Asn2068Ser)
c.6155A>G (p.Asn2052Ser)
c.6116A>G (p.Asn2039Ser)
c.6041A>G (p.Asn2014Ser)
n.6662A>G
c.6230A>G (p.Asn2077Ser)
c.6200A>G (p.Asn2067Ser)
c.6152A>G (p.Asn2051Ser)
c.6119A>G (p.Asn2040Ser)
c.6089A>G (p.Asn2030Ser)
c.6086A>G (p.Asn2029Ser)
c.6038A>G (p.Asn2013Ser)
c.6002A>G (p.Asn2001Ser)
c.5999A>G (p.Asn2000Ser)
c.5954A>G (p.Asn1985Ser)
n.6619A>G
Xg.77574256T>GCA413700853ATRXc.6320A>C (p.Asn2107Thr)
c.1418A>C (p.Asn473Thr)
c.6206A>C (p.Asn2069Thr)
c.*5948A>C (n.*5948A>C)
n.3390A>C
c.6317A>C (p.Asn2106Thr)
c.6233A>C (p.Asn2078Thr)
c.6203A>C (p.Asn2068Thr)
c.6155A>C (p.Asn2052Thr)
c.6116A>C (p.Asn2039Thr)
c.6041A>C (p.Asn2014Thr)
n.6662A>C
c.6230A>C (p.Asn2077Thr)
c.6200A>C (p.Asn2067Thr)
c.6152A>C (p.Asn2051Thr)
c.6119A>C (p.Asn2040Thr)
c.6089A>C (p.Asn2030Thr)
c.6086A>C (p.Asn2029Thr)
c.6038A>C (p.Asn2013Thr)
c.6002A>C (p.Asn2001Thr)
c.5999A>C (p.Asn2000Thr)
c.5954A>C (p.Asn1985Thr)
n.6619A>C
 dbSNP
Xg.77574256T=CA2438951391ATRXc.6320A= (p.Asn2107=)
c.1418A= (p.Asn473=)
c.6206A= (p.Asn2069=)
c.*5948A= (n.*5948A=)
n.3390A=
c.6317A= (p.Asn2106=)
c.6233A= (p.Asn2078=)
c.6203A= (p.Asn2068=)
c.6155A= (p.Asn2052=)
c.6116A= (p.Asn2039=)
c.6041A= (p.Asn2014=)
n.6662A=
c.6230A= (p.Asn2077=)
c.6200A= (p.Asn2067=)
c.6152A= (p.Asn2051=)
c.6119A= (p.Asn2040=)
c.6089A= (p.Asn2030=)
c.6086A= (p.Asn2029=)
c.6038A= (p.Asn2013=)
c.6002A= (p.Asn2001=)
c.5999A= (p.Asn2000=)
c.5954A= (p.Asn1985=)
n.6619A=
Xg.77574257T>ACA413700854ATRXc.6319A>T (p.Asn2107Tyr)
c.1417A>T (p.Asn473Tyr)
c.6205A>T (p.Asn2069Tyr)
c.*5947A>T (n.*5947A>T)
c.803A>T
n.3389A>T
c.6316A>T (p.Asn2106Tyr)
c.6232A>T (p.Asn2078Tyr)
c.6202A>T (p.Asn2068Tyr)
c.6154A>T (p.Asn2052Tyr)
c.6115A>T (p.Asn2039Tyr)
c.6040A>T (p.Asn2014Tyr)
n.6661A>T
c.6229A>T (p.Asn2077Tyr)
c.6199A>T (p.Asn2067Tyr)
c.6151A>T (p.Asn2051Tyr)
c.6118A>T (p.Asn2040Tyr)
c.6088A>T (p.Asn2030Tyr)
c.6085A>T (p.Asn2029Tyr)
c.6037A>T (p.Asn2013Tyr)
c.6001A>T (p.Asn2001Tyr)
c.5998A>T (p.Asn2000Tyr)
c.5953A>T (p.Asn1985Tyr)
n.6618A>T
Xg.77574257T>CCA413700858ATRXc.6319A>G (p.Asn2107Asp)
c.1417A>G (p.Asn473Asp)
c.6205A>G (p.Asn2069Asp)
c.*5947A>G (n.*5947A>G)
c.803A>G
n.3389A>G
c.6316A>G (p.Asn2106Asp)
c.6232A>G (p.Asn2078Asp)
c.6202A>G (p.Asn2068Asp)
c.6154A>G (p.Asn2052Asp)
c.6115A>G (p.Asn2039Asp)
c.6040A>G (p.Asn2014Asp)
n.6661A>G
c.6229A>G (p.Asn2077Asp)
c.6199A>G (p.Asn2067Asp)
c.6151A>G (p.Asn2051Asp)
c.6118A>G (p.Asn2040Asp)
c.6088A>G (p.Asn2030Asp)
c.6085A>G (p.Asn2029Asp)
c.6037A>G (p.Asn2013Asp)
c.6001A>G (p.Asn2001Asp)
c.5998A>G (p.Asn2000Asp)
c.5953A>G (p.Asn1985Asp)
n.6618A>G
Xg.77574257T>GCA413700857ATRXc.6319A>C (p.Asn2107His)
c.1417A>C (p.Asn473His)
c.6205A>C (p.Asn2069His)
c.*5947A>C (n.*5947A>C)
c.803A>C
n.3389A>C
c.6316A>C (p.Asn2106His)
c.6232A>C (p.Asn2078His)
c.6202A>C (p.Asn2068His)
c.6154A>C (p.Asn2052His)
c.6115A>C (p.Asn2039His)
c.6040A>C (p.Asn2014His)
n.6661A>C
c.6229A>C (p.Asn2077His)
c.6199A>C (p.Asn2067His)
c.6151A>C (p.Asn2051His)
c.6118A>C (p.Asn2040His)
c.6088A>C (p.Asn2030His)
c.6085A>C (p.Asn2029His)
c.6037A>C (p.Asn2013His)
c.6001A>C (p.Asn2001His)
c.5998A>C (p.Asn2000His)
c.5953A>C (p.Asn1985His)
n.6618A>C
Xg.77574258A>CCA517374748ATRXc.6318T>G (p.Thr2106=)
c.1416T>G (p.Thr472=)
c.6204T>G (p.Thr2068=)
c.*5946T>G (n.*5946T>G)
c.802T>G
n.3388T>G
c.6315T>G (p.Thr2105=)
c.6231T>G (p.Thr2077=)
c.6201T>G (p.Thr2067=)
c.6153T>G (p.Thr2051=)
c.6114T>G (p.Thr2038=)
c.6039T>G (p.Thr2013=)
n.6660T>G
c.6228T>G (p.Thr2076=)
c.6198T>G (p.Thr2066=)
c.6150T>G (p.Thr2050=)
c.6117T>G (p.Thr2039=)
c.6087T>G (p.Thr2029=)
c.6084T>G (p.Thr2028=)
c.6036T>G (p.Thr2012=)
c.6000T>G (p.Thr2000=)
c.5997T>G (p.Thr1999=)
c.5952T>G (p.Thr1984=)
n.6617T>G
Xg.77574258A>GCA517374749ATRXc.6318T>C (p.Thr2106=)
c.1416T>C (p.Thr472=)
c.6204T>C (p.Thr2068=)
c.*5946T>C (n.*5946T>C)
c.802T>C
n.3388T>C
c.6315T>C (p.Thr2105=)
c.6231T>C (p.Thr2077=)
c.6201T>C (p.Thr2067=)
c.6153T>C (p.Thr2051=)
c.6114T>C (p.Thr2038=)
c.6039T>C (p.Thr2013=)
n.6660T>C
c.6228T>C (p.Thr2076=)
c.6198T>C (p.Thr2066=)
c.6150T>C (p.Thr2050=)
c.6117T>C (p.Thr2039=)
c.6087T>C (p.Thr2029=)
c.6084T>C (p.Thr2028=)
c.6036T>C (p.Thr2012=)
c.6000T>C (p.Thr2000=)
c.5997T>C (p.Thr1999=)
c.5952T>C (p.Thr1984=)
n.6617T>C
Xg.77574258A>TCA517374750ATRXc.6318T>A (p.Thr2106=)
c.1416T>A (p.Thr472=)
c.6204T>A (p.Thr2068=)
c.*5946T>A (n.*5946T>A)
c.802T>A
n.3388T>A
c.6315T>A (p.Thr2105=)
c.6231T>A (p.Thr2077=)
c.6201T>A (p.Thr2067=)
c.6153T>A (p.Thr2051=)
c.6114T>A (p.Thr2038=)
c.6039T>A (p.Thr2013=)
n.6660T>A
c.6228T>A (p.Thr2076=)
c.6198T>A (p.Thr2066=)
c.6150T>A (p.Thr2050=)
c.6117T>A (p.Thr2039=)
c.6087T>A (p.Thr2029=)
c.6084T>A (p.Thr2028=)
c.6036T>A (p.Thr2012=)
c.6000T>A (p.Thr2000=)
c.5997T>A (p.Thr1999=)
c.5952T>A (p.Thr1984=)
n.6617T>A
Xg.77574259G>ACA413700861ATRXc.6317C>T (p.Thr2106Ile)
c.1415C>T (p.Thr472Ile)
c.6203C>T (p.Thr2068Ile)
c.*5945C>T (n.*5945C>T)
c.801C>T
n.3387C>T
c.6314C>T (p.Thr2105Ile)
c.6230C>T (p.Thr2077Ile)
c.6200C>T (p.Thr2067Ile)
c.6152C>T (p.Thr2051Ile)
c.6113C>T (p.Thr2038Ile)
c.6038C>T (p.Thr2013Ile)
n.6659C>T
c.6227C>T (p.Thr2076Ile)
c.6197C>T (p.Thr2066Ile)
c.6149C>T (p.Thr2050Ile)
c.6116C>T (p.Thr2039Ile)
c.6086C>T (p.Thr2029Ile)
c.6083C>T (p.Thr2028Ile)
c.6035C>T (p.Thr2012Ile)
c.5999C>T (p.Thr2000Ile)
c.5996C>T (p.Thr1999Ile)
c.5951C>T (p.Thr1984Ile)
n.6616C>T
Xg.77574259G>CCA413700862ATRXc.6317C>G (p.Thr2106Ser)
c.1415C>G (p.Thr472Ser)
c.6203C>G (p.Thr2068Ser)
c.*5945C>G (n.*5945C>G)
c.801C>G
n.3387C>G
c.6314C>G (p.Thr2105Ser)
c.6230C>G (p.Thr2077Ser)
c.6200C>G (p.Thr2067Ser)
c.6152C>G (p.Thr2051Ser)
c.6113C>G (p.Thr2038Ser)
c.6038C>G (p.Thr2013Ser)
n.6659C>G
c.6227C>G (p.Thr2076Ser)
c.6197C>G (p.Thr2066Ser)
c.6149C>G (p.Thr2050Ser)
c.6116C>G (p.Thr2039Ser)
c.6086C>G (p.Thr2029Ser)
c.6083C>G (p.Thr2028Ser)
c.6035C>G (p.Thr2012Ser)
c.5999C>G (p.Thr2000Ser)
c.5996C>G (p.Thr1999Ser)
c.5951C>G (p.Thr1984Ser)
n.6616C>G
 gnomAD v4
Xg.77574259G>TCA413700864ATRXc.6317C>A (p.Thr2106Asn)
c.1415C>A (p.Thr472Asn)
c.6203C>A (p.Thr2068Asn)
c.*5945C>A (n.*5945C>A)
c.801C>A
n.3387C>A
c.6314C>A (p.Thr2105Asn)
c.6230C>A (p.Thr2077Asn)
c.6200C>A (p.Thr2067Asn)
c.6152C>A (p.Thr2051Asn)
c.6113C>A (p.Thr2038Asn)
c.6038C>A (p.Thr2013Asn)
n.6659C>A
c.6227C>A (p.Thr2076Asn)
c.6197C>A (p.Thr2066Asn)
c.6149C>A (p.Thr2050Asn)
c.6116C>A (p.Thr2039Asn)
c.6086C>A (p.Thr2029Asn)
c.6083C>A (p.Thr2028Asn)
c.6035C>A (p.Thr2012Asn)
c.5999C>A (p.Thr2000Asn)
c.5996C>A (p.Thr1999Asn)
c.5951C>A (p.Thr1984Asn)
n.6616C>A
Xg.77574260T>ACA413700867ATRXc.6316A>T (p.Thr2106Ser)
c.1414A>T (p.Thr472Ser)
c.6202A>T (p.Thr2068Ser)
c.*5944A>T (n.*5944A>T)
c.800A>T
n.3386A>T
c.6313A>T (p.Thr2105Ser)
c.6229A>T (p.Thr2077Ser)
c.6199A>T (p.Thr2067Ser)
c.6151A>T (p.Thr2051Ser)
c.6112A>T (p.Thr2038Ser)
c.6037A>T (p.Thr2013Ser)
n.6658A>T
c.6226A>T (p.Thr2076Ser)
c.6196A>T (p.Thr2066Ser)
c.6148A>T (p.Thr2050Ser)
c.6115A>T (p.Thr2039Ser)
c.6085A>T (p.Thr2029Ser)
c.6082A>T (p.Thr2028Ser)
c.6034A>T (p.Thr2012Ser)
c.5998A>T (p.Thr2000Ser)
c.5995A>T (p.Thr1999Ser)
c.5950A>T (p.Thr1984Ser)
n.6615A>T
Xg.77574260T>CCA413700869ATRXc.6316A>G (p.Thr2106Ala)
c.1414A>G (p.Thr472Ala)
c.6202A>G (p.Thr2068Ala)
c.*5944A>G (n.*5944A>G)
c.800A>G
n.3386A>G
c.6313A>G (p.Thr2105Ala)
c.6229A>G (p.Thr2077Ala)
c.6199A>G (p.Thr2067Ala)
c.6151A>G (p.Thr2051Ala)
c.6112A>G (p.Thr2038Ala)
c.6037A>G (p.Thr2013Ala)
n.6658A>G
c.6226A>G (p.Thr2076Ala)
c.6196A>G (p.Thr2066Ala)
c.6148A>G (p.Thr2050Ala)
c.6115A>G (p.Thr2039Ala)
c.6085A>G (p.Thr2029Ala)
c.6082A>G (p.Thr2028Ala)
c.6034A>G (p.Thr2012Ala)
c.5998A>G (p.Thr2000Ala)
c.5995A>G (p.Thr1999Ala)
c.5950A>G (p.Thr1984Ala)
n.6615A>G
 gnomAD v4
Xg.77574260T>GCA413700871ATRXc.6316A>C (p.Thr2106Pro)
c.1414A>C (p.Thr472Pro)
c.6202A>C (p.Thr2068Pro)
c.*5944A>C (n.*5944A>C)
c.800A>C
n.3386A>C
c.6313A>C (p.Thr2105Pro)
c.6229A>C (p.Thr2077Pro)
c.6199A>C (p.Thr2067Pro)
c.6151A>C (p.Thr2051Pro)
c.6112A>C (p.Thr2038Pro)
c.6037A>C (p.Thr2013Pro)
n.6658A>C
c.6226A>C (p.Thr2076Pro)
c.6196A>C (p.Thr2066Pro)
c.6148A>C (p.Thr2050Pro)
c.6115A>C (p.Thr2039Pro)
c.6085A>C (p.Thr2029Pro)
c.6082A>C (p.Thr2028Pro)
c.6034A>C (p.Thr2012Pro)
c.5998A>C (p.Thr2000Pro)
c.5995A>C (p.Thr1999Pro)
c.5950A>C (p.Thr1984Pro)
n.6615A>C
Xg.77574262delCA2579648811ATRXc.6316del (p.Thr2106LeufsTer3)
c.1414del (p.Thr472LeufsTer3)
c.6202del (p.Thr2068LeufsTer3)
c.*5944del (n.*5944del)
c.800del
n.3386del
c.6313del (p.Thr2105LeufsTer3)
c.6229del (p.Thr2077LeufsTer3)
c.6199del (p.Thr2067LeufsTer3)
c.6151del (p.Thr2051LeufsTer3)
c.6112del (p.Thr2038LeufsTer3)
c.6037del (p.Thr2013LeufsTer3)
n.6658del
c.6226del (p.Thr2076LeufsTer3)
c.6196del (p.Thr2066LeufsTer3)
c.6148del (p.Thr2050LeufsTer3)
c.6115del (p.Thr2039LeufsTer3)
c.6085del (p.Thr2029LeufsTer3)
c.6082del (p.Thr2028LeufsTer3)
c.6034del (p.Thr2012LeufsTer3)
c.5998del (p.Thr2000LeufsTer3)
c.5995del (p.Thr1999LeufsTer3)
c.5950del (p.Thr1984LeufsTer3)
n.6615del
Xg.77574261T>ACA413700872ATRXc.6315A>T (p.Glu2105Asp)
c.1413A>T (p.Glu471Asp)
c.6201A>T (p.Glu2067Asp)
c.*5943A>T (n.*5943A>T)
c.799A>T
n.3385A>T
c.6312A>T (p.Glu2104Asp)
c.6228A>T (p.Glu2076Asp)
c.6198A>T (p.Glu2066Asp)
c.6150A>T (p.Glu2050Asp)
c.6111A>T (p.Glu2037Asp)
c.6036A>T (p.Glu2012Asp)
n.6657A>T
c.6225A>T (p.Glu2075Asp)
c.6195A>T (p.Glu2065Asp)
c.6147A>T (p.Glu2049Asp)
c.6114A>T (p.Glu2038Asp)
c.6084A>T (p.Glu2028Asp)
c.6081A>T (p.Glu2027Asp)
c.6033A>T (p.Glu2011Asp)
c.5997A>T (p.Glu1999Asp)
c.5994A>T (p.Glu1998Asp)
c.5949A>T (p.Glu1983Asp)
n.6614A>T
Xg.77574261T>CCA517374751ATRXc.6315A>G (p.Glu2105=)
c.1413A>G (p.Glu471=)
c.6201A>G (p.Glu2067=)
c.*5943A>G (n.*5943A>G)
c.799A>G
n.3385A>G
c.6312A>G (p.Glu2104=)
c.6228A>G (p.Glu2076=)
c.6198A>G (p.Glu2066=)
c.6150A>G (p.Glu2050=)
c.6111A>G (p.Glu2037=)
c.6036A>G (p.Glu2012=)
n.6657A>G
c.6225A>G (p.Glu2075=)
c.6195A>G (p.Glu2065=)
c.6147A>G (p.Glu2049=)
c.6114A>G (p.Glu2038=)
c.6084A>G (p.Glu2028=)
c.6081A>G (p.Glu2027=)
c.6033A>G (p.Glu2011=)
c.5997A>G (p.Glu1999=)
c.5994A>G (p.Glu1998=)
c.5949A>G (p.Glu1983=)
n.6614A>G
 gnomAD v4
Xg.77574261T>GCA413700874ATRXc.6315A>C (p.Glu2105Asp)
c.1413A>C (p.Glu471Asp)
c.6201A>C (p.Glu2067Asp)
c.*5943A>C (n.*5943A>C)
c.799A>C
n.3385A>C
c.6312A>C (p.Glu2104Asp)
c.6228A>C (p.Glu2076Asp)
c.6198A>C (p.Glu2066Asp)
c.6150A>C (p.Glu2050Asp)
c.6111A>C (p.Glu2037Asp)
c.6036A>C (p.Glu2012Asp)
n.6657A>C
c.6225A>C (p.Glu2075Asp)
c.6195A>C (p.Glu2065Asp)
c.6147A>C (p.Glu2049Asp)
c.6114A>C (p.Glu2038Asp)
c.6084A>C (p.Glu2028Asp)
c.6081A>C (p.Glu2027Asp)
c.6033A>C (p.Glu2011Asp)
c.5997A>C (p.Glu1999Asp)
c.5994A>C (p.Glu1998Asp)
c.5949A>C (p.Glu1983Asp)
n.6614A>C
Xg.77574262T>ACA413700875ATRXc.6314A>T (p.Glu2105Val)
c.1412A>T (p.Glu471Val)
c.6200A>T (p.Glu2067Val)
c.*5942A>T (n.*5942A>T)
c.798A>T
n.3384A>T
c.6311A>T (p.Glu2104Val)
c.6227A>T (p.Glu2076Val)
c.6197A>T (p.Glu2066Val)
c.6149A>T (p.Glu2050Val)
c.6110A>T (p.Glu2037Val)
c.6035A>T (p.Glu2012Val)
n.6656A>T
c.6224A>T (p.Glu2075Val)
c.6194A>T (p.Glu2065Val)
c.6146A>T (p.Glu2049Val)
c.6113A>T (p.Glu2038Val)
c.6083A>T (p.Glu2028Val)
c.6080A>T (p.Glu2027Val)
c.6032A>T (p.Glu2011Val)
c.5996A>T (p.Glu1999Val)
c.5993A>T (p.Glu1998Val)
c.5948A>T (p.Glu1983Val)
n.6613A>T
Xg.77574262T>CCA413700876ATRXc.6314A>G (p.Glu2105Gly)
c.1412A>G (p.Glu471Gly)
c.6200A>G (p.Glu2067Gly)
c.*5942A>G (n.*5942A>G)
c.798A>G
n.3384A>G
c.6311A>G (p.Glu2104Gly)
c.6227A>G (p.Glu2076Gly)
c.6197A>G (p.Glu2066Gly)
c.6149A>G (p.Glu2050Gly)
c.6110A>G (p.Glu2037Gly)
c.6035A>G (p.Glu2012Gly)
n.6656A>G
c.6224A>G (p.Glu2075Gly)
c.6194A>G (p.Glu2065Gly)
c.6146A>G (p.Glu2049Gly)
c.6113A>G (p.Glu2038Gly)
c.6083A>G (p.Glu2028Gly)
c.6080A>G (p.Glu2027Gly)
c.6032A>G (p.Glu2011Gly)
c.5996A>G (p.Glu1999Gly)
c.5993A>G (p.Glu1998Gly)
c.5948A>G (p.Glu1983Gly)
n.6613A>G
Xg.77574262T>GCA413700878ATRXc.6314A>C (p.Glu2105Ala)
c.1412A>C (p.Glu471Ala)
c.6200A>C (p.Glu2067Ala)
c.*5942A>C (n.*5942A>C)
c.798A>C
n.3384A>C
c.6311A>C (p.Glu2104Ala)
c.6227A>C (p.Glu2076Ala)
c.6197A>C (p.Glu2066Ala)
c.6149A>C (p.Glu2050Ala)
c.6110A>C (p.Glu2037Ala)
c.6035A>C (p.Glu2012Ala)
n.6656A>C
c.6224A>C (p.Glu2075Ala)
c.6194A>C (p.Glu2065Ala)
c.6146A>C (p.Glu2049Ala)
c.6113A>C (p.Glu2038Ala)
c.6083A>C (p.Glu2028Ala)
c.6080A>C (p.Glu2027Ala)
c.6032A>C (p.Glu2011Ala)
c.5996A>C (p.Glu1999Ala)
c.5993A>C (p.Glu1998Ala)
c.5948A>C (p.Glu1983Ala)
n.6613A>C
Xg.77574263C>ACA413700882ATRXc.6313G>T (p.Glu2105Ter)
c.1411G>T (p.Glu471Ter)
c.6199G>T (p.Glu2067Ter)
c.*5941G>T (n.*5941G>T)
c.797G>T
n.3383G>T
c.6310G>T (p.Glu2104Ter)
c.6226G>T (p.Glu2076Ter)
c.6196G>T (p.Glu2066Ter)
c.6148G>T (p.Glu2050Ter)
c.6109G>T (p.Glu2037Ter)
c.6034G>T (p.Glu2012Ter)
n.6655G>T
c.6223G>T (p.Glu2075Ter)
c.6193G>T (p.Glu2065Ter)
c.6145G>T (p.Glu2049Ter)
c.6112G>T (p.Glu2038Ter)
c.6082G>T (p.Glu2028Ter)
c.6079G>T (p.Glu2027Ter)
c.6031G>T (p.Glu2011Ter)
c.5995G>T (p.Glu1999Ter)
c.5992G>T (p.Glu1998Ter)
c.5947G>T (p.Glu1983Ter)
n.6612G>T
Xg.77574263C>GCA413700885ATRXc.6313G>C (p.Glu2105Gln)
c.1411G>C (p.Glu471Gln)
c.6199G>C (p.Glu2067Gln)
c.*5941G>C (n.*5941G>C)
c.797G>C
n.3383G>C
c.6310G>C (p.Glu2104Gln)
c.6226G>C (p.Glu2076Gln)
c.6196G>C (p.Glu2066Gln)
c.6148G>C (p.Glu2050Gln)
c.6109G>C (p.Glu2037Gln)
c.6034G>C (p.Glu2012Gln)
n.6655G>C
c.6223G>C (p.Glu2075Gln)
c.6193G>C (p.Glu2065Gln)
c.6145G>C (p.Glu2049Gln)
c.6112G>C (p.Glu2038Gln)
c.6082G>C (p.Glu2028Gln)
c.6079G>C (p.Glu2027Gln)
c.6031G>C (p.Glu2011Gln)
c.5995G>C (p.Glu1999Gln)
c.5992G>C (p.Glu1998Gln)
c.5947G>C (p.Glu1983Gln)
n.6612G>C
Xg.77574263C>TCA413700880ATRXc.6313G>A (p.Glu2105Lys)
c.1411G>A (p.Glu471Lys)
c.6199G>A (p.Glu2067Lys)
c.*5941G>A (n.*5941G>A)
c.797G>A
n.3383G>A
c.6310G>A (p.Glu2104Lys)
c.6226G>A (p.Glu2076Lys)
c.6196G>A (p.Glu2066Lys)
c.6148G>A (p.Glu2050Lys)
c.6109G>A (p.Glu2037Lys)
c.6034G>A (p.Glu2012Lys)
n.6655G>A
c.6223G>A (p.Glu2075Lys)
c.6193G>A (p.Glu2065Lys)
c.6145G>A (p.Glu2049Lys)
c.6112G>A (p.Glu2038Lys)
c.6082G>A (p.Glu2028Lys)
c.6079G>A (p.Glu2027Lys)
c.6031G>A (p.Glu2011Lys)
c.5995G>A (p.Glu1999Lys)
c.5992G>A (p.Glu1998Lys)
c.5947G>A (p.Glu1983Lys)
n.6612G>A
Xg.77574264A=CA2438951392ATRXc.6312T= (p.Asp2104=)
c.1410T= (p.Asp470=)
c.6198T= (p.Asp2066=)
c.*5940T= (n.*5940T=)
c.796T=
n.3382T=
c.6309T= (p.Asp2103=)
c.6225T= (p.Asp2075=)
c.6195T= (p.Asp2065=)
c.6147T= (p.Asp2049=)
c.6108T= (p.Asp2036=)
c.6033T= (p.Asp2011=)
n.6654T=
c.6222T= (p.Asp2074=)
c.6192T= (p.Asp2064=)
c.6144T= (p.Asp2048=)
c.6111T= (p.Asp2037=)
c.6081T= (p.Asp2027=)
c.6078T= (p.Asp2026=)
c.6030T= (p.Asp2010=)
c.5994T= (p.Asp1998=)
c.5991T= (p.Asp1997=)
c.5946T= (p.Asp1982=)
n.6611T=
Xg.77574264A>CCA413700888ATRXc.6312T>G (p.Asp2104Glu)
c.1410T>G (p.Asp470Glu)
c.6198T>G (p.Asp2066Glu)
c.*5940T>G (n.*5940T>G)
c.796T>G
n.3382T>G
c.6309T>G (p.Asp2103Glu)
c.6225T>G (p.Asp2075Glu)
c.6195T>G (p.Asp2065Glu)
c.6147T>G (p.Asp2049Glu)
c.6108T>G (p.Asp2036Glu)
c.6033T>G (p.Asp2011Glu)
n.6654T>G
c.6222T>G (p.Asp2074Glu)
c.6192T>G (p.Asp2064Glu)
c.6144T>G (p.Asp2048Glu)
c.6111T>G (p.Asp2037Glu)
c.6081T>G (p.Asp2027Glu)
c.6078T>G (p.Asp2026Glu)
c.6030T>G (p.Asp2010Glu)
c.5994T>G (p.Asp1998Glu)
c.5991T>G (p.Asp1997Glu)
c.5946T>G (p.Asp1982Glu)
n.6611T>G
Xg.77574264A>GCA517374755ATRXc.6312T>C (p.Asp2104=)
c.1410T>C (p.Asp470=)
c.6198T>C (p.Asp2066=)
c.*5940T>C (n.*5940T>C)
c.796T>C
n.3382T>C
c.6309T>C (p.Asp2103=)
c.6225T>C (p.Asp2075=)
c.6195T>C (p.Asp2065=)
c.6147T>C (p.Asp2049=)
c.6108T>C (p.Asp2036=)
c.6033T>C (p.Asp2011=)
n.6654T>C
c.6222T>C (p.Asp2074=)
c.6192T>C (p.Asp2064=)
c.6144T>C (p.Asp2048=)
c.6111T>C (p.Asp2037=)
c.6081T>C (p.Asp2027=)
c.6078T>C (p.Asp2026=)
c.6030T>C (p.Asp2010=)
c.5994T>C (p.Asp1998=)
c.5991T>C (p.Asp1997=)
c.5946T>C (p.Asp1982=)
n.6611T>C
 dbSNP
Xg.77574264A>TCA413700886ATRXc.6312T>A (p.Asp2104Glu)
c.1410T>A (p.Asp470Glu)
c.6198T>A (p.Asp2066Glu)
c.*5940T>A (n.*5940T>A)
c.796T>A
n.3382T>A
c.6309T>A (p.Asp2103Glu)
c.6225T>A (p.Asp2075Glu)
c.6195T>A (p.Asp2065Glu)
c.6147T>A (p.Asp2049Glu)
c.6108T>A (p.Asp2036Glu)
c.6033T>A (p.Asp2011Glu)
n.6654T>A
c.6222T>A (p.Asp2074Glu)
c.6192T>A (p.Asp2064Glu)
c.6144T>A (p.Asp2048Glu)
c.6111T>A (p.Asp2037Glu)
c.6081T>A (p.Asp2027Glu)
c.6078T>A (p.Asp2026Glu)
c.6030T>A (p.Asp2010Glu)
c.5994T>A (p.Asp1998Glu)
c.5991T>A (p.Asp1997Glu)
c.5946T>A (p.Asp1982Glu)
n.6611T>A
Xg.77574265T>ACA413700892ATRXc.6311A>T (p.Asp2104Val)
c.1409A>T (p.Asp470Val)
c.6197A>T (p.Asp2066Val)
c.*5939A>T (n.*5939A>T)
c.795A>T
n.3381A>T
c.6308A>T (p.Asp2103Val)
c.6224A>T (p.Asp2075Val)
c.6194A>T (p.Asp2065Val)
c.6146A>T (p.Asp2049Val)
c.6107A>T (p.Asp2036Val)
c.6032A>T (p.Asp2011Val)
n.6653A>T
c.6221A>T (p.Asp2074Val)
c.6191A>T (p.Asp2064Val)
c.6143A>T (p.Asp2048Val)
c.6110A>T (p.Asp2037Val)
c.6080A>T (p.Asp2027Val)
c.6077A>T (p.Asp2026Val)
c.6029A>T (p.Asp2010Val)
c.5993A>T (p.Asp1998Val)
c.5990A>T (p.Asp1997Val)
c.5945A>T (p.Asp1982Val)
n.6610A>T
Xg.77574265T>CCA413700889ATRXc.6311A>G (p.Asp2104Gly)
c.1409A>G (p.Asp470Gly)
c.6197A>G (p.Asp2066Gly)
c.*5939A>G (n.*5939A>G)
c.795A>G
n.3381A>G
c.6308A>G (p.Asp2103Gly)
c.6224A>G (p.Asp2075Gly)
c.6194A>G (p.Asp2065Gly)
c.6146A>G (p.Asp2049Gly)
c.6107A>G (p.Asp2036Gly)
c.6032A>G (p.Asp2011Gly)
n.6653A>G
c.6221A>G (p.Asp2074Gly)
c.6191A>G (p.Asp2064Gly)
c.6143A>G (p.Asp2048Gly)
c.6110A>G (p.Asp2037Gly)
c.6080A>G (p.Asp2027Gly)
c.6077A>G (p.Asp2026Gly)
c.6029A>G (p.Asp2010Gly)
c.5993A>G (p.Asp1998Gly)
c.5990A>G (p.Asp1997Gly)
c.5945A>G (p.Asp1982Gly)
n.6610A>G
Xg.77574265T>GCA413700890ATRXc.6311A>C (p.Asp2104Ala)
c.1409A>C (p.Asp470Ala)
