Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.77574244del | CA2579648808 | ATRX | c.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 | |
X | g.77574244T>C | CA2694140374 | ATRX | c.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 |
X | g.77574245C>T | CA2694140375 | ATRX | c.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 |
X | g.77574247T>C | CA878405013 | ATRX | c.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 |
X | g.77574247T= | CA2438951390 | ATRX | c.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= | |
X | g.77574248A>C | CA413700807 | ATRX | c.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 | |
X | g.77574248A>G | CA413700809 | ATRX | c.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 |
X | g.77574248A>T | CA413700811 | ATRX | c.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 | |
X | g.77574249C>A | CA413700814 | ATRX | c.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 | |
X | g.77574249C>G | CA413700817 | ATRX | c.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 | |
X | g.77574249C>T | CA413700818 | ATRX | c.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 |
X | g.77574250C>A | CA413700821 | ATRX | c.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 |
X | g.77574250C>G | CA413700826 | ATRX | c.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 | |
X | g.77574250C>T | CA413700824 | ATRX | c.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 |
X | g.77574251T>A | CA413700828 | ATRX | c.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 | |
X | g.77574251T>C | CA413700829 | ATRX | c.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 | |
X | g.77574251T>G | CA517374740 | ATRX | c.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 | |
X | g.77574252C>A | CA517374742 | ATRX | c.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 | |
X | g.77574252C>G | CA517374743 | ATRX | c.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 | |
X | g.77574252C>T | CA517374744 | ATRX | c.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 |
X | g.77574254_77574255del | CA2579648810 | ATRX | c.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 | |
X | g.77574253A>C | CA413700832 | ATRX | c.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 | |
X | g.77574253A>G | CA413700834 | ATRX | c.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 | |
X | g.77574253A>T | CA413700836 | ATRX | c.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 | |
X | g.77574254C>A | CA413700838 | ATRX | c.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 | |
X | g.77574254C>G | CA413700840 | ATRX | c.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 | |
X | g.77574254C>T | CA413700841 | ATRX | c.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 |
X | g.77574255A>C | CA413700843 | ATRX | c.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 | |
X | g.77574255A>G | CA517374746 | ATRX | c.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 | |
X | g.77574255A>T | CA413700845 | ATRX | c.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 | |
X | g.77574256T>A | CA413700848 | ATRX | c.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 | |
X | g.77574256T>C | CA413700850 | ATRX | c.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 | |
X | g.77574256T>G | CA413700853 | ATRX | c.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 |
X | g.77574256T= | CA2438951391 | ATRX | c.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= | |
X | g.77574257T>A | CA413700854 | ATRX | c.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 | |
X | g.77574257T>C | CA413700858 | ATRX | c.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 | |
X | g.77574257T>G | CA413700857 | ATRX | c.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 | |
X | g.77574258A>C | CA517374748 | ATRX | c.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 | |
X | g.77574258A>G | CA517374749 | ATRX | c.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 | |
X | g.77574258A>T | CA517374750 | ATRX | c.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 | |
X | g.77574259G>A | CA413700861 | ATRX | c.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 | |
X | g.77574259G>C | CA413700862 | ATRX | c.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 |
X | g.77574259G>T | CA413700864 | ATRX | c.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 | |
X | g.77574260T>A | CA413700867 | ATRX | c.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 | |
X | g.77574260T>C | CA413700869 | ATRX | c.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 |
X | g.77574260T>G | CA413700871 | ATRX | c.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 | |
X | g.77574262del | CA2579648811 | ATRX | c.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 | |
X | g.77574261T>A | CA413700872 | ATRX | c.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 | |
X | g.77574261T>C | CA517374751 | ATRX | c.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 |
X | g.77574261T>G | CA413700874 | ATRX | c.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 | |
X | g.77574262T>A | CA413700875 | ATRX | c.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 | |
X | g.77574262T>C | CA413700876 | ATRX | c.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 | |
X | g.77574262T>G | CA413700878 | ATRX | c.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 | |
X | g.77574263C>A | CA413700882 | ATRX | c.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 | |
X | g.77574263C>G | CA413700885 | ATRX | c.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 | |
X | g.77574263C>T | CA413700880 | ATRX | c.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 | |
X | g.77574264A= | CA2438951392 | ATRX | c.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= | |
X | g.77574264A>C | CA413700888 | ATRX | c.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 | |
X | g.77574264A>G | CA517374755 | ATRX | c.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 |
X | g.77574264A>T | CA413700886 | ATRX | c.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 | |
X | g.77574265T>A | CA413700892 | ATRX | c.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 | |
X | g.77574265T>C | CA413700889 | ATRX | c.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 | |
X | g.77574265T>G | CA413700890 | ATRX | c.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 | |
X | g.77574266C>A | CA413700893 | ATRX | c.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 |
X | g.77574266C>G | CA413700894 | ATRX | c.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 | |
X | g.77574266C>T | CA413700896 | ATRX | c.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 | |
X | g.77574267A>C | CA413700897 | ATRX | c.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 |
X | g.77574267A>G | CA517374756 | ATRX | c.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 | |
X | g.77574267A>T | CA413700899 | ATRX | c.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 | |
X | g.77574268T>A | CA413700902 | ATRX | c.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 | |
X | g.77574268T>C | CA413700903 | ATRX | c.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 |
X | g.77574268T>G | CA413700905 | ATRX | c.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 | |
X | g.77574269T>A | CA413700907 | ATRX | c.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 | |
X | g.77574269T>C | CA413700910 | ATRX | c.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 | |
X | g.77574269T>G | CA413700912 | ATRX | c.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 | |
X | g.77574270A>C | CA413700914 | ATRX | c.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 | |
X | g.77574270A>G | CA517374757 | ATRX | c.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 | |
X | g.77574270A>T | CA413700916 | ATRX | c.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 | |
X | g.77574272del | CA2579648812 | ATRX | c.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 | |
X | g.77574271A>C | CA413700918 | ATRX | c.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 |
X | g.77574271A>G | CA413700919 | ATRX | c.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 | |
X | g.77574271A>T | CA413700923 | ATRX | c.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 | |
X | g.77574272A>C | CA413700926 | ATRX | c.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 | |
X | g.77574272A>G | CA413700928 | ATRX | c.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 | |
X | g.77574272A>T | CA413700930 | ATRX | c.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 | |
X | g.77574273T>A | CA413700931 | ATRX | c.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 | |
X | g.77574273T>C | CA517374758 | ATRX | c.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 | |
X | g.77574273T>G | CA413700934 | ATRX | c.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 | |
X | g.77574274T>A | CA413700936 | ATRX | c.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 | |
X | g.77574274T>C | CA413700938 | ATRX | c.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 | |
X | g.77574274T>G | CA413700939 | ATRX | c.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 | |
X | g.77574275C>A | CA413700942 | ATRX | c.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 | |
X | g.77574275C>G | CA413700941 | ATRX | c.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 | |
X | g.77574275C>T | CA413700940 | ATRX | c.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 |
X | g.77574276T>A | CA413700943 | ATRX | c.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 | |
X | g.77574276T>C | CA517374760 | ATRX | c.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 | |
X | g.77574276T>G | CA413700944 | ATRX | c.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 | |
X | g.77574277T>A | CA413700946 | ATRX | c.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 | |
X | g.77574277T>C | CA413700947 | ATRX | c.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 | |
X | g.77574277T>G | CA413700949 | ATRX | c.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 | |
X | g.77574278C>A | CA413700956 | ATRX | c.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 | |
X | g.77574278C>G | CA413700954 | ATRX | c.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 | |
X | g.77574278C>T | CA413700952 | ATRX | c.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 |
X | g.77574278_77574279del | CA2520788446 | ATRX | c.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 | |
X | g.77574279A= | CA2438951393 | ATRX | c.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= | |
X | g.77574279A>C | CA517374761 | ATRX | c.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 | |
X | g.77574279A>G | CA517374762 | ATRX | c.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 | |
X | g.77574279A>T | CA517374763 | ATRX | c.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 |
X | g.77574280G>A | CA413700958 | ATRX | c.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 | |
X | g.77574280G>C | CA413700960 | ATRX | c.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 | |
X | g.77574280G>T | CA413700961 | ATRX | c.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 | |
X | g.77574281C>A | CA413700962 | ATRX | c.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 | |
X | g.77574281C>G | CA413700963 | ATRX | c.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 | |
X | g.77574281C>T | CA413700965 | ATRX | c.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 | |
X | g.77574283del | CA2579648813 | ATRX | c.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 | |
X | g.77574281_77574286del | CA2508486568 | ATRX | c.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 | |
X | g.77574282C>A | CA413700967 | ATRX | c.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 | |
X | g.77574282C>G | CA413700971 | ATRX | c.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 | |
X | g.77574282C>T | CA413700969 | ATRX | c.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 | |
X | g.77574283C>A | CA413700973 | ATRX | c.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 | |