c.6197A>C (p.Asp2066Ala)
c.*5939A>C (n.*5939A>C)
c.795A>C
n.3381A>C
c.6308A>C (p.Asp2103Ala)
c.6224A>C (p.Asp2075Ala)
c.6194A>C (p.Asp2065Ala)
c.6146A>C (p.Asp2049Ala)
c.6107A>C (p.Asp2036Ala)
c.6032A>C (p.Asp2011Ala)
n.6653A>C
c.6221A>C (p.Asp2074Ala)
c.6191A>C (p.Asp2064Ala)
c.6143A>C (p.Asp2048Ala)
c.6110A>C (p.Asp2037Ala)
c.6080A>C (p.Asp2027Ala)
c.6077A>C (p.Asp2026Ala)
c.6029A>C (p.Asp2010Ala)
c.5993A>C (p.Asp1998Ala)
c.5990A>C (p.Asp1997Ala)
c.5945A>C (p.Asp1982Ala)
n.6610A>C
Xg.77574266C>ACA413700893ATRXc.6310G>T (p.Asp2104Tyr)
c.1408G>T (p.Asp470Tyr)
c.6196G>T (p.Asp2066Tyr)
c.*5938G>T (n.*5938G>T)
c.794G>T
n.3380G>T
c.6307G>T (p.Asp2103Tyr)
c.6223G>T (p.Asp2075Tyr)
c.6193G>T (p.Asp2065Tyr)
c.6145G>T (p.Asp2049Tyr)
c.6106G>T (p.Asp2036Tyr)
c.6031G>T (p.Asp2011Tyr)
n.6652G>T
c.6220G>T (p.Asp2074Tyr)
c.6190G>T (p.Asp2064Tyr)
c.6142G>T (p.Asp2048Tyr)
c.6109G>T (p.Asp2037Tyr)
c.6079G>T (p.Asp2027Tyr)
c.6076G>T (p.Asp2026Tyr)
c.6028G>T (p.Asp2010Tyr)
c.5992G>T (p.Asp1998Tyr)
c.5989G>T (p.Asp1997Tyr)
c.5944G>T (p.Asp1982Tyr)
n.6609G>T
 dbSNP
Xg.77574266C>GCA413700894ATRXc.6310G>C (p.Asp2104His)
c.1408G>C (p.Asp470His)
c.6196G>C (p.Asp2066His)
c.*5938G>C (n.*5938G>C)
c.794G>C
n.3380G>C
c.6307G>C (p.Asp2103His)
c.6223G>C (p.Asp2075His)
c.6193G>C (p.Asp2065His)
c.6145G>C (p.Asp2049His)
c.6106G>C (p.Asp2036His)
c.6031G>C (p.Asp2011His)
n.6652G>C
c.6220G>C (p.Asp2074His)
c.6190G>C (p.Asp2064His)
c.6142G>C (p.Asp2048His)
c.6109G>C (p.Asp2037His)
c.6079G>C (p.Asp2027His)
c.6076G>C (p.Asp2026His)
c.6028G>C (p.Asp2010His)
c.5992G>C (p.Asp1998His)
c.5989G>C (p.Asp1997His)
c.5944G>C (p.Asp1982His)
n.6609G>C
Xg.77574266C>TCA413700896ATRXc.6310G>A (p.Asp2104Asn)
c.1408G>A (p.Asp470Asn)
c.6196G>A (p.Asp2066Asn)
c.*5938G>A (n.*5938G>A)
c.794G>A
n.3380G>A
c.6307G>A (p.Asp2103Asn)
c.6223G>A (p.Asp2075Asn)
c.6193G>A (p.Asp2065Asn)
c.6145G>A (p.Asp2049Asn)
c.6106G>A (p.Asp2036Asn)
c.6031G>A (p.Asp2011Asn)
n.6652G>A
c.6220G>A (p.Asp2074Asn)
c.6190G>A (p.Asp2064Asn)
c.6142G>A (p.Asp2048Asn)
c.6109G>A (p.Asp2037Asn)
c.6079G>A (p.Asp2027Asn)
c.6076G>A (p.Asp2026Asn)
c.6028G>A (p.Asp2010Asn)
c.5992G>A (p.Asp1998Asn)
c.5989G>A (p.Asp1997Asn)
c.5944G>A (p.Asp1982Asn)
n.6609G>A
Xg.77574267A>CCA413700897ATRXc.6309T>G (p.Asn2103Lys)
c.1407T>G (p.Asn469Lys)
c.6195T>G (p.Asn2065Lys)
c.*5937T>G (n.*5937T>G)
c.793T>G
n.3379T>G
c.6306T>G (p.Asn2102Lys)
c.6222T>G (p.Asn2074Lys)
c.6192T>G (p.Asn2064Lys)
c.6144T>G (p.Asn2048Lys)
c.6105T>G (p.Asn2035Lys)
c.6030T>G (p.Asn2010Lys)
n.6651T>G
c.6219T>G (p.Asn2073Lys)
c.6189T>G (p.Asn2063Lys)
c.6141T>G (p.Asn2047Lys)
c.6108T>G (p.Asn2036Lys)
c.6078T>G (p.Asn2026Lys)
c.6075T>G (p.Asn2025Lys)
c.6027T>G (p.Asn2009Lys)
c.5991T>G (p.Asn1997Lys)
c.5988T>G (p.Asn1996Lys)
c.5943T>G (p.Asn1981Lys)
n.6608T>G
 gnomAD v4
Xg.77574267A>GCA517374756ATRXc.6309T>C (p.Asn2103=)
c.1407T>C (p.Asn469=)
c.6195T>C (p.Asn2065=)
c.*5937T>C (n.*5937T>C)
c.793T>C
n.3379T>C
c.6306T>C (p.Asn2102=)
c.6222T>C (p.Asn2074=)
c.6192T>C (p.Asn2064=)
c.6144T>C (p.Asn2048=)
c.6105T>C (p.Asn2035=)
c.6030T>C (p.Asn2010=)
n.6651T>C
c.6219T>C (p.Asn2073=)
c.6189T>C (p.Asn2063=)
c.6141T>C (p.Asn2047=)
c.6108T>C (p.Asn2036=)
c.6078T>C (p.Asn2026=)
c.6075T>C (p.Asn2025=)
c.6027T>C (p.Asn2009=)
c.5991T>C (p.Asn1997=)
c.5988T>C (p.Asn1996=)
c.5943T>C (p.Asn1981=)
n.6608T>C
Xg.77574267A>TCA413700899ATRXc.6309T>A (p.Asn2103Lys)
c.1407T>A (p.Asn469Lys)
c.6195T>A (p.Asn2065Lys)
c.*5937T>A (n.*5937T>A)
c.793T>A
n.3379T>A
c.6306T>A (p.Asn2102Lys)
c.6222T>A (p.Asn2074Lys)
c.6192T>A (p.Asn2064Lys)
c.6144T>A (p.Asn2048Lys)
c.6105T>A (p.Asn2035Lys)
c.6030T>A (p.Asn2010Lys)
n.6651T>A
c.6219T>A (p.Asn2073Lys)
c.6189T>A (p.Asn2063Lys)
c.6141T>A (p.Asn2047Lys)
c.6108T>A (p.Asn2036Lys)
c.6078T>A (p.Asn2026Lys)
c.6075T>A (p.Asn2025Lys)
c.6027T>A (p.Asn2009Lys)
c.5991T>A (p.Asn1997Lys)
c.5988T>A (p.Asn1996Lys)
c.5943T>A (p.Asn1981Lys)
n.6608T>A
Xg.77574268T>ACA413700902ATRXc.6308A>T (p.Asn2103Ile)
c.1406A>T (p.Asn469Ile)
c.6194A>T (p.Asn2065Ile)
c.*5936A>T (n.*5936A>T)
c.792A>T
n.3378A>T
c.6305A>T (p.Asn2102Ile)
c.6221A>T (p.Asn2074Ile)
c.6191A>T (p.Asn2064Ile)
c.6143A>T (p.Asn2048Ile)
c.6104A>T (p.Asn2035Ile)
c.6029A>T (p.Asn2010Ile)
n.6650A>T
c.6218A>T (p.Asn2073Ile)
c.6188A>T (p.Asn2063Ile)
c.6140A>T (p.Asn2047Ile)
c.6107A>T (p.Asn2036Ile)
c.6077A>T (p.Asn2026Ile)
c.6074A>T (p.Asn2025Ile)
c.6026A>T (p.Asn2009Ile)
c.5990A>T (p.Asn1997Ile)
c.5987A>T (p.Asn1996Ile)
c.5942A>T (p.Asn1981Ile)
n.6607A>T
Xg.77574268T>CCA413700903ATRXc.6308A>G (p.Asn2103Ser)
c.1406A>G (p.Asn469Ser)
c.6194A>G (p.Asn2065Ser)
c.*5936A>G (n.*5936A>G)
c.792A>G
n.3378A>G
c.6305A>G (p.Asn2102Ser)
c.6221A>G (p.Asn2074Ser)
c.6191A>G (p.Asn2064Ser)
c.6143A>G (p.Asn2048Ser)
c.6104A>G (p.Asn2035Ser)
c.6029A>G (p.Asn2010Ser)
n.6650A>G
c.6218A>G (p.Asn2073Ser)
c.6188A>G (p.Asn2063Ser)
c.6140A>G (p.Asn2047Ser)
c.6107A>G (p.Asn2036Ser)
c.6077A>G (p.Asn2026Ser)
c.6074A>G (p.Asn2025Ser)
c.6026A>G (p.Asn2009Ser)
c.5990A>G (p.Asn1997Ser)
c.5987A>G (p.Asn1996Ser)
c.5942A>G (p.Asn1981Ser)
n.6607A>G
 gnomAD v4
Xg.77574268T>GCA413700905ATRXc.6308A>C (p.Asn2103Thr)
c.1406A>C (p.Asn469Thr)
c.6194A>C (p.Asn2065Thr)
c.*5936A>C (n.*5936A>C)
c.792A>C
n.3378A>C
c.6305A>C (p.Asn2102Thr)
c.6221A>C (p.Asn2074Thr)
c.6191A>C (p.Asn2064Thr)
c.6143A>C (p.Asn2048Thr)
c.6104A>C (p.Asn2035Thr)
c.6029A>C (p.Asn2010Thr)
n.6650A>C
c.6218A>C (p.Asn2073Thr)
c.6188A>C (p.Asn2063Thr)
c.6140A>C (p.Asn2047Thr)
c.6107A>C (p.Asn2036Thr)
c.6077A>C (p.Asn2026Thr)
c.6074A>C (p.Asn2025Thr)
c.6026A>C (p.Asn2009Thr)
c.5990A>C (p.Asn1997Thr)
c.5987A>C (p.Asn1996Thr)
c.5942A>C (p.Asn1981Thr)
n.6607A>C
Xg.77574269T>ACA413700907ATRXc.6307A>T (p.Asn2103Tyr)
c.1405A>T (p.Asn469Tyr)
c.6193A>T (p.Asn2065Tyr)
c.*5935A>T (n.*5935A>T)
c.791A>T
n.3377A>T
c.6304A>T (p.Asn2102Tyr)
c.6220A>T (p.Asn2074Tyr)
c.6190A>T (p.Asn2064Tyr)
c.6142A>T (p.Asn2048Tyr)
c.6103A>T (p.Asn2035Tyr)
c.6028A>T (p.Asn2010Tyr)
n.6649A>T
c.6217A>T (p.Asn2073Tyr)
c.6187A>T (p.Asn2063Tyr)
c.6139A>T (p.Asn2047Tyr)
c.6106A>T (p.Asn2036Tyr)
c.6076A>T (p.Asn2026Tyr)
c.6073A>T (p.Asn2025Tyr)
c.6025A>T (p.Asn2009Tyr)
c.5989A>T (p.Asn1997Tyr)
c.5986A>T (p.Asn1996Tyr)
c.5941A>T (p.Asn1981Tyr)
n.6606A>T
Xg.77574269T>CCA413700910ATRXc.6307A>G (p.Asn2103Asp)
c.1405A>G (p.Asn469Asp)
c.6193A>G (p.Asn2065Asp)
c.*5935A>G (n.*5935A>G)
c.791A>G
n.3377A>G
c.6304A>G (p.Asn2102Asp)
c.6220A>G (p.Asn2074Asp)
c.6190A>G (p.Asn2064Asp)
c.6142A>G (p.Asn2048Asp)
c.6103A>G (p.Asn2035Asp)
c.6028A>G (p.Asn2010Asp)
n.6649A>G
c.6217A>G (p.Asn2073Asp)
c.6187A>G (p.Asn2063Asp)
c.6139A>G (p.Asn2047Asp)
c.6106A>G (p.Asn2036Asp)
c.6076A>G (p.Asn2026Asp)
c.6073A>G (p.Asn2025Asp)
c.6025A>G (p.Asn2009Asp)
c.5989A>G (p.Asn1997Asp)
c.5986A>G (p.Asn1996Asp)
c.5941A>G (p.Asn1981Asp)
n.6606A>G
Xg.77574269T>GCA413700912ATRXc.6307A>C (p.Asn2103His)
c.1405A>C (p.Asn469His)
c.6193A>C (p.Asn2065His)
c.*5935A>C (n.*5935A>C)
c.791A>C
n.3377A>C
c.6304A>C (p.Asn2102His)
c.6220A>C (p.Asn2074His)
c.6190A>C (p.Asn2064His)
c.6142A>C (p.Asn2048His)
c.6103A>C (p.Asn2035His)
c.6028A>C (p.Asn2010His)
n.6649A>C
c.6217A>C (p.Asn2073His)
c.6187A>C (p.Asn2063His)
c.6139A>C (p.Asn2047His)
c.6106A>C (p.Asn2036His)
c.6076A>C (p.Asn2026His)
c.6073A>C (p.Asn2025His)
c.6025A>C (p.Asn2009His)
c.5989A>C (p.Asn1997His)
c.5986A>C (p.Asn1996His)
c.5941A>C (p.Asn1981His)
n.6606A>C
Xg.77574270A>CCA413700914ATRXc.6306T>G (p.Phe2102Leu)
c.1404T>G (p.Phe468Leu)
c.6192T>G (p.Phe2064Leu)
c.*5934T>G (n.*5934T>G)
c.790T>G
n.3376T>G
c.6303T>G (p.Phe2101Leu)
c.6219T>G (p.Phe2073Leu)
c.6189T>G (p.Phe2063Leu)
c.6141T>G (p.Phe2047Leu)
c.6102T>G (p.Phe2034Leu)
c.6027T>G (p.Phe2009Leu)
n.6648T>G
c.6216T>G (p.Phe2072Leu)
c.6186T>G (p.Phe2062Leu)
c.6138T>G (p.Phe2046Leu)
c.6105T>G (p.Phe2035Leu)
c.6075T>G (p.Phe2025Leu)
c.6072T>G (p.Phe2024Leu)
c.6024T>G (p.Phe2008Leu)
c.5988T>G (p.Phe1996Leu)
c.5985T>G (p.Phe1995Leu)
c.5940T>G (p.Phe1980Leu)
n.6605T>G
Xg.77574270A>GCA517374757ATRXc.6306T>C (p.Phe2102=)
c.1404T>C (p.Phe468=)
c.6192T>C (p.Phe2064=)
c.*5934T>C (n.*5934T>C)
c.790T>C
n.3376T>C
c.6303T>C (p.Phe2101=)
c.6219T>C (p.Phe2073=)
c.6189T>C (p.Phe2063=)
c.6141T>C (p.Phe2047=)
c.6102T>C (p.Phe2034=)
c.6027T>C (p.Phe2009=)
n.6648T>C
c.6216T>C (p.Phe2072=)
c.6186T>C (p.Phe2062=)
c.6138T>C (p.Phe2046=)
c.6105T>C (p.Phe2035=)
c.6075T>C (p.Phe2025=)
c.6072T>C (p.Phe2024=)
c.6024T>C (p.Phe2008=)
c.5988T>C (p.Phe1996=)
c.5985T>C (p.Phe1995=)
c.5940T>C (p.Phe1980=)
n.6605T>C
Xg.77574270A>TCA413700916ATRXc.6306T>A (p.Phe2102Leu)
c.1404T>A (p.Phe468Leu)
c.6192T>A (p.Phe2064Leu)
c.*5934T>A (n.*5934T>A)
c.790T>A
n.3376T>A
c.6303T>A (p.Phe2101Leu)
c.6219T>A (p.Phe2073Leu)
c.6189T>A (p.Phe2063Leu)
c.6141T>A (p.Phe2047Leu)
c.6102T>A (p.Phe2034Leu)
c.6027T>A (p.Phe2009Leu)
n.6648T>A
c.6216T>A (p.Phe2072Leu)
c.6186T>A (p.Phe2062Leu)
c.6138T>A (p.Phe2046Leu)
c.6105T>A (p.Phe2035Leu)
c.6075T>A (p.Phe2025Leu)
c.6072T>A (p.Phe2024Leu)
c.6024T>A (p.Phe2008Leu)
c.5988T>A (p.Phe1996Leu)
c.5985T>A (p.Phe1995Leu)
c.5940T>A (p.Phe1980Leu)
n.6605T>A
Xg.77574272delCA2579648812ATRXc.6306del (p.Phe2102LeufsTer7)
c.1404del (p.Phe468LeufsTer7)
c.6192del (p.Phe2064LeufsTer7)
c.*5934del (n.*5934del)
c.790del
n.3376del
c.6303del (p.Phe2101LeufsTer7)
c.6219del (p.Phe2073LeufsTer7)
c.6189del (p.Phe2063LeufsTer7)
c.6141del (p.Phe2047LeufsTer7)
c.6102del (p.Phe2034LeufsTer7)
c.6027del (p.Phe2009LeufsTer7)
n.6648del
c.6216del (p.Phe2072LeufsTer7)
c.6186del (p.Phe2062LeufsTer7)
c.6138del (p.Phe2046LeufsTer7)
c.6105del (p.Phe2035LeufsTer7)
c.6075del (p.Phe2025LeufsTer7)
c.6072del (p.Phe2024LeufsTer7)
c.6024del (p.Phe2008LeufsTer7)
c.5988del (p.Phe1996LeufsTer7)
c.5985del (p.Phe1995LeufsTer7)
c.5940del (p.Phe1980LeufsTer7)
n.6605del
Xg.77574271A>CCA413700918ATRXc.6305T>G (p.Phe2102Cys)
c.1403T>G (p.Phe468Cys)
c.6191T>G (p.Phe2064Cys)
c.*5933T>G (n.*5933T>G)
c.789T>G
n.3375T>G
c.6302T>G (p.Phe2101Cys)
c.6218T>G (p.Phe2073Cys)
c.6188T>G (p.Phe2063Cys)
c.6140T>G (p.Phe2047Cys)
c.6101T>G (p.Phe2034Cys)
c.6026T>G (p.Phe2009Cys)
n.6647T>G
c.6215T>G (p.Phe2072Cys)
c.6185T>G (p.Phe2062Cys)
c.6137T>G (p.Phe2046Cys)
c.6104T>G (p.Phe2035Cys)
c.6074T>G (p.Phe2025Cys)
c.6071T>G (p.Phe2024Cys)
c.6023T>G (p.Phe2008Cys)
c.5987T>G (p.Phe1996Cys)
c.5984T>G (p.Phe1995Cys)
c.5939T>G (p.Phe1980Cys)
n.6604T>G
 COSMIC COSMIC
Xg.77574271A>GCA413700919ATRXc.6305T>C (p.Phe2102Ser)
c.1403T>C (p.Phe468Ser)
c.6191T>C (p.Phe2064Ser)
c.*5933T>C (n.*5933T>C)
c.789T>C
n.3375T>C
c.6302T>C (p.Phe2101Ser)
c.6218T>C (p.Phe2073Ser)
c.6188T>C (p.Phe2063Ser)
c.6140T>C (p.Phe2047Ser)
c.6101T>C (p.Phe2034Ser)
c.6026T>C (p.Phe2009Ser)
n.6647T>C
c.6215T>C (p.Phe2072Ser)
c.6185T>C (p.Phe2062Ser)
c.6137T>C (p.Phe2046Ser)
c.6104T>C (p.Phe2035Ser)
c.6074T>C (p.Phe2025Ser)
c.6071T>C (p.Phe2024Ser)
c.6023T>C (p.Phe2008Ser)
c.5987T>C (p.Phe1996Ser)
c.5984T>C (p.Phe1995Ser)
c.5939T>C (p.Phe1980Ser)
n.6604T>C
Xg.77574271A>TCA413700923ATRXc.6305T>A (p.Phe2102Tyr)
c.1403T>A (p.Phe468Tyr)
c.6191T>A (p.Phe2064Tyr)
c.*5933T>A (n.*5933T>A)
c.789T>A
n.3375T>A
c.6302T>A (p.Phe2101Tyr)
c.6218T>A (p.Phe2073Tyr)
c.6188T>A (p.Phe2063Tyr)
c.6140T>A (p.Phe2047Tyr)
c.6101T>A (p.Phe2034Tyr)
c.6026T>A (p.Phe2009Tyr)
n.6647T>A
c.6215T>A (p.Phe2072Tyr)
c.6185T>A (p.Phe2062Tyr)
c.6137T>A (p.Phe2046Tyr)
c.6104T>A (p.Phe2035Tyr)
c.6074T>A (p.Phe2025Tyr)
c.6071T>A (p.Phe2024Tyr)
c.6023T>A (p.Phe2008Tyr)
c.5987T>A (p.Phe1996Tyr)
c.5984T>A (p.Phe1995Tyr)
c.5939T>A (p.Phe1980Tyr)
n.6604T>A
Xg.77574272A>CCA413700926ATRXc.6304T>G (p.Phe2102Val)
c.1402T>G (p.Phe468Val)
c.6190T>G (p.Phe2064Val)
c.*5932T>G (n.*5932T>G)
c.788T>G
n.3374T>G
c.6301T>G (p.Phe2101Val)
c.6217T>G (p.Phe2073Val)
c.6187T>G (p.Phe2063Val)
c.6139T>G (p.Phe2047Val)
c.6100T>G (p.Phe2034Val)
c.6025T>G (p.Phe2009Val)
n.6646T>G
c.6214T>G (p.Phe2072Val)
c.6184T>G (p.Phe2062Val)
c.6136T>G (p.Phe2046Val)
c.6103T>G (p.Phe2035Val)
c.6073T>G (p.Phe2025Val)
c.6070T>G (p.Phe2024Val)
c.6022T>G (p.Phe2008Val)
c.5986T>G (p.Phe1996Val)
c.5983T>G (p.Phe1995Val)
c.5938T>G (p.Phe1980Val)
n.6603T>G
Xg.77574272A>GCA413700928ATRXc.6304T>C (p.Phe2102Leu)
c.1402T>C (p.Phe468Leu)
c.6190T>C (p.Phe2064Leu)
c.*5932T>C (n.*5932T>C)
c.788T>C
n.3374T>C
c.6301T>C (p.Phe2101Leu)
c.6217T>C (p.Phe2073Leu)
c.6187T>C (p.Phe2063Leu)
c.6139T>C (p.Phe2047Leu)
c.6100T>C (p.Phe2034Leu)
c.6025T>C (p.Phe2009Leu)
n.6646T>C
c.6214T>C (p.Phe2072Leu)
c.6184T>C (p.Phe2062Leu)
c.6136T>C (p.Phe2046Leu)
c.6103T>C (p.Phe2035Leu)
c.6073T>C (p.Phe2025Leu)
c.6070T>C (p.Phe2024Leu)
c.6022T>C (p.Phe2008Leu)
c.5986T>C (p.Phe1996Leu)
c.5983T>C (p.Phe1995Leu)
c.5938T>C (p.Phe1980Leu)
n.6603T>C
Xg.77574272A>TCA413700930ATRXc.6304T>A (p.Phe2102Ile)
c.1402T>A (p.Phe468Ile)
c.6190T>A (p.Phe2064Ile)
c.*5932T>A (n.*5932T>A)
c.788T>A
n.3374T>A
c.6301T>A (p.Phe2101Ile)
c.6217T>A (p.Phe2073Ile)
c.6187T>A (p.Phe2063Ile)
c.6139T>A (p.Phe2047Ile)
c.6100T>A (p.Phe2034Ile)
c.6025T>A (p.Phe2009Ile)
n.6646T>A
c.6214T>A (p.Phe2072Ile)
c.6184T>A (p.Phe2062Ile)
c.6136T>A (p.Phe2046Ile)
c.6103T>A (p.Phe2035Ile)
c.6073T>A (p.Phe2025Ile)
c.6070T>A (p.Phe2024Ile)
c.6022T>A (p.Phe2008Ile)
c.5986T>A (p.Phe1996Ile)
c.5983T>A (p.Phe1995Ile)
c.5938T>A (p.Phe1980Ile)
n.6603T>A
Xg.77574273T>ACA413700931ATRXc.6303A>T (p.Glu2101Asp)
c.1401A>T (p.Glu467Asp)
c.6189A>T (p.Glu2063Asp)
c.*5931A>T (n.*5931A>T)
c.787A>T
n.3373A>T
c.6300A>T (p.Glu2100Asp)
c.6216A>T (p.Glu2072Asp)
c.6186A>T (p.Glu2062Asp)
c.6138A>T (p.Glu2046Asp)
c.6099A>T (p.Glu2033Asp)
c.6024A>T (p.Glu2008Asp)
n.6645A>T
c.6213A>T (p.Glu2071Asp)
c.6183A>T (p.Glu2061Asp)
c.6135A>T (p.Glu2045Asp)
c.6102A>T (p.Glu2034Asp)
c.6072A>T (p.Glu2024Asp)
c.6069A>T (p.Glu2023Asp)
c.6021A>T (p.Glu2007Asp)
c.5985A>T (p.Glu1995Asp)
c.5982A>T (p.Glu1994Asp)
c.5937A>T (p.Glu1979Asp)
n.6602A>T
Xg.77574273T>CCA517374758ATRXc.6303A>G (p.Glu2101=)
c.1401A>G (p.Glu467=)
c.6189A>G (p.Glu2063=)
c.*5931A>G (n.*5931A>G)
c.787A>G
n.3373A>G
c.6300A>G (p.Glu2100=)
c.6216A>G (p.Glu2072=)
c.6186A>G (p.Glu2062=)
c.6138A>G (p.Glu2046=)
c.6099A>G (p.Glu2033=)
c.6024A>G (p.Glu2008=)
n.6645A>G
c.6213A>G (p.Glu2071=)
c.6183A>G (p.Glu2061=)
c.6135A>G (p.Glu2045=)
c.6102A>G (p.Glu2034=)
c.6072A>G (p.Glu2024=)
c.6069A>G (p.Glu2023=)
c.6021A>G (p.Glu2007=)
c.5985A>G (p.Glu1995=)
c.5982A>G (p.Glu1994=)
c.5937A>G (p.Glu1979=)
n.6602A>G
Xg.77574273T>GCA413700934ATRXc.6303A>C (p.Glu2101Asp)
c.1401A>C (p.Glu467Asp)
c.6189A>C (p.Glu2063Asp)
c.*5931A>C (n.*5931A>C)
c.787A>C
n.3373A>C
c.6300A>C (p.Glu2100Asp)
c.6216A>C (p.Glu2072Asp)
c.6186A>C (p.Glu2062Asp)
c.6138A>C (p.Glu2046Asp)
c.6099A>C (p.Glu2033Asp)
c.6024A>C (p.Glu2008Asp)
n.6645A>C
c.6213A>C (p.Glu2071Asp)
c.6183A>C (p.Glu2061Asp)
c.6135A>C (p.Glu2045Asp)
c.6102A>C (p.Glu2034Asp)
c.6072A>C (p.Glu2024Asp)
c.6069A>C (p.Glu2023Asp)
c.6021A>C (p.Glu2007Asp)
c.5985A>C (p.Glu1995Asp)
c.5982A>C (p.Glu1994Asp)
c.5937A>C (p.Glu1979Asp)
n.6602A>C
Xg.77574274T>ACA413700936ATRXc.6302A>T (p.Glu2101Val)
c.1400A>T (p.Glu467Val)
c.6188A>T (p.Glu2063Val)
c.*5930A>T (n.*5930A>T)
c.786A>T
n.3372A>T
c.6299A>T (p.Glu2100Val)
c.6215A>T (p.Glu2072Val)
c.6185A>T (p.Glu2062Val)
c.6137A>T (p.Glu2046Val)
c.6098A>T (p.Glu2033Val)
c.6023A>T (p.Glu2008Val)
n.6644A>T
c.6212A>T (p.Glu2071Val)
c.6182A>T (p.Glu2061Val)
c.6134A>T (p.Glu2045Val)
c.6101A>T (p.Glu2034Val)
c.6071A>T (p.Glu2024Val)
c.6068A>T (p.Glu2023Val)
c.6020A>T (p.Glu2007Val)
c.5984A>T (p.Glu1995Val)
c.5981A>T (p.Glu1994Val)
c.5936A>T (p.Glu1979Val)
n.6601A>T
Xg.77574274T>CCA413700938ATRXc.6302A>G (p.Glu2101Gly)
c.1400A>G (p.Glu467Gly)
c.6188A>G (p.Glu2063Gly)
c.*5930A>G (n.*5930A>G)
c.786A>G
n.3372A>G
c.6299A>G (p.Glu2100Gly)
c.6215A>G (p.Glu2072Gly)
c.6185A>G (p.Glu2062Gly)
c.6137A>G (p.Glu2046Gly)
c.6098A>G (p.Glu2033Gly)
c.6023A>G (p.Glu2008Gly)
n.6644A>G
c.6212A>G (p.Glu2071Gly)
c.6182A>G (p.Glu2061Gly)
c.6134A>G (p.Glu2045Gly)
c.6101A>G (p.Glu2034Gly)
c.6071A>G (p.Glu2024Gly)
c.6068A>G (p.Glu2023Gly)
c.6020A>G (p.Glu2007Gly)
c.5984A>G (p.Glu1995Gly)
c.5981A>G (p.Glu1994Gly)
c.5936A>G (p.Glu1979Gly)
n.6601A>G
Xg.77574274T>GCA413700939ATRXc.6302A>C (p.Glu2101Ala)
c.1400A>C (p.Glu467Ala)
c.6188A>C (p.Glu2063Ala)
c.*5930A>C (n.*5930A>C)
c.786A>C
n.3372A>C
c.6299A>C (p.Glu2100Ala)
c.6215A>C (p.Glu2072Ala)
c.6185A>C (p.Glu2062Ala)
c.6137A>C (p.Glu2046Ala)
c.6098A>C (p.Glu2033Ala)
c.6023A>C (p.Glu2008Ala)
n.6644A>C
c.6212A>C (p.Glu2071Ala)
c.6182A>C (p.Glu2061Ala)
c.6134A>C (p.Glu2045Ala)
c.6101A>C (p.Glu2034Ala)
c.6071A>C (p.Glu2024Ala)
c.6068A>C (p.Glu2023Ala)
c.6020A>C (p.Glu2007Ala)
c.5984A>C (p.Glu1995Ala)
c.5981A>C (p.Glu1994Ala)
c.5936A>C (p.Glu1979Ala)
n.6601A>C
Xg.77574275C>ACA413700942ATRXc.6301G>T (p.Glu2101Ter)
c.1399G>T (p.Glu467Ter)
c.6187G>T (p.Glu2063Ter)
c.*5929G>T (n.*5929G>T)
c.785G>T
n.3371G>T
c.6298G>T (p.Glu2100Ter)
c.6214G>T (p.Glu2072Ter)
c.6184G>T (p.Glu2062Ter)
c.6136G>T (p.Glu2046Ter)
c.6097G>T (p.Glu2033Ter)
c.6022G>T (p.Glu2008Ter)
n.6643G>T
c.6211G>T (p.Glu2071Ter)
c.6181G>T (p.Glu2061Ter)
c.6133G>T (p.Glu2045Ter)
c.6100G>T (p.Glu2034Ter)
c.6070G>T (p.Glu2024Ter)
c.6067G>T (p.Glu2023Ter)
c.6019G>T (p.Glu2007Ter)
c.5983G>T (p.Glu1995Ter)
c.5980G>T (p.Glu1994Ter)
c.5935G>T (p.Glu1979Ter)
n.6600G>T
Xg.77574275C>GCA413700941ATRXc.6301G>C (p.Glu2101Gln)
c.1399G>C (p.Glu467Gln)
c.6187G>C (p.Glu2063Gln)
c.*5929G>C (n.*5929G>C)
c.785G>C
n.3371G>C
c.6298G>C (p.Glu2100Gln)
c.6214G>C (p.Glu2072Gln)
c.6184G>C (p.Glu2062Gln)
c.6136G>C (p.Glu2046Gln)
c.6097G>C (p.Glu2033Gln)