X | g.77574283C>G | CA413700975 | ATRX | c.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 | |
X | g.77574283C>T | CA413700977 | ATRX | c.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 |
X | g.77574284A>C | CA413700979 | ATRX | c.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 | |
X | g.77574284A>G | CA413700981 | ATRX | c.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 | |
X | g.77574284A>T | CA413700983 | ATRX | c.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 | |
X | g.77574285C>A | CA413700985 | ATRX | c.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 | |
X | g.77574285C= | CA2438951394 | ATRX | c.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= | |
X | g.77574285C>G | CA413700987 | ATRX | c.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 |
X | g.77574285C>T | CA517374764 | ATRX | c.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 | |
X | g.77574286T>A | CA413700989 | ATRX | c.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 | |
X | g.77574286T>C | CA413700991 | ATRX | c.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 | |
X | g.77574286T>G | CA413700993 | ATRX | c.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 | |
X | g.77574287T>A | CA413700996 | ATRX | c.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 | |
X | g.77574287T>C | CA413701007 | ATRX | c.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 | |
X | g.77574287T>G | CA413700995 | ATRX | c.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 | |
X | g.77574288C>A | CA413701011 | ATRX | c.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 |
X | g.77574288C>G | CA413701010 | ATRX | c.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 | |
X | g.77574288C>T | CA517374765 | ATRX | c.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 | |
X | g.77574289T>A | CA413701015 | ATRX | c.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 | |
X | g.77574289T>C | CA413701016 | ATRX | c.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 | |
X | g.77574289T>G | CA413701021 | ATRX | c.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 | |
X | g.77574290T>A | CA413701027 | ATRX | c.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 | |
X | g.77574290T>C | CA413701032 | ATRX | c.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 | |
X | g.77574290T>G | CA413701034 | ATRX | c.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 | |
X | g.77574291C>A | CA413701037 | ATRX | c.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 | |
X | g.77574291C>G | CA413701038 | ATRX | c.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 | |
X | g.77574291C>T | CA517374767 | ATRX | c.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 | |
X | g.77574292C>A | CA413701042 | ATRX | c.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 | |
X | g.77574292C>G | CA413701043 | ATRX | c.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 | |
X | g.77574292C>T | CA413701047 | ATRX | c.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 | |
X | g.77574293T>A | CA413701049 | ATRX | c.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 | |
X | g.77574293T>C | CA413701051 | ATRX | c.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 | |
X | g.77574293T>G | CA517374770 | ATRX | c.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 | |
X | g.77574294del | CA2694140376 | ATRX | c.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 |
X | g.77574294T>A | CA517374771 | ATRX | c.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 | |
X | g.77574294T>C | CA517374773 | ATRX | c.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 | |
X | g.77574294T>G | CA517374775 | ATRX | c.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 | |
X | g.77574295del | CA2579648814 | ATRX | c.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 | |
X | g.77574295G>A | CA10457520 | ATRX | c.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 |
X | g.77574295G>C | CA413701057 | ATRX | c.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 |
X | g.77574295G= | CA2438951395 | ATRX | c.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= | |
X | g.77574295G>T | CA413701055 | ATRX | c.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 | |
X | g.77574296A>C | CA413701061 | ATRX | c.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 | |
X | g.77574296A>G | CA413701063 | ATRX | c.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 | |
X | g.77574296A>T | CA413701064 | ATRX | c.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 | |
X | g.77574297C>A | CA413701065 | ATRX | c.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 | |
X | g.77574297C>G | CA413701066 | ATRX | c.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 | |
X | g.77574297C>T | CA517374777 | ATRX | c.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 |
X | g.77574298T>A | CA413701067 | ATRX | c.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 | |
X | g.77574298T>C | CA413701068 | ATRX | c.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 | |
X | g.77574298T>G | CA413701069 | ATRX | c.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 | |
X | g.77574299G>A | CA413701070 | ATRX | c.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 | |
X | g.77574299G>C | CA413701071 | ATRX | c.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 | |
X | g.77574299G>T | CA413701072 | ATRX | c.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 | |
X | g.77574300T>A | CA517374778 | ATRX | c.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 | |
X | g.77574300T>C | CA517374779 | ATRX | c.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 | |
X | g.77574300T>G | CA517374780 | ATRX | c.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 |
X | g.77574301G>A | CA413701075 | ATRX | c.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 | |
X | g.77574301G>C | CA413701074 | ATRX | c.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 | |
X | g.77574301G>T | CA413701073 | ATRX | c.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 | |
X | g.77574302C>A | CA413701076 | ATRX | c.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 | |
X | g.77574302C>G | CA413701077 | ATRX | c.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 | |
X | g.77574302C>T | CA413701078 | ATRX | c.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 |
X | g.77574303A= | CA2438951396 | ATRX | c.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= | |
X | g.77574303A>C | CA517374781 | ATRX | c.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 | |
X | g.77574303A>G | CA517374782 | ATRX | c.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 |
X | g.77574303A>T | CA517374783 | ATRX | c.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 | |
X | g.77574304G>A | CA413701081 | ATRX | c.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 | |
X | g.77574304G>C | CA413701083 | ATRX | c.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 | |
X | g.77574304G>T | CA413701085 | ATRX | c.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 | |
X | g.77574305T>A | CA413701092 | ATRX | c.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 | |
X | g.77574305T>C | CA413701089 | ATRX | c.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 |
X | g.77574305T>G | CA413701088 | ATRX | c.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 | |
X | g.77574305T= | CA2438951397 | ATRX | c.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= | |
X | g.77574306A>C | CA517374785 | ATRX | c.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 | |
X | g.77574306A>G | CA517374786 | ATRX | c.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 | |
X | g.77574306A>T | CA517374787 | ATRX | c.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 | |
X | g.77574307G>A | CA10457521 | ATRX | c.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 |
X | g.77574307G>C | CA413701096 | ATRX | c.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 | |
X | g.77574307G= | CA2438951398 | ATRX | c.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= | |
X | g.77574307G>T | CA413701099 | ATRX | c.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 | |
X | g.77574308T>A | CA413701100 | ATRX | c.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 | |
X | g.77574308T>C | CA413701103 | ATRX | c.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 |
X | g.77574308T>G | CA413701106 | ATRX | c.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 | |
X | g.77574309G>A | CA517374788 | ATRX | c.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 |
X | g.77574309G>C | CA517374790 | ATRX | c.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 | |
X | g.77574309G>T | CA517374791 | ATRX | c.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 | |
X | g.77574310G>A | CA413701113 | ATRX | c.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 |
X | g.77574310G>C | CA413701116 | ATRX | c.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 | |
X | g.77574310G>T | CA413701114 | ATRX | c.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 | |
X | g.77574311A>C | CA413701118 | ATRX | c.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 | |
X | g.77574311A>G | CA413701121 | ATRX | c.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 | |
X | g.77574311A>T | CA413701123 | ATRX | c.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 | |
X | g.77574312A>C | CA517374793 | ATRX | c.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 | |
X | g.77574312A>G | CA517374794 | ATRX | c.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 |
X | g.77574312A>T | CA517374795 | ATRX | c.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 | |
X | g.77574313C>A | CA413701125 | ATRX | c.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 | |
X | g.77574313C>G | CA413701127 | ATRX | c.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 | |
X | g.77574313C>T | CA413701129 | ATRX | c.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 | |
X | g.77574314C>A | CA413701131 | ATRX | c.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 | |
X | g.77574314C>G | CA413701133 | ATRX | c.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 | |
X | g.77574314C>T | CA413701135 | ATRX | c.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 | |
X | g.77574315A>C | CA413701137 | ATRX | c.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 | |
X | g.77574315A>G | CA517374796 | ATRX | c.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 | |
X | g.77574315A>T | CA413701139 | ATRX | c.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 | |
X | g.77574316T>A | CA413701146 | ATRX | c.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 | |
X | g.77574316T>C | CA413701144 | ATRX | c.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 | |
X | g.77574316T>G | CA413701142 | ATRX | c.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 | |
X | g.77574317C>A | CA413701149 | ATRX | c.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 | |
X | g.77574317C>G | CA413701152 | ATRX | c.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 | |
X | g.77574317C>T | CA413701150 | ATRX | c.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 | |
X | g.77574318T>A | CA413701155 | ATRX | c.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 | |
X | g.77574318T>C | CA517374798 | ATRX | c.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 |
X | g.77574318T>G | CA413701157 | ATRX | c.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 | |
X | g.77574319A>C | CA413701159 | ATRX | c.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 | |
X | g.77574319A>G | CA413701160 | ATRX | c.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 | |
X | g.77574319A>T | CA413701161 | ATRX | c.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 | |
X | g.77574320A>C | CA413701162 | ATRX | c.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 | |
X | g.77574320A>G | CA517374799 | ATRX | c.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 | |
X | g.77574320A>T | CA413701163 | ATRX | c.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 | |