c.6022G>C (p.Glu2008Gln)
n.6643G>C
c.6211G>C (p.Glu2071Gln)
c.6181G>C (p.Glu2061Gln)
c.6133G>C (p.Glu2045Gln)
c.6100G>C (p.Glu2034Gln)
c.6070G>C (p.Glu2024Gln)
c.6067G>C (p.Glu2023Gln)
c.6019G>C (p.Glu2007Gln)
c.5983G>C (p.Glu1995Gln)
c.5980G>C (p.Glu1994Gln)
c.5935G>C (p.Glu1979Gln)
n.6600G>C
Xg.77574275C>TCA413700940ATRXc.6301G>A (p.Glu2101Lys)
c.1399G>A (p.Glu467Lys)
c.6187G>A (p.Glu2063Lys)
c.*5929G>A (n.*5929G>A)
c.785G>A
n.3371G>A
c.6298G>A (p.Glu2100Lys)
c.6214G>A (p.Glu2072Lys)
c.6184G>A (p.Glu2062Lys)
c.6136G>A (p.Glu2046Lys)
c.6097G>A (p.Glu2033Lys)
c.6022G>A (p.Glu2008Lys)
n.6643G>A
c.6211G>A (p.Glu2071Lys)
c.6181G>A (p.Glu2061Lys)
c.6133G>A (p.Glu2045Lys)
c.6100G>A (p.Glu2034Lys)
c.6070G>A (p.Glu2024Lys)
c.6067G>A (p.Glu2023Lys)
c.6019G>A (p.Glu2007Lys)
c.5983G>A (p.Glu1995Lys)
c.5980G>A (p.Glu1994Lys)
c.5935G>A (p.Glu1979Lys)
n.6600G>A
 COSMIC COSMIC
Xg.77574276T>ACA413700943ATRXc.6300A>T (p.Glu2100Asp)
c.1398A>T (p.Glu466Asp)
c.6186A>T (p.Glu2062Asp)
c.*5928A>T (n.*5928A>T)
c.784A>T
n.3370A>T
c.6297A>T (p.Glu2099Asp)
c.6213A>T (p.Glu2071Asp)
c.6183A>T (p.Glu2061Asp)
c.6135A>T (p.Glu2045Asp)
c.6096A>T (p.Glu2032Asp)
c.6021A>T (p.Glu2007Asp)
n.6642A>T
c.6210A>T (p.Glu2070Asp)
c.6180A>T (p.Glu2060Asp)
c.6132A>T (p.Glu2044Asp)
c.6099A>T (p.Glu2033Asp)
c.6069A>T (p.Glu2023Asp)
c.6066A>T (p.Glu2022Asp)
c.6018A>T (p.Glu2006Asp)
c.5982A>T (p.Glu1994Asp)
c.5979A>T (p.Glu1993Asp)
c.5934A>T (p.Glu1978Asp)
n.6599A>T
Xg.77574276T>CCA517374760ATRXc.6300A>G (p.Glu2100=)
c.1398A>G (p.Glu466=)
c.6186A>G (p.Glu2062=)
c.*5928A>G (n.*5928A>G)
c.784A>G
n.3370A>G
c.6297A>G (p.Glu2099=)
c.6213A>G (p.Glu2071=)
c.6183A>G (p.Glu2061=)
c.6135A>G (p.Glu2045=)
c.6096A>G (p.Glu2032=)
c.6021A>G (p.Glu2007=)
n.6642A>G
c.6210A>G (p.Glu2070=)
c.6180A>G (p.Glu2060=)
c.6132A>G (p.Glu2044=)
c.6099A>G (p.Glu2033=)
c.6069A>G (p.Glu2023=)
c.6066A>G (p.Glu2022=)
c.6018A>G (p.Glu2006=)
c.5982A>G (p.Glu1994=)
c.5979A>G (p.Glu1993=)
c.5934A>G (p.Glu1978=)
n.6599A>G
Xg.77574276T>GCA413700944ATRXc.6300A>C (p.Glu2100Asp)
c.1398A>C (p.Glu466Asp)
c.6186A>C (p.Glu2062Asp)
c.*5928A>C (n.*5928A>C)
c.784A>C
n.3370A>C
c.6297A>C (p.Glu2099Asp)
c.6213A>C (p.Glu2071Asp)
c.6183A>C (p.Glu2061Asp)
c.6135A>C (p.Glu2045Asp)
c.6096A>C (p.Glu2032Asp)
c.6021A>C (p.Glu2007Asp)
n.6642A>C
c.6210A>C (p.Glu2070Asp)
c.6180A>C (p.Glu2060Asp)
c.6132A>C (p.Glu2044Asp)
c.6099A>C (p.Glu2033Asp)
c.6069A>C (p.Glu2023Asp)
c.6066A>C (p.Glu2022Asp)
c.6018A>C (p.Glu2006Asp)
c.5982A>C (p.Glu1994Asp)
c.5979A>C (p.Glu1993Asp)
c.5934A>C (p.Glu1978Asp)
n.6599A>C
Xg.77574277T>ACA413700946ATRXc.6299A>T (p.Glu2100Val)
c.1397A>T (p.Glu466Val)
c.6185A>T (p.Glu2062Val)
c.*5927A>T (n.*5927A>T)
c.783A>T
n.3369A>T
c.6296A>T (p.Glu2099Val)
c.6212A>T (p.Glu2071Val)
c.6182A>T (p.Glu2061Val)
c.6134A>T (p.Glu2045Val)
c.6095A>T (p.Glu2032Val)
c.6020A>T (p.Glu2007Val)
n.6641A>T
c.6209A>T (p.Glu2070Val)
c.6179A>T (p.Glu2060Val)
c.6131A>T (p.Glu2044Val)
c.6098A>T (p.Glu2033Val)
c.6068A>T (p.Glu2023Val)
c.6065A>T (p.Glu2022Val)
c.6017A>T (p.Glu2006Val)
c.5981A>T (p.Glu1994Val)
c.5978A>T (p.Glu1993Val)
c.5933A>T (p.Glu1978Val)
n.6598A>T
Xg.77574277T>CCA413700947ATRXc.6299A>G (p.Glu2100Gly)
c.1397A>G (p.Glu466Gly)
c.6185A>G (p.Glu2062Gly)
c.*5927A>G (n.*5927A>G)
c.783A>G
n.3369A>G
c.6296A>G (p.Glu2099Gly)
c.6212A>G (p.Glu2071Gly)
c.6182A>G (p.Glu2061Gly)
c.6134A>G (p.Glu2045Gly)
c.6095A>G (p.Glu2032Gly)
c.6020A>G (p.Glu2007Gly)
n.6641A>G
c.6209A>G (p.Glu2070Gly)
c.6179A>G (p.Glu2060Gly)
c.6131A>G (p.Glu2044Gly)
c.6098A>G (p.Glu2033Gly)
c.6068A>G (p.Glu2023Gly)
c.6065A>G (p.Glu2022Gly)
c.6017A>G (p.Glu2006Gly)
c.5981A>G (p.Glu1994Gly)
c.5978A>G (p.Glu1993Gly)
c.5933A>G (p.Glu1978Gly)
n.6598A>G
Xg.77574277T>GCA413700949ATRXc.6299A>C (p.Glu2100Ala)
c.1397A>C (p.Glu466Ala)
c.6185A>C (p.Glu2062Ala)
c.*5927A>C (n.*5927A>C)
c.783A>C
n.3369A>C
c.6296A>C (p.Glu2099Ala)
c.6212A>C (p.Glu2071Ala)
c.6182A>C (p.Glu2061Ala)
c.6134A>C (p.Glu2045Ala)
c.6095A>C (p.Glu2032Ala)
c.6020A>C (p.Glu2007Ala)
n.6641A>C
c.6209A>C (p.Glu2070Ala)
c.6179A>C (p.Glu2060Ala)
c.6131A>C (p.Glu2044Ala)
c.6098A>C (p.Glu2033Ala)
c.6068A>C (p.Glu2023Ala)
c.6065A>C (p.Glu2022Ala)
c.6017A>C (p.Glu2006Ala)
c.5981A>C (p.Glu1994Ala)
c.5978A>C (p.Glu1993Ala)
c.5933A>C (p.Glu1978Ala)
n.6598A>C
Xg.77574278C>ACA413700956ATRXc.6298G>T (p.Glu2100Ter)
c.1396G>T (p.Glu466Ter)
c.6184G>T (p.Glu2062Ter)
c.*5926G>T (n.*5926G>T)
c.782G>T
n.3368G>T
c.6295G>T (p.Glu2099Ter)
c.6211G>T (p.Glu2071Ter)
c.6181G>T (p.Glu2061Ter)
c.6133G>T (p.Glu2045Ter)
c.6094G>T (p.Glu2032Ter)
c.6019G>T (p.Glu2007Ter)
n.6640G>T
c.6208G>T (p.Glu2070Ter)
c.6178G>T (p.Glu2060Ter)
c.6130G>T (p.Glu2044Ter)
c.6097G>T (p.Glu2033Ter)
c.6067G>T (p.Glu2023Ter)
c.6064G>T (p.Glu2022Ter)
c.6016G>T (p.Glu2006Ter)
c.5980G>T (p.Glu1994Ter)
c.5977G>T (p.Glu1993Ter)
c.5932G>T (p.Glu1978Ter)
n.6597G>T
Xg.77574278C>GCA413700954ATRXc.6298G>C (p.Glu2100Gln)
c.1396G>C (p.Glu466Gln)
c.6184G>C (p.Glu2062Gln)
c.*5926G>C (n.*5926G>C)
c.782G>C
n.3368G>C
c.6295G>C (p.Glu2099Gln)
c.6211G>C (p.Glu2071Gln)
c.6181G>C (p.Glu2061Gln)
c.6133G>C (p.Glu2045Gln)
c.6094G>C (p.Glu2032Gln)
c.6019G>C (p.Glu2007Gln)
n.6640G>C
c.6208G>C (p.Glu2070Gln)
c.6178G>C (p.Glu2060Gln)
c.6130G>C (p.Glu2044Gln)
c.6097G>C (p.Glu2033Gln)
c.6067G>C (p.Glu2023Gln)
c.6064G>C (p.Glu2022Gln)
c.6016G>C (p.Glu2006Gln)
c.5980G>C (p.Glu1994Gln)
c.5977G>C (p.Glu1993Gln)
c.5932G>C (p.Glu1978Gln)
n.6597G>C
Xg.77574278C>TCA413700952ATRXc.6298G>A (p.Glu2100Lys)
c.1396G>A (p.Glu466Lys)
c.6184G>A (p.Glu2062Lys)
c.*5926G>A (n.*5926G>A)
c.782G>A
n.3368G>A
c.6295G>A (p.Glu2099Lys)
c.6211G>A (p.Glu2071Lys)
c.6181G>A (p.Glu2061Lys)
c.6133G>A (p.Glu2045Lys)
c.6094G>A (p.Glu2032Lys)
c.6019G>A (p.Glu2007Lys)
n.6640G>A
c.6208G>A (p.Glu2070Lys)
c.6178G>A (p.Glu2060Lys)
c.6130G>A (p.Glu2044Lys)
c.6097G>A (p.Glu2033Lys)
c.6067G>A (p.Glu2023Lys)
c.6064G>A (p.Glu2022Lys)
c.6016G>A (p.Glu2006Lys)
c.5980G>A (p.Glu1994Lys)
c.5977G>A (p.Glu1993Lys)
c.5932G>A (p.Glu1978Lys)
n.6597G>A
 ClinVar
Xg.77574278_77574279delCA2520788446ATRXc.6297_6298del (p.Glu2100ArgfsTer3)
c.1395_1396del (p.Glu466ArgfsTer3)
c.6183_6184del (p.Glu2062ArgfsTer3)
c.*5925_*5926del (n.*5925_*5926del)
c.781_782del
n.3367_3368del
c.6294_6295del (p.Glu2099ArgfsTer3)
c.6210_6211del (p.Glu2071ArgfsTer3)
c.6180_6181del (p.Glu2061ArgfsTer3)
c.6132_6133del (p.Glu2045ArgfsTer3)
c.6093_6094del (p.Glu2032ArgfsTer3)
c.6018_6019del (p.Glu2007ArgfsTer3)
n.6639_6640del
c.6207_6208del (p.Glu2070ArgfsTer3)
c.6177_6178del (p.Glu2060ArgfsTer3)
c.6129_6130del (p.Glu2044ArgfsTer3)
c.6096_6097del (p.Glu2033ArgfsTer3)
c.6066_6067del (p.Glu2023ArgfsTer3)
c.6063_6064del (p.Glu2022ArgfsTer3)
c.6015_6016del (p.Glu2006ArgfsTer3)
c.5979_5980del (p.Glu1994ArgfsTer3)
c.5976_5977del (p.Glu1993ArgfsTer3)
c.5931_5932del (p.Glu1978ArgfsTer3)
n.6596_6597del
Xg.77574279A=CA2438951393ATRXc.6297T= (p.Ala2099=)
c.1395T= (p.Ala465=)
c.6183T= (p.Ala2061=)
c.*5925T= (n.*5925T=)
c.781T=
n.3367T=
c.6294T= (p.Ala2098=)
c.6210T= (p.Ala2070=)
c.6180T= (p.Ala2060=)
c.6132T= (p.Ala2044=)
c.6093T= (p.Ala2031=)
c.6018T= (p.Ala2006=)
n.6639T=
c.6207T= (p.Ala2069=)
c.6177T= (p.Ala2059=)
c.6129T= (p.Ala2043=)
c.6096T= (p.Ala2032=)
c.6066T= (p.Ala2022=)
c.6063T= (p.Ala2021=)
c.6015T= (p.Ala2005=)
c.5979T= (p.Ala1993=)
c.5976T= (p.Ala1992=)
c.5931T= (p.Ala1977=)
n.6596T=
Xg.77574279A>CCA517374761ATRXc.6297T>G (p.Ala2099=)
c.1395T>G (p.Ala465=)
c.6183T>G (p.Ala2061=)
c.*5925T>G (n.*5925T>G)
c.781T>G
n.3367T>G
c.6294T>G (p.Ala2098=)
c.6210T>G (p.Ala2070=)
c.6180T>G (p.Ala2060=)
c.6132T>G (p.Ala2044=)
c.6093T>G (p.Ala2031=)
c.6018T>G (p.Ala2006=)
n.6639T>G
c.6207T>G (p.Ala2069=)
c.6177T>G (p.Ala2059=)
c.6129T>G (p.Ala2043=)
c.6096T>G (p.Ala2032=)
c.6066T>G (p.Ala2022=)
c.6063T>G (p.Ala2021=)
c.6015T>G (p.Ala2005=)
c.5979T>G (p.Ala1993=)
c.5976T>G (p.Ala1992=)
c.5931T>G (p.Ala1977=)
n.6596T>G
Xg.77574279A>GCA517374762ATRXc.6297T>C (p.Ala2099=)
c.1395T>C (p.Ala465=)
c.6183T>C (p.Ala2061=)
c.*5925T>C (n.*5925T>C)
c.781T>C
n.3367T>C
c.6294T>C (p.Ala2098=)
c.6210T>C (p.Ala2070=)
c.6180T>C (p.Ala2060=)
c.6132T>C (p.Ala2044=)
c.6093T>C (p.Ala2031=)
c.6018T>C (p.Ala2006=)
n.6639T>C
c.6207T>C (p.Ala2069=)
c.6177T>C (p.Ala2059=)
c.6129T>C (p.Ala2043=)
c.6096T>C (p.Ala2032=)
c.6066T>C (p.Ala2022=)
c.6063T>C (p.Ala2021=)
c.6015T>C (p.Ala2005=)
c.5979T>C (p.Ala1993=)
c.5976T>C (p.Ala1992=)
c.5931T>C (p.Ala1977=)
n.6596T>C
Xg.77574279A>TCA517374763ATRXc.6297T>A (p.Ala2099=)
c.1395T>A (p.Ala465=)
c.6183T>A (p.Ala2061=)
c.*5925T>A (n.*5925T>A)
c.781T>A
n.3367T>A
c.6294T>A (p.Ala2098=)
c.6210T>A (p.Ala2070=)
c.6180T>A (p.Ala2060=)
c.6132T>A (p.Ala2044=)
c.6093T>A (p.Ala2031=)
c.6018T>A (p.Ala2006=)
n.6639T>A
c.6207T>A (p.Ala2069=)
c.6177T>A (p.Ala2059=)
c.6129T>A (p.Ala2043=)
c.6096T>A (p.Ala2032=)
c.6066T>A (p.Ala2022=)
c.6063T>A (p.Ala2021=)
c.6015T>A (p.Ala2005=)
c.5979T>A (p.Ala1993=)
c.5976T>A (p.Ala1992=)
c.5931T>A (p.Ala1977=)
n.6596T>A
 dbSNP gnomAD v2
Xg.77574280G>ACA413700958ATRXc.6296C>T (p.Ala2099Val)
c.1394C>T (p.Ala465Val)
c.6182C>T (p.Ala2061Val)
c.*5924C>T (n.*5924C>T)
c.780C>T
n.3366C>T
c.6293C>T (p.Ala2098Val)
c.6209C>T (p.Ala2070Val)
c.6179C>T (p.Ala2060Val)
c.6131C>T (p.Ala2044Val)
c.6092C>T (p.Ala2031Val)
c.6017C>T (p.Ala2006Val)
n.6638C>T
c.6206C>T (p.Ala2069Val)
c.6176C>T (p.Ala2059Val)
c.6128C>T (p.Ala2043Val)
c.6095C>T (p.Ala2032Val)
c.6065C>T (p.Ala2022Val)
c.6062C>T (p.Ala2021Val)
c.6014C>T (p.Ala2005Val)
c.5978C>T (p.Ala1993Val)
c.5975C>T (p.Ala1992Val)
c.5930C>T (p.Ala1977Val)
n.6595C>T
Xg.77574280G>CCA413700960ATRXc.6296C>G (p.Ala2099Gly)
c.1394C>G (p.Ala465Gly)
c.6182C>G (p.Ala2061Gly)
c.*5924C>G (n.*5924C>G)
c.780C>G
n.3366C>G
c.6293C>G (p.Ala2098Gly)
c.6209C>G (p.Ala2070Gly)
c.6179C>G (p.Ala2060Gly)
c.6131C>G (p.Ala2044Gly)
c.6092C>G (p.Ala2031Gly)
c.6017C>G (p.Ala2006Gly)
n.6638C>G
c.6206C>G (p.Ala2069Gly)
c.6176C>G (p.Ala2059Gly)
c.6128C>G (p.Ala2043Gly)
c.6095C>G (p.Ala2032Gly)
c.6065C>G (p.Ala2022Gly)
c.6062C>G (p.Ala2021Gly)
c.6014C>G (p.Ala2005Gly)
c.5978C>G (p.Ala1993Gly)
c.5975C>G (p.Ala1992Gly)
c.5930C>G (p.Ala1977Gly)
n.6595C>G
Xg.77574280G>TCA413700961ATRXc.6296C>A (p.Ala2099Asp)
c.1394C>A (p.Ala465Asp)
c.6182C>A (p.Ala2061Asp)
c.*5924C>A (n.*5924C>A)
c.780C>A
n.3366C>A
c.6293C>A (p.Ala2098Asp)
c.6209C>A (p.Ala2070Asp)
c.6179C>A (p.Ala2060Asp)
c.6131C>A (p.Ala2044Asp)
c.6092C>A (p.Ala2031Asp)
c.6017C>A (p.Ala2006Asp)
n.6638C>A
c.6206C>A (p.Ala2069Asp)
c.6176C>A (p.Ala2059Asp)
c.6128C>A (p.Ala2043Asp)
c.6095C>A (p.Ala2032Asp)
c.6065C>A (p.Ala2022Asp)
c.6062C>A (p.Ala2021Asp)
c.6014C>A (p.Ala2005Asp)
c.5978C>A (p.Ala1993Asp)
c.5975C>A (p.Ala1992Asp)
c.5930C>A (p.Ala1977Asp)
n.6595C>A
Xg.77574281C>ACA413700962ATRXc.6295G>T (p.Ala2099Ser)
c.1393G>T (p.Ala465Ser)
c.6181G>T (p.Ala2061Ser)
c.*5923G>T (n.*5923G>T)
c.779G>T
n.3365G>T
c.6292G>T (p.Ala2098Ser)
c.6208G>T (p.Ala2070Ser)
c.6178G>T (p.Ala2060Ser)
c.6130G>T (p.Ala2044Ser)
c.6091G>T (p.Ala2031Ser)
c.6016G>T (p.Ala2006Ser)
n.6637G>T
c.6205G>T (p.Ala2069Ser)
c.6175G>T (p.Ala2059Ser)
c.6127G>T (p.Ala2043Ser)
c.6094G>T (p.Ala2032Ser)
c.6064G>T (p.Ala2022Ser)
c.6061G>T (p.Ala2021Ser)
c.6013G>T (p.Ala2005Ser)
c.5977G>T (p.Ala1993Ser)
c.5974G>T (p.Ala1992Ser)
c.5929G>T (p.Ala1977Ser)
n.6594G>T
Xg.77574281C>GCA413700963ATRXc.6295G>C (p.Ala2099Pro)
c.1393G>C (p.Ala465Pro)
c.6181G>C (p.Ala2061Pro)
c.*5923G>C (n.*5923G>C)
c.779G>C
n.3365G>C
c.6292G>C (p.Ala2098Pro)
c.6208G>C (p.Ala2070Pro)
c.6178G>C (p.Ala2060Pro)
c.6130G>C (p.Ala2044Pro)
c.6091G>C (p.Ala2031Pro)
c.6016G>C (p.Ala2006Pro)
n.6637G>C
c.6205G>C (p.Ala2069Pro)
c.6175G>C (p.Ala2059Pro)
c.6127G>C (p.Ala2043Pro)
c.6094G>C (p.Ala2032Pro)
c.6064G>C (p.Ala2022Pro)
c.6061G>C (p.Ala2021Pro)
c.6013G>C (p.Ala2005Pro)
c.5977G>C (p.Ala1993Pro)
c.5974G>C (p.Ala1992Pro)
c.5929G>C (p.Ala1977Pro)
n.6594G>C
Xg.77574281C>TCA413700965ATRXc.6295G>A (p.Ala2099Thr)
c.1393G>A (p.Ala465Thr)
c.6181G>A (p.Ala2061Thr)
c.*5923G>A (n.*5923G>A)
c.779G>A
n.3365G>A
c.6292G>A (p.Ala2098Thr)
c.6208G>A (p.Ala2070Thr)
c.6178G>A (p.Ala2060Thr)
c.6130G>A (p.Ala2044Thr)
c.6091G>A (p.Ala2031Thr)
c.6016G>A (p.Ala2006Thr)
n.6637G>A
c.6205G>A (p.Ala2069Thr)
c.6175G>A (p.Ala2059Thr)
c.6127G>A (p.Ala2043Thr)
c.6094G>A (p.Ala2032Thr)
c.6064G>A (p.Ala2022Thr)
c.6061G>A (p.Ala2021Thr)
c.6013G>A (p.Ala2005Thr)
c.5977G>A (p.Ala1993Thr)
c.5974G>A (p.Ala1992Thr)
c.5929G>A (p.Ala1977Thr)
n.6594G>A
Xg.77574283delCA2579648813ATRXc.6295del (p.Ala2099LeufsTer10)
c.1393del (p.Ala465LeufsTer10)
c.6181del (p.Ala2061LeufsTer10)
c.*5923del (n.*5923del)
c.779del
n.3365del
c.6292del (p.Ala2098LeufsTer10)
c.6208del (p.Ala2070LeufsTer10)
c.6178del (p.Ala2060LeufsTer10)
c.6130del (p.Ala2044LeufsTer10)
c.6091del (p.Ala2031LeufsTer10)
c.6016del (p.Ala2006LeufsTer10)
n.6637del
c.6205del (p.Ala2069LeufsTer10)
c.6175del (p.Ala2059LeufsTer10)
c.6127del (p.Ala2043LeufsTer10)
c.6094del (p.Ala2032LeufsTer10)
c.6064del (p.Ala2022LeufsTer10)
c.6061del (p.Ala2021LeufsTer10)
c.6013del (p.Ala2005LeufsTer10)
c.5977del (p.Ala1993LeufsTer10)
c.5974del (p.Ala1992LeufsTer10)
c.5929del (p.Ala1977LeufsTer10)
n.6594del
Xg.77574281_77574286delCA2508486568ATRXc.6290_6295del (p.Lys2097_Ala2099delinsThr)
c.1388_1393del (p.Lys463_Ala465delinsThr)
c.6176_6181del (p.Lys2059_Ala2061delinsThr)
c.*5918_*5923del (n.*5918_*5923del)
c.774_779del
n.3360_3365del
c.6287_6292del (p.Lys2096_Ala2098delinsThr)
c.6203_6208del (p.Lys2068_Ala2070delinsThr)
c.6173_6178del (p.Lys2058_Ala2060delinsThr)
c.6125_6130del (p.Lys2042_Ala2044delinsThr)
c.6086_6091del (p.Lys2029_Ala2031delinsThr)
c.6011_6016del (p.Lys2004_Ala2006delinsThr)
n.6632_6637del
c.6200_6205del (p.Lys2067_Ala2069delinsThr)
c.6170_6175del (p.Lys2057_Ala2059delinsThr)
c.6122_6127del (p.Lys2041_Ala2043delinsThr)
c.6089_6094del (p.Lys2030_Ala2032delinsThr)
c.6059_6064del (p.Lys2020_Ala2022delinsThr)
c.6056_6061del (p.Lys2019_Ala2021delinsThr)
c.6008_6013del (p.Lys2003_Ala2005delinsThr)
c.5972_5977del (p.Lys1991_Ala1993delinsThr)
c.5969_5974del (p.Lys1990_Ala1992delinsThr)
c.5924_5929del (p.Lys1975_Ala1977delinsThr)
n.6589_6594del
Xg.77574282C>ACA413700967ATRXc.6294G>T (p.Trp2098Cys)
c.1392G>T (p.Trp464Cys)
c.6180G>T (p.Trp2060Cys)
c.*5922G>T (n.*5922G>T)
c.778G>T
n.3364G>T
c.6291G>T (p.Trp2097Cys)
c.6207G>T (p.Trp2069Cys)
c.6177G>T (p.Trp2059Cys)
c.6129G>T (p.Trp2043Cys)
c.6090G>T (p.Trp2030Cys)
c.6015G>T (p.Trp2005Cys)
n.6636G>T
c.6204G>T (p.Trp2068Cys)
c.6174G>T (p.Trp2058Cys)
c.6126G>T (p.Trp2042Cys)
c.6093G>T (p.Trp2031Cys)
c.6063G>T (p.Trp2021Cys)
c.6060G>T (p.Trp2020Cys)
c.6012G>T (p.Trp2004Cys)
c.5976G>T (p.Trp1992Cys)
c.5973G>T (p.Trp1991Cys)
c.5928G>T (p.Trp1976Cys)
n.6593G>T
Xg.77574282C>GCA413700971ATRXc.6294G>C (p.Trp2098Cys)
c.1392G>C (p.Trp464Cys)
c.6180G>C (p.Trp2060Cys)
c.*5922G>C (n.*5922G>C)
c.778G>C
n.3364G>C
c.6291G>C (p.Trp2097Cys)
c.6207G>C (p.Trp2069Cys)
c.6177G>C (p.Trp2059Cys)
c.6129G>C (p.Trp2043Cys)
c.6090G>C (p.Trp2030Cys)
c.6015G>C (p.Trp2005Cys)
n.6636G>C
c.6204G>C (p.Trp2068Cys)
c.6174G>C (p.Trp2058Cys)
c.6126G>C (p.Trp2042Cys)
c.6093G>C (p.Trp2031Cys)
c.6063G>C (p.Trp2021Cys)
c.6060G>C (p.Trp2020Cys)
c.6012G>C (p.Trp2004Cys)
c.5976G>C (p.Trp1992Cys)
c.5973G>C (p.Trp1991Cys)
c.5928G>C (p.Trp1976Cys)
n.6593G>C
Xg.77574282C>TCA413700969ATRXc.6294G>A (p.Trp2098Ter)
c.1392G>A (p.Trp464Ter)
c.6180G>A (p.Trp2060Ter)
c.*5922G>A (n.*5922G>A)
c.778G>A
n.3364G>A
c.6291G>A (p.Trp2097Ter)
c.6207G>A (p.Trp2069Ter)
c.6177G>A (p.Trp2059Ter)
c.6129G>A (p.Trp2043Ter)
c.6090G>A (p.Trp2030Ter)
c.6015G>A (p.Trp2005Ter)
n.6636G>A
c.6204G>A (p.Trp2068Ter)
c.6174G>A (p.Trp2058Ter)
c.6126G>A (p.Trp2042Ter)
c.6093G>A (p.Trp2031Ter)
c.6063G>A (p.Trp2021Ter)
c.6060G>A (p.Trp2020Ter)
c.6012G>A (p.Trp2004Ter)
c.5976G>A (p.Trp1992Ter)
c.5973G>A (p.Trp1991Ter)
c.5928G>A (p.Trp1976Ter)
n.6593G>A
Xg.77574283C>ACA413700973ATRXc.6293G>T (p.Trp2098Leu)
c.1391G>T (p.Trp464Leu)
c.6179G>T (p.Trp2060Leu)
c.*5921G>T (n.*5921G>T)
c.777G>T
n.3363G>T
c.6290G>T (p.Trp2097Leu)
c.6206G>T (p.Trp2069Leu)
c.6176G>T (p.Trp2059Leu)
c.6128G>T (p.Trp2043Leu)
c.6089G>T (p.Trp2030Leu)
c.6014G>T (p.Trp2005Leu)
n.6635G>T
c.6203G>T (p.Trp2068Leu)
c.6173G>T (p.Trp2058Leu)
c.6125G>T (p.Trp2042Leu)
c.6092G>T (p.Trp2031Leu)
c.6062G>T (p.Trp2021Leu)
c.6059G>T (p.Trp2020Leu)
c.6011G>T (p.Trp2004Leu)
c.5975G>T (p.Trp1992Leu)
c.5972G>T (p.Trp1991Leu)
c.5927G>T (p.Trp1976Leu)
n.6592G>T
Xg.77574283C>GCA413700975ATRXc.6293G>C (p.Trp2098Ser)
c.1391G>C (p.Trp464Ser)
c.6179G>C (p.Trp2060Ser)
c.*5921G>C (n.*5921G>C)
c.777G>C
n.3363G>C
c.6290G>C (p.Trp2097Ser)
c.6206G>C (p.Trp2069Ser)
c.6176G>C (p.Trp2059Ser)
c.6128G>C (p.Trp2043Ser)
c.6089G>C (p.Trp2030Ser)
c.6014G>C (p.Trp2005Ser)
n.6635G>C
c.6203G>C (p.Trp2068Ser)
c.6173G>C (p.Trp2058Ser)
c.6125G>C (p.Trp2042Ser)
c.6092G>C (p.Trp2031Ser)
c.6062G>C (p.Trp2021Ser)
c.6059G>C (p.Trp2020Ser)
c.6011G>C (p.Trp2004Ser)
c.5975G>C (p.Trp1992Ser)
c.5972G>C (p.Trp1991Ser)
c.5927G>C (p.Trp1976Ser)
n.6592G>C
Xg.77574283C>TCA413700977ATRXc.6293G>A (p.Trp2098Ter)
c.1391G>A (p.Trp464Ter)
c.6179G>A (p.Trp2060Ter)
c.*5921G>A (n.*5921G>A)
c.777G>A
n.3363G>A
c.6290G>A (p.Trp2097Ter)
c.6206G>A (p.Trp2069Ter)
c.6176G>A (p.Trp2059Ter)
c.6128G>A (p.Trp2043Ter)
c.6089G>A (p.Trp2030Ter)
c.6014G>A (p.Trp2005Ter)
n.6635G>A
c.6203G>A (p.Trp2068Ter)
c.6173G>A (p.Trp2058Ter)
c.6125G>A (p.Trp2042Ter)
c.6092G>A (p.Trp2031Ter)
c.6062G>A (p.Trp2021Ter)
c.6059G>A (p.Trp2020Ter)
c.6011G>A (p.Trp2004Ter)
c.5975G>A (p.Trp1992Ter)
c.5972G>A (p.Trp1991Ter)
c.5927G>A (p.Trp1976Ter)
n.6592G>A
 gnomAD v4
Xg.77574284A>CCA413700979ATRXc.6292T>G (p.Trp2098Gly)
c.1390T>G (p.Trp464Gly)
c.6178T>G (p.Trp2060Gly)
c.*5920T>G (n.*5920T>G)
c.776T>G
n.3362T>G
c.6289T>G (p.Trp2097Gly)
c.6205T>G (p.Trp2069Gly)
c.6175T>G (p.Trp2059Gly)
c.6127T>G (p.Trp2043Gly)
c.6088T>G (p.Trp2030Gly)
c.6013T>G (p.Trp2005Gly)
n.6634T>G
c.6202T>G (p.Trp2068Gly)
c.6172T>G (p.Trp2058Gly)
c.6124T>G (p.Trp2042Gly)
c.6091T>G (p.Trp2031Gly)
c.6061T>G (p.Trp2021Gly)
c.6058T>G (p.Trp2020Gly)
c.6010T>G (p.Trp2004Gly)
c.5974T>G (p.Trp1992Gly)
c.5971T>G (p.Trp1991Gly)
c.5926T>G (p.Trp1976Gly)
n.6591T>G
Xg.77574284A>GCA413700981ATRXc.6292T>C (p.Trp2098Arg)
c.1390T>C (p.Trp464Arg)
c.6178T>C (p.Trp2060Arg)
c.*5920T>C (n.*5920T>C)
c.776T>C
n.3362T>C
c.6289T>C (p.Trp2097Arg)
c.6205T>C (p.Trp2069Arg)
c.6175T>C (p.Trp2059Arg)
c.6127T>C (p.Trp2043Arg)
c.6088T>C (p.Trp2030Arg)
c.6013T>C (p.Trp2005Arg)
n.6634T>C
c.6202T>C (p.Trp2068Arg)
c.6172T>C (p.Trp2058Arg)
c.6124T>C (p.Trp2042Arg)
c.6091T>C (p.Trp2031Arg)
c.6061T>C (p.Trp2021Arg)
c.6058T>C (p.Trp2020Arg)
c.6010T>C (p.Trp2004Arg)
c.5974T>C (p.Trp1992Arg)
c.5971T>C (p.Trp1991Arg)
c.5926T>C (p.Trp1976Arg)
n.6591T>C
Xg.77574284A>TCA413700983ATRXc.6292T>A (p.Trp2098Arg)
c.1390T>A (p.Trp464Arg)
c.6178T>A (p.Trp2060Arg)
c.*5920T>A (n.*5920T>A)
c.776T>A
n.3362T>A
c.6289T>A (p.Trp2097Arg)
c.6205T>A (p.Trp2069Arg)
c.6175T>A (p.Trp2059Arg)
c.6127T>A (p.Trp2043Arg)
c.6088T>A (p.Trp2030Arg)
c.6013T>A (p.Trp2005Arg)
n.6634T>A
c.6202T>A (p.Trp2068Arg)
c.6172T>A (p.Trp2058Arg)
c.6124T>A (p.Trp2042Arg)
c.6091T>A (p.Trp2031Arg)
c.6061T>A (p.Trp2021Arg)
c.6058T>A (p.Trp2020Arg)
c.6010T>A (p.Trp2004Arg)
c.5974T>A (p.Trp1992Arg)
c.5971T>A (p.Trp1991Arg)
c.5926T>A (p.Trp1976Arg)
n.6591T>A
Xg.77574285C>ACA413700985ATRXc.6291G>T (p.Lys2097Asn)
c.1389G>T (p.Lys463Asn)
c.6177G>T (p.Lys2059Asn)
c.*5919G>T (n.*5919G>T)
c.775G>T
n.3361G>T
c.6288G>T (p.Lys2096Asn)
c.6204G>T (p.Lys2068Asn)
c.6174G>T (p.Lys2058Asn)
c.6126G>T (p.Lys2042Asn)
c.6087G>T (p.Lys2029Asn)
c.6012G>T (p.Lys2004Asn)
n.6633G>T
c.6201G>T (p.Lys2067Asn)
c.6171G>T (p.Lys2057Asn)
c.6123G>T (p.Lys2041Asn)
c.6090G>T (p.Lys2030Asn)
c.6060G>T (p.Lys2020Asn)
c.6057G>T (p.Lys2019Asn)
c.6009G>T (p.Lys2003Asn)
c.5973G>T (p.Lys1991Asn)
c.5970G>T (p.Lys1990Asn)
c.5925G>T (p.Lys1975Asn)
n.6590G>T
Xg.77574285C=CA2438951394ATRXc.6291G= (p.Lys2097=)
c.1389G= (p.Lys463=)
c.6177G= (p.Lys2059=)
c.*5919G= (n.*5919G=)
c.775G=
n.3361G=
c.6288G= (p.Lys2096=)
c.6204G= (p.Lys2068=)
c.6174G= (p.Lys2058=)
c.6126G= (p.Lys2042=)
c.6087G= (p.Lys2029=)
c.6012G= (p.Lys2004=)
n.6633G=
c.6201G= (p.Lys2067=)
c.6171G= (p.Lys2057=)
c.6123G= (p.Lys2041=)
c.6090G= (p.Lys2030=)
c.6060G= (p.Lys2020=)
c.6057G= (p.Lys2019=)
c.6009G= (p.Lys2003=)
c.5973G= (p.Lys1991=)
c.5970G= (p.Lys1990=)
c.5925G= (p.Lys1975=)
n.6590G=
Xg.77574285C>GCA413700987ATRXc.6291G>C (p.Lys2097Asn)
c.1389G>C (p.Lys463Asn)
c.6177G>C (p.Lys2059Asn)
c.*5919G>C (n.*5919G>C)
c.775G>C
n.3361G>C
c.6288G>C (p.Lys2096Asn)
c.6204G>C (p.Lys2068Asn)
c.6174G>C (p.Lys2058Asn)
c.6126G>C (p.Lys2042Asn)
c.6087G>C (p.Lys2029Asn)
c.6012G>C (p.Lys2004Asn)
n.6633G>C
c.6201G>C (p.Lys2067Asn)
c.6171G>C (p.Lys2057Asn)
c.6123G>C (p.Lys2041Asn)
c.6090G>C (p.Lys2030Asn)
c.6060G>C (p.Lys2020Asn)
c.6057G>C (p.Lys2019Asn)
c.6009G>C (p.Lys2003Asn)
c.5973G>C (p.Lys1991Asn)
c.5970G>C (p.Lys1990Asn)
c.5925G>C (p.Lys1975Asn)
n.6590G>C
 dbSNP
Xg.77574285C>TCA517374764ATRXc.6291G>A (p.Lys2097=)
c.1389G>A (p.Lys463=)
c.6177G>A (p.Lys2059=)
c.*5919G>A (n.*5919G>A)
c.775G>A
n.3361G>A
c.6288G>A (p.Lys2096=)
c.6204G>A (p.Lys2068=)
c.6174G>A (p.Lys2058=)
c.6126G>A (p.Lys2042=)
c.6087G>A (p.Lys2029=)
c.6012G>A (p.Lys2004=)
n.6633G>A
c.6201G>A (p.Lys2067=)
c.6171G>A (p.Lys2057=)
c.6123G>A (p.Lys2041=)
c.6090G>A (p.Lys2030=)
c.6060G>A (p.Lys2020=)
c.6057G>A (p.Lys2019=)
c.6009G>A (p.Lys2003=)
c.5973G>A (p.Lys1991=)
c.5970G>A (p.Lys1990=)
c.5925G>A (p.Lys1975=)
n.6590G>A
Xg.77574286T>ACA413700989ATRXc.6290A>T (p.Lys2097Met)
c.1388A>T (p.Lys463Met)
c.6176A>T (p.Lys2059Met)
c.*5918A>T (n.*5918A>T)
c.774A>T
n.3360A>T
c.6287A>T (p.Lys2096Met)
c.6203A>T (p.Lys2068Met)
c.6173A>T (p.Lys2058Met)
c.6125A>T (p.Lys2042Met)
c.6086A>T (p.Lys2029Met)
c.6011A>T (p.Lys2004Met)
n.6632A>T
c.6200A>T (p.Lys2067Met)
c.6170A>T (p.Lys2057Met)
c.6122A>T (p.Lys2041Met)
c.6089A>T (p.Lys2030Met)
c.6059A>T (p.Lys2020Met)
c.6056A>T (p.Lys2019Met)
c.6008A>T (p.Lys2003Met)
c.5972A>T (p.Lys1991Met)
c.5969A>T (p.Lys1990Met)
c.5924A>T (p.Lys1975Met)
n.6589A>T
Xg.77574286T>CCA413700991ATRXc.6290A>G (p.Lys2097Arg)
c.1388A>G (p.Lys463Arg)
c.6176A>G (p.Lys2059Arg)
c.*5918A>G (n.*5918A>G)
c.774A>G
n.3360A>G
c.6287A>G (p.Lys2096Arg)
c.6203A>G (p.Lys2068Arg)
c.6173A>G (p.Lys2058Arg)
c.6125A>G (p.Lys2042Arg)
c.6086A>G (p.Lys2029Arg)
c.6011A>G (p.Lys2004Arg)
n.6632A>G
c.6200A>G (p.Lys2067Arg)
c.6170A>G (p.Lys2057Arg)
c.6122A>G (p.Lys2041Arg)
c.6089A>G (p.Lys2030Arg)
c.6059A>G (p.Lys2020Arg)
c.6056A>G (p.Lys2019Arg)
c.6008A>G (p.Lys2003Arg)
c.5972A>G (p.Lys1991Arg)
c.5969A>G (p.Lys1990Arg)
c.5924A>G (p.Lys1975Arg)
n.6589A>G
Xg.77574286T>GCA413700993ATRXc.6290A>C (p.Lys2097Thr)
c.1388A>C (p.Lys463Thr)
c.6176A>C (p.Lys2059Thr)
c.*5918A>C (n.*5918A>C)
c.774A>C
n.3360A>C
c.6287A>C (p.Lys2096Thr)
c.6203A>C (p.Lys2068Thr)
c.6173A>C (p.Lys2058Thr)
c.6125A>C (p.Lys2042Thr)
c.6086A>C (p.Lys2029Thr)
c.6011A>C (p.Lys2004Thr)
n.6632A>C
c.6200A>C (p.Lys2067Thr)
c.6170A>C (p.Lys2057Thr)
c.6122A>C (p.Lys2041Thr)
c.6089A>C (p.Lys2030Thr)
c.6059A>C (p.Lys2020Thr)
c.6056A>C (p.Lys2019Thr)
c.6008A>C (p.Lys2003Thr)
c.5972A>C (p.Lys1991Thr)
c.5969A>C (p.Lys1990Thr)
c.5924A>C (p.Lys1975Thr)
n.6589A>C
Xg.77574287T>ACA413700996ATRXc.6289A>T (p.Lys2097Ter)
c.1387A>T (p.Lys463Ter)
c.6175A>T (p.Lys2059Ter)
c.*5917A>T (n.*5917A>T)
c.773A>T
n.3359A>T
c.6286A>T (p.Lys2096Ter)
c.6202A>T (p.Lys2068Ter)
c.6172A>T (p.Lys2058Ter)
c.6124A>T (p.Lys2042Ter)
c.6085A>T (p.Lys2029Ter)
c.6010A>T (p.Lys2004Ter)
n.6631A>T
c.6199A>T (p.Lys2067Ter)
c.6169A>T (p.Lys2057Ter)
c.6121A>T (p.Lys2041Ter)
c.6088A>T (p.Lys2030Ter)
c.6058A>T (p.Lys2020Ter)
c.6055A>T (p.Lys2019Ter)
c.6007A>T (p.Lys2003Ter)
c.5971A>T (p.Lys1991Ter)
c.5968A>T (p.Lys1990Ter)
c.5923A>T (p.Lys1975Ter)
n.6588A>T
Xg.77574287T>CCA413701007ATRXc.6289A>G (p.Lys2097Glu)
c.1387A>G (p.Lys463Glu)
c.6175A>G (p.Lys2059Glu)
c.*5917A>G (n.*5917A>G)
c.773A>G
n.3359A>G
c.6286A>G (p.Lys2096Glu)
c.6202A>G (p.Lys2068Glu)
c.6172A>G (p.Lys2058Glu)
c.6124A>G (p.Lys2042Glu)
c.6085A>G (p.Lys2029Glu)
c.6010A>G (p.Lys2004Glu)
n.6631A>G
c.6199A>G (p.Lys2067Glu)
c.6169A>G (p.Lys2057Glu)
c.6121A>G (p.Lys2041Glu)
c.6088A>G (p.Lys2030Glu)
c.6058A>G (p.Lys2020Glu)
c.6055A>G (p.Lys2019Glu)
c.6007A>G (p.Lys2003Glu)
c.5971A>G (p.Lys1991Glu)
c.5968A>G (p.Lys1990Glu)
c.5923A>G (p.Lys1975Glu)
n.6588A>G
Xg.77574287T>GCA413700995ATRXc.6289A>C (p.Lys2097Gln)
c.1387A>C (p.Lys463Gln)
c.6175A>C (p.Lys2059Gln)
c.*5917A>C (n.*5917A>C)
c.773A>C
n.3359A>C
c.6286A>C (p.Lys2096Gln)
c.6202A>C (p.Lys2068Gln)
c.6172A>C (p.Lys2058Gln)
c.6124A>C (p.Lys2042Gln)
c.6085A>C (p.Lys2029Gln)
c.6010A>C (p.Lys2004Gln)
n.6631A>C
c.6199A>C (p.Lys2067Gln)
c.6169A>C (p.Lys2057Gln)
c.6121A>C (p.Lys2041Gln)
c.6088A>C (p.Lys2030Gln)
c.6058A>C (p.Lys2020Gln)
c.6055A>C (p.Lys2019Gln)
c.6007A>C (p.Lys2003Gln)
c.5971A>C (p.Lys1991Gln)
c.5968A>C (p.Lys1990Gln)
c.5923A>C (p.Lys1975Gln)
n.6588A>C
Xg.77574288C>ACA413701011ATRXc.6288G>T (p.Lys2096Asn)
c.1386G>T (p.Lys462Asn)
c.6174G>T (p.Lys2058Asn)
c.*5916G>T (n.*5916G>T)
c.772G>T
n.3358G>T
c.6285G>T (p.Lys2095Asn)
c.6201G>T (p.Lys2067Asn)
c.6171G>T (p.Lys2057Asn)
c.6123G>T (p.Lys2041Asn)
c.6084G>T (p.Lys2028Asn)
c.6009G>T (p.Lys2003Asn)
n.6630G>T
c.6198G>T (p.Lys2066Asn)
c.6168G>T (p.Lys2056Asn)
c.6120G>T (p.Lys2040Asn)
c.6087G>T (p.Lys2029Asn)
c.6057G>T (p.Lys2019Asn)
c.6054G>T (p.Lys2018Asn)
c.6006G>T (p.Lys2002Asn)
c.5970G>T (p.Lys1990Asn)
c.5967G>T (p.Lys1989Asn)
c.5922G>T (p.Lys1974Asn)
n.6587G>T
 COSMIC COSMIC
Xg.77574288C>GCA413701010ATRXc.6288G>C (p.Lys2096Asn)
c.1386G>C (p.Lys462Asn)
c.6174G>C (p.Lys2058Asn)
c.*5916G>C (n.*5916G>C)
c.772G>C
n.3358G>C
c.6285G>C (p.Lys2095Asn)
c.6201G>C (p.Lys2067Asn)
c.6171G>C (p.Lys2057Asn)
c.6123G>C (p.Lys2041Asn)
c.6084G>C (p.Lys2028Asn)
c.6009G>C (p.Lys2003Asn)
n.6630G>C
c.6198G>C (p.Lys2066Asn)
c.6168G>C (p.Lys2056Asn)
c.6120G>C (p.Lys2040Asn)
c.6087G>C (p.Lys2029Asn)
c.6057G>C (p.Lys2019Asn)
c.6054G>C (p.Lys2018Asn)
c.6006G>C (p.Lys2002Asn)
c.5970G>C (p.Lys1990Asn)
c.5967G>C (p.Lys1989Asn)
c.5922G>C (p.Lys1974Asn)
n.6587G>C
Xg.77574288C>TCA517374765ATRXc.6288G>A (p.Lys2096=)
c.1386G>A (p.Lys462=)
c.6174G>A (p.Lys2058=)
c.*5916G>A (n.*5916G>A)
c.772G>A
n.3358G>A
c.6285G>A (p.Lys2095=)
c.6201G>A (p.Lys2067=)
c.6171G>A (p.Lys2057=)
c.6123G>A (p.Lys2041=)
c.6084G>A (p.Lys2028=)
c.6009G>A (p.Lys2003=)
n.6630G>A
c.6198G>A (p.Lys2066=)
c.6168G>A (p.Lys2056=)
c.6120G>A (p.Lys2040=)
c.6087G>A (p.Lys2029=)
c.6057G>A (p.Lys2019=)
c.6054G>A (p.Lys2018=)
c.6006G>A (p.Lys2002=)
c.5970G>A (p.Lys1990=)
c.5967G>A (p.Lys1989=)
c.5922G>A (p.Lys1974=)
n.6587G>A
Xg.77574289T>ACA413701015ATRXc.6287A>T (p.Lys2096Met)
c.1385A>T (p.Lys462Met)
c.6173A>T (p.Lys2058Met)
c.*5915A>T (n.*5915A>T)
c.771A>T
n.3357A>T
c.6284A>T (p.Lys2095Met)
c.6200A>T (p.Lys2067Met)
c.6170A>T (p.Lys2057Met)
c.6122A>T (p.Lys2041Met)
c.6083A>T (p.Lys2028Met)
c.6008A>T (p.Lys2003Met)
n.6629A>T
c.6197A>T (p.Lys2066Met)
c.6167A>T (p.Lys2056Met)
c.6119A>T (p.Lys2040Met)
c.6086A>T (p.Lys2029Met)
c.6056A>T (p.Lys2019Met)
c.6053A>T (p.Lys2018Met)
c.6005A>T (p.Lys2002Met)
c.5969A>T (p.Lys1990Met)
c.5966A>T (p.Lys1989Met)
c.5921A>T (p.Lys1974Met)
n.6586A>T
Xg.77574289T>CCA413701016ATRXc.6287A>G (p.Lys2096Arg)
c.1385A>G (p.Lys462Arg)
c.6173A>G (p.Lys2058Arg)
c.*5915A>G (n.*5915A>G)
c.771A>G
n.3357A>G
c.6284A>G (p.Lys2095Arg)
c.6200A>G (p.Lys2067Arg)
c.6170A>G (p.Lys2057Arg)
c.6122A>G (p.Lys2041Arg)
c.6083A>G (p.Lys2028Arg)
c.6008A>G (p.Lys2003Arg)
n.6629A>G
c.6197A>G (p.Lys2066Arg)
c.6167A>G (p.Lys2056Arg)
c.6119A>G (p.Lys2040Arg)
c.6086A>G (p.Lys2029Arg)
c.6056A>G (p.Lys2019Arg)
c.6053A>G (p.Lys2018Arg)
c.6005A>G (p.Lys2002Arg)
c.5969A>G (p.Lys1990Arg)
c.5966A>G (p.Lys1989Arg)
c.5921A>G (p.Lys1974Arg)
n.6586A>G
Xg.77574289T>GCA413701021ATRXc.6287A>C (p.Lys2096Thr)
c.1385A>C (p.Lys462Thr)
c.6173A>C (p.Lys2058Thr)
c.*5915A>C (n.*5915A>C)
c.771A>C
n.3357A>C
c.6284A>C (p.Lys2095Thr)
c.6200A>C (p.Lys2067Thr)
c.6170A>C (p.Lys2057Thr)
c.6122A>C (p.Lys2041Thr)
c.6083A>C (p.Lys2028Thr)
c.6008A>C (p.Lys2003Thr)
n.6629A>C
c.6197A>C (p.Lys2066Thr)
c.6167A>C (p.Lys2056Thr)
c.6119A>C (p.Lys2040Thr)
c.6086A>C (p.Lys2029Thr)
c.6056A>C (p.Lys2019Thr)
c.6053A>C (p.Lys2018Thr)
c.6005A>C (p.Lys2002Thr)
c.5969A>C (p.Lys1990Thr)
c.5966A>C (p.Lys1989Thr)
c.5921A>C (p.Lys1974Thr)
n.6586A>C
Xg.77574290T>ACA413701027ATRXc.6286A>T (p.Lys2096Ter)
c.1384A>T (p.Lys462Ter)
c.6172A>T (p.Lys2058Ter)
c.*5914A>T (n.*5914A>T)
c.770A>T
n.3356A>T
c.6283A>T (p.Lys2095Ter)
c.6199A>T (p.Lys2067Ter)
c.6169A>T (p.Lys2057Ter)
c.6121A>T (p.Lys2041Ter)
c.6082A>T (p.Lys2028Ter)
c.6007A>T (p.Lys2003Ter)
n.6628A>T
c.6196A>T (p.Lys2066Ter)
c.6166A>T (p.Lys2056Ter)
c.6118A>T (p.Lys2040Ter)
c.6085A>T (p.Lys2029Ter)
c.6055A>T (p.Lys2019Ter)
c.6052A>T (p.Lys2018Ter)
c.6004A>T (p.Lys2002Ter)
c.5968A>T (p.Lys1990Ter)
c.5965A>T (p.Lys1989Ter)
c.5920A>T (p.Lys1974Ter)
n.6585A>T
Xg.77574290T>CCA413701032ATRXc.6286A>G (p.Lys2096Glu)
c.1384A>G (p.Lys462Glu)
c.6172A>G (p.Lys2058Glu)
c.*5914A>G (n.*5914A>G)
c.770A>G
n.3356A>G
c.6283A>G (p.Lys2095Glu)
c.6199A>G (p.Lys2067Glu)
c.6169A>G (p.Lys2057Glu)
c.6121A>G (p.Lys2041Glu)
c.6082A>G (p.Lys2028Glu)
c.6007A>G (p.Lys2003Glu)
n.6628A>G
c.6196A>G (p.Lys2066Glu)
c.6166A>G (p.Lys2056Glu)
c.6118A>G (p.Lys2040Glu)
c.6085A>G (p.Lys2029Glu)
c.6055A>G (p.Lys2019Glu)
c.6052A>G (p.Lys2018Glu)
c.6004A>G (p.Lys2002Glu)
c.5968A>G (p.Lys1990Glu)
c.5965A>G (p.Lys1989Glu)
c.5920A>G (p.Lys1974Glu)
n.6585A>G
Xg.77574290T>GCA413701034ATRXc.6286A>C (p.Lys2096Gln)
c.1384A>C (p.Lys462Gln)
c.6172A>C (p.Lys2058Gln)
c.*5914A>C (n.*5914A>C)
c.770A>C
n.3356A>C
c.6283A>C (p.Lys2095Gln)
c.6199A>C (p.Lys2067Gln)
c.6169A>C (p.Lys2057Gln)
c.6121A>C (p.Lys2041Gln)
c.6082A>C (p.Lys2028Gln)
c.6007A>C (p.Lys2003Gln)
n.6628A>C
c.6196A>C (p.Lys2066Gln)
c.6166A>C (p.Lys2056Gln)
c.6118A>C (p.Lys2040Gln)
c.6085A>C (p.Lys2029Gln)
c.6055A>C (p.Lys2019Gln)
c.6052A>C (p.Lys2018Gln)
c.6004A>C (p.Lys2002Gln)
c.5968A>C (p.Lys1990Gln)
c.5965A>C (p.Lys1989Gln)
c.5920A>C (p.Lys1974Gln)
n.6585A>C
Xg.77574291C>ACA413701037ATRXc.6285G>T (p.Arg2095Ser)
c.1383G>T (p.Arg461Ser)
c.6171G>T (p.Arg2057Ser)
c.*5913G>T (n.*5913G>T)
c.769G>T
n.3355G>T
c.6282G>T (p.Arg2094Ser)
c.6198G>T (p.Arg2066Ser)
c.6168G>T (p.Arg2056Ser)
c.6120G>T (p.Arg2040Ser)
c.6081G>T (p.Arg2027Ser)
c.6006G>T (p.Arg2002Ser)
n.6627G>T
c.6195G>T (p.Arg2065Ser)
c.6165G>T (p.Arg2055Ser)
c.6117G>T (p.Arg2039Ser)
c.6084G>T (p.Arg2028Ser)
c.6054G>T (p.Arg2018Ser)
c.6051G>T (p.Arg2017Ser)
c.6003G>T (p.Arg2001Ser)
c.5967G>T (p.Arg1989Ser)
c.5964G>T (p.Arg1988Ser)
c.5919G>T (p.Arg1973Ser)
n.6584G>T
Xg.77574291C>GCA413701038ATRXc.6285G>C (p.Arg2095Ser)
c.1383G>C (p.Arg461Ser)
c.6171G>C (p.Arg2057Ser)
c.*5913G>C (n.*5913G>C)
c.769G>C
n.3355G>C
c.6282G>C (p.Arg2094Ser)
c.6198G>C (p.Arg2066Ser)
c.6168G>C (p.Arg2056Ser)
c.6120G>C (p.Arg2040Ser)
c.6081G>C (p.Arg2027Ser)
c.6006G>C (p.Arg2002Ser)
n.6627G>C
c.6195G>C (p.Arg2065Ser)
c.6165G>C (p.Arg2055Ser)
c.6117G>C (p.Arg2039Ser)
c.6084G>C (p.Arg2028Ser)
c.6054G>C (p.Arg2018Ser)
c.6051G>C (p.Arg2017Ser)
c.6003G>C (p.Arg2001Ser)
c.5967G>C (p.Arg1989Ser)
c.5964G>C (p.Arg1988Ser)
c.5919G>C (p.Arg1973Ser)
n.6584G>C
Xg.77574291C>TCA517374767ATRXc.6285G>A (p.Arg2095=)
c.1383G>A (p.Arg461=)
c.6171G>A (p.Arg2057=)
c.*5913G>A (n.*5913G>A)
c.769G>A
n.3355G>A
c.6282G>A (p.Arg2094=)
c.6198G>A (p.Arg2066=)
c.6168G>A (p.Arg2056=)
c.6120G>A (p.Arg2040=)
c.6081G>A (p.Arg2027=)
c.6006G>A (p.Arg2002=)
n.6627G>A
c.6195G>A (p.Arg2065=)
c.6165G>A (p.Arg2055=)
c.6117G>A (p.Arg2039=)
c.6084G>A (p.Arg2028=)
c.6054G>A (p.Arg2018=)
c.6051G>A (p.Arg2017=)
c.6003G>A (p.Arg2001=)
c.5967G>A (p.Arg1989=)
c.5964G>A (p.Arg1988=)
c.5919G>A (p.Arg1973=)
n.6584G>A
Xg.77574292C>ACA413701042ATRXc.6284G>T (p.Arg2095Met)
c.1382G>T (p.Arg461Met)
c.6170G>T (p.Arg2057Met)
c.*5912G>T (n.*5912G>T)
c.768G>T
n.3354G>T
c.6281G>T (p.Arg2094Met)
c.6197G>T (p.Arg2066Met)
c.6167G>T (p.Arg2056Met)
c.6119G>T (p.Arg2040Met)
c.6080G>T (p.Arg2027Met)
c.6005G>T (p.Arg2002Met)
n.6626G>T
c.6194G>T (p.Arg2065Met)
c.6164G>T (p.Arg2055Met)
c.6116G>T (p.Arg2039Met)
c.6083G>T (p.Arg2028Met)
c.6053G>T (p.Arg2018Met)
c.6050G>T (p.Arg2017Met)
c.6002G>T (p.Arg2001Met)
c.5966G>T (p.Arg1989Met)
c.5963G>T (p.Arg1988Met)
c.5918G>T (p.Arg1973Met)
n.6583G>T
Xg.77574292C>GCA413701043ATRXc.6284G>C (p.Arg2095Thr)
c.1382G>C (p.Arg461Thr)
c.6170G>C (p.Arg2057Thr)
c.*5912G>C (n.*5912G>C)
c.768G>C
n.3354G>C
c.6281G>C (p.Arg2094Thr)
c.6197G>C (p.Arg2066Thr)
c.6167G>C (p.Arg2056Thr)
c.6119G>C (p.Arg2040Thr)
c.6080G>C (p.Arg2027Thr)
c.6005G>C (p.Arg2002Thr)
n.6626G>C
c.6194G>C (p.Arg2065Thr)
c.6164G>C (p.Arg2055Thr)
c.6116G>C (p.Arg2039Thr)
c.6083G>C (p.Arg2028Thr)
c.6053G>C (p.Arg2018Thr)
c.6050G>C (p.Arg2017Thr)
c.6002G>C (p.Arg2001Thr)
c.5966G>C (p.Arg1989Thr)
c.5963G>C (p.Arg1988Thr)
c.5918G>C (p.Arg1973Thr)
n.6583G>C
Xg.77574292C>TCA413701047ATRXc.6284G>A (p.Arg2095Lys)
c.1382G>A (p.Arg461Lys)
c.6170G>A (p.Arg2057Lys)
c.*5912G>A (n.*5912G>A)
c.768G>A
n.3354G>A
c.6281G>A (p.Arg2094Lys)
c.6197G>A (p.Arg2066Lys)
c.6167G>A (p.Arg2056Lys)
c.6119G>A (p.Arg2040Lys)
c.6080G>A (p.Arg2027Lys)
c.6005G>A (p.Arg2002Lys)
n.6626G>A
c.6194G>A (p.Arg2065Lys)
c.6164G>A (p.Arg2055Lys)
c.6116G>A (p.Arg2039Lys)
c.6083G>A (p.Arg2028Lys)
c.6053G>A (p.Arg2018Lys)
c.6050G>A (p.Arg2017Lys)
c.6002G>A (p.Arg2001Lys)
c.5966G>A (p.Arg1989Lys)
c.5963G>A (p.Arg1988Lys)
c.5918G>A (p.Arg1973Lys)
n.6583G>A
Xg.77574293T>ACA413701049ATRXc.6283A>T (p.Arg2095Trp)
c.1381A>T (p.Arg461Trp)
c.6169A>T (p.Arg2057Trp)
c.*5911A>T (n.*5911A>T)
c.767A>T
n.3353A>T
c.6280A>T (p.Arg2094Trp)
c.6196A>T (p.Arg2066Trp)
c.6166A>T (p.Arg2056Trp)
c.6118A>T (p.Arg2040Trp)
c.6079A>T (p.Arg2027Trp)
c.6004A>T (p.Arg2002Trp)
n.6625A>T
c.6193A>T (p.Arg2065Trp)
c.6163A>T (p.Arg2055Trp)
c.6115A>T (p.Arg2039Trp)
c.6082A>T (p.Arg2028Trp)
c.6052A>T (p.Arg2018Trp)
c.6049A>T (p.Arg2017Trp)
c.6001A>T (p.Arg2001Trp)
c.5965A>T (p.Arg1989Trp)
c.5962A>T (p.Arg1988Trp)
c.5917A>T (p.Arg1973Trp)
n.6582A>T
Xg.77574293T>CCA413701051ATRXc.6283A>G (p.Arg2095Gly)
c.1381A>G (p.Arg461Gly)
c.6169A>G (p.Arg2057Gly)
c.*5911A>G (n.*5911A>G)
c.767A>G
n.3353A>G
c.6280A>G (p.Arg2094Gly)
c.6196A>G (p.Arg2066Gly)
c.6166A>G (p.Arg2056Gly)
c.6118A>G (p.Arg2040Gly)
c.6079A>G (p.Arg2027Gly)
c.6004A>G (p.Arg2002Gly)
n.6625A>G
c.6193A>G (p.Arg2065Gly)
c.6163A>G (p.Arg2055Gly)
c.6115A>G (p.Arg2039Gly)
c.6082A>G (p.Arg2028Gly)
c.6052A>G (p.Arg2018Gly)
c.6049A>G (p.Arg2017Gly)
c.6001A>G (p.Arg2001Gly)
c.5965A>G (p.Arg1989Gly)
c.5962A>G (p.Arg1988Gly)
c.5917A>G (p.Arg1973Gly)
n.6582A>G
Xg.77574293T>GCA517374770ATRXc.6283A>C (p.Arg2095=)
c.1381A>C (p.Arg461=)
c.6169A>C (p.Arg2057=)
c.*5911A>C (n.*5911A>C)
c.767A>C
n.3353A>C
c.6280A>C (p.Arg2094=)
c.6196A>C (p.Arg2066=)
c.6166A>C (p.Arg2056=)
c.6118A>C (p.Arg2040=)
c.6079A>C (p.Arg2027=)
c.6004A>C (p.Arg2002=)
n.6625A>C
c.6193A>C (p.Arg2065=)