X | g.77574321A>C | CA517374801 | ATRX | c.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 | |
X | g.77574321A>G | CA517374802 | ATRX | c.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 | |
X | g.77574321A>T | CA517374803 | ATRX | c.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 | |
X | g.77574322C>A | CA413701166 | ATRX | c.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 |
X | g.77574322C= | CA2438951399 | ATRX | c.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= | |
X | g.77574322C>G | CA413701167 | ATRX | c.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 | |
X | g.77574322C>T | CA16043310 | ATRX | c.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 |
X | g.77574323G>A | CA413701171 | ATRX | c.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 |
X | g.77574323G>C | CA413701173 | ATRX | c.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 | |
X | g.77574323G>T | CA413701175 | ATRX | c.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 | |
X | g.77574324G>A | CA517374805 | ATRX | c.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 |
X | g.77574324G>C | CA413701177 | ATRX | c.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 | |
X | g.77574324G= | CA2438951400 | ATRX | c.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= | |
X | g.77574324G>T | CA413701179 | ATRX | c.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 | |
X | g.77574325del | CA2579648815 | ATRX | c.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 | |
X | g.77574325T>A | CA413701187 | ATRX | c.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 | |
X | g.77574325T>C | CA413701184 | ATRX | c.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 | |
X | g.77574325T>G | CA413701182 | ATRX | c.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 | |
X | g.77574326A= | CA2438951401 | ATRX | c.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= | |
X | g.77574326A>C | CA413701189 | ATRX | c.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 | |
X | g.77574326A>G | CA256028 | ATRX | c.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 |
X | g.77574326A>T | CA413701193 | ATRX | c.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 | |
X | g.77574327A= | CA2438951402 | ATRX | c.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= | |
X | g.77574327A>C | CA413701196 | ATRX | c.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 | |
X | g.77574327A>G | CA517374810 | ATRX | c.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 |
X | g.77574327A>T | CA413701198 | ATRX | c.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 | |
X | g.77574328T>A | CA413701200 | ATRX | c.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 | |
X | g.77574328T>C | CA413701209 | ATRX | c.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 | |
X | g.77574328T>G | CA413701211 | ATRX | c.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 | |
X | g.77574329A>C | CA413701213 | ATRX | c.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 | |
X | g.77574329A>G | CA413701215 | ATRX | c.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 | |
X | g.77574329A>T | CA413701217 | ATRX | c.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 | |
X | g.77574330G>A | CA517374812 | ATRX | c.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 | |
X | g.77574330G>C | CA413701219 | ATRX | c.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 | |
X | g.77574330G>T | CA413701220 | ATRX | c.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 | |
X | g.77574331T>A | CA413701228 | ATRX | c.6245A>T (p.Asp2082Val) n.80A>T c.1343A>T (p.Asp448Val) c.6131A>T (p.Asp2044Val) c.*5873A>T (n.*5873A>T) c.729A>T n.3315A>T c.6242A>T (p.Asp2081Val) c.6158A>T (p.Asp2053Val) c.6128A>T (p.Asp2043Val) c.6080A>T (p.Asp2027Val) c.6041A>T (p.Asp2014Val) c.5966A>T (p.Asp1989Val) n.6587A>T c.6155A>T (p.Asp2052Val) c.6125A>T (p.Asp2042Val) c.6077A>T (p.Asp2026Val) c.6044A>T (p.Asp2015Val) c.6014A>T (p.Asp2005Val) c.6011A>T (p.Asp2004Val) c.5963A>T (p.Asp1988Val) c.5927A>T (p.Asp1976Val) c.5924A>T (p.Asp1975Val) c.5879A>T (p.Asp1960Val) n.6544A>T | |
X | g.77574331T>C | CA413701229 | ATRX | c.6245A>G (p.Asp2082Gly) n.80A>G c.1343A>G (p.Asp448Gly) c.6131A>G (p.Asp2044Gly) c.*5873A>G (n.*5873A>G) c.729A>G n.3315A>G c.6242A>G (p.Asp2081Gly) c.6158A>G (p.Asp2053Gly) c.6128A>G (p.Asp2043Gly) c.6080A>G (p.Asp2027Gly) c.6041A>G (p.Asp2014Gly) c.5966A>G (p.Asp1989Gly) n.6587A>G c.6155A>G (p.Asp2052Gly) c.6125A>G (p.Asp2042Gly) c.6077A>G (p.Asp2026Gly) c.6044A>G (p.Asp2015Gly) c.6014A>G (p.Asp2005Gly) c.6011A>G (p.Asp2004Gly) c.5963A>G (p.Asp1988Gly) c.5927A>G (p.Asp1976Gly) c.5924A>G (p.Asp1975Gly) c.5879A>G (p.Asp1960Gly) n.6544A>G | |
X | g.77574331T>G | CA413701227 | ATRX | c.6245A>C (p.Asp2082Ala) n.80A>C c.1343A>C (p.Asp448Ala) c.6131A>C (p.Asp2044Ala) c.*5873A>C (n.*5873A>C) c.729A>C n.3315A>C c.6242A>C (p.Asp2081Ala) c.6158A>C (p.Asp2053Ala) c.6128A>C (p.Asp2043Ala) c.6080A>C (p.Asp2027Ala) c.6041A>C (p.Asp2014Ala) c.5966A>C (p.Asp1989Ala) n.6587A>C c.6155A>C (p.Asp2052Ala) c.6125A>C (p.Asp2042Ala) c.6077A>C (p.Asp2026Ala) c.6044A>C (p.Asp2015Ala) c.6014A>C (p.Asp2005Ala) c.6011A>C (p.Asp2004Ala) c.5963A>C (p.Asp1988Ala) c.5927A>C (p.Asp1976Ala) c.5924A>C (p.Asp1975Ala) c.5879A>C (p.Asp1960Ala) n.6544A>C | |
X | g.77574332C>A | CA413701230 | ATRX | c.6244G>T (p.Asp2082Tyr) n.79G>T c.1342G>T (p.Asp448Tyr) c.6130G>T (p.Asp2044Tyr) c.*5872G>T (n.*5872G>T) c.728G>T n.3314G>T c.6241G>T (p.Asp2081Tyr) c.6157G>T (p.Asp2053Tyr) c.6127G>T (p.Asp2043Tyr) c.6079G>T (p.Asp2027Tyr) c.6040G>T (p.Asp2014Tyr) c.5965G>T (p.Asp1989Tyr) n.6586G>T c.6154G>T (p.Asp2052Tyr) c.6124G>T (p.Asp2042Tyr) c.6076G>T (p.Asp2026Tyr) c.6043G>T (p.Asp2015Tyr) c.6013G>T (p.Asp2005Tyr) c.6010G>T (p.Asp2004Tyr) c.5962G>T (p.Asp1988Tyr) c.5926G>T (p.Asp1976Tyr) c.5923G>T (p.Asp1975Tyr) c.5878G>T (p.Asp1960Tyr) n.6543G>T | |
X | g.77574332C>G | CA413701231 | ATRX | c.6244G>C (p.Asp2082His) n.79G>C c.1342G>C (p.Asp448His) c.6130G>C (p.Asp2044His) c.*5872G>C (n.*5872G>C) c.728G>C n.3314G>C c.6241G>C (p.Asp2081His) c.6157G>C (p.Asp2053His) c.6127G>C (p.Asp2043His) c.6079G>C (p.Asp2027His) c.6040G>C (p.Asp2014His) c.5965G>C (p.Asp1989His) n.6586G>C c.6154G>C (p.Asp2052His) c.6124G>C (p.Asp2042His) c.6076G>C (p.Asp2026His) c.6043G>C (p.Asp2015His) c.6013G>C (p.Asp2005His) c.6010G>C (p.Asp2004His) c.5962G>C (p.Asp1988His) c.5926G>C (p.Asp1976His) c.5923G>C (p.Asp1975His) c.5878G>C (p.Asp1960His) n.6543G>C | |
X | g.77574332C>T | CA413701232 | ATRX | c.6244G>A (p.Asp2082Asn) n.79G>A c.1342G>A (p.Asp448Asn) c.6130G>A (p.Asp2044Asn) c.*5872G>A (n.*5872G>A) c.728G>A n.3314G>A c.6241G>A (p.Asp2081Asn) c.6157G>A (p.Asp2053Asn) c.6127G>A (p.Asp2043Asn) c.6079G>A (p.Asp2027Asn) c.6040G>A (p.Asp2014Asn) c.5965G>A (p.Asp1989Asn) n.6586G>A c.6154G>A (p.Asp2052Asn) c.6124G>A (p.Asp2042Asn) c.6076G>A (p.Asp2026Asn) c.6043G>A (p.Asp2015Asn) c.6013G>A (p.Asp2005Asn) c.6010G>A (p.Asp2004Asn) c.5962G>A (p.Asp1988Asn) c.5926G>A (p.Asp1976Asn) c.5923G>A (p.Asp1975Asn) c.5878G>A (p.Asp1960Asn) n.6543G>A | |
X | g.77574333A>C | CA413701233 | ATRX | c.6243T>G (p.Ile2081Met) n.78T>G c.1341T>G (p.Ile447Met) c.6129T>G (p.Ile2043Met) c.*5871T>G (n.*5871T>G) c.727T>G n.3313T>G c.6240T>G (p.Ile2080Met) c.6156T>G (p.Ile2052Met) c.6126T>G (p.Ile2042Met) c.6078T>G (p.Ile2026Met) c.6039T>G (p.Ile2013Met) c.5964T>G (p.Ile1988Met) n.6585T>G c.6153T>G (p.Ile2051Met) c.6123T>G (p.Ile2041Met) c.6075T>G (p.Ile2025Met) c.6042T>G (p.Ile2014Met) c.6012T>G (p.Ile2004Met) c.6009T>G (p.Ile2003Met) c.5961T>G (p.Ile1987Met) c.5925T>G (p.Ile1975Met) c.5922T>G (p.Ile1974Met) c.5877T>G (p.Ile1959Met) n.6542T>G | |
X | g.77574333A>G | CA517374817 | ATRX | c.6243T>C (p.Ile2081=) n.78T>C c.1341T>C (p.Ile447=) c.6129T>C (p.Ile2043=) c.*5871T>C (n.*5871T>C) c.727T>C n.3313T>C c.6240T>C (p.Ile2080=) c.6156T>C (p.Ile2052=) c.6126T>C (p.Ile2042=) c.6078T>C (p.Ile2026=) c.6039T>C (p.Ile2013=) c.5964T>C (p.Ile1988=) n.6585T>C c.6153T>C (p.Ile2051=) c.6123T>C (p.Ile2041=) c.6075T>C (p.Ile2025=) c.6042T>C (p.Ile2014=) c.6012T>C (p.Ile2004=) c.6009T>C (p.Ile2003=) c.5961T>C (p.Ile1987=) c.5925T>C (p.Ile1975=) c.5922T>C (p.Ile1974=) c.5877T>C (p.Ile1959=) n.6542T>C | gnomAD v4 |
X | g.77574333A>T | CA517374818 | ATRX | c.6243T>A (p.Ile2081=) n.78T>A c.1341T>A (p.Ile447=) c.6129T>A (p.Ile2043=) c.*5871T>A (n.*5871T>A) c.727T>A n.3313T>A c.6240T>A (p.Ile2080=) c.6156T>A (p.Ile2052=) c.6126T>A (p.Ile2042=) c.6078T>A (p.Ile2026=) c.6039T>A (p.Ile2013=) c.5964T>A (p.Ile1988=) n.6585T>A c.6153T>A (p.Ile2051=) c.6123T>A (p.Ile2041=) c.6075T>A (p.Ile2025=) c.6042T>A (p.Ile2014=) c.6012T>A (p.Ile2004=) c.6009T>A (p.Ile2003=) c.5961T>A (p.Ile1987=) c.5925T>A (p.Ile1975=) c.5922T>A (p.Ile1974=) c.5877T>A (p.Ile1959=) n.6542T>A | ClinVar dbSNP gnomAD v4 |
X | g.77574334A>C | CA413701234 | ATRX | c.6242T>G (p.Ile2081Ser) n.77T>G c.1340T>G (p.Ile447Ser) c.6128T>G (p.Ile2043Ser) c.*5870T>G (n.*5870T>G) c.726T>G n.3312T>G c.6239T>G (p.Ile2080Ser) c.6155T>G (p.Ile2052Ser) c.6125T>G (p.Ile2042Ser) c.6077T>G (p.Ile2026Ser) c.6038T>G (p.Ile2013Ser) c.5963T>G (p.Ile1988Ser) n.6584T>G c.6152T>G (p.Ile2051Ser) c.6122T>G (p.Ile2041Ser) c.6074T>G (p.Ile2025Ser) c.6041T>G (p.Ile2014Ser) c.6011T>G (p.Ile2004Ser) c.6008T>G (p.Ile2003Ser) c.5960T>G (p.Ile1987Ser) c.5924T>G (p.Ile1975Ser) c.5921T>G (p.Ile1974Ser) c.5876T>G (p.Ile1959Ser) n.6541T>G | |
X | g.77574334A>G | CA413701235 | ATRX | c.6242T>C (p.Ile2081Thr) n.77T>C c.1340T>C (p.Ile447Thr) c.6128T>C (p.Ile2043Thr) c.*5870T>C (n.*5870T>C) c.726T>C n.3312T>C c.6239T>C (p.Ile2080Thr) c.6155T>C (p.Ile2052Thr) c.6125T>C (p.Ile2042Thr) c.6077T>C (p.Ile2026Thr) c.6038T>C (p.Ile2013Thr) c.5963T>C (p.Ile1988Thr) n.6584T>C c.6152T>C (p.Ile2051Thr) c.6122T>C (p.Ile2041Thr) c.6074T>C (p.Ile2025Thr) c.6041T>C (p.Ile2014Thr) c.6011T>C (p.Ile2004Thr) c.6008T>C (p.Ile2003Thr) c.5960T>C (p.Ile1987Thr) c.5924T>C (p.Ile1975Thr) c.5921T>C (p.Ile1974Thr) c.5876T>C (p.Ile1959Thr) n.6541T>C | |
X | g.77574334A>T | CA413701236 | ATRX | c.6242T>A (p.Ile2081Asn) n.77T>A c.1340T>A (p.Ile447Asn) c.6128T>A (p.Ile2043Asn) c.*5870T>A (n.*5870T>A) c.726T>A n.3312T>A c.6239T>A (p.Ile2080Asn) c.6155T>A (p.Ile2052Asn) c.6125T>A (p.Ile2042Asn) c.6077T>A (p.Ile2026Asn) c.6038T>A (p.Ile2013Asn) c.5963T>A (p.Ile1988Asn) n.6584T>A c.6152T>A (p.Ile2051Asn) c.6122T>A (p.Ile2041Asn) c.6074T>A (p.Ile2025Asn) c.6041T>A (p.Ile2014Asn) c.6011T>A (p.Ile2004Asn) c.6008T>A (p.Ile2003Asn) c.5960T>A (p.Ile1987Asn) c.5924T>A (p.Ile1975Asn) c.5921T>A (p.Ile1974Asn) c.5876T>A (p.Ile1959Asn) n.6541T>A | |
X | g.77574335T>A | CA413701237 | ATRX | c.6241A>T (p.Ile2081Phe) n.76A>T c.1339A>T (p.Ile447Phe) c.6127A>T (p.Ile2043Phe) c.*5869A>T (n.*5869A>T) c.725A>T n.3311A>T c.6238A>T (p.Ile2080Phe) c.6154A>T (p.Ile2052Phe) c.6124A>T (p.Ile2042Phe) c.6076A>T (p.Ile2026Phe) c.6037A>T (p.Ile2013Phe) c.5962A>T (p.Ile1988Phe) n.6583A>T c.6151A>T (p.Ile2051Phe) c.6121A>T (p.Ile2041Phe) c.6073A>T (p.Ile2025Phe) c.6040A>T (p.Ile2014Phe) c.6010A>T (p.Ile2004Phe) c.6007A>T (p.Ile2003Phe) c.5959A>T (p.Ile1987Phe) c.5923A>T (p.Ile1975Phe) c.5920A>T (p.Ile1974Phe) c.5875A>T (p.Ile1959Phe) n.6540A>T | ClinVar |
X | g.77574335T>C | CA413701238 | ATRX | c.6241A>G (p.Ile2081Val) n.76A>G c.1339A>G (p.Ile447Val) c.6127A>G (p.Ile2043Val) c.*5869A>G (n.*5869A>G) c.725A>G n.3311A>G c.6238A>G (p.Ile2080Val) c.6154A>G (p.Ile2052Val) c.6124A>G (p.Ile2042Val) c.6076A>G (p.Ile2026Val) c.6037A>G (p.Ile2013Val) c.5962A>G (p.Ile1988Val) n.6583A>G c.6151A>G (p.Ile2051Val) c.6121A>G (p.Ile2041Val) c.6073A>G (p.Ile2025Val) c.6040A>G (p.Ile2014Val) c.6010A>G (p.Ile2004Val) c.6007A>G (p.Ile2003Val) c.5959A>G (p.Ile1987Val) c.5923A>G (p.Ile1975Val) c.5920A>G (p.Ile1974Val) c.5875A>G (p.Ile1959Val) n.6540A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.77574335T>G | CA413701239 | ATRX | c.6241A>C (p.Ile2081Leu) n.76A>C c.1339A>C (p.Ile447Leu) c.6127A>C (p.Ile2043Leu) c.*5869A>C (n.*5869A>C) c.725A>C n.3311A>C c.6238A>C (p.Ile2080Leu) c.6154A>C (p.Ile2052Leu) c.6124A>C (p.Ile2042Leu) c.6076A>C (p.Ile2026Leu) c.6037A>C (p.Ile2013Leu) c.5962A>C (p.Ile1988Leu) n.6583A>C c.6151A>C (p.Ile2051Leu) c.6121A>C (p.Ile2041Leu) c.6073A>C (p.Ile2025Leu) c.6040A>C (p.Ile2014Leu) c.6010A>C (p.Ile2004Leu) c.6007A>C (p.Ile2003Leu) c.5959A>C (p.Ile1987Leu) c.5923A>C (p.Ile1975Leu) c.5920A>C (p.Ile1974Leu) c.5875A>C (p.Ile1959Leu) n.6540A>C | |