c.6163A>C (p.Arg2055=)
c.6115A>C (p.Arg2039=)
c.6082A>C (p.Arg2028=)
c.6052A>C (p.Arg2018=)
c.6049A>C (p.Arg2017=)
c.6001A>C (p.Arg2001=)
c.5965A>C (p.Arg1989=)
c.5962A>C (p.Arg1988=)
c.5917A>C (p.Arg1973=)
n.6582A>C
Xg.77574294delCA2694140376ATRXc.6283del (p.Arg2095GlyfsTer14)
c.1381del (p.Arg461GlyfsTer14)
c.6169del (p.Arg2057GlyfsTer14)
c.*5911del (n.*5911del)
c.767del
n.3353del
c.6280del (p.Arg2094GlyfsTer14)
c.6196del (p.Arg2066GlyfsTer14)
c.6166del (p.Arg2056GlyfsTer14)
c.6118del (p.Arg2040GlyfsTer14)
c.6079del (p.Arg2027GlyfsTer14)
c.6004del (p.Arg2002GlyfsTer14)
n.6625del
c.6193del (p.Arg2065GlyfsTer14)
c.6163del (p.Arg2055GlyfsTer14)
c.6115del (p.Arg2039GlyfsTer14)
c.6082del (p.Arg2028GlyfsTer14)
c.6052del (p.Arg2018GlyfsTer14)
c.6049del (p.Arg2017GlyfsTer14)
c.6001del (p.Arg2001GlyfsTer14)
c.5965del (p.Arg1989GlyfsTer14)
c.5962del (p.Arg1988GlyfsTer14)
c.5917del (p.Arg1973GlyfsTer14)
n.6582del
 gnomAD v4
Xg.77574294T>ACA517374771ATRXc.6282A>T (p.Ser2094=)
c.1380A>T (p.Ser460=)
c.6168A>T (p.Ser2056=)
c.*5910A>T (n.*5910A>T)
c.766A>T
n.3352A>T
c.6279A>T (p.Ser2093=)
c.6195A>T (p.Ser2065=)
c.6165A>T (p.Ser2055=)
c.6117A>T (p.Ser2039=)
c.6078A>T (p.Ser2026=)
c.6003A>T (p.Ser2001=)
n.6624A>T
c.6192A>T (p.Ser2064=)
c.6162A>T (p.Ser2054=)
c.6114A>T (p.Ser2038=)
c.6081A>T (p.Ser2027=)
c.6051A>T (p.Ser2017=)
c.6048A>T (p.Ser2016=)
c.6000A>T (p.Ser2000=)
c.5964A>T (p.Ser1988=)
c.5961A>T (p.Ser1987=)
c.5916A>T (p.Ser1972=)
n.6581A>T
Xg.77574294T>CCA517374773ATRXc.6282A>G (p.Ser2094=)
c.1380A>G (p.Ser460=)
c.6168A>G (p.Ser2056=)
c.*5910A>G (n.*5910A>G)
c.766A>G
n.3352A>G
c.6279A>G (p.Ser2093=)
c.6195A>G (p.Ser2065=)
c.6165A>G (p.Ser2055=)
c.6117A>G (p.Ser2039=)
c.6078A>G (p.Ser2026=)
c.6003A>G (p.Ser2001=)
n.6624A>G
c.6192A>G (p.Ser2064=)
c.6162A>G (p.Ser2054=)
c.6114A>G (p.Ser2038=)
c.6081A>G (p.Ser2027=)
c.6051A>G (p.Ser2017=)
c.6048A>G (p.Ser2016=)
c.6000A>G (p.Ser2000=)
c.5964A>G (p.Ser1988=)
c.5961A>G (p.Ser1987=)
c.5916A>G (p.Ser1972=)
n.6581A>G
Xg.77574294T>GCA517374775ATRXc.6282A>C (p.Ser2094=)
c.1380A>C (p.Ser460=)
c.6168A>C (p.Ser2056=)
c.*5910A>C (n.*5910A>C)
c.766A>C
n.3352A>C
c.6279A>C (p.Ser2093=)
c.6195A>C (p.Ser2065=)
c.6165A>C (p.Ser2055=)
c.6117A>C (p.Ser2039=)
c.6078A>C (p.Ser2026=)
c.6003A>C (p.Ser2001=)
n.6624A>C
c.6192A>C (p.Ser2064=)
c.6162A>C (p.Ser2054=)
c.6114A>C (p.Ser2038=)
c.6081A>C (p.Ser2027=)
c.6051A>C (p.Ser2017=)
c.6048A>C (p.Ser2016=)
c.6000A>C (p.Ser2000=)
c.5964A>C (p.Ser1988=)
c.5961A>C (p.Ser1987=)
c.5916A>C (p.Ser1972=)
n.6581A>C
Xg.77574295delCA2579648814ATRXc.6281del (p.Ser2094Ter)
c.1379del (p.Ser460Ter)
c.6167del (p.Ser2056Ter)
c.*5909del (n.*5909del)
c.765del
n.3351del
c.6278del (p.Ser2093Ter)
c.6194del (p.Ser2065Ter)
c.6164del (p.Ser2055Ter)
c.6116del (p.Ser2039Ter)
c.6077del (p.Ser2026Ter)
c.6002del (p.Ser2001Ter)
n.6623del
c.6191del (p.Ser2064Ter)
c.6161del (p.Ser2054Ter)
c.6113del (p.Ser2038Ter)
c.6080del (p.Ser2027Ter)
c.6050del (p.Ser2017Ter)
c.6047del (p.Ser2016Ter)
c.5999del (p.Ser2000Ter)
c.5963del (p.Ser1988Ter)
c.5960del (p.Ser1987Ter)
c.5915del (p.Ser1972Ter)
n.6580del
Xg.77574295G>ACA10457520ATRXc.6281C>T (p.Ser2094Leu)
c.1379C>T (p.Ser460Leu)
c.6167C>T (p.Ser2056Leu)
c.*5909C>T (n.*5909C>T)
c.765C>T
n.3351C>T
c.6278C>T (p.Ser2093Leu)
c.6194C>T (p.Ser2065Leu)
c.6164C>T (p.Ser2055Leu)
c.6116C>T (p.Ser2039Leu)
c.6077C>T (p.Ser2026Leu)
c.6002C>T (p.Ser2001Leu)
n.6623C>T
c.6191C>T (p.Ser2064Leu)
c.6161C>T (p.Ser2054Leu)
c.6113C>T (p.Ser2038Leu)
c.6080C>T (p.Ser2027Leu)
c.6050C>T (p.Ser2017Leu)
c.6047C>T (p.Ser2016Leu)
c.5999C>T (p.Ser2000Leu)
c.5963C>T (p.Ser1988Leu)
c.5960C>T (p.Ser1987Leu)
c.5915C>T (p.Ser1972Leu)
n.6580C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77574295G>CCA413701057ATRXc.6281C>G (p.Ser2094Ter)
c.1379C>G (p.Ser460Ter)
c.6167C>G (p.Ser2056Ter)
c.*5909C>G (n.*5909C>G)
c.765C>G
n.3351C>G
c.6278C>G (p.Ser2093Ter)
c.6194C>G (p.Ser2065Ter)
c.6164C>G (p.Ser2055Ter)
c.6116C>G (p.Ser2039Ter)
c.6077C>G (p.Ser2026Ter)
c.6002C>G (p.Ser2001Ter)
n.6623C>G
c.6191C>G (p.Ser2064Ter)
c.6161C>G (p.Ser2054Ter)
c.6113C>G (p.Ser2038Ter)
c.6080C>G (p.Ser2027Ter)
c.6050C>G (p.Ser2017Ter)
c.6047C>G (p.Ser2016Ter)
c.5999C>G (p.Ser2000Ter)
c.5963C>G (p.Ser1988Ter)
c.5960C>G (p.Ser1987Ter)
c.5915C>G (p.Ser1972Ter)
n.6580C>G
 COSMIC COSMIC
Xg.77574295G=CA2438951395ATRXc.6281C= (p.Ser2094=)
c.1379C= (p.Ser460=)
c.6167C= (p.Ser2056=)
c.*5909C= (n.*5909C=)
c.765C=
n.3351C=
c.6278C= (p.Ser2093=)
c.6194C= (p.Ser2065=)
c.6164C= (p.Ser2055=)
c.6116C= (p.Ser2039=)
c.6077C= (p.Ser2026=)
c.6002C= (p.Ser2001=)
n.6623C=
c.6191C= (p.Ser2064=)
c.6161C= (p.Ser2054=)
c.6113C= (p.Ser2038=)
c.6080C= (p.Ser2027=)
c.6050C= (p.Ser2017=)
c.6047C= (p.Ser2016=)
c.5999C= (p.Ser2000=)
c.5963C= (p.Ser1988=)
c.5960C= (p.Ser1987=)
c.5915C= (p.Ser1972=)
n.6580C=
Xg.77574295G>TCA413701055ATRXc.6281C>A (p.Ser2094Ter)
c.1379C>A (p.Ser460Ter)
c.6167C>A (p.Ser2056Ter)
c.*5909C>A (n.*5909C>A)
c.765C>A
n.3351C>A
c.6278C>A (p.Ser2093Ter)
c.6194C>A (p.Ser2065Ter)
c.6164C>A (p.Ser2055Ter)
c.6116C>A (p.Ser2039Ter)
c.6077C>A (p.Ser2026Ter)
c.6002C>A (p.Ser2001Ter)
n.6623C>A
c.6191C>A (p.Ser2064Ter)
c.6161C>A (p.Ser2054Ter)
c.6113C>A (p.Ser2038Ter)
c.6080C>A (p.Ser2027Ter)
c.6050C>A (p.Ser2017Ter)
c.6047C>A (p.Ser2016Ter)
c.5999C>A (p.Ser2000Ter)
c.5963C>A (p.Ser1988Ter)
c.5960C>A (p.Ser1987Ter)
c.5915C>A (p.Ser1972Ter)
n.6580C>A
Xg.77574296A>CCA413701061ATRXc.6280T>G (p.Ser2094Ala)
c.1378T>G (p.Ser460Ala)
c.6166T>G (p.Ser2056Ala)
c.*5908T>G (n.*5908T>G)
c.764T>G
n.3350T>G
c.6277T>G (p.Ser2093Ala)
c.6193T>G (p.Ser2065Ala)
c.6163T>G (p.Ser2055Ala)
c.6115T>G (p.Ser2039Ala)
c.6076T>G (p.Ser2026Ala)
c.6001T>G (p.Ser2001Ala)
n.6622T>G
c.6190T>G (p.Ser2064Ala)
c.6160T>G (p.Ser2054Ala)
c.6112T>G (p.Ser2038Ala)
c.6079T>G (p.Ser2027Ala)
c.6049T>G (p.Ser2017Ala)
c.6046T>G (p.Ser2016Ala)
c.5998T>G (p.Ser2000Ala)
c.5962T>G (p.Ser1988Ala)
c.5959T>G (p.Ser1987Ala)
c.5914T>G (p.Ser1972Ala)
n.6579T>G
Xg.77574296A>GCA413701063ATRXc.6280T>C (p.Ser2094Pro)
c.1378T>C (p.Ser460Pro)
c.6166T>C (p.Ser2056Pro)
c.*5908T>C (n.*5908T>C)
c.764T>C
n.3350T>C
c.6277T>C (p.Ser2093Pro)
c.6193T>C (p.Ser2065Pro)
c.6163T>C (p.Ser2055Pro)
c.6115T>C (p.Ser2039Pro)
c.6076T>C (p.Ser2026Pro)
c.6001T>C (p.Ser2001Pro)
n.6622T>C
c.6190T>C (p.Ser2064Pro)
c.6160T>C (p.Ser2054Pro)
c.6112T>C (p.Ser2038Pro)
c.6079T>C (p.Ser2027Pro)
c.6049T>C (p.Ser2017Pro)
c.6046T>C (p.Ser2016Pro)
c.5998T>C (p.Ser2000Pro)
c.5962T>C (p.Ser1988Pro)
c.5959T>C (p.Ser1987Pro)
c.5914T>C (p.Ser1972Pro)
n.6579T>C
Xg.77574296A>TCA413701064ATRXc.6280T>A (p.Ser2094Thr)
c.1378T>A (p.Ser460Thr)
c.6166T>A (p.Ser2056Thr)
c.*5908T>A (n.*5908T>A)
c.764T>A
n.3350T>A
c.6277T>A (p.Ser2093Thr)
c.6193T>A (p.Ser2065Thr)
c.6163T>A (p.Ser2055Thr)
c.6115T>A (p.Ser2039Thr)
c.6076T>A (p.Ser2026Thr)
c.6001T>A (p.Ser2001Thr)
n.6622T>A
c.6190T>A (p.Ser2064Thr)
c.6160T>A (p.Ser2054Thr)
c.6112T>A (p.Ser2038Thr)
c.6079T>A (p.Ser2027Thr)
c.6049T>A (p.Ser2017Thr)
c.6046T>A (p.Ser2016Thr)
c.5998T>A (p.Ser2000Thr)
c.5962T>A (p.Ser1988Thr)
c.5959T>A (p.Ser1987Thr)
c.5914T>A (p.Ser1972Thr)
n.6579T>A
Xg.77574297C>ACA413701065ATRXc.6279G>T (p.Gln2093His)
c.1377G>T (p.Gln459His)
c.6165G>T (p.Gln2055His)
c.*5907G>T (n.*5907G>T)
c.763G>T
n.3349G>T
c.6276G>T (p.Gln2092His)
c.6192G>T (p.Gln2064His)
c.6162G>T (p.Gln2054His)
c.6114G>T (p.Gln2038His)
c.6075G>T (p.Gln2025His)
c.6000G>T (p.Gln2000His)
n.6621G>T
c.6189G>T (p.Gln2063His)
c.6159G>T (p.Gln2053His)
c.6111G>T (p.Gln2037His)
c.6078G>T (p.Gln2026His)
c.6048G>T (p.Gln2016His)
c.6045G>T (p.Gln2015His)
c.5997G>T (p.Gln1999His)
c.5961G>T (p.Gln1987His)
c.5958G>T (p.Gln1986His)
c.5913G>T (p.Gln1971His)
n.6578G>T
Xg.77574297C>GCA413701066ATRXc.6279G>C (p.Gln2093His)
c.1377G>C (p.Gln459His)
c.6165G>C (p.Gln2055His)
c.*5907G>C (n.*5907G>C)
c.763G>C
n.3349G>C
c.6276G>C (p.Gln2092His)
c.6192G>C (p.Gln2064His)
c.6162G>C (p.Gln2054His)
c.6114G>C (p.Gln2038His)
c.6075G>C (p.Gln2025His)
c.6000G>C (p.Gln2000His)
n.6621G>C
c.6189G>C (p.Gln2063His)
c.6159G>C (p.Gln2053His)
c.6111G>C (p.Gln2037His)
c.6078G>C (p.Gln2026His)
c.6048G>C (p.Gln2016His)
c.6045G>C (p.Gln2015His)
c.5997G>C (p.Gln1999His)
c.5961G>C (p.Gln1987His)
c.5958G>C (p.Gln1986His)
c.5913G>C (p.Gln1971His)
n.6578G>C
Xg.77574297C>TCA517374777ATRXc.6279G>A (p.Gln2093=)
c.1377G>A (p.Gln459=)
c.6165G>A (p.Gln2055=)
c.*5907G>A (n.*5907G>A)
c.763G>A
n.3349G>A
c.6276G>A (p.Gln2092=)
c.6192G>A (p.Gln2064=)
c.6162G>A (p.Gln2054=)
c.6114G>A (p.Gln2038=)
c.6075G>A (p.Gln2025=)
c.6000G>A (p.Gln2000=)
n.6621G>A
c.6189G>A (p.Gln2063=)
c.6159G>A (p.Gln2053=)
c.6111G>A (p.Gln2037=)
c.6078G>A (p.Gln2026=)
c.6048G>A (p.Gln2016=)
c.6045G>A (p.Gln2015=)
c.5997G>A (p.Gln1999=)
c.5961G>A (p.Gln1987=)
c.5958G>A (p.Gln1986=)
c.5913G>A (p.Gln1971=)
n.6578G>A
 dbSNP gnomAD v4
Xg.77574298T>ACA413701067ATRXc.6278A>T (p.Gln2093Leu)
c.1376A>T (p.Gln459Leu)
c.6164A>T (p.Gln2055Leu)
c.*5906A>T (n.*5906A>T)
c.762A>T
n.3348A>T
c.6275A>T (p.Gln2092Leu)
c.6191A>T (p.Gln2064Leu)
c.6161A>T (p.Gln2054Leu)
c.6113A>T (p.Gln2038Leu)
c.6074A>T (p.Gln2025Leu)
c.5999A>T (p.Gln2000Leu)
n.6620A>T
c.6188A>T (p.Gln2063Leu)
c.6158A>T (p.Gln2053Leu)
c.6110A>T (p.Gln2037Leu)
c.6077A>T (p.Gln2026Leu)
c.6047A>T (p.Gln2016Leu)
c.6044A>T (p.Gln2015Leu)
c.5996A>T (p.Gln1999Leu)
c.5960A>T (p.Gln1987Leu)
c.5957A>T (p.Gln1986Leu)
c.5912A>T (p.Gln1971Leu)
n.6577A>T
Xg.77574298T>CCA413701068ATRXc.6278A>G (p.Gln2093Arg)
c.1376A>G (p.Gln459Arg)
c.6164A>G (p.Gln2055Arg)
c.*5906A>G (n.*5906A>G)
c.762A>G
n.3348A>G
c.6275A>G (p.Gln2092Arg)
c.6191A>G (p.Gln2064Arg)
c.6161A>G (p.Gln2054Arg)
c.6113A>G (p.Gln2038Arg)
c.6074A>G (p.Gln2025Arg)
c.5999A>G (p.Gln2000Arg)
n.6620A>G
c.6188A>G (p.Gln2063Arg)
c.6158A>G (p.Gln2053Arg)
c.6110A>G (p.Gln2037Arg)
c.6077A>G (p.Gln2026Arg)
c.6047A>G (p.Gln2016Arg)
c.6044A>G (p.Gln2015Arg)
c.5996A>G (p.Gln1999Arg)
c.5960A>G (p.Gln1987Arg)
c.5957A>G (p.Gln1986Arg)
c.5912A>G (p.Gln1971Arg)
n.6577A>G
Xg.77574298T>GCA413701069ATRXc.6278A>C (p.Gln2093Pro)
c.1376A>C (p.Gln459Pro)
c.6164A>C (p.Gln2055Pro)
c.*5906A>C (n.*5906A>C)
c.762A>C
n.3348A>C
c.6275A>C (p.Gln2092Pro)
c.6191A>C (p.Gln2064Pro)
c.6161A>C (p.Gln2054Pro)
c.6113A>C (p.Gln2038Pro)
c.6074A>C (p.Gln2025Pro)
c.5999A>C (p.Gln2000Pro)
n.6620A>C
c.6188A>C (p.Gln2063Pro)
c.6158A>C (p.Gln2053Pro)
c.6110A>C (p.Gln2037Pro)
c.6077A>C (p.Gln2026Pro)
c.6047A>C (p.Gln2016Pro)
c.6044A>C (p.Gln2015Pro)
c.5996A>C (p.Gln1999Pro)
c.5960A>C (p.Gln1987Pro)
c.5957A>C (p.Gln1986Pro)
c.5912A>C (p.Gln1971Pro)
n.6577A>C
Xg.77574299G>ACA413701070ATRXc.6277C>T (p.Gln2093Ter)
c.1375C>T (p.Gln459Ter)
c.6163C>T (p.Gln2055Ter)
c.*5905C>T (n.*5905C>T)
c.761C>T
n.3347C>T
c.6274C>T (p.Gln2092Ter)
c.6190C>T (p.Gln2064Ter)
c.6160C>T (p.Gln2054Ter)
c.6112C>T (p.Gln2038Ter)
c.6073C>T (p.Gln2025Ter)
c.5998C>T (p.Gln2000Ter)
n.6619C>T
c.6187C>T (p.Gln2063Ter)
c.6157C>T (p.Gln2053Ter)
c.6109C>T (p.Gln2037Ter)
c.6076C>T (p.Gln2026Ter)
c.6046C>T (p.Gln2016Ter)
c.6043C>T (p.Gln2015Ter)
c.5995C>T (p.Gln1999Ter)
c.5959C>T (p.Gln1987Ter)
c.5956C>T (p.Gln1986Ter)
c.5911C>T (p.Gln1971Ter)
n.6576C>T
Xg.77574299G>CCA413701071ATRXc.6277C>G (p.Gln2093Glu)
c.1375C>G (p.Gln459Glu)
c.6163C>G (p.Gln2055Glu)
c.*5905C>G (n.*5905C>G)
c.761C>G
n.3347C>G
c.6274C>G (p.Gln2092Glu)
c.6190C>G (p.Gln2064Glu)
c.6160C>G (p.Gln2054Glu)
c.6112C>G (p.Gln2038Glu)
c.6073C>G (p.Gln2025Glu)
c.5998C>G (p.Gln2000Glu)
n.6619C>G
c.6187C>G (p.Gln2063Glu)
c.6157C>G (p.Gln2053Glu)
c.6109C>G (p.Gln2037Glu)
c.6076C>G (p.Gln2026Glu)
c.6046C>G (p.Gln2016Glu)
c.6043C>G (p.Gln2015Glu)
c.5995C>G (p.Gln1999Glu)
c.5959C>G (p.Gln1987Glu)
c.5956C>G (p.Gln1986Glu)
c.5911C>G (p.Gln1971Glu)
n.6576C>G
Xg.77574299G>TCA413701072ATRXc.6277C>A (p.Gln2093Lys)
c.1375C>A (p.Gln459Lys)
c.6163C>A (p.Gln2055Lys)
c.*5905C>A (n.*5905C>A)
c.761C>A
n.3347C>A
c.6274C>A (p.Gln2092Lys)
c.6190C>A (p.Gln2064Lys)
c.6160C>A (p.Gln2054Lys)
c.6112C>A (p.Gln2038Lys)
c.6073C>A (p.Gln2025Lys)
c.5998C>A (p.Gln2000Lys)
n.6619C>A
c.6187C>A (p.Gln2063Lys)
c.6157C>A (p.Gln2053Lys)
c.6109C>A (p.Gln2037Lys)
c.6076C>A (p.Gln2026Lys)
c.6046C>A (p.Gln2016Lys)
c.6043C>A (p.Gln2015Lys)
c.5995C>A (p.Gln1999Lys)
c.5959C>A (p.Gln1987Lys)
c.5956C>A (p.Gln1986Lys)
c.5911C>A (p.Gln1971Lys)
n.6576C>A
Xg.77574300T>ACA517374778ATRXc.6276A>T (p.Ala2092=)
c.1374A>T (p.Ala458=)
c.6162A>T (p.Ala2054=)
c.*5904A>T (n.*5904A>T)
c.760A>T
n.3346A>T
c.6273A>T (p.Ala2091=)
c.6189A>T (p.Ala2063=)
c.6159A>T (p.Ala2053=)
c.6111A>T (p.Ala2037=)
c.6072A>T (p.Ala2024=)
c.5997A>T (p.Ala1999=)
n.6618A>T
c.6186A>T (p.Ala2062=)
c.6156A>T (p.Ala2052=)
c.6108A>T (p.Ala2036=)
c.6075A>T (p.Ala2025=)
c.6045A>T (p.Ala2015=)
c.6042A>T (p.Ala2014=)
c.5994A>T (p.Ala1998=)
c.5958A>T (p.Ala1986=)
c.5955A>T (p.Ala1985=)
c.5910A>T (p.Ala1970=)
n.6575A>T
Xg.77574300T>CCA517374779ATRXc.6276A>G (p.Ala2092=)
c.1374A>G (p.Ala458=)
c.6162A>G (p.Ala2054=)
c.*5904A>G (n.*5904A>G)
c.760A>G
n.3346A>G
c.6273A>G (p.Ala2091=)
c.6189A>G (p.Ala2063=)
c.6159A>G (p.Ala2053=)
c.6111A>G (p.Ala2037=)
c.6072A>G (p.Ala2024=)
c.5997A>G (p.Ala1999=)
n.6618A>G
c.6186A>G (p.Ala2062=)
c.6156A>G (p.Ala2052=)
c.6108A>G (p.Ala2036=)
c.6075A>G (p.Ala2025=)
c.6045A>G (p.Ala2015=)
c.6042A>G (p.Ala2014=)
c.5994A>G (p.Ala1998=)
c.5958A>G (p.Ala1986=)
c.5955A>G (p.Ala1985=)
c.5910A>G (p.Ala1970=)
n.6575A>G
Xg.77574300T>GCA517374780ATRXc.6276A>C (p.Ala2092=)
c.1374A>C (p.Ala458=)
c.6162A>C (p.Ala2054=)
c.*5904A>C (n.*5904A>C)
c.760A>C
n.3346A>C
c.6273A>C (p.Ala2091=)
c.6189A>C (p.Ala2063=)
c.6159A>C (p.Ala2053=)
c.6111A>C (p.Ala2037=)
c.6072A>C (p.Ala2024=)
c.5997A>C (p.Ala1999=)
n.6618A>C
c.6186A>C (p.Ala2062=)
c.6156A>C (p.Ala2052=)
c.6108A>C (p.Ala2036=)
c.6075A>C (p.Ala2025=)
c.6045A>C (p.Ala2015=)
c.6042A>C (p.Ala2014=)
c.5994A>C (p.Ala1998=)
c.5958A>C (p.Ala1986=)
c.5955A>C (p.Ala1985=)
c.5910A>C (p.Ala1970=)
n.6575A>C
 ClinVar dbSNP COSMIC COSMIC
Xg.77574301G>ACA413701075ATRXc.6275C>T (p.Ala2092Val)
c.1373C>T (p.Ala458Val)
c.6161C>T (p.Ala2054Val)
c.*5903C>T (n.*5903C>T)
c.759C>T
n.3345C>T
c.6272C>T (p.Ala2091Val)
c.6188C>T (p.Ala2063Val)
c.6158C>T (p.Ala2053Val)
c.6110C>T (p.Ala2037Val)
c.6071C>T (p.Ala2024Val)
c.5996C>T (p.Ala1999Val)
n.6617C>T
c.6185C>T (p.Ala2062Val)
c.6155C>T (p.Ala2052Val)
c.6107C>T (p.Ala2036Val)
c.6074C>T (p.Ala2025Val)
c.6044C>T (p.Ala2015Val)
c.6041C>T (p.Ala2014Val)
c.5993C>T (p.Ala1998Val)
c.5957C>T (p.Ala1986Val)
c.5954C>T (p.Ala1985Val)
c.5909C>T (p.Ala1970Val)
n.6574C>T
Xg.77574301G>CCA413701074ATRXc.6275C>G (p.Ala2092Gly)
c.1373C>G (p.Ala458Gly)
c.6161C>G (p.Ala2054Gly)
c.*5903C>G (n.*5903C>G)
c.759C>G
n.3345C>G
c.6272C>G (p.Ala2091Gly)
c.6188C>G (p.Ala2063Gly)
c.6158C>G (p.Ala2053Gly)
c.6110C>G (p.Ala2037Gly)
c.6071C>G (p.Ala2024Gly)
c.5996C>G (p.Ala1999Gly)
n.6617C>G
c.6185C>G (p.Ala2062Gly)
c.6155C>G (p.Ala2052Gly)
c.6107C>G (p.Ala2036Gly)
c.6074C>G (p.Ala2025Gly)
c.6044C>G (p.Ala2015Gly)
c.6041C>G (p.Ala2014Gly)
c.5993C>G (p.Ala1998Gly)
c.5957C>G (p.Ala1986Gly)
c.5954C>G (p.Ala1985Gly)
c.5909C>G (p.Ala1970Gly)
n.6574C>G
Xg.77574301G>TCA413701073ATRXc.6275C>A (p.Ala2092Glu)
c.1373C>A (p.Ala458Glu)
c.6161C>A (p.Ala2054Glu)
c.*5903C>A (n.*5903C>A)
c.759C>A
n.3345C>A
c.6272C>A (p.Ala2091Glu)
c.6188C>A (p.Ala2063Glu)
c.6158C>A (p.Ala2053Glu)
c.6110C>A (p.Ala2037Glu)
c.6071C>A (p.Ala2024Glu)
c.5996C>A (p.Ala1999Glu)
n.6617C>A
c.6185C>A (p.Ala2062Glu)
c.6155C>A (p.Ala2052Glu)
c.6107C>A (p.Ala2036Glu)
c.6074C>A (p.Ala2025Glu)
c.6044C>A (p.Ala2015Glu)
c.6041C>A (p.Ala2014Glu)
c.5993C>A (p.Ala1998Glu)
c.5957C>A (p.Ala1986Glu)
c.5954C>A (p.Ala1985Glu)
c.5909C>A (p.Ala1970Glu)
n.6574C>A
Xg.77574302C>ACA413701076ATRXc.6274G>T (p.Ala2092Ser)
c.1372G>T (p.Ala458Ser)
c.6160G>T (p.Ala2054Ser)
c.*5902G>T (n.*5902G>T)
c.758G>T
n.3344G>T
c.6271G>T (p.Ala2091Ser)
c.6187G>T (p.Ala2063Ser)
c.6157G>T (p.Ala2053Ser)
c.6109G>T (p.Ala2037Ser)
c.6070G>T (p.Ala2024Ser)
c.5995G>T (p.Ala1999Ser)
n.6616G>T
c.6184G>T (p.Ala2062Ser)
c.6154G>T (p.Ala2052Ser)
c.6106G>T (p.Ala2036Ser)
c.6073G>T (p.Ala2025Ser)
c.6043G>T (p.Ala2015Ser)
c.6040G>T (p.Ala2014Ser)
c.5992G>T (p.Ala1998Ser)
c.5956G>T (p.Ala1986Ser)
c.5953G>T (p.Ala1985Ser)
c.5908G>T (p.Ala1970Ser)
n.6573G>T
Xg.77574302C>GCA413701077ATRXc.6274G>C (p.Ala2092Pro)
c.1372G>C (p.Ala458Pro)
c.6160G>C (p.Ala2054Pro)
c.*5902G>C (n.*5902G>C)
c.758G>C
n.3344G>C
c.6271G>C (p.Ala2091Pro)
c.6187G>C (p.Ala2063Pro)
c.6157G>C (p.Ala2053Pro)
c.6109G>C (p.Ala2037Pro)
c.6070G>C (p.Ala2024Pro)
c.5995G>C (p.Ala1999Pro)
n.6616G>C
c.6184G>C (p.Ala2062Pro)
c.6154G>C (p.Ala2052Pro)
c.6106G>C (p.Ala2036Pro)
c.6073G>C (p.Ala2025Pro)
c.6043G>C (p.Ala2015Pro)
c.6040G>C (p.Ala2014Pro)
c.5992G>C (p.Ala1998Pro)
c.5956G>C (p.Ala1986Pro)
c.5953G>C (p.Ala1985Pro)
c.5908G>C (p.Ala1970Pro)
n.6573G>C
Xg.77574302C>TCA413701078ATRXc.6274G>A (p.Ala2092Thr)
c.1372G>A (p.Ala458Thr)
c.6160G>A (p.Ala2054Thr)
c.*5902G>A (n.*5902G>A)
c.758G>A
n.3344G>A
c.6271G>A (p.Ala2091Thr)
c.6187G>A (p.Ala2063Thr)
c.6157G>A (p.Ala2053Thr)
c.6109G>A (p.Ala2037Thr)
c.6070G>A (p.Ala2024Thr)
c.5995G>A (p.Ala1999Thr)
n.6616G>A
c.6184G>A (p.Ala2062Thr)
c.6154G>A (p.Ala2052Thr)
c.6106G>A (p.Ala2036Thr)
c.6073G>A (p.Ala2025Thr)
c.6043G>A (p.Ala2015Thr)
c.6040G>A (p.Ala2014Thr)
c.5992G>A (p.Ala1998Thr)
c.5956G>A (p.Ala1986Thr)
c.5953G>A (p.Ala1985Thr)
c.5908G>A (p.Ala1970Thr)
n.6573G>A
 dbSNP
Xg.77574303A=CA2438951396ATRXc.6273T= (p.Thr2091=)
c.1371T= (p.Thr457=)
c.6159T= (p.Thr2053=)
c.*5901T= (n.*5901T=)
c.757T=
n.3343T=
c.6270T= (p.Thr2090=)
c.6186T= (p.Thr2062=)
c.6156T= (p.Thr2052=)
c.6108T= (p.Thr2036=)
c.6069T= (p.Thr2023=)
c.5994T= (p.Thr1998=)
n.6615T=
c.6183T= (p.Thr2061=)
c.6153T= (p.Thr2051=)
c.6105T= (p.Thr2035=)
c.6072T= (p.Thr2024=)
c.6042T= (p.Thr2014=)
c.6039T= (p.Thr2013=)
c.5991T= (p.Thr1997=)
c.5955T= (p.Thr1985=)
c.5952T= (p.Thr1984=)
c.5907T= (p.Thr1969=)
n.6572T=
Xg.77574303A>CCA517374781ATRXc.6273T>G (p.Thr2091=)
c.1371T>G (p.Thr457=)
c.6159T>G (p.Thr2053=)
c.*5901T>G (n.*5901T>G)
c.757T>G
n.3343T>G
c.6270T>G (p.Thr2090=)
c.6186T>G (p.Thr2062=)
c.6156T>G (p.Thr2052=)
c.6108T>G (p.Thr2036=)
c.6069T>G (p.Thr2023=)
c.5994T>G (p.Thr1998=)
n.6615T>G
c.6183T>G (p.Thr2061=)
c.6153T>G (p.Thr2051=)
c.6105T>G (p.Thr2035=)
c.6072T>G (p.Thr2024=)
c.6042T>G (p.Thr2014=)
c.6039T>G (p.Thr2013=)
c.5991T>G (p.Thr1997=)
c.5955T>G (p.Thr1985=)
c.5952T>G (p.Thr1984=)
c.5907T>G (p.Thr1969=)
n.6572T>G
Xg.77574303A>GCA517374782ATRXc.6273T>C (p.Thr2091=)
c.1371T>C (p.Thr457=)
c.6159T>C (p.Thr2053=)
c.*5901T>C (n.*5901T>C)
c.757T>C
n.3343T>C
c.6270T>C (p.Thr2090=)
c.6186T>C (p.Thr2062=)
c.6156T>C (p.Thr2052=)
c.6108T>C (p.Thr2036=)
c.6069T>C (p.Thr2023=)
c.5994T>C (p.Thr1998=)
n.6615T>C
c.6183T>C (p.Thr2061=)
c.6153T>C (p.Thr2051=)
c.6105T>C (p.Thr2035=)
c.6072T>C (p.Thr2024=)
c.6042T>C (p.Thr2014=)
c.6039T>C (p.Thr2013=)
c.5991T>C (p.Thr1997=)
c.5955T>C (p.Thr1985=)
c.5952T>C (p.Thr1984=)
c.5907T>C (p.Thr1969=)
n.6572T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.77574303A>TCA517374783ATRXc.6273T>A (p.Thr2091=)
c.1371T>A (p.Thr457=)
c.6159T>A (p.Thr2053=)
c.*5901T>A (n.*5901T>A)
c.757T>A
n.3343T>A
c.6270T>A (p.Thr2090=)
c.6186T>A (p.Thr2062=)
c.6156T>A (p.Thr2052=)
c.6108T>A (p.Thr2036=)
c.6069T>A (p.Thr2023=)
c.5994T>A (p.Thr1998=)
n.6615T>A
c.6183T>A (p.Thr2061=)
c.6153T>A (p.Thr2051=)
c.6105T>A (p.Thr2035=)
c.6072T>A (p.Thr2024=)
c.6042T>A (p.Thr2014=)
c.6039T>A (p.Thr2013=)
c.5991T>A (p.Thr1997=)
c.5955T>A (p.Thr1985=)
c.5952T>A (p.Thr1984=)
c.5907T>A (p.Thr1969=)
n.6572T>A
Xg.77574304G>ACA413701081ATRXc.6272C>T (p.Thr2091Ile)
c.1370C>T (p.Thr457Ile)
c.6158C>T (p.Thr2053Ile)
c.*5900C>T (n.*5900C>T)
c.756C>T
n.3342C>T
c.6269C>T (p.Thr2090Ile)
c.6185C>T (p.Thr2062Ile)
c.6155C>T (p.Thr2052Ile)
c.6107C>T (p.Thr2036Ile)
c.6068C>T (p.Thr2023Ile)
c.5993C>T (p.Thr1998Ile)
n.6614C>T
c.6182C>T (p.Thr2061Ile)
c.6152C>T (p.Thr2051Ile)
c.6104C>T (p.Thr2035Ile)
c.6071C>T (p.Thr2024Ile)
c.6041C>T (p.Thr2014Ile)
c.6038C>T (p.Thr2013Ile)
c.5990C>T (p.Thr1997Ile)
c.5954C>T (p.Thr1985Ile)
c.5951C>T (p.Thr1984Ile)
c.5906C>T (p.Thr1969Ile)
n.6571C>T
Xg.77574304G>CCA413701083ATRXc.6272C>G (p.Thr2091Ser)
c.1370C>G (p.Thr457Ser)
c.6158C>G (p.Thr2053Ser)
c.*5900C>G (n.*5900C>G)
c.756C>G
n.3342C>G
c.6269C>G (p.Thr2090Ser)
c.6185C>G (p.Thr2062Ser)
c.6155C>G (p.Thr2052Ser)
c.6107C>G (p.Thr2036Ser)
c.6068C>G (p.Thr2023Ser)
c.5993C>G (p.Thr1998Ser)
n.6614C>G
c.6182C>G (p.Thr2061Ser)
c.6152C>G (p.Thr2051Ser)
c.6104C>G (p.Thr2035Ser)
c.6071C>G (p.Thr2024Ser)
c.6041C>G (p.Thr2014Ser)
c.6038C>G (p.Thr2013Ser)
c.5990C>G (p.Thr1997Ser)
c.5954C>G (p.Thr1985Ser)
c.5951C>G (p.Thr1984Ser)
c.5906C>G (p.Thr1969Ser)
n.6571C>G
Xg.77574304G>TCA413701085ATRXc.6272C>A (p.Thr2091Asn)
c.1370C>A (p.Thr457Asn)
c.6158C>A (p.Thr2053Asn)
c.*5900C>A (n.*5900C>A)
c.756C>A
n.3342C>A
c.6269C>A (p.Thr2090Asn)
c.6185C>A (p.Thr2062Asn)
c.6155C>A (p.Thr2052Asn)
c.6107C>A (p.Thr2036Asn)
c.6068C>A (p.Thr2023Asn)
c.5993C>A (p.Thr1998Asn)
n.6614C>A
c.6182C>A (p.Thr2061Asn)
c.6152C>A (p.Thr2051Asn)
c.6104C>A (p.Thr2035Asn)
c.6071C>A (p.Thr2024Asn)
c.6041C>A (p.Thr2014Asn)
c.6038C>A (p.Thr2013Asn)
c.5990C>A (p.Thr1997Asn)
c.5954C>A (p.Thr1985Asn)
c.5951C>A (p.Thr1984Asn)
c.5906C>A (p.Thr1969Asn)
n.6571C>A
Xg.77574305T>ACA413701092ATRXc.6271A>T (p.Thr2091Ser)
c.1369A>T (p.Thr457Ser)
c.6157A>T (p.Thr2053Ser)
c.*5899A>T (n.*5899A>T)
c.755A>T
n.3341A>T
c.6268A>T (p.Thr2090Ser)
c.6184A>T (p.Thr2062Ser)
c.6154A>T (p.Thr2052Ser)
c.6106A>T (p.Thr2036Ser)
c.6067A>T (p.Thr2023Ser)
c.5992A>T (p.Thr1998Ser)
n.6613A>T
c.6181A>T (p.Thr2061Ser)
c.6151A>T (p.Thr2051Ser)
c.6103A>T (p.Thr2035Ser)
c.6070A>T (p.Thr2024Ser)
c.6040A>T (p.Thr2014Ser)
c.6037A>T (p.Thr2013Ser)
c.5989A>T (p.Thr1997Ser)
c.5953A>T (p.Thr1985Ser)
c.5950A>T (p.Thr1984Ser)
c.5905A>T (p.Thr1969Ser)
n.6570A>T
Xg.77574305T>CCA413701089ATRXc.6271A>G (p.Thr2091Ala)
c.1369A>G (p.Thr457Ala)
c.6157A>G (p.Thr2053Ala)
c.*5899A>G (n.*5899A>G)
c.755A>G
n.3341A>G
c.6268A>G (p.Thr2090Ala)
c.6184A>G (p.Thr2062Ala)
c.6154A>G (p.Thr2052Ala)
c.6106A>G (p.Thr2036Ala)
c.6067A>G (p.Thr2023Ala)
c.5992A>G (p.Thr1998Ala)
n.6613A>G
c.6181A>G (p.Thr2061Ala)
c.6151A>G (p.Thr2051Ala)
c.6103A>G (p.Thr2035Ala)
c.6070A>G (p.Thr2024Ala)
c.6040A>G (p.Thr2014Ala)
c.6037A>G (p.Thr2013Ala)
c.5989A>G (p.Thr1997Ala)
c.5953A>G (p.Thr1985Ala)
c.5950A>G (p.Thr1984Ala)
c.5905A>G (p.Thr1969Ala)
n.6570A>G
 ClinVar dbSNP
Xg.77574305T>GCA413701088ATRXc.6271A>C (p.Thr2091Pro)
c.1369A>C (p.Thr457Pro)
c.6157A>C (p.Thr2053Pro)
c.*5899A>C (n.*5899A>C)
c.755A>C
n.3341A>C
c.6268A>C (p.Thr2090Pro)
c.6184A>C (p.Thr2062Pro)
c.6154A>C (p.Thr2052Pro)
c.6106A>C (p.Thr2036Pro)
c.6067A>C (p.Thr2023Pro)
c.5992A>C (p.Thr1998Pro)
n.6613A>C
c.6181A>C (p.Thr2061Pro)
c.6151A>C (p.Thr2051Pro)
c.6103A>C (p.Thr2035Pro)
c.6070A>C (p.Thr2024Pro)
c.6040A>C (p.Thr2014Pro)
c.6037A>C (p.Thr2013Pro)
c.5989A>C (p.Thr1997Pro)
c.5953A>C (p.Thr1985Pro)
c.5950A>C (p.Thr1984Pro)
c.5905A>C (p.Thr1969Pro)
n.6570A>C
Xg.77574305T=CA2438951397ATRXc.6271A= (p.Thr2091=)
c.1369A= (p.Thr457=)
c.6157A= (p.Thr2053=)
c.*5899A= (n.*5899A=)
c.755A=
n.3341A=
c.6268A= (p.Thr2090=)
c.6184A= (p.Thr2062=)
c.6154A= (p.Thr2052=)
c.6106A= (p.Thr2036=)
c.6067A= (p.Thr2023=)
c.5992A= (p.Thr1998=)
n.6613A=
c.6181A= (p.Thr2061=)
c.6151A= (p.Thr2051=)
c.6103A= (p.Thr2035=)
c.6070A= (p.Thr2024=)
c.6040A= (p.Thr2014=)
c.6037A= (p.Thr2013=)
c.5989A= (p.Thr1997=)
c.5953A= (p.Thr1985=)
c.5950A= (p.Thr1984=)
c.5905A= (p.Thr1969=)
n.6570A=
Xg.77574306A>CCA517374785ATRXc.6270T>G (p.Thr2090=)
c.1368T>G (p.Thr456=)
c.6156T>G (p.Thr2052=)
c.*5898T>G (n.*5898T>G)
c.754T>G
n.3340T>G
c.6267T>G (p.Thr2089=)
c.6183T>G (p.Thr2061=)
c.6153T>G (p.Thr2051=)
c.6105T>G (p.Thr2035=)
c.6066T>G (p.Thr2022=)
c.5991T>G (p.Thr1997=)
n.6612T>G
c.6180T>G (p.Thr2060=)
c.6150T>G (p.Thr2050=)
c.6102T>G (p.Thr2034=)
c.6069T>G (p.Thr2023=)
c.6039T>G (p.Thr2013=)
c.6036T>G (p.Thr2012=)
c.5988T>G (p.Thr1996=)
c.5952T>G (p.Thr1984=)
c.5949T>G (p.Thr1983=)
c.5904T>G (p.Thr1968=)
n.6569T>G
Xg.77574306A>GCA517374786ATRXc.6270T>C (p.Thr2090=)
c.1368T>C (p.Thr456=)
c.6156T>C (p.Thr2052=)
c.*5898T>C (n.*5898T>C)
c.754T>C
n.3340T>C
c.6267T>C (p.Thr2089=)
c.6183T>C (p.Thr2061=)
c.6153T>C (p.Thr2051=)
c.6105T>C (p.Thr2035=)
c.6066T>C (p.Thr2022=)
c.5991T>C (p.Thr1997=)
n.6612T>C
c.6180T>C (p.Thr2060=)
c.6150T>C (p.Thr2050=)
c.6102T>C (p.Thr2034=)
c.6069T>C (p.Thr2023=)
c.6039T>C (p.Thr2013=)
c.6036T>C (p.Thr2012=)
c.5988T>C (p.Thr1996=)
c.5952T>C (p.Thr1984=)
c.5949T>C (p.Thr1983=)
c.5904T>C (p.Thr1968=)
n.6569T>C
Xg.77574306A>TCA517374787ATRXc.6270T>A (p.Thr2090=)
c.1368T>A (p.Thr456=)
c.6156T>A (p.Thr2052=)
c.*5898T>A (n.*5898T>A)
c.754T>A
n.3340T>A
c.6267T>A (p.Thr2089=)
c.6183T>A (p.Thr2061=)
c.6153T>A (p.Thr2051=)
c.6105T>A (p.Thr2035=)
c.6066T>A (p.Thr2022=)
c.5991T>A (p.Thr1997=)
n.6612T>A
c.6180T>A (p.Thr2060=)
c.6150T>A (p.Thr2050=)
c.6102T>A (p.Thr2034=)
c.6069T>A (p.Thr2023=)
c.6039T>A (p.Thr2013=)
c.6036T>A (p.Thr2012=)
c.5988T>A (p.Thr1996=)
c.5952T>A (p.Thr1984=)
c.5949T>A (p.Thr1983=)
c.5904T>A (p.Thr1968=)
n.6569T>A
Xg.77574307G>ACA10457521ATRXc.6269C>T (p.Thr2090Ile)
c.1367C>T (p.Thr456Ile)
c.6155C>T (p.Thr2052Ile)
c.*5897C>T (n.*5897C>T)
c.753C>T
n.3339C>T
c.6266C>T (p.Thr2089Ile)
c.6182C>T (p.Thr2061Ile)
c.6152C>T (p.Thr2051Ile)
c.6104C>T (p.Thr2035Ile)
c.6065C>T (p.Thr2022Ile)
c.5990C>T (p.Thr1997Ile)
n.6611C>T
c.6179C>T (p.Thr2060Ile)
c.6149C>T (p.Thr2050Ile)
c.6101C>T (p.Thr2034Ile)
c.6068C>T (p.Thr2023Ile)
c.6038C>T (p.Thr2013Ile)
c.6035C>T (p.Thr2012Ile)
c.5987C>T (p.Thr1996Ile)
c.5951C>T (p.Thr1984Ile)
c.5948C>T (p.Thr1983Ile)
c.5903C>T (p.Thr1968Ile)
n.6568C>T
 dbSNP ExAC gnomAD v4
Xg.77574307G>CCA413701096ATRXc.6269C>G (p.Thr2090Ser)
c.1367C>G (p.Thr456Ser)
c.6155C>G (p.Thr2052Ser)
c.*5897C>G (n.*5897C>G)
c.753C>G
n.3339C>G
c.6266C>G (p.Thr2089Ser)
c.6182C>G (p.Thr2061Ser)
c.6152C>G (p.Thr2051Ser)
c.6104C>G (p.Thr2035Ser)
c.6065C>G (p.Thr2022Ser)
c.5990C>G (p.Thr1997Ser)
n.6611C>G
c.6179C>G (p.Thr2060Ser)
c.6149C>G (p.Thr2050Ser)
c.6101C>G (p.Thr2034Ser)
c.6068C>G (p.Thr2023Ser)
c.6038C>G (p.Thr2013Ser)
c.6035C>G (p.Thr2012Ser)
c.5987C>G (p.Thr1996Ser)
c.5951C>G (p.Thr1984Ser)
c.5948C>G (p.Thr1983Ser)
c.5903C>G (p.Thr1968Ser)
n.6568C>G
Xg.77574307G=CA2438951398ATRXc.6269C= (p.Thr2090=)
c.1367C= (p.Thr456=)
c.6155C= (p.Thr2052=)
c.*5897C= (n.*5897C=)
c.753C=
n.3339C=
c.6266C= (p.Thr2089=)
c.6182C= (p.Thr2061=)
c.6152C= (p.Thr2051=)
c.6104C= (p.Thr2035=)
c.6065C= (p.Thr2022=)
c.5990C= (p.Thr1997=)
n.6611C=
c.6179C= (p.Thr2060=)
c.6149C= (p.Thr2050=)
c.6101C= (p.Thr2034=)
c.6068C= (p.Thr2023=)
c.6038C= (p.Thr2013=)
c.6035C= (p.Thr2012=)
c.5987C= (p.Thr1996=)
c.5951C= (p.Thr1984=)
c.5948C= (p.Thr1983=)
c.5903C= (p.Thr1968=)
n.6568C=
Xg.77574307G>TCA413701099ATRXc.6269C>A (p.Thr2090Asn)
c.1367C>A (p.Thr456Asn)
c.6155C>A (p.Thr2052Asn)
c.*5897C>A (n.*5897C>A)
c.753C>A
n.3339C>A
c.6266C>A (p.Thr2089Asn)
c.6182C>A (p.Thr2061Asn)
c.6152C>A (p.Thr2051Asn)
c.6104C>A (p.Thr2035Asn)
c.6065C>A (p.Thr2022Asn)
c.5990C>A (p.Thr1997Asn)
n.6611C>A
c.6179C>A (p.Thr2060Asn)
c.6149C>A (p.Thr2050Asn)
c.6101C>A (p.Thr2034Asn)
c.6068C>A (p.Thr2023Asn)
c.6038C>A (p.Thr2013Asn)
c.6035C>A (p.Thr2012Asn)
c.5987C>A (p.Thr1996Asn)
c.5951C>A (p.Thr1984Asn)
c.5948C>A (p.Thr1983Asn)
c.5903C>A (p.Thr1968Asn)
n.6568C>A
Xg.77574308T>ACA413701100ATRXc.6268A>T (p.Thr2090Ser)
c.1366A>T (p.Thr456Ser)
c.6154A>T (p.Thr2052Ser)
c.*5896A>T (n.*5896A>T)
c.752A>T
n.3338A>T
c.6265A>T (p.Thr2089Ser)
c.6181A>T (p.Thr2061Ser)
c.6151A>T (p.Thr2051Ser)
c.6103A>T (p.Thr2035Ser)
c.6064A>T (p.Thr2022Ser)
c.5989A>T (p.Thr1997Ser)
n.6610A>T
c.6178A>T (p.Thr2060Ser)
c.6148A>T (p.Thr2050Ser)
c.6100A>T (p.Thr2034Ser)
c.6067A>T (p.Thr2023Ser)
c.6037A>T (p.Thr2013Ser)
c.6034A>T (p.Thr2012Ser)
c.5986A>T (p.Thr1996Ser)
c.5950A>T (p.Thr1984Ser)
c.5947A>T (p.Thr1983Ser)
c.5902A>T (p.Thr1968Ser)
n.6567A>T
Xg.77574308T>CCA413701103ATRXc.6268A>G (p.Thr2090Ala)
c.1366A>G (p.Thr456Ala)
c.6154A>G (p.Thr2052Ala)
c.*5896A>G (n.*5896A>G)
c.752A>G
n.3338A>G
c.6265A>G (p.Thr2089Ala)
c.6181A>G (p.Thr2061Ala)
c.6151A>G (p.Thr2051Ala)
c.6103A>G (p.Thr2035Ala)
c.6064A>G (p.Thr2022Ala)
c.5989A>G (p.Thr1997Ala)
n.6610A>G
c.6178A>G (p.Thr2060Ala)
c.6148A>G (p.Thr2050Ala)
c.6100A>G (p.Thr2034Ala)
c.6067A>G (p.Thr2023Ala)
c.6037A>G (p.Thr2013Ala)
c.6034A>G (p.Thr2012Ala)
c.5986A>G (p.Thr1996Ala)
c.5950A>G (p.Thr1984Ala)
c.5947A>G (p.Thr1983Ala)
c.5902A>G (p.Thr1968Ala)
n.6567A>G
 gnomAD v4
Xg.77574308T>GCA413701106ATRXc.6268A>C (p.Thr2090Pro)
c.1366A>C (p.Thr456Pro)
c.6154A>C (p.Thr2052Pro)
c.*5896A>C (n.*5896A>C)
c.752A>C
n.3338A>C
c.6265A>C (p.Thr2089Pro)
c.6181A>C (p.Thr2061Pro)
c.6151A>C (p.Thr2051Pro)
c.6103A>C (p.Thr2035Pro)
c.6064A>C (p.Thr2022Pro)
c.5989A>C (p.Thr1997Pro)
n.6610A>C
c.6178A>C (p.Thr2060Pro)
c.6148A>C (p.Thr2050Pro)
c.6100A>C (p.Thr2034Pro)
c.6067A>C (p.Thr2023Pro)
c.6037A>C (p.Thr2013Pro)
c.6034A>C (p.Thr2012Pro)
c.5986A>C (p.Thr1996Pro)
c.5950A>C (p.Thr1984Pro)
c.5947A>C (p.Thr1983Pro)
c.5902A>C (p.Thr1968Pro)
n.6567A>C
Xg.77574309G>ACA517374788ATRXc.6267C>T (p.Ser2089=)
c.1365C>T (p.Ser455=)
c.6153C>T (p.Ser2051=)
c.*5895C>T (n.*5895C>T)
c.751C>T
n.3337C>T
c.6264C>T (p.Ser2088=)
c.6180C>T (p.Ser2060=)
c.6150C>T (p.Ser2050=)
c.6102C>T (p.Ser2034=)
c.6063C>T (p.Ser2021=)
c.5988C>T (p.Ser1996=)
n.6609C>T
c.6177C>T (p.Ser2059=)
c.6147C>T (p.Ser2049=)
c.6099C>T (p.Ser2033=)
c.6066C>T (p.Ser2022=)
c.6036C>T (p.Ser2012=)
c.6033C>T (p.Ser2011=)
c.5985C>T (p.Ser1995=)
c.5949C>T (p.Ser1983=)
c.5946C>T (p.Ser1982=)
c.5901C>T (p.Ser1967=)
n.6566C>T
 ClinVar dbSNP
Xg.77574309G>CCA517374790ATRXc.6267C>G (p.Ser2089=)
c.1365C>G (p.Ser455=)
c.6153C>G (p.Ser2051=)
c.*5895C>G (n.*5895C>G)
c.751C>G
n.3337C>G
c.6264C>G (p.Ser2088=)
c.6180C>G (p.Ser2060=)
c.6150C>G (p.Ser2050=)
c.6102C>G (p.Ser2034=)
c.6063C>G (p.Ser2021=)
c.5988C>G (p.Ser1996=)
n.6609C>G
c.6177C>G (p.Ser2059=)
c.6147C>G (p.Ser2049=)
c.6099C>G (p.Ser2033=)
c.6066C>G (p.Ser2022=)
c.6036C>G (p.Ser2012=)
c.6033C>G (p.Ser2011=)
c.5985C>G (p.Ser1995=)
c.5949C>G (p.Ser1983=)
c.5946C>G (p.Ser1982=)
c.5901C>G (p.Ser1967=)
n.6566C>G
Xg.77574309G>TCA517374791ATRXc.6267C>A (p.Ser2089=)
c.1365C>A (p.Ser455=)
c.6153C>A (p.Ser2051=)
c.*5895C>A (n.*5895C>A)
c.751C>A
n.3337C>A
c.6264C>A (p.Ser2088=)
c.6180C>A (p.Ser2060=)
c.6150C>A (p.Ser2050=)
c.6102C>A (p.Ser2034=)
c.6063C>A (p.Ser2021=)
c.5988C>A (p.Ser1996=)
n.6609C>A
c.6177C>A (p.Ser2059=)
c.6147C>A (p.Ser2049=)
c.6099C>A (p.Ser2033=)
c.6066C>A (p.Ser2022=)
c.6036C>A (p.Ser2012=)
c.6033C>A (p.Ser2011=)
c.5985C>A (p.Ser1995=)
c.5949C>A (p.Ser1983=)
c.5946C>A (p.Ser1982=)
c.5901C>A (p.Ser1967=)
n.6566C>A
Xg.77574310G>ACA413701113ATRXc.6266C>T (p.Ser2089Phe)
c.1364C>T (p.Ser455Phe)
c.6152C>T (p.Ser2051Phe)
c.*5894C>T (n.*5894C>T)
c.750C>T
n.3336C>T
c.6263C>T (p.Ser2088Phe)
c.6179C>T (p.Ser2060Phe)
c.6149C>T (p.Ser2050Phe)
c.6101C>T (p.Ser2034Phe)
c.6062C>T (p.Ser2021Phe)
c.5987C>T (p.Ser1996Phe)
n.6608C>T
c.6176C>T (p.Ser2059Phe)
c.6146C>T (p.Ser2049Phe)
c.6098C>T (p.Ser2033Phe)
c.6065C>T (p.Ser2022Phe)
c.6035C>T (p.Ser2012Phe)
c.6032C>T (p.Ser2011Phe)
c.5984C>T (p.Ser1995Phe)
c.5948C>T (p.Ser1983Phe)
c.5945C>T (p.Ser1982Phe)
c.5900C>T (p.Ser1967Phe)
n.6565C>T
 COSMIC COSMIC
Xg.77574310G>CCA413701116ATRXc.6266C>G (p.Ser2089Cys)
c.1364C>G (p.Ser455Cys)
c.6152C>G (p.Ser2051Cys)
c.*5894C>G (n.*5894C>G)
c.750C>G
n.3336C>G
c.6263C>G (p.Ser2088Cys)
c.6179C>G (p.Ser2060Cys)
c.6149C>G (p.Ser2050Cys)
c.6101C>G (p.Ser2034Cys)
c.6062C>G (p.Ser2021Cys)
c.5987C>G (p.Ser1996Cys)
n.6608C>G
c.6176C>G (p.Ser2059Cys)
c.6146C>G (p.Ser2049Cys)
c.6098C>G (p.Ser2033Cys)
c.6065C>G (p.Ser2022Cys)
c.6035C>G (p.Ser2012Cys)
c.6032C>G (p.Ser2011Cys)
c.5984C>G (p.Ser1995Cys)
c.5948C>G (p.Ser1983Cys)
c.5945C>G (p.Ser1982Cys)
c.5900C>G (p.Ser1967Cys)
n.6565C>G
Xg.77574310G>TCA413701114ATRXc.6266C>A (p.Ser2089Tyr)
c.1364C>A (p.Ser455Tyr)
c.6152C>A (p.Ser2051Tyr)
c.*5894C>A (n.*5894C>A)
c.750C>A
n.3336C>A
c.6263C>A (p.Ser2088Tyr)
c.6179C>A (p.Ser2060Tyr)
c.6149C>A (p.Ser2050Tyr)
c.6101C>A (p.Ser2034Tyr)
c.6062C>A (p.Ser2021Tyr)
c.5987C>A (p.Ser1996Tyr)
n.6608C>A
c.6176C>A (p.Ser2059Tyr)
c.6146C>A (p.Ser2049Tyr)
c.6098C>A (p.Ser2033Tyr)
c.6065C>A (p.Ser2022Tyr)
c.6035C>A (p.Ser2012Tyr)
c.6032C>A (p.Ser2011Tyr)
c.5984C>A (p.Ser1995Tyr)
c.5948C>A (p.Ser1983Tyr)
c.5945C>A (p.Ser1982Tyr)
c.5900C>A (p.Ser1967Tyr)
n.6565C>A
Xg.77574311A>CCA413701118ATRXc.6265T>G (p.Ser2089Ala)
n.100T>G
c.1363T>G (p.Ser455Ala)
c.6151T>G (p.Ser2051Ala)
c.*5893T>G (n.*5893T>G)
c.749T>G
n.3335T>G
c.6262T>G (p.Ser2088Ala)
c.6178T>G (p.Ser2060Ala)
c.6148T>G (p.Ser2050Ala)
c.6100T>G (p.Ser2034Ala)
c.6061T>G (p.Ser2021Ala)
c.5986T>G (p.Ser1996Ala)
n.6607T>G
c.6175T>G (p.Ser2059Ala)
c.6145T>G (p.Ser2049Ala)
c.6097T>G (p.Ser2033Ala)
c.6064T>G (p.Ser2022Ala)
c.6034T>G (p.Ser2012Ala)
c.6031T>G (p.Ser2011Ala)
c.5983T>G (p.Ser1995Ala)
c.5947T>G (p.Ser1983Ala)
c.5944T>G (p.Ser1982Ala)
c.5899T>G (p.Ser1967Ala)
n.6564T>G
Xg.77574311A>GCA413701121ATRXc.6265T>C (p.Ser2089Pro)
n.100T>C
c.1363T>C (p.Ser455Pro)
c.6151T>C (p.Ser2051Pro)
c.*5893T>C (n.*5893T>C)
c.749T>C
n.3335T>C
c.6262T>C (p.Ser2088Pro)
c.6178T>C (p.Ser2060Pro)
c.6148T>C (p.Ser2050Pro)
c.6100T>C (p.Ser2034Pro)
c.6061T>C (p.Ser2021Pro)
c.5986T>C (p.Ser1996Pro)
n.6607T>C
c.6175T>C (p.Ser2059Pro)
c.6145T>C (p.Ser2049Pro)
c.6097T>C (p.Ser2033Pro)
c.6064T>C (p.Ser2022Pro)
c.6034T>C (p.Ser2012Pro)
c.6031T>C (p.Ser2011Pro)
c.5983T>C (p.Ser1995Pro)
c.5947T>C (p.Ser1983Pro)
c.5944T>C (p.Ser1982Pro)
c.5899T>C (p.Ser1967Pro)
n.6564T>C
Xg.77574311A>TCA413701123ATRXc.6265T>A (p.Ser2089Thr)
n.100T>A
c.1363T>A (p.Ser455Thr)
c.6151T>A (p.Ser2051Thr)
c.*5893T>A (n.*5893T>A)
c.749T>A
n.3335T>A
c.6262T>A (p.Ser2088Thr)
c.6178T>A (p.Ser2060Thr)
c.6148T>A (p.Ser2050Thr)
c.6100T>A (p.Ser2034Thr)
c.6061T>A (p.Ser2021Thr)
c.5986T>A (p.Ser1996Thr)
n.6607T>A
c.6175T>A (p.Ser2059Thr)
c.6145T>A (p.Ser2049Thr)
c.6097T>A (p.Ser2033Thr)
c.6064T>A (p.Ser2022Thr)
c.6034T>A (p.Ser2012Thr)
c.6031T>A (p.Ser2011Thr)
c.5983T>A (p.Ser1995Thr)
c.5947T>A (p.Ser1983Thr)
c.5944T>A (p.Ser1982Thr)
c.5899T>A (p.Ser1967Thr)
n.6564T>A
Xg.77574312A>CCA517374793ATRXc.6264T>G (p.Gly2088=)
n.99T>G
c.1362T>G (p.Gly454=)
c.6150T>G (p.Gly2050=)
c.*5892T>G (n.*5892T>G)
c.748T>G
n.3334T>G
c.6261T>G (p.Gly2087=)
c.6177T>G (p.Gly2059=)
c.6147T>G (p.Gly2049=)
c.6099T>G (p.Gly2033=)
c.6060T>G (p.Gly2020=)
c.5985T>G (p.Gly1995=)
n.6606T>G
c.6174T>G (p.Gly2058=)
c.6144T>G (p.Gly2048=)
c.6096T>G (p.Gly2032=)
c.6063T>G (p.Gly2021=)
c.6033T>G (p.Gly2011=)
c.6030T>G (p.Gly2010=)
c.5982T>G (p.Gly1994=)
c.5946T>G (p.Gly1982=)
c.5943T>G (p.Gly1981=)
c.5898T>G (p.Gly1966=)
n.6563T>G
Xg.77574312A>GCA517374794ATRXc.6264T>C (p.Gly2088=)
n.99T>C
c.1362T>C (p.Gly454=)
c.6150T>C (p.Gly2050=)
c.*5892T>C (n.*5892T>C)
c.748T>C
n.3334T>C
c.6261T>C (p.Gly2087=)
c.6177T>C (p.Gly2059=)