X | g.77574335T= | CA2438951403 | ATRX | c.6241A= (p.Ile2081=) n.76A= c.1339A= (p.Ile447=) c.6127A= (p.Ile2043=) c.*5869A= (n.*5869A=) c.725A= n.3311A= c.6238A= (p.Ile2080=) c.6154A= (p.Ile2052=) c.6124A= (p.Ile2042=) c.6076A= (p.Ile2026=) c.6037A= (p.Ile2013=) c.5962A= (p.Ile1988=) n.6583A= c.6151A= (p.Ile2051=) c.6121A= (p.Ile2041=) c.6073A= (p.Ile2025=) c.6040A= (p.Ile2014=) c.6010A= (p.Ile2004=) c.6007A= (p.Ile2003=) c.5959A= (p.Ile1987=) c.5923A= (p.Ile1975=) c.5920A= (p.Ile1974=) c.5875A= (p.Ile1959=) n.6540A= | |
X | g.77574336G>A | CA517374819 | ATRX | c.6240C>T (p.Asn2080=) n.75C>T c.1338C>T (p.Asn446=) c.6126C>T (p.Asn2042=) c.*5868C>T (n.*5868C>T) c.724C>T n.3310C>T c.6237C>T (p.Asn2079=) c.6153C>T (p.Asn2051=) c.6123C>T (p.Asn2041=) c.6075C>T (p.Asn2025=) c.6036C>T (p.Asn2012=) c.5961C>T (p.Asn1987=) n.6582C>T c.6150C>T (p.Asn2050=) c.6120C>T (p.Asn2040=) c.6072C>T (p.Asn2024=) c.6039C>T (p.Asn2013=) c.6009C>T (p.Asn2003=) c.6006C>T (p.Asn2002=) c.5958C>T (p.Asn1986=) c.5922C>T (p.Asn1974=) c.5919C>T (p.Asn1973=) c.5874C>T (p.Asn1958=) n.6539C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.77574336G>C | CA413701240 | ATRX | c.6240C>G (p.Asn2080Lys) n.75C>G c.1338C>G (p.Asn446Lys) c.6126C>G (p.Asn2042Lys) c.*5868C>G (n.*5868C>G) c.724C>G n.3310C>G c.6237C>G (p.Asn2079Lys) c.6153C>G (p.Asn2051Lys) c.6123C>G (p.Asn2041Lys) c.6075C>G (p.Asn2025Lys) c.6036C>G (p.Asn2012Lys) c.5961C>G (p.Asn1987Lys) n.6582C>G c.6150C>G (p.Asn2050Lys) c.6120C>G (p.Asn2040Lys) c.6072C>G (p.Asn2024Lys) c.6039C>G (p.Asn2013Lys) c.6009C>G (p.Asn2003Lys) c.6006C>G (p.Asn2002Lys) c.5958C>G (p.Asn1986Lys) c.5922C>G (p.Asn1974Lys) c.5919C>G (p.Asn1973Lys) c.5874C>G (p.Asn1958Lys) n.6539C>G | |
X | g.77574336G= | CA2438951404 | ATRX | c.6240C= (p.Asn2080=) n.75C= c.1338C= (p.Asn446=) c.6126C= (p.Asn2042=) c.*5868C= (n.*5868C=) c.724C= n.3310C= c.6237C= (p.Asn2079=) c.6153C= (p.Asn2051=) c.6123C= (p.Asn2041=) c.6075C= (p.Asn2025=) c.6036C= (p.Asn2012=) c.5961C= (p.Asn1987=) n.6582C= c.6150C= (p.Asn2050=) c.6120C= (p.Asn2040=) c.6072C= (p.Asn2024=) c.6039C= (p.Asn2013=) c.6009C= (p.Asn2003=) c.6006C= (p.Asn2002=) c.5958C= (p.Asn1986=) c.5922C= (p.Asn1974=) c.5919C= (p.Asn1973=) c.5874C= (p.Asn1958=) n.6539C= | |
X | g.77574336G>T | CA413701241 | ATRX | c.6240C>A (p.Asn2080Lys) n.75C>A c.1338C>A (p.Asn446Lys) c.6126C>A (p.Asn2042Lys) c.*5868C>A (n.*5868C>A) c.724C>A n.3310C>A c.6237C>A (p.Asn2079Lys) c.6153C>A (p.Asn2051Lys) c.6123C>A (p.Asn2041Lys) c.6075C>A (p.Asn2025Lys) c.6036C>A (p.Asn2012Lys) c.5961C>A (p.Asn1987Lys) n.6582C>A c.6150C>A (p.Asn2050Lys) c.6120C>A (p.Asn2040Lys) c.6072C>A (p.Asn2024Lys) c.6039C>A (p.Asn2013Lys) c.6009C>A (p.Asn2003Lys) c.6006C>A (p.Asn2002Lys) c.5958C>A (p.Asn1986Lys) c.5922C>A (p.Asn1974Lys) c.5919C>A (p.Asn1973Lys) c.5874C>A (p.Asn1958Lys) n.6539C>A | |
X | g.77574337T>A | CA413701244 | ATRX | c.6239A>T (p.Asn2080Ile) n.74A>T c.1337A>T (p.Asn446Ile) c.6125A>T (p.Asn2042Ile) c.*5867A>T (n.*5867A>T) c.723A>T n.3309A>T c.6236A>T (p.Asn2079Ile) c.6152A>T (p.Asn2051Ile) c.6122A>T (p.Asn2041Ile) c.6074A>T (p.Asn2025Ile) c.6035A>T (p.Asn2012Ile) c.5960A>T (p.Asn1987Ile) n.6581A>T c.6149A>T (p.Asn2050Ile) c.6119A>T (p.Asn2040Ile) c.6071A>T (p.Asn2024Ile) c.6038A>T (p.Asn2013Ile) c.6008A>T (p.Asn2003Ile) c.6005A>T (p.Asn2002Ile) c.5957A>T (p.Asn1986Ile) c.5921A>T (p.Asn1974Ile) c.5918A>T (p.Asn1973Ile) c.5873A>T (p.Asn1958Ile) n.6538A>T | |
X | g.77574337T>C | CA413701242 | ATRX | c.6239A>G (p.Asn2080Ser) n.74A>G c.1337A>G (p.Asn446Ser) c.6125A>G (p.Asn2042Ser) c.*5867A>G (n.*5867A>G) c.723A>G n.3309A>G c.6236A>G (p.Asn2079Ser) c.6152A>G (p.Asn2051Ser) c.6122A>G (p.Asn2041Ser) c.6074A>G (p.Asn2025Ser) c.6035A>G (p.Asn2012Ser) c.5960A>G (p.Asn1987Ser) n.6581A>G c.6149A>G (p.Asn2050Ser) c.6119A>G (p.Asn2040Ser) c.6071A>G (p.Asn2024Ser) c.6038A>G (p.Asn2013Ser) c.6008A>G (p.Asn2003Ser) c.6005A>G (p.Asn2002Ser) c.5957A>G (p.Asn1986Ser) c.5921A>G (p.Asn1974Ser) c.5918A>G (p.Asn1973Ser) c.5873A>G (p.Asn1958Ser) n.6538A>G | |
X | g.77574337T>G | CA413701243 | ATRX | c.6239A>C (p.Asn2080Thr) n.74A>C c.1337A>C (p.Asn446Thr) c.6125A>C (p.Asn2042Thr) c.*5867A>C (n.*5867A>C) c.723A>C n.3309A>C c.6236A>C (p.Asn2079Thr) c.6152A>C (p.Asn2051Thr) c.6122A>C (p.Asn2041Thr) c.6074A>C (p.Asn2025Thr) c.6035A>C (p.Asn2012Thr) c.5960A>C (p.Asn1987Thr) n.6581A>C c.6149A>C (p.Asn2050Thr) c.6119A>C (p.Asn2040Thr) c.6071A>C (p.Asn2024Thr) c.6038A>C (p.Asn2013Thr) c.6008A>C (p.Asn2003Thr) c.6005A>C (p.Asn2002Thr) c.5957A>C (p.Asn1986Thr) c.5921A>C (p.Asn1974Thr) c.5918A>C (p.Asn1973Thr) c.5873A>C (p.Asn1958Thr) n.6538A>C | |
X | g.77574338T>A | CA413701245 | ATRX | c.6238A>T (p.Asn2080Tyr) n.73A>T c.1336A>T (p.Asn446Tyr) c.6124A>T (p.Asn2042Tyr) c.*5866A>T (n.*5866A>T) c.722A>T n.3308A>T c.6235A>T (p.Asn2079Tyr) c.6151A>T (p.Asn2051Tyr) c.6121A>T (p.Asn2041Tyr) c.6073A>T (p.Asn2025Tyr) c.6034A>T (p.Asn2012Tyr) c.5959A>T (p.Asn1987Tyr) n.6580A>T c.6148A>T (p.Asn2050Tyr) c.6118A>T (p.Asn2040Tyr) c.6070A>T (p.Asn2024Tyr) c.6037A>T (p.Asn2013Tyr) c.6007A>T (p.Asn2003Tyr) c.6004A>T (p.Asn2002Tyr) c.5956A>T (p.Asn1986Tyr) c.5920A>T (p.Asn1974Tyr) c.5917A>T (p.Asn1973Tyr) c.5872A>T (p.Asn1958Tyr) n.6537A>T | |
X | g.77574338T>C | CA413701246 | ATRX | c.6238A>G (p.Asn2080Asp) n.73A>G c.1336A>G (p.Asn446Asp) c.6124A>G (p.Asn2042Asp) c.*5866A>G (n.*5866A>G) c.722A>G n.3308A>G c.6235A>G (p.Asn2079Asp) c.6151A>G (p.Asn2051Asp) c.6121A>G (p.Asn2041Asp) c.6073A>G (p.Asn2025Asp) c.6034A>G (p.Asn2012Asp) c.5959A>G (p.Asn1987Asp) n.6580A>G c.6148A>G (p.Asn2050Asp) c.6118A>G (p.Asn2040Asp) c.6070A>G (p.Asn2024Asp) c.6037A>G (p.Asn2013Asp) c.6007A>G (p.Asn2003Asp) c.6004A>G (p.Asn2002Asp) c.5956A>G (p.Asn1986Asp) c.5920A>G (p.Asn1974Asp) c.5917A>G (p.Asn1973Asp) c.5872A>G (p.Asn1958Asp) n.6537A>G | |