c.6147T>C (p.Gly2049=)
c.6099T>C (p.Gly2033=)
c.6060T>C (p.Gly2020=)
c.5985T>C (p.Gly1995=)
n.6606T>C
c.6174T>C (p.Gly2058=)
c.6144T>C (p.Gly2048=)
c.6096T>C (p.Gly2032=)
c.6063T>C (p.Gly2021=)
c.6033T>C (p.Gly2011=)
c.6030T>C (p.Gly2010=)
c.5982T>C (p.Gly1994=)
c.5946T>C (p.Gly1982=)
c.5943T>C (p.Gly1981=)
c.5898T>C (p.Gly1966=)
n.6563T>C
 gnomAD v4
Xg.77574312A>TCA517374795ATRXc.6264T>A (p.Gly2088=)
n.99T>A
c.1362T>A (p.Gly454=)
c.6150T>A (p.Gly2050=)
c.*5892T>A (n.*5892T>A)
c.748T>A
n.3334T>A
c.6261T>A (p.Gly2087=)
c.6177T>A (p.Gly2059=)
c.6147T>A (p.Gly2049=)
c.6099T>A (p.Gly2033=)
c.6060T>A (p.Gly2020=)
c.5985T>A (p.Gly1995=)
n.6606T>A
c.6174T>A (p.Gly2058=)
c.6144T>A (p.Gly2048=)
c.6096T>A (p.Gly2032=)
c.6063T>A (p.Gly2021=)
c.6033T>A (p.Gly2011=)
c.6030T>A (p.Gly2010=)
c.5982T>A (p.Gly1994=)
c.5946T>A (p.Gly1982=)
c.5943T>A (p.Gly1981=)
c.5898T>A (p.Gly1966=)
n.6563T>A
Xg.77574313C>ACA413701125ATRXc.6263G>T (p.Gly2088Val)
n.98G>T
c.1361G>T (p.Gly454Val)
c.6149G>T (p.Gly2050Val)
c.*5891G>T (n.*5891G>T)
c.747G>T
n.3333G>T
c.6260G>T (p.Gly2087Val)
c.6176G>T (p.Gly2059Val)
c.6146G>T (p.Gly2049Val)
c.6098G>T (p.Gly2033Val)
c.6059G>T (p.Gly2020Val)
c.5984G>T (p.Gly1995Val)
n.6605G>T
c.6173G>T (p.Gly2058Val)
c.6143G>T (p.Gly2048Val)
c.6095G>T (p.Gly2032Val)
c.6062G>T (p.Gly2021Val)
c.6032G>T (p.Gly2011Val)
c.6029G>T (p.Gly2010Val)
c.5981G>T (p.Gly1994Val)
c.5945G>T (p.Gly1982Val)
c.5942G>T (p.Gly1981Val)
c.5897G>T (p.Gly1966Val)
n.6562G>T
Xg.77574313C>GCA413701127ATRXc.6263G>C (p.Gly2088Ala)
n.98G>C
c.1361G>C (p.Gly454Ala)
c.6149G>C (p.Gly2050Ala)
c.*5891G>C (n.*5891G>C)
c.747G>C
n.3333G>C
c.6260G>C (p.Gly2087Ala)
c.6176G>C (p.Gly2059Ala)
c.6146G>C (p.Gly2049Ala)
c.6098G>C (p.Gly2033Ala)
c.6059G>C (p.Gly2020Ala)
c.5984G>C (p.Gly1995Ala)
n.6605G>C
c.6173G>C (p.Gly2058Ala)
c.6143G>C (p.Gly2048Ala)
c.6095G>C (p.Gly2032Ala)
c.6062G>C (p.Gly2021Ala)
c.6032G>C (p.Gly2011Ala)
c.6029G>C (p.Gly2010Ala)
c.5981G>C (p.Gly1994Ala)
c.5945G>C (p.Gly1982Ala)
c.5942G>C (p.Gly1981Ala)
c.5897G>C (p.Gly1966Ala)
n.6562G>C
Xg.77574313C>TCA413701129ATRXc.6263G>A (p.Gly2088Asp)
n.98G>A
c.1361G>A (p.Gly454Asp)
c.6149G>A (p.Gly2050Asp)
c.*5891G>A (n.*5891G>A)
c.747G>A
n.3333G>A
c.6260G>A (p.Gly2087Asp)
c.6176G>A (p.Gly2059Asp)
c.6146G>A (p.Gly2049Asp)
c.6098G>A (p.Gly2033Asp)
c.6059G>A (p.Gly2020Asp)
c.5984G>A (p.Gly1995Asp)
n.6605G>A
c.6173G>A (p.Gly2058Asp)
c.6143G>A (p.Gly2048Asp)
c.6095G>A (p.Gly2032Asp)
c.6062G>A (p.Gly2021Asp)
c.6032G>A (p.Gly2011Asp)
c.6029G>A (p.Gly2010Asp)
c.5981G>A (p.Gly1994Asp)
c.5945G>A (p.Gly1982Asp)
c.5942G>A (p.Gly1981Asp)
c.5897G>A (p.Gly1966Asp)
n.6562G>A
Xg.77574314C>ACA413701131ATRXc.6262G>T (p.Gly2088Cys)
n.97G>T
c.1360G>T (p.Gly454Cys)
c.6148G>T (p.Gly2050Cys)
c.*5890G>T (n.*5890G>T)
c.746G>T
n.3332G>T
c.6259G>T (p.Gly2087Cys)
c.6175G>T (p.Gly2059Cys)
c.6145G>T (p.Gly2049Cys)
c.6097G>T (p.Gly2033Cys)
c.6058G>T (p.Gly2020Cys)
c.5983G>T (p.Gly1995Cys)
n.6604G>T
c.6172G>T (p.Gly2058Cys)
c.6142G>T (p.Gly2048Cys)
c.6094G>T (p.Gly2032Cys)
c.6061G>T (p.Gly2021Cys)
c.6031G>T (p.Gly2011Cys)
c.6028G>T (p.Gly2010Cys)
c.5980G>T (p.Gly1994Cys)
c.5944G>T (p.Gly1982Cys)
c.5941G>T (p.Gly1981Cys)
c.5896G>T (p.Gly1966Cys)
n.6561G>T
Xg.77574314C>GCA413701133ATRXc.6262G>C (p.Gly2088Arg)
n.97G>C
c.1360G>C (p.Gly454Arg)
c.6148G>C (p.Gly2050Arg)
c.*5890G>C (n.*5890G>C)
c.746G>C
n.3332G>C
c.6259G>C (p.Gly2087Arg)
c.6175G>C (p.Gly2059Arg)
c.6145G>C (p.Gly2049Arg)
c.6097G>C (p.Gly2033Arg)
c.6058G>C (p.Gly2020Arg)
c.5983G>C (p.Gly1995Arg)
n.6604G>C
c.6172G>C (p.Gly2058Arg)
c.6142G>C (p.Gly2048Arg)
c.6094G>C (p.Gly2032Arg)
c.6061G>C (p.Gly2021Arg)
c.6031G>C (p.Gly2011Arg)
c.6028G>C (p.Gly2010Arg)
c.5980G>C (p.Gly1994Arg)
c.5944G>C (p.Gly1982Arg)
c.5941G>C (p.Gly1981Arg)
c.5896G>C (p.Gly1966Arg)
n.6561G>C
Xg.77574314C>TCA413701135ATRXc.6262G>A (p.Gly2088Ser)
n.97G>A
c.1360G>A (p.Gly454Ser)
c.6148G>A (p.Gly2050Ser)
c.*5890G>A (n.*5890G>A)
c.746G>A
n.3332G>A
c.6259G>A (p.Gly2087Ser)
c.6175G>A (p.Gly2059Ser)
c.6145G>A (p.Gly2049Ser)
c.6097G>A (p.Gly2033Ser)
c.6058G>A (p.Gly2020Ser)
c.5983G>A (p.Gly1995Ser)
n.6604G>A
c.6172G>A (p.Gly2058Ser)
c.6142G>A (p.Gly2048Ser)
c.6094G>A (p.Gly2032Ser)
c.6061G>A (p.Gly2021Ser)
c.6031G>A (p.Gly2011Ser)
c.6028G>A (p.Gly2010Ser)
c.5980G>A (p.Gly1994Ser)
c.5944G>A (p.Gly1982Ser)
c.5941G>A (p.Gly1981Ser)
c.5896G>A (p.Gly1966Ser)
n.6561G>A
Xg.77574315A>CCA413701137ATRXc.6261T>G (p.Asp2087Glu)
n.96T>G
c.1359T>G (p.Asp453Glu)
c.6147T>G (p.Asp2049Glu)
c.*5889T>G (n.*5889T>G)
c.745T>G
n.3331T>G
c.6258T>G (p.Asp2086Glu)
c.6174T>G (p.Asp2058Glu)
c.6144T>G (p.Asp2048Glu)
c.6096T>G (p.Asp2032Glu)
c.6057T>G (p.Asp2019Glu)
c.5982T>G (p.Asp1994Glu)
n.6603T>G
c.6171T>G (p.Asp2057Glu)
c.6141T>G (p.Asp2047Glu)
c.6093T>G (p.Asp2031Glu)
c.6060T>G (p.Asp2020Glu)
c.6030T>G (p.Asp2010Glu)
c.6027T>G (p.Asp2009Glu)
c.5979T>G (p.Asp1993Glu)
c.5943T>G (p.Asp1981Glu)
c.5940T>G (p.Asp1980Glu)
c.5895T>G (p.Asp1965Glu)
n.6560T>G
Xg.77574315A>GCA517374796ATRXc.6261T>C (p.Asp2087=)
n.96T>C
c.1359T>C (p.Asp453=)
c.6147T>C (p.Asp2049=)
c.*5889T>C (n.*5889T>C)
c.745T>C
n.3331T>C
c.6258T>C (p.Asp2086=)
c.6174T>C (p.Asp2058=)
c.6144T>C (p.Asp2048=)
c.6096T>C (p.Asp2032=)
c.6057T>C (p.Asp2019=)
c.5982T>C (p.Asp1994=)
n.6603T>C
c.6171T>C (p.Asp2057=)
c.6141T>C (p.Asp2047=)
c.6093T>C (p.Asp2031=)
c.6060T>C (p.Asp2020=)
c.6030T>C (p.Asp2010=)
c.6027T>C (p.Asp2009=)
c.5979T>C (p.Asp1993=)
c.5943T>C (p.Asp1981=)
c.5940T>C (p.Asp1980=)
c.5895T>C (p.Asp1965=)
n.6560T>C
Xg.77574315A>TCA413701139ATRXc.6261T>A (p.Asp2087Glu)
n.96T>A
c.1359T>A (p.Asp453Glu)
c.6147T>A (p.Asp2049Glu)
c.*5889T>A (n.*5889T>A)
c.745T>A
n.3331T>A
c.6258T>A (p.Asp2086Glu)
c.6174T>A (p.Asp2058Glu)
c.6144T>A (p.Asp2048Glu)
c.6096T>A (p.Asp2032Glu)
c.6057T>A (p.Asp2019Glu)
c.5982T>A (p.Asp1994Glu)
n.6603T>A
c.6171T>A (p.Asp2057Glu)
c.6141T>A (p.Asp2047Glu)
c.6093T>A (p.Asp2031Glu)
c.6060T>A (p.Asp2020Glu)
c.6030T>A (p.Asp2010Glu)
c.6027T>A (p.Asp2009Glu)
c.5979T>A (p.Asp1993Glu)
c.5943T>A (p.Asp1981Glu)
c.5940T>A (p.Asp1980Glu)
c.5895T>A (p.Asp1965Glu)
n.6560T>A
Xg.77574316T>ACA413701146ATRXc.6260A>T (p.Asp2087Val)
n.95A>T
c.1358A>T (p.Asp453Val)
c.6146A>T (p.Asp2049Val)
c.*5888A>T (n.*5888A>T)
c.744A>T
n.3330A>T
c.6257A>T (p.Asp2086Val)
c.6173A>T (p.Asp2058Val)
c.6143A>T (p.Asp2048Val)
c.6095A>T (p.Asp2032Val)
c.6056A>T (p.Asp2019Val)
c.5981A>T (p.Asp1994Val)
n.6602A>T
c.6170A>T (p.Asp2057Val)
c.6140A>T (p.Asp2047Val)
c.6092A>T (p.Asp2031Val)
c.6059A>T (p.Asp2020Val)
c.6029A>T (p.Asp2010Val)
c.6026A>T (p.Asp2009Val)
c.5978A>T (p.Asp1993Val)
c.5942A>T (p.Asp1981Val)
c.5939A>T (p.Asp1980Val)
c.5894A>T (p.Asp1965Val)
n.6559A>T
Xg.77574316T>CCA413701144ATRXc.6260A>G (p.Asp2087Gly)
n.95A>G
c.1358A>G (p.Asp453Gly)
c.6146A>G (p.Asp2049Gly)
c.*5888A>G (n.*5888A>G)
c.744A>G
n.3330A>G
c.6257A>G (p.Asp2086Gly)
c.6173A>G (p.Asp2058Gly)
c.6143A>G (p.Asp2048Gly)
c.6095A>G (p.Asp2032Gly)
c.6056A>G (p.Asp2019Gly)
c.5981A>G (p.Asp1994Gly)
n.6602A>G
c.6170A>G (p.Asp2057Gly)
c.6140A>G (p.Asp2047Gly)
c.6092A>G (p.Asp2031Gly)
c.6059A>G (p.Asp2020Gly)
c.6029A>G (p.Asp2010Gly)
c.6026A>G (p.Asp2009Gly)
c.5978A>G (p.Asp1993Gly)
c.5942A>G (p.Asp1981Gly)
c.5939A>G (p.Asp1980Gly)
c.5894A>G (p.Asp1965Gly)
n.6559A>G
Xg.77574316T>GCA413701142ATRXc.6260A>C (p.Asp2087Ala)
n.95A>C
c.1358A>C (p.Asp453Ala)
c.6146A>C (p.Asp2049Ala)
c.*5888A>C (n.*5888A>C)
c.744A>C
n.3330A>C
c.6257A>C (p.Asp2086Ala)
c.6173A>C (p.Asp2058Ala)
c.6143A>C (p.Asp2048Ala)
c.6095A>C (p.Asp2032Ala)
c.6056A>C (p.Asp2019Ala)
c.5981A>C (p.Asp1994Ala)
n.6602A>C
c.6170A>C (p.Asp2057Ala)
c.6140A>C (p.Asp2047Ala)
c.6092A>C (p.Asp2031Ala)
c.6059A>C (p.Asp2020Ala)
c.6029A>C (p.Asp2010Ala)
c.6026A>C (p.Asp2009Ala)
c.5978A>C (p.Asp1993Ala)
c.5942A>C (p.Asp1981Ala)
c.5939A>C (p.Asp1980Ala)
c.5894A>C (p.Asp1965Ala)
n.6559A>C
Xg.77574317C>ACA413701149ATRXc.6259G>T (p.Asp2087Tyr)
n.94G>T
c.1357G>T (p.Asp453Tyr)
c.6145G>T (p.Asp2049Tyr)
c.*5887G>T (n.*5887G>T)
c.743G>T
n.3329G>T
c.6256G>T (p.Asp2086Tyr)
c.6172G>T (p.Asp2058Tyr)
c.6142G>T (p.Asp2048Tyr)
c.6094G>T (p.Asp2032Tyr)
c.6055G>T (p.Asp2019Tyr)
c.5980G>T (p.Asp1994Tyr)
n.6601G>T
c.6169G>T (p.Asp2057Tyr)
c.6139G>T (p.Asp2047Tyr)
c.6091G>T (p.Asp2031Tyr)
c.6058G>T (p.Asp2020Tyr)
c.6028G>T (p.Asp2010Tyr)
c.6025G>T (p.Asp2009Tyr)
c.5977G>T (p.Asp1993Tyr)
c.5941G>T (p.Asp1981Tyr)
c.5938G>T (p.Asp1980Tyr)
c.5893G>T (p.Asp1965Tyr)
n.6558G>T
Xg.77574317C>GCA413701152ATRXc.6259G>C (p.Asp2087His)
n.94G>C
c.1357G>C (p.Asp453His)
c.6145G>C (p.Asp2049His)
c.*5887G>C (n.*5887G>C)
c.743G>C
n.3329G>C
c.6256G>C (p.Asp2086His)
c.6172G>C (p.Asp2058His)
c.6142G>C (p.Asp2048His)
c.6094G>C (p.Asp2032His)
c.6055G>C (p.Asp2019His)
c.5980G>C (p.Asp1994His)
n.6601G>C
c.6169G>C (p.Asp2057His)
c.6139G>C (p.Asp2047His)
c.6091G>C (p.Asp2031His)
c.6058G>C (p.Asp2020His)
c.6028G>C (p.Asp2010His)
c.6025G>C (p.Asp2009His)
c.5977G>C (p.Asp1993His)
c.5941G>C (p.Asp1981His)
c.5938G>C (p.Asp1980His)
c.5893G>C (p.Asp1965His)
n.6558G>C
Xg.77574317C>TCA413701150ATRXc.6259G>A (p.Asp2087Asn)
n.94G>A
c.1357G>A (p.Asp453Asn)
c.6145G>A (p.Asp2049Asn)
c.*5887G>A (n.*5887G>A)
c.743G>A
n.3329G>A
c.6256G>A (p.Asp2086Asn)
c.6172G>A (p.Asp2058Asn)
c.6142G>A (p.Asp2048Asn)
c.6094G>A (p.Asp2032Asn)
c.6055G>A (p.Asp2019Asn)
c.5980G>A (p.Asp1994Asn)
n.6601G>A
c.6169G>A (p.Asp2057Asn)
c.6139G>A (p.Asp2047Asn)
c.6091G>A (p.Asp2031Asn)
c.6058G>A (p.Asp2020Asn)
c.6028G>A (p.Asp2010Asn)
c.6025G>A (p.Asp2009Asn)
c.5977G>A (p.Asp1993Asn)
c.5941G>A (p.Asp1981Asn)
c.5938G>A (p.Asp1980Asn)
c.5893G>A (p.Asp1965Asn)
n.6558G>A
Xg.77574318T>ACA413701155ATRXc.6258A>T (p.Leu2086Phe)
n.93A>T
c.1356A>T (p.Leu452Phe)
c.6144A>T (p.Leu2048Phe)
c.*5886A>T (n.*5886A>T)
c.742A>T
n.3328A>T
c.6255A>T (p.Leu2085Phe)
c.6171A>T (p.Leu2057Phe)
c.6141A>T (p.Leu2047Phe)
c.6093A>T (p.Leu2031Phe)
c.6054A>T (p.Leu2018Phe)
c.5979A>T (p.Leu1993Phe)
n.6600A>T
c.6168A>T (p.Leu2056Phe)
c.6138A>T (p.Leu2046Phe)
c.6090A>T (p.Leu2030Phe)
c.6057A>T (p.Leu2019Phe)
c.6027A>T (p.Leu2009Phe)
c.6024A>T (p.Leu2008Phe)
c.5976A>T (p.Leu1992Phe)
c.5940A>T (p.Leu1980Phe)
c.5937A>T (p.Leu1979Phe)
c.5892A>T (p.Leu1964Phe)
n.6557A>T
Xg.77574318T>CCA517374798ATRXc.6258A>G (p.Leu2086=)
n.93A>G
c.1356A>G (p.Leu452=)
c.6144A>G (p.Leu2048=)
c.*5886A>G (n.*5886A>G)
c.742A>G
n.3328A>G
c.6255A>G (p.Leu2085=)
c.6171A>G (p.Leu2057=)
c.6141A>G (p.Leu2047=)
c.6093A>G (p.Leu2031=)
c.6054A>G (p.Leu2018=)
c.5979A>G (p.Leu1993=)
n.6600A>G
c.6168A>G (p.Leu2056=)
c.6138A>G (p.Leu2046=)
c.6090A>G (p.Leu2030=)
c.6057A>G (p.Leu2019=)
c.6027A>G (p.Leu2009=)
c.6024A>G (p.Leu2008=)
c.5976A>G (p.Leu1992=)
c.5940A>G (p.Leu1980=)
c.5937A>G (p.Leu1979=)
c.5892A>G (p.Leu1964=)
n.6557A>G
 gnomAD v4
Xg.77574318T>GCA413701157ATRXc.6258A>C (p.Leu2086Phe)
n.93A>C
c.1356A>C (p.Leu452Phe)
c.6144A>C (p.Leu2048Phe)
c.*5886A>C (n.*5886A>C)
c.742A>C
n.3328A>C
c.6255A>C (p.Leu2085Phe)
c.6171A>C (p.Leu2057Phe)
c.6141A>C (p.Leu2047Phe)
c.6093A>C (p.Leu2031Phe)
c.6054A>C (p.Leu2018Phe)
c.5979A>C (p.Leu1993Phe)
n.6600A>C
c.6168A>C (p.Leu2056Phe)
c.6138A>C (p.Leu2046Phe)
c.6090A>C (p.Leu2030Phe)
c.6057A>C (p.Leu2019Phe)
c.6027A>C (p.Leu2009Phe)
c.6024A>C (p.Leu2008Phe)
c.5976A>C (p.Leu1992Phe)
c.5940A>C (p.Leu1980Phe)
c.5937A>C (p.Leu1979Phe)
c.5892A>C (p.Leu1964Phe)
n.6557A>C
Xg.77574319A>CCA413701159ATRXc.6257T>G (p.Leu2086Ter)
n.92T>G
c.1355T>G (p.Leu452Ter)
c.6143T>G (p.Leu2048Ter)
c.*5885T>G (n.*5885T>G)
c.741T>G
n.3327T>G
c.6254T>G (p.Leu2085Ter)
c.6170T>G (p.Leu2057Ter)
c.6140T>G (p.Leu2047Ter)
c.6092T>G (p.Leu2031Ter)
c.6053T>G (p.Leu2018Ter)
c.5978T>G (p.Leu1993Ter)
n.6599T>G
c.6167T>G (p.Leu2056Ter)
c.6137T>G (p.Leu2046Ter)
c.6089T>G (p.Leu2030Ter)
c.6056T>G (p.Leu2019Ter)
c.6026T>G (p.Leu2009Ter)
c.6023T>G (p.Leu2008Ter)
c.5975T>G (p.Leu1992Ter)
c.5939T>G (p.Leu1980Ter)
c.5936T>G (p.Leu1979Ter)
c.5891T>G (p.Leu1964Ter)
n.6556T>G
Xg.77574319A>GCA413701160ATRXc.6257T>C (p.Leu2086Ser)
n.92T>C
c.1355T>C (p.Leu452Ser)
c.6143T>C (p.Leu2048Ser)
c.*5885T>C (n.*5885T>C)
c.741T>C
n.3327T>C
c.6254T>C (p.Leu2085Ser)
c.6170T>C (p.Leu2057Ser)
c.6140T>C (p.Leu2047Ser)
c.6092T>C (p.Leu2031Ser)
c.6053T>C (p.Leu2018Ser)
c.5978T>C (p.Leu1993Ser)
n.6599T>C
c.6167T>C (p.Leu2056Ser)
c.6137T>C (p.Leu2046Ser)
c.6089T>C (p.Leu2030Ser)
c.6056T>C (p.Leu2019Ser)
c.6026T>C (p.Leu2009Ser)
c.6023T>C (p.Leu2008Ser)
c.5975T>C (p.Leu1992Ser)
c.5939T>C (p.Leu1980Ser)
c.5936T>C (p.Leu1979Ser)
c.5891T>C (p.Leu1964Ser)
n.6556T>C
Xg.77574319A>TCA413701161ATRXc.6257T>A (p.Leu2086Ter)
n.92T>A
c.1355T>A (p.Leu452Ter)
c.6143T>A (p.Leu2048Ter)
c.*5885T>A (n.*5885T>A)
c.741T>A
n.3327T>A
c.6254T>A (p.Leu2085Ter)
c.6170T>A (p.Leu2057Ter)
c.6140T>A (p.Leu2047Ter)
c.6092T>A (p.Leu2031Ter)
c.6053T>A (p.Leu2018Ter)
c.5978T>A (p.Leu1993Ter)
n.6599T>A
c.6167T>A (p.Leu2056Ter)
c.6137T>A (p.Leu2046Ter)
c.6089T>A (p.Leu2030Ter)
c.6056T>A (p.Leu2019Ter)
c.6026T>A (p.Leu2009Ter)
c.6023T>A (p.Leu2008Ter)
c.5975T>A (p.Leu1992Ter)
c.5939T>A (p.Leu1980Ter)
c.5936T>A (p.Leu1979Ter)
c.5891T>A (p.Leu1964Ter)
n.6556T>A
Xg.77574320A>CCA413701162ATRXc.6256T>G (p.Leu2086Val)
n.91T>G
c.1354T>G (p.Leu452Val)
c.6142T>G (p.Leu2048Val)
c.*5884T>G (n.*5884T>G)
c.740T>G
n.3326T>G
c.6253T>G (p.Leu2085Val)
c.6169T>G (p.Leu2057Val)
c.6139T>G (p.Leu2047Val)
c.6091T>G (p.Leu2031Val)
c.6052T>G (p.Leu2018Val)
c.5977T>G (p.Leu1993Val)
n.6598T>G
c.6166T>G (p.Leu2056Val)
c.6136T>G (p.Leu2046Val)
c.6088T>G (p.Leu2030Val)
c.6055T>G (p.Leu2019Val)
c.6025T>G (p.Leu2009Val)
c.6022T>G (p.Leu2008Val)
c.5974T>G (p.Leu1992Val)
c.5938T>G (p.Leu1980Val)
c.5935T>G (p.Leu1979Val)
c.5890T>G (p.Leu1964Val)
n.6555T>G
Xg.77574320A>GCA517374799ATRXc.6256T>C (p.Leu2086=)
n.91T>C
c.1354T>C (p.Leu452=)
c.6142T>C (p.Leu2048=)
c.*5884T>C (n.*5884T>C)
c.740T>C
n.3326T>C
c.6253T>C (p.Leu2085=)
c.6169T>C (p.Leu2057=)
c.6139T>C (p.Leu2047=)
c.6091T>C (p.Leu2031=)
c.6052T>C (p.Leu2018=)
c.5977T>C (p.Leu1993=)
n.6598T>C
c.6166T>C (p.Leu2056=)
c.6136T>C (p.Leu2046=)
c.6088T>C (p.Leu2030=)
c.6055T>C (p.Leu2019=)
c.6025T>C (p.Leu2009=)
c.6022T>C (p.Leu2008=)
c.5974T>C (p.Leu1992=)
c.5938T>C (p.Leu1980=)
c.5935T>C (p.Leu1979=)
c.5890T>C (p.Leu1964=)
n.6555T>C
Xg.77574320A>TCA413701163ATRXc.6256T>A (p.Leu2086Ile)
n.91T>A
c.1354T>A (p.Leu452Ile)
c.6142T>A (p.Leu2048Ile)
c.*5884T>A (n.*5884T>A)
c.740T>A
n.3326T>A
c.6253T>A (p.Leu2085Ile)
c.6169T>A (p.Leu2057Ile)
c.6139T>A (p.Leu2047Ile)
c.6091T>A (p.Leu2031Ile)
c.6052T>A (p.Leu2018Ile)
c.5977T>A (p.Leu1993Ile)
n.6598T>A
c.6166T>A (p.Leu2056Ile)
c.6136T>A (p.Leu2046Ile)
c.6088T>A (p.Leu2030Ile)
c.6055T>A (p.Leu2019Ile)
c.6025T>A (p.Leu2009Ile)
c.6022T>A (p.Leu2008Ile)
c.5974T>A (p.Leu1992Ile)
c.5938T>A (p.Leu1980Ile)
c.5935T>A (p.Leu1979Ile)
c.5890T>A (p.Leu1964Ile)
n.6555T>A
Xg.77574321A>CCA517374801ATRXc.6255T>G (p.Arg2085=)
n.90T>G
c.1353T>G (p.Arg451=)
c.6141T>G (p.Arg2047=)
c.*5883T>G (n.*5883T>G)
c.739T>G
n.3325T>G
c.6252T>G (p.Arg2084=)
c.6168T>G (p.Arg2056=)
c.6138T>G (p.Arg2046=)
c.6090T>G (p.Arg2030=)
c.6051T>G (p.Arg2017=)
c.5976T>G (p.Arg1992=)
n.6597T>G
c.6165T>G (p.Arg2055=)
c.6135T>G (p.Arg2045=)
c.6087T>G (p.Arg2029=)
c.6054T>G (p.Arg2018=)
c.6024T>G (p.Arg2008=)
c.6021T>G (p.Arg2007=)
c.5973T>G (p.Arg1991=)
c.5937T>G (p.Arg1979=)
c.5934T>G (p.Arg1978=)
c.5889T>G (p.Arg1963=)
n.6554T>G
Xg.77574321A>GCA517374802ATRXc.6255T>C (p.Arg2085=)
n.90T>C
c.1353T>C (p.Arg451=)
c.6141T>C (p.Arg2047=)
c.*5883T>C (n.*5883T>C)
c.739T>C
n.3325T>C
c.6252T>C (p.Arg2084=)
c.6168T>C (p.Arg2056=)
c.6138T>C (p.Arg2046=)
c.6090T>C (p.Arg2030=)
c.6051T>C (p.Arg2017=)
c.5976T>C (p.Arg1992=)
n.6597T>C
c.6165T>C (p.Arg2055=)
c.6135T>C (p.Arg2045=)
c.6087T>C (p.Arg2029=)
c.6054T>C (p.Arg2018=)
c.6024T>C (p.Arg2008=)
c.6021T>C (p.Arg2007=)
c.5973T>C (p.Arg1991=)
c.5937T>C (p.Arg1979=)
c.5934T>C (p.Arg1978=)
c.5889T>C (p.Arg1963=)
n.6554T>C
Xg.77574321A>TCA517374803ATRXc.6255T>A (p.Arg2085=)
n.90T>A
c.1353T>A (p.Arg451=)
c.6141T>A (p.Arg2047=)
c.*5883T>A (n.*5883T>A)
c.739T>A
n.3325T>A
c.6252T>A (p.Arg2084=)
c.6168T>A (p.Arg2056=)
c.6138T>A (p.Arg2046=)
c.6090T>A (p.Arg2030=)
c.6051T>A (p.Arg2017=)
c.5976T>A (p.Arg1992=)
n.6597T>A
c.6165T>A (p.Arg2055=)
c.6135T>A (p.Arg2045=)
c.6087T>A (p.Arg2029=)
c.6054T>A (p.Arg2018=)
c.6024T>A (p.Arg2008=)
c.6021T>A (p.Arg2007=)
c.5973T>A (p.Arg1991=)
c.5937T>A (p.Arg1979=)
c.5934T>A (p.Arg1978=)
c.5889T>A (p.Arg1963=)
n.6554T>A
Xg.77574322C>ACA413701166ATRXc.6254G>T (p.Arg2085Leu)
n.89G>T
c.1352G>T (p.Arg451Leu)
c.6140G>T (p.Arg2047Leu)
c.*5882G>T (n.*5882G>T)
c.738G>T
n.3324G>T
c.6251G>T (p.Arg2084Leu)
c.6167G>T (p.Arg2056Leu)
c.6137G>T (p.Arg2046Leu)
c.6089G>T (p.Arg2030Leu)
c.6050G>T (p.Arg2017Leu)
c.5975G>T (p.Arg1992Leu)
n.6596G>T
c.6164G>T (p.Arg2055Leu)
c.6134G>T (p.Arg2045Leu)
c.6086G>T (p.Arg2029Leu)
c.6053G>T (p.Arg2018Leu)
c.6023G>T (p.Arg2008Leu)
c.6020G>T (p.Arg2007Leu)
c.5972G>T (p.Arg1991Leu)
c.5936G>T (p.Arg1979Leu)
c.5933G>T (p.Arg1978Leu)
c.5888G>T (p.Arg1963Leu)
n.6553G>T
 ClinVar dbSNP
Xg.77574322C=CA2438951399ATRXc.6254G= (p.Arg2085=)
n.89G=
c.1352G= (p.Arg451=)
c.6140G= (p.Arg2047=)
c.*5882G= (n.*5882G=)
c.738G=
n.3324G=
c.6251G= (p.Arg2084=)
c.6167G= (p.Arg2056=)
c.6137G= (p.Arg2046=)
c.6089G= (p.Arg2030=)
c.6050G= (p.Arg2017=)
c.5975G= (p.Arg1992=)
n.6596G=
c.6164G= (p.Arg2055=)
c.6134G= (p.Arg2045=)
c.6086G= (p.Arg2029=)
c.6053G= (p.Arg2018=)
c.6023G= (p.Arg2008=)
c.6020G= (p.Arg2007=)
c.5972G= (p.Arg1991=)
c.5936G= (p.Arg1979=)
c.5933G= (p.Arg1978=)
c.5888G= (p.Arg1963=)
n.6553G=
Xg.77574322C>GCA413701167ATRXc.6254G>C (p.Arg2085Pro)
n.89G>C
c.1352G>C (p.Arg451Pro)
c.6140G>C (p.Arg2047Pro)
c.*5882G>C (n.*5882G>C)
c.738G>C
n.3324G>C
c.6251G>C (p.Arg2084Pro)
c.6167G>C (p.Arg2056Pro)
c.6137G>C (p.Arg2046Pro)
c.6089G>C (p.Arg2030Pro)
c.6050G>C (p.Arg2017Pro)
c.5975G>C (p.Arg1992Pro)
n.6596G>C
c.6164G>C (p.Arg2055Pro)
c.6134G>C (p.Arg2045Pro)
c.6086G>C (p.Arg2029Pro)
c.6053G>C (p.Arg2018Pro)
c.6023G>C (p.Arg2008Pro)
c.6020G>C (p.Arg2007Pro)
c.5972G>C (p.Arg1991Pro)
c.5936G>C (p.Arg1979Pro)
c.5933G>C (p.Arg1978Pro)
c.5888G>C (p.Arg1963Pro)
n.6553G>C
Xg.77574322C>TCA16043310ATRXc.6254G>A (p.Arg2085His)
n.89G>A
c.1352G>A (p.Arg451His)
c.6140G>A (p.Arg2047His)
c.*5882G>A (n.*5882G>A)
c.738G>A
n.3324G>A
c.6251G>A (p.Arg2084His)
c.6167G>A (p.Arg2056His)
c.6137G>A (p.Arg2046His)
c.6089G>A (p.Arg2030His)
c.6050G>A (p.Arg2017His)
c.5975G>A (p.Arg1992His)
n.6596G>A
c.6164G>A (p.Arg2055His)
c.6134G>A (p.Arg2045His)
c.6086G>A (p.Arg2029His)
c.6053G>A (p.Arg2018His)
c.6023G>A (p.Arg2008His)
c.6020G>A (p.Arg2007His)
c.5972G>A (p.Arg1991His)
c.5936G>A (p.Arg1979His)
c.5933G>A (p.Arg1978His)
c.5888G>A (p.Arg1963His)
n.6553G>A
 ClinVar dbSNP gnomAD v4
Xg.77574323G>ACA413701171ATRXc.6253C>T (p.Arg2085Cys)
n.88C>T
c.1351C>T (p.Arg451Cys)
c.6139C>T (p.Arg2047Cys)
c.*5881C>T (n.*5881C>T)
c.737C>T
n.3323C>T
c.6250C>T (p.Arg2084Cys)
c.6166C>T (p.Arg2056Cys)
c.6136C>T (p.Arg2046Cys)
c.6088C>T (p.Arg2030Cys)
c.6049C>T (p.Arg2017Cys)
c.5974C>T (p.Arg1992Cys)
n.6595C>T
c.6163C>T (p.Arg2055Cys)
c.6133C>T (p.Arg2045Cys)
c.6085C>T (p.Arg2029Cys)
c.6052C>T (p.Arg2018Cys)
c.6022C>T (p.Arg2008Cys)
c.6019C>T (p.Arg2007Cys)
c.5971C>T (p.Arg1991Cys)
c.5935C>T (p.Arg1979Cys)
c.5932C>T (p.Arg1978Cys)
c.5887C>T (p.Arg1963Cys)
n.6552C>T
 ClinVar dbSNP COSMIC
Xg.77574323G>CCA413701173ATRXc.6253C>G (p.Arg2085Gly)
n.88C>G
c.1351C>G (p.Arg451Gly)
c.6139C>G (p.Arg2047Gly)
c.*5881C>G (n.*5881C>G)
c.737C>G
n.3323C>G
c.6250C>G (p.Arg2084Gly)
c.6166C>G (p.Arg2056Gly)
c.6136C>G (p.Arg2046Gly)
c.6088C>G (p.Arg2030Gly)
c.6049C>G (p.Arg2017Gly)
c.5974C>G (p.Arg1992Gly)
n.6595C>G
c.6163C>G (p.Arg2055Gly)
c.6133C>G (p.Arg2045Gly)
c.6085C>G (p.Arg2029Gly)
c.6052C>G (p.Arg2018Gly)
c.6022C>G (p.Arg2008Gly)
c.6019C>G (p.Arg2007Gly)
c.5971C>G (p.Arg1991Gly)
c.5935C>G (p.Arg1979Gly)
c.5932C>G (p.Arg1978Gly)
c.5887C>G (p.Arg1963Gly)
n.6552C>G
Xg.77574323G>TCA413701175ATRXc.6253C>A (p.Arg2085Ser)
n.88C>A
c.1351C>A (p.Arg451Ser)
c.6139C>A (p.Arg2047Ser)
c.*5881C>A (n.*5881C>A)
c.737C>A
n.3323C>A
c.6250C>A (p.Arg2084Ser)
c.6166C>A (p.Arg2056Ser)
c.6136C>A (p.Arg2046Ser)
c.6088C>A (p.Arg2030Ser)
c.6049C>A (p.Arg2017Ser)
c.5974C>A (p.Arg1992Ser)
n.6595C>A
c.6163C>A (p.Arg2055Ser)
c.6133C>A (p.Arg2045Ser)
c.6085C>A (p.Arg2029Ser)
c.6052C>A (p.Arg2018Ser)
c.6022C>A (p.Arg2008Ser)
c.6019C>A (p.Arg2007Ser)
c.5971C>A (p.Arg1991Ser)
c.5935C>A (p.Arg1979Ser)
c.5932C>A (p.Arg1978Ser)
c.5887C>A (p.Arg1963Ser)
n.6552C>A
Xg.77574324G>ACA517374805ATRXc.6252C>T (p.Tyr2084=)
n.87C>T
c.1350C>T (p.Tyr450=)
c.6138C>T (p.Tyr2046=)
c.*5880C>T (n.*5880C>T)
c.736C>T
n.3322C>T
c.6249C>T (p.Tyr2083=)
c.6165C>T (p.Tyr2055=)
c.6135C>T (p.Tyr2045=)
c.6087C>T (p.Tyr2029=)
c.6048C>T (p.Tyr2016=)
c.5973C>T (p.Tyr1991=)
n.6594C>T
c.6162C>T (p.Tyr2054=)
c.6132C>T (p.Tyr2044=)
c.6084C>T (p.Tyr2028=)
c.6051C>T (p.Tyr2017=)
c.6021C>T (p.Tyr2007=)
c.6018C>T (p.Tyr2006=)
c.5970C>T (p.Tyr1990=)
c.5934C>T (p.Tyr1978=)
c.5931C>T (p.Tyr1977=)
c.5886C>T (p.Tyr1962=)
n.6551C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.77574324G>CCA413701177ATRXc.6252C>G (p.Tyr2084Ter)
n.87C>G
c.1350C>G (p.Tyr450Ter)
c.6138C>G (p.Tyr2046Ter)
c.*5880C>G (n.*5880C>G)
c.736C>G
n.3322C>G
c.6249C>G (p.Tyr2083Ter)
c.6165C>G (p.Tyr2055Ter)
c.6135C>G (p.Tyr2045Ter)
c.6087C>G (p.Tyr2029Ter)
c.6048C>G (p.Tyr2016Ter)
c.5973C>G (p.Tyr1991Ter)
n.6594C>G
c.6162C>G (p.Tyr2054Ter)
c.6132C>G (p.Tyr2044Ter)
c.6084C>G (p.Tyr2028Ter)
c.6051C>G (p.Tyr2017Ter)
c.6021C>G (p.Tyr2007Ter)
c.6018C>G (p.Tyr2006Ter)
c.5970C>G (p.Tyr1990Ter)
c.5934C>G (p.Tyr1978Ter)
c.5931C>G (p.Tyr1977Ter)
c.5886C>G (p.Tyr1962Ter)
n.6551C>G
Xg.77574324G=CA2438951400ATRXc.6252C= (p.Tyr2084=)
n.87C=
c.1350C= (p.Tyr450=)
c.6138C= (p.Tyr2046=)
c.*5880C= (n.*5880C=)
c.736C=
n.3322C=
c.6249C= (p.Tyr2083=)
c.6165C= (p.Tyr2055=)
c.6135C= (p.Tyr2045=)
c.6087C= (p.Tyr2029=)
c.6048C= (p.Tyr2016=)
c.5973C= (p.Tyr1991=)
n.6594C=
c.6162C= (p.Tyr2054=)
c.6132C= (p.Tyr2044=)
c.6084C= (p.Tyr2028=)
c.6051C= (p.Tyr2017=)
c.6021C= (p.Tyr2007=)
c.6018C= (p.Tyr2006=)
c.5970C= (p.Tyr1990=)
c.5934C= (p.Tyr1978=)
c.5931C= (p.Tyr1977=)
c.5886C= (p.Tyr1962=)
n.6551C=
Xg.77574324G>TCA413701179ATRXc.6252C>A (p.Tyr2084Ter)
n.87C>A
c.1350C>A (p.Tyr450Ter)
c.6138C>A (p.Tyr2046Ter)
c.*5880C>A (n.*5880C>A)
c.736C>A
n.3322C>A
c.6249C>A (p.Tyr2083Ter)
c.6165C>A (p.Tyr2055Ter)
c.6135C>A (p.Tyr2045Ter)
c.6087C>A (p.Tyr2029Ter)
c.6048C>A (p.Tyr2016Ter)
c.5973C>A (p.Tyr1991Ter)
n.6594C>A
c.6162C>A (p.Tyr2054Ter)
c.6132C>A (p.Tyr2044Ter)
c.6084C>A (p.Tyr2028Ter)
c.6051C>A (p.Tyr2017Ter)
c.6021C>A (p.Tyr2007Ter)
c.6018C>A (p.Tyr2006Ter)
c.5970C>A (p.Tyr1990Ter)
c.5934C>A (p.Tyr1978Ter)
c.5931C>A (p.Tyr1977Ter)
c.5886C>A (p.Tyr1962Ter)
n.6551C>A
Xg.77574325delCA2579648815ATRXc.6251del (p.Tyr2084SerfsTer3)
n.86del
c.1349del (p.Tyr450SerfsTer3)
c.6137del (p.Tyr2046SerfsTer3)
c.*5879del (n.*5879del)
c.735del
n.3321del
c.6248del (p.Tyr2083SerfsTer3)
c.6164del (p.Tyr2055SerfsTer3)
c.6134del (p.Tyr2045SerfsTer3)
c.6086del (p.Tyr2029SerfsTer3)
c.6047del (p.Tyr2016SerfsTer3)
c.5972del (p.Tyr1991SerfsTer3)
n.6593del
c.6161del (p.Tyr2054SerfsTer3)
c.6131del (p.Tyr2044SerfsTer3)
c.6083del (p.Tyr2028SerfsTer3)
c.6050del (p.Tyr2017SerfsTer3)
c.6020del (p.Tyr2007SerfsTer3)
c.6017del (p.Tyr2006SerfsTer3)
c.5969del (p.Tyr1990SerfsTer3)
c.5933del (p.Tyr1978SerfsTer3)
c.5930del (p.Tyr1977SerfsTer3)
c.5885del (p.Tyr1962SerfsTer3)
n.6550del
Xg.77574325T>ACA413701187ATRXc.6251A>T (p.Tyr2084Phe)
n.86A>T
c.1349A>T (p.Tyr450Phe)
c.6137A>T (p.Tyr2046Phe)
c.*5879A>T (n.*5879A>T)
c.735A>T
n.3321A>T
c.6248A>T (p.Tyr2083Phe)
c.6164A>T (p.Tyr2055Phe)
c.6134A>T (p.Tyr2045Phe)
c.6086A>T (p.Tyr2029Phe)
c.6047A>T (p.Tyr2016Phe)
c.5972A>T (p.Tyr1991Phe)
n.6593A>T
c.6161A>T (p.Tyr2054Phe)
c.6131A>T (p.Tyr2044Phe)
c.6083A>T (p.Tyr2028Phe)
c.6050A>T (p.Tyr2017Phe)
c.6020A>T (p.Tyr2007Phe)
c.6017A>T (p.Tyr2006Phe)
c.5969A>T (p.Tyr1990Phe)
c.5933A>T (p.Tyr1978Phe)
c.5930A>T (p.Tyr1977Phe)
c.5885A>T (p.Tyr1962Phe)
n.6550A>T
Xg.77574325T>CCA413701184ATRXc.6251A>G (p.Tyr2084Cys)
n.86A>G
c.1349A>G (p.Tyr450Cys)
c.6137A>G (p.Tyr2046Cys)
c.*5879A>G (n.*5879A>G)
c.735A>G
n.3321A>G
c.6248A>G (p.Tyr2083Cys)
c.6164A>G (p.Tyr2055Cys)
c.6134A>G (p.Tyr2045Cys)
c.6086A>G (p.Tyr2029Cys)
c.6047A>G (p.Tyr2016Cys)
c.5972A>G (p.Tyr1991Cys)
n.6593A>G
c.6161A>G (p.Tyr2054Cys)
c.6131A>G (p.Tyr2044Cys)
c.6083A>G (p.Tyr2028Cys)
c.6050A>G (p.Tyr2017Cys)
c.6020A>G (p.Tyr2007Cys)
c.6017A>G (p.Tyr2006Cys)
c.5969A>G (p.Tyr1990Cys)
c.5933A>G (p.Tyr1978Cys)
c.5930A>G (p.Tyr1977Cys)
c.5885A>G (p.Tyr1962Cys)
n.6550A>G
Xg.77574325T>GCA413701182ATRXc.6251A>C (p.Tyr2084Ser)
n.86A>C
c.1349A>C (p.Tyr450Ser)
c.6137A>C (p.Tyr2046Ser)
c.*5879A>C (n.*5879A>C)
c.735A>C
n.3321A>C
c.6248A>C (p.Tyr2083Ser)
c.6164A>C (p.Tyr2055Ser)
c.6134A>C (p.Tyr2045Ser)
c.6086A>C (p.Tyr2029Ser)
c.6047A>C (p.Tyr2016Ser)
c.5972A>C (p.Tyr1991Ser)
n.6593A>C
c.6161A>C (p.Tyr2054Ser)
c.6131A>C (p.Tyr2044Ser)
c.6083A>C (p.Tyr2028Ser)
c.6050A>C (p.Tyr2017Ser)
c.6020A>C (p.Tyr2007Ser)
c.6017A>C (p.Tyr2006Ser)
c.5969A>C (p.Tyr1990Ser)
c.5933A>C (p.Tyr1978Ser)
c.5930A>C (p.Tyr1977Ser)
c.5885A>C (p.Tyr1962Ser)
n.6550A>C
Xg.77574326A=CA2438951401ATRXc.6250T= (p.Tyr2084=)
n.85T=
c.1348T= (p.Tyr450=)
c.6136T= (p.Tyr2046=)
c.*5878T= (n.*5878T=)
c.734T=
n.3320T=
c.6247T= (p.Tyr2083=)
c.6163T= (p.Tyr2055=)
c.6133T= (p.Tyr2045=)
c.6085T= (p.Tyr2029=)
c.6046T= (p.Tyr2016=)
c.5971T= (p.Tyr1991=)
n.6592T=
c.6160T= (p.Tyr2054=)
c.6130T= (p.Tyr2044=)
c.6082T= (p.Tyr2028=)
c.6049T= (p.Tyr2017=)
c.6019T= (p.Tyr2007=)
c.6016T= (p.Tyr2006=)
c.5968T= (p.Tyr1990=)
c.5932T= (p.Tyr1978=)
c.5929T= (p.Tyr1977=)
c.5884T= (p.Tyr1962=)
n.6549T=
Xg.77574326A>CCA413701189ATRXc.6250T>G (p.Tyr2084Asp)
n.85T>G
c.1348T>G (p.Tyr450Asp)
c.6136T>G (p.Tyr2046Asp)
c.*5878T>G (n.*5878T>G)
c.734T>G
n.3320T>G
c.6247T>G (p.Tyr2083Asp)
c.6163T>G (p.Tyr2055Asp)
c.6133T>G (p.Tyr2045Asp)
c.6085T>G (p.Tyr2029Asp)
c.6046T>G (p.Tyr2016Asp)
c.5971T>G (p.Tyr1991Asp)
n.6592T>G
c.6160T>G (p.Tyr2054Asp)
c.6130T>G (p.Tyr2044Asp)
c.6082T>G (p.Tyr2028Asp)
c.6049T>G (p.Tyr2017Asp)
c.6019T>G (p.Tyr2007Asp)
c.6016T>G (p.Tyr2006Asp)
c.5968T>G (p.Tyr1990Asp)
c.5932T>G (p.Tyr1978Asp)
c.5929T>G (p.Tyr1977Asp)
c.5884T>G (p.Tyr1962Asp)
n.6549T>G
Xg.77574326A>GCA256028ATRXc.6250T>C (p.Tyr2084His)
n.85T>C
c.1348T>C (p.Tyr450His)
c.6136T>C (p.Tyr2046His)
c.*5878T>C (n.*5878T>C)
c.734T>C
n.3320T>C
c.6247T>C (p.Tyr2083His)
c.6163T>C (p.Tyr2055His)
c.6133T>C (p.Tyr2045His)
c.6085T>C (p.Tyr2029His)
c.6046T>C (p.Tyr2016His)
c.5971T>C (p.Tyr1991His)
n.6592T>C
c.6160T>C (p.Tyr2054His)
c.6130T>C (p.Tyr2044His)
c.6082T>C (p.Tyr2028His)
c.6049T>C (p.Tyr2017His)
c.6019T>C (p.Tyr2007His)
c.6016T>C (p.Tyr2006His)
c.5968T>C (p.Tyr1990His)
c.5932T>C (p.Tyr1978His)
c.5929T>C (p.Tyr1977His)
c.5884T>C (p.Tyr1962His)
n.6549T>C
 ClinVar dbSNP
Xg.77574326A>TCA413701193ATRXc.6250T>A (p.Tyr2084Asn)
n.85T>A
c.1348T>A (p.Tyr450Asn)
c.6136T>A (p.Tyr2046Asn)
c.*5878T>A (n.*5878T>A)
c.734T>A
n.3320T>A
c.6247T>A (p.Tyr2083Asn)
c.6163T>A (p.Tyr2055Asn)
c.6133T>A (p.Tyr2045Asn)
c.6085T>A (p.Tyr2029Asn)
c.6046T>A (p.Tyr2016Asn)
c.5971T>A (p.Tyr1991Asn)
n.6592T>A
c.6160T>A (p.Tyr2054Asn)
c.6130T>A (p.Tyr2044Asn)
c.6082T>A (p.Tyr2028Asn)
c.6049T>A (p.Tyr2017Asn)
c.6019T>A (p.Tyr2007Asn)
c.6016T>A (p.Tyr2006Asn)
c.5968T>A (p.Tyr1990Asn)
c.5932T>A (p.Tyr1978Asn)
c.5929T>A (p.Tyr1977Asn)
c.5884T>A (p.Tyr1962Asn)
n.6549T>A
Xg.77574327A=CA2438951402ATRXc.6249T= (p.Tyr2083=)
n.84T=
c.1347T= (p.Tyr449=)
c.6135T= (p.Tyr2045=)
c.*5877T= (n.*5877T=)
c.733T=
n.3319T=
c.6246T= (p.Tyr2082=)
c.6162T= (p.Tyr2054=)
c.6132T= (p.Tyr2044=)
c.6084T= (p.Tyr2028=)
c.6045T= (p.Tyr2015=)
c.5970T= (p.Tyr1990=)
n.6591T=
c.6159T= (p.Tyr2053=)
c.6129T= (p.Tyr2043=)
c.6081T= (p.Tyr2027=)
c.6048T= (p.Tyr2016=)
c.6018T= (p.Tyr2006=)
c.6015T= (p.Tyr2005=)
c.5967T= (p.Tyr1989=)
c.5931T= (p.Tyr1977=)
c.5928T= (p.Tyr1976=)
c.5883T= (p.Tyr1961=)
n.6548T=
Xg.77574327A>CCA413701196ATRXc.6249T>G (p.Tyr2083Ter)
n.84T>G
c.1347T>G (p.Tyr449Ter)
c.6135T>G (p.Tyr2045Ter)
c.*5877T>G (n.*5877T>G)
c.733T>G
n.3319T>G
c.6246T>G (p.Tyr2082Ter)
c.6162T>G (p.Tyr2054Ter)
c.6132T>G (p.Tyr2044Ter)
c.6084T>G (p.Tyr2028Ter)
c.6045T>G (p.Tyr2015Ter)
c.5970T>G (p.Tyr1990Ter)
n.6591T>G
c.6159T>G (p.Tyr2053Ter)
c.6129T>G (p.Tyr2043Ter)
c.6081T>G (p.Tyr2027Ter)
c.6048T>G (p.Tyr2016Ter)
c.6018T>G (p.Tyr2006Ter)
c.6015T>G (p.Tyr2005Ter)
c.5967T>G (p.Tyr1989Ter)
c.5931T>G (p.Tyr1977Ter)
c.5928T>G (p.Tyr1976Ter)
c.5883T>G (p.Tyr1961Ter)
n.6548T>G
Xg.77574327A>GCA517374810ATRXc.6249T>C (p.Tyr2083=)
n.84T>C
c.1347T>C (p.Tyr449=)
c.6135T>C (p.Tyr2045=)
c.*5877T>C (n.*5877T>C)
c.733T>C
n.3319T>C
c.6246T>C (p.Tyr2082=)
c.6162T>C (p.Tyr2054=)
c.6132T>C (p.Tyr2044=)
c.6084T>C (p.Tyr2028=)
c.6045T>C (p.Tyr2015=)
c.5970T>C (p.Tyr1990=)
n.6591T>C
c.6159T>C (p.Tyr2053=)
c.6129T>C (p.Tyr2043=)
c.6081T>C (p.Tyr2027=)
c.6048T>C (p.Tyr2016=)
c.6018T>C (p.Tyr2006=)
c.6015T>C (p.Tyr2005=)
c.5967T>C (p.Tyr1989=)
c.5931T>C (p.Tyr1977=)
c.5928T>C (p.Tyr1976=)
c.5883T>C (p.Tyr1961=)
n.6548T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.77574327A>TCA413701198ATRXc.6249T>A (p.Tyr2083Ter)
n.84T>A
c.1347T>A (p.Tyr449Ter)
c.6135T>A (p.Tyr2045Ter)
c.*5877T>A (n.*5877T>A)
c.733T>A
n.3319T>A
c.6246T>A (p.Tyr2082Ter)
c.6162T>A (p.Tyr2054Ter)
c.6132T>A (p.Tyr2044Ter)
c.6084T>A (p.Tyr2028Ter)
c.6045T>A (p.Tyr2015Ter)
c.5970T>A (p.Tyr1990Ter)
n.6591T>A
c.6159T>A (p.Tyr2053Ter)
c.6129T>A (p.Tyr2043Ter)
c.6081T>A (p.Tyr2027Ter)
c.6048T>A (p.Tyr2016Ter)
c.6018T>A (p.Tyr2006Ter)
c.6015T>A (p.Tyr2005Ter)
c.5967T>A (p.Tyr1989Ter)
c.5931T>A (p.Tyr1977Ter)
c.5928T>A (p.Tyr1976Ter)
c.5883T>A (p.Tyr1961Ter)
n.6548T>A
Xg.77574328T>ACA413701200ATRXc.6248A>T (p.Tyr2083Phe)
n.83A>T
c.1346A>T (p.Tyr449Phe)
c.6134A>T (p.Tyr2045Phe)
c.*5876A>T (n.*5876A>T)
c.732A>T
n.3318A>T
c.6245A>T (p.Tyr2082Phe)
c.6161A>T (p.Tyr2054Phe)
c.6131A>T (p.Tyr2044Phe)
c.6083A>T (p.Tyr2028Phe)
c.6044A>T (p.Tyr2015Phe)
c.5969A>T (p.Tyr1990Phe)
n.6590A>T
c.6158A>T (p.Tyr2053Phe)
c.6128A>T (p.Tyr2043Phe)
c.6080A>T (p.Tyr2027Phe)
c.6047A>T (p.Tyr2016Phe)
c.6017A>T (p.Tyr2006Phe)
c.6014A>T (p.Tyr2005Phe)
c.5966A>T (p.Tyr1989Phe)
c.5930A>T (p.Tyr1977Phe)
c.5927A>T (p.Tyr1976Phe)
c.5882A>T (p.Tyr1961Phe)
n.6547A>T
Xg.77574328T>CCA413701209ATRXc.6248A>G (p.Tyr2083Cys)
n.83A>G
c.1346A>G (p.Tyr449Cys)
c.6134A>G (p.Tyr2045Cys)
c.*5876A>G (n.*5876A>G)
c.732A>G
n.3318A>G
c.6245A>G (p.Tyr2082Cys)
c.6161A>G (p.Tyr2054Cys)
c.6131A>G (p.Tyr2044Cys)
c.6083A>G (p.Tyr2028Cys)
c.6044A>G (p.Tyr2015Cys)
c.5969A>G (p.Tyr1990Cys)
n.6590A>G
c.6158A>G (p.Tyr2053Cys)
c.6128A>G (p.Tyr2043Cys)
c.6080A>G (p.Tyr2027Cys)
c.6047A>G (p.Tyr2016Cys)
c.6017A>G (p.Tyr2006Cys)
c.6014A>G (p.Tyr2005Cys)
c.5966A>G (p.Tyr1989Cys)
c.5930A>G (p.Tyr1977Cys)
c.5927A>G (p.Tyr1976Cys)
c.5882A>G (p.Tyr1961Cys)
n.6547A>G
Xg.77574328T>GCA413701211ATRXc.6248A>C (p.Tyr2083Ser)
n.83A>C
c.1346A>C (p.Tyr449Ser)
c.6134A>C (p.Tyr2045Ser)
c.*5876A>C (n.*5876A>C)
c.732A>C
n.3318A>C
c.6245A>C (p.Tyr2082Ser)
c.6161A>C (p.Tyr2054Ser)
c.6131A>C (p.Tyr2044Ser)
c.6083A>C (p.Tyr2028Ser)
c.6044A>C (p.Tyr2015Ser)
c.5969A>C (p.Tyr1990Ser)
n.6590A>C
c.6158A>C (p.Tyr2053Ser)
c.6128A>C (p.Tyr2043Ser)
c.6080A>C (p.Tyr2027Ser)
c.6047A>C (p.Tyr2016Ser)
c.6017A>C (p.Tyr2006Ser)
c.6014A>C (p.Tyr2005Ser)
c.5966A>C (p.Tyr1989Ser)
c.5930A>C (p.Tyr1977Ser)
c.5927A>C (p.Tyr1976Ser)
c.5882A>C (p.Tyr1961Ser)
n.6547A>C
Xg.77574329A>CCA413701213ATRXc.6247T>G (p.Tyr2083Asp)
n.82T>G
c.1345T>G (p.Tyr449Asp)
c.6133T>G (p.Tyr2045Asp)
c.*5875T>G (n.*5875T>G)
c.731T>G
n.3317T>G
c.6244T>G (p.Tyr2082Asp)
c.6160T>G (p.Tyr2054Asp)
c.6130T>G (p.Tyr2044Asp)
c.6082T>G (p.Tyr2028Asp)
c.6043T>G (p.Tyr2015Asp)
c.5968T>G (p.Tyr1990Asp)
n.6589T>G
c.6157T>G (p.Tyr2053Asp)
c.6127T>G (p.Tyr2043Asp)
c.6079T>G (p.Tyr2027Asp)
c.6046T>G (p.Tyr2016Asp)
c.6016T>G (p.Tyr2006Asp)
c.6013T>G (p.Tyr2005Asp)
c.5965T>G (p.Tyr1989Asp)
c.5929T>G (p.Tyr1977Asp)
c.5926T>G (p.Tyr1976Asp)
c.5881T>G (p.Tyr1961Asp)
n.6546T>G
Xg.77574329A>GCA413701215ATRXc.6247T>C (p.Tyr2083His)
n.82T>C
c.1345T>C (p.Tyr449His)
c.6133T>C (p.Tyr2045His)
c.*5875T>C (n.*5875T>C)
c.731T>C
n.3317T>C
c.6244T>C (p.Tyr2082His)
c.6160T>C (p.Tyr2054His)
c.6130T>C (p.Tyr2044His)
c.6082T>C (p.Tyr2028His)
c.6043T>C (p.Tyr2015His)
c.5968T>C (p.Tyr1990His)
n.6589T>C
c.6157T>C (p.Tyr2053His)
c.6127T>C (p.Tyr2043His)
c.6079T>C (p.Tyr2027His)
c.6046T>C (p.Tyr2016His)
c.6016T>C (p.Tyr2006His)
c.6013T>C (p.Tyr2005His)
c.5965T>C (p.Tyr1989His)
c.5929T>C (p.Tyr1977His)
c.5926T>C (p.Tyr1976His)
c.5881T>C (p.Tyr1961His)
n.6546T>C
Xg.77574329A>TCA413701217ATRXc.6247T>A (p.Tyr2083Asn)
n.82T>A
c.1345T>A (p.Tyr449Asn)
c.6133T>A (p.Tyr2045Asn)
c.*5875T>A (n.*5875T>A)
c.731T>A
n.3317T>A
c.6244T>A (p.Tyr2082Asn)
c.6160T>A (p.Tyr2054Asn)
c.6130T>A (p.Tyr2044Asn)
c.6082T>A (p.Tyr2028Asn)
c.6043T>A (p.Tyr2015Asn)
c.5968T>A (p.Tyr1990Asn)
n.6589T>A
c.6157T>A (p.Tyr2053Asn)
c.6127T>A (p.Tyr2043Asn)
c.6079T>A (p.Tyr2027Asn)
c.6046T>A (p.Tyr2016Asn)
c.6016T>A (p.Tyr2006Asn)
c.6013T>A (p.Tyr2005Asn)
c.5965T>A (p.Tyr1989Asn)
c.5929T>A (p.Tyr1977Asn)
c.5926T>A (p.Tyr1976Asn)
c.5881T>A (p.Tyr1961Asn)
n.6546T>A
Xg.77574330G>ACA517374812ATRXc.6246C>T (p.Asp2082=)
n.81C>T
c.1344C>T (p.Asp448=)
c.6132C>T (p.Asp2044=)
c.*5874C>T (n.*5874C>T)
c.730C>T
n.3316C>T
c.6243C>T (p.Asp2081=)
c.6159C>T (p.Asp2053=)
c.6129C>T (p.Asp2043=)
c.6081C>T (p.Asp2027=)
c.6042C>T (p.Asp2014=)
c.5967C>T (p.Asp1989=)
n.6588C>T
c.6156C>T (p.Asp2052=)
c.6126C>T (p.Asp2042=)
c.6078C>T (p.Asp2026=)
c.6045C>T (p.Asp2015=)
c.6015C>T (p.Asp2005=)
c.6012C>T (p.Asp2004=)
c.5964C>T (p.Asp1988=)
c.5928C>T (p.Asp1976=)
c.5925C>T (p.Asp1975=)
c.5880C>T (p.Asp1960=)
n.6545C>T
Xg.77574330G>CCA413701219ATRXc.6246C>G (p.Asp2082Glu)
n.81C>G
c.1344C>G (p.Asp448Glu)
c.6132C>G (p.Asp2044Glu)
c.*5874C>G (n.*5874C>G)
c.730C>G
n.3316C>G
c.6243C>G (p.Asp2081Glu)
c.6159C>G (p.Asp2053Glu)
c.6129C>G (p.Asp2043Glu)
c.6081C>G (p.Asp2027Glu)
c.6042C>G (p.Asp2014Glu)
c.5967C>G (p.Asp1989Glu)
n.6588C>G
c.6156C>G (p.Asp2052Glu)
c.6126C>G (p.Asp2042Glu)
c.6078C>G (p.Asp2026Glu)
c.6045C>G (p.Asp2015Glu)
c.6015C>G (p.Asp2005Glu)
c.6012C>G (p.Asp2004Glu)
c.5964C>G (p.Asp1988Glu)
c.5928C>G (p.Asp1976Glu)
c.5925C>G (p.Asp1975Glu)
c.5880C>G (p.Asp1960Glu)
n.6545C>G
Xg.77574330G>TCA413701220ATRXc.6246C>A (p.Asp2082Glu)
n.81C>A
c.1344C>A (p.Asp448Glu)
c.6132C>A (p.Asp2044Glu)
c.*5874C>A (n.*5874C>A)
c.730C>A
n.3316C>A
c.6243C>A (p.Asp2081Glu)
c.6159C>A (p.Asp2053Glu)
c.6129C>A (p.Asp2043Glu)
c.6081C>A (p.Asp2027Glu)
c.6042C>A (p.Asp2014Glu)
c.5967C>A (p.Asp1989Glu)
n.6588C>A
c.6156C>A (p.Asp2052Glu)
c.6126C>A (p.Asp2042Glu)
c.6078C>A (p.Asp2026Glu)
c.6045C>A (p.Asp2015Glu)
c.6015C>A (p.Asp2005Glu)
c.6012C>A (p.Asp2004Glu)
c.5964C>A (p.Asp1988Glu)
c.5928C>A (p.Asp1976Glu)
c.5925C>A (p.Asp1975Glu)
c.5880C>A (p.Asp1960Glu)
n.6545C>A

Number of alleles fetched