X | g.77574338T>G | CA413701247 | ATRX | c.6238A>C (p.Asn2080His) n.73A>C c.1336A>C (p.Asn446His) c.6124A>C (p.Asn2042His) c.*5866A>C (n.*5866A>C) c.722A>C n.3308A>C c.6235A>C (p.Asn2079His) c.6151A>C (p.Asn2051His) c.6121A>C (p.Asn2041His) c.6073A>C (p.Asn2025His) c.6034A>C (p.Asn2012His) c.5959A>C (p.Asn1987His) n.6580A>C c.6148A>C (p.Asn2050His) c.6118A>C (p.Asn2040His) c.6070A>C (p.Asn2024His) c.6037A>C (p.Asn2013His) c.6007A>C (p.Asn2003His) c.6004A>C (p.Asn2002His) c.5956A>C (p.Asn1986His) c.5920A>C (p.Asn1974His) c.5917A>C (p.Asn1973His) c.5872A>C (p.Asn1958His) n.6537A>C | |
X | g.77574339T>A | CA517374828 | ATRX | c.6237A>T (p.Arg2079=) n.72A>T c.1335A>T (p.Arg445=) c.6123A>T (p.Arg2041=) c.*5865A>T (n.*5865A>T) c.721A>T n.3307A>T c.6234A>T (p.Arg2078=) c.6150A>T (p.Arg2050=) c.6120A>T (p.Arg2040=) c.6072A>T (p.Arg2024=) c.6033A>T (p.Arg2011=) c.5958A>T (p.Arg1986=) n.6579A>T c.6147A>T (p.Arg2049=) c.6117A>T (p.Arg2039=) c.6069A>T (p.Arg2023=) c.6036A>T (p.Arg2012=) c.6006A>T (p.Arg2002=) c.6003A>T (p.Arg2001=) c.5955A>T (p.Arg1985=) c.5919A>T (p.Arg1973=) c.5916A>T (p.Arg1972=) c.5871A>T (p.Arg1957=) n.6536A>T | |
X | g.77574339T>C | CA517374827 | ATRX | c.6237A>G (p.Arg2079=) n.72A>G c.1335A>G (p.Arg445=) c.6123A>G (p.Arg2041=) c.*5865A>G (n.*5865A>G) c.721A>G n.3307A>G c.6234A>G (p.Arg2078=) c.6150A>G (p.Arg2050=) c.6120A>G (p.Arg2040=) c.6072A>G (p.Arg2024=) c.6033A>G (p.Arg2011=) c.5958A>G (p.Arg1986=) n.6579A>G c.6147A>G (p.Arg2049=) c.6117A>G (p.Arg2039=) c.6069A>G (p.Arg2023=) c.6036A>G (p.Arg2012=) c.6006A>G (p.Arg2002=) c.6003A>G (p.Arg2001=) c.5955A>G (p.Arg1985=) c.5919A>G (p.Arg1973=) c.5916A>G (p.Arg1972=) c.5871A>G (p.Arg1957=) n.6536A>G | |
X | g.77574339T>G | CA517374826 | ATRX | c.6237A>C (p.Arg2079=) n.72A>C c.1335A>C (p.Arg445=) c.6123A>C (p.Arg2041=) c.*5865A>C (n.*5865A>C) c.721A>C n.3307A>C c.6234A>C (p.Arg2078=) c.6150A>C (p.Arg2050=) c.6120A>C (p.Arg2040=) c.6072A>C (p.Arg2024=) c.6033A>C (p.Arg2011=) c.5958A>C (p.Arg1986=) n.6579A>C c.6147A>C (p.Arg2049=) c.6117A>C (p.Arg2039=) c.6069A>C (p.Arg2023=) c.6036A>C (p.Arg2012=) c.6006A>C (p.Arg2002=) c.6003A>C (p.Arg2001=) c.5955A>C (p.Arg1985=) c.5919A>C (p.Arg1973=) c.5916A>C (p.Arg1972=) c.5871A>C (p.Arg1957=) n.6536A>C | |
X | g.77574340del | CA2579648816 | ATRX | c.6236del (p.Arg2079GlnfsTer8) n.71del c.1334del (p.Arg445GlnfsTer8) c.6122del (p.Arg2041GlnfsTer8) c.*5864del (n.*5864del) c.720del n.3306del c.6233del (p.Arg2078GlnfsTer8) c.6149del (p.Arg2050GlnfsTer8) c.6119del (p.Arg2040GlnfsTer8) c.6071del (p.Arg2024GlnfsTer8) c.6032del (p.Arg2011GlnfsTer8) c.5957del (p.Arg1986GlnfsTer8) n.6578del c.6146del (p.Arg2049GlnfsTer8) c.6116del (p.Arg2039GlnfsTer8) c.6068del (p.Arg2023GlnfsTer8) c.6035del (p.Arg2012GlnfsTer8) c.6005del (p.Arg2002GlnfsTer8) c.6002del (p.Arg2001GlnfsTer8) c.5954del (p.Arg1985GlnfsTer8) c.5918del (p.Arg1973GlnfsTer8) c.5915del (p.Arg1972GlnfsTer8) c.5870del (p.Arg1957GlnfsTer8) n.6535del | |
X | g.77574340C>A | CA413701248 | ATRX | c.6236G>T (p.Arg2079Leu) n.71G>T c.1334G>T (p.Arg445Leu) c.6122G>T (p.Arg2041Leu) c.*5864G>T (n.*5864G>T) c.720G>T n.3306G>T c.6233G>T (p.Arg2078Leu) c.6149G>T (p.Arg2050Leu) c.6119G>T (p.Arg2040Leu) c.6071G>T (p.Arg2024Leu) c.6032G>T (p.Arg2011Leu) c.5957G>T (p.Arg1986Leu) n.6578G>T c.6146G>T (p.Arg2049Leu) c.6116G>T (p.Arg2039Leu) c.6068G>T (p.Arg2023Leu) c.6035G>T (p.Arg2012Leu) c.6005G>T (p.Arg2002Leu) c.6002G>T (p.Arg2001Leu) c.5954G>T (p.Arg1985Leu) c.5918G>T (p.Arg1973Leu) c.5915G>T (p.Arg1972Leu) c.5870G>T (p.Arg1957Leu) n.6535G>T | |
X | g.77574340C>G | CA413701249 | ATRX | c.6236G>C (p.Arg2079Pro) n.71G>C c.1334G>C (p.Arg445Pro) c.6122G>C (p.Arg2041Pro) c.*5864G>C (n.*5864G>C) c.720G>C n.3306G>C c.6233G>C (p.Arg2078Pro) c.6149G>C (p.Arg2050Pro) c.6119G>C (p.Arg2040Pro) c.6071G>C (p.Arg2024Pro) c.6032G>C (p.Arg2011Pro) c.5957G>C (p.Arg1986Pro) n.6578G>C c.6146G>C (p.Arg2049Pro) c.6116G>C (p.Arg2039Pro) c.6068G>C (p.Arg2023Pro) c.6035G>C (p.Arg2012Pro) c.6005G>C (p.Arg2002Pro) c.6002G>C (p.Arg2001Pro) c.5954G>C (p.Arg1985Pro) c.5918G>C (p.Arg1973Pro) c.5915G>C (p.Arg1972Pro) c.5870G>C (p.Arg1957Pro) n.6535G>C | |
X | g.77574340C>T | CA413701250 | ATRX | c.6236G>A (p.Arg2079Gln) n.71G>A c.1334G>A (p.Arg445Gln) c.6122G>A (p.Arg2041Gln) c.*5864G>A (n.*5864G>A) c.720G>A n.3306G>A c.6233G>A (p.Arg2078Gln) c.6149G>A (p.Arg2050Gln) c.6119G>A (p.Arg2040Gln) c.6071G>A (p.Arg2024Gln) c.6032G>A (p.Arg2011Gln) c.5957G>A (p.Arg1986Gln) n.6578G>A c.6146G>A (p.Arg2049Gln) c.6116G>A (p.Arg2039Gln) c.6068G>A (p.Arg2023Gln) c.6035G>A (p.Arg2012Gln) c.6005G>A (p.Arg2002Gln) c.6002G>A (p.Arg2001Gln) c.5954G>A (p.Arg1985Gln) c.5918G>A (p.Arg1973Gln) c.5915G>A (p.Arg1972Gln) c.5870G>A (p.Arg1957Gln) n.6535G>A | dbSNP COSMIC COSMIC |
X | g.77574341G>A | CA413701251 | ATRX | c.6235C>T (p.Arg2079Ter) n.70C>T c.1333C>T (p.Arg445Ter) c.6121C>T (p.Arg2041Ter) c.*5863C>T (n.*5863C>T) c.719C>T n.3305C>T c.6232C>T (p.Arg2078Ter) c.6148C>T (p.Arg2050Ter) c.6118C>T (p.Arg2040Ter) c.6070C>T (p.Arg2024Ter) c.6031C>T (p.Arg2011Ter) c.5956C>T (p.Arg1986Ter) n.6577C>T c.6145C>T (p.Arg2049Ter) c.6115C>T (p.Arg2039Ter) c.6067C>T (p.Arg2023Ter) c.6034C>T (p.Arg2012Ter) c.6004C>T (p.Arg2002Ter) c.6001C>T (p.Arg2001Ter) c.5953C>T (p.Arg1985Ter) c.5917C>T (p.Arg1973Ter) c.5914C>T (p.Arg1972Ter) c.5869C>T (p.Arg1957Ter) n.6534C>T | ClinVar dbSNP COSMIC COSMIC |
X | g.77574341G>C | CA413701252 | ATRX | c.6235C>G (p.Arg2079Gly) n.70C>G c.1333C>G (p.Arg445Gly) c.6121C>G (p.Arg2041Gly) c.*5863C>G (n.*5863C>G) c.719C>G n.3305C>G c.6232C>G (p.Arg2078Gly) c.6148C>G (p.Arg2050Gly) c.6118C>G (p.Arg2040Gly) c.6070C>G (p.Arg2024Gly) c.6031C>G (p.Arg2011Gly) c.5956C>G (p.Arg1986Gly) n.6577C>G c.6145C>G (p.Arg2049Gly) c.6115C>G (p.Arg2039Gly) c.6067C>G (p.Arg2023Gly) c.6034C>G (p.Arg2012Gly) c.6004C>G (p.Arg2002Gly) c.6001C>G (p.Arg2001Gly) c.5953C>G (p.Arg1985Gly) c.5917C>G (p.Arg1973Gly) c.5914C>G (p.Arg1972Gly) c.5869C>G (p.Arg1957Gly) n.6534C>G | dbSNP |
X | g.77574341G>T | CA517374830 | ATRX | c.6235C>A (p.Arg2079=) n.70C>A c.1333C>A (p.Arg445=) c.6121C>A (p.Arg2041=) c.*5863C>A (n.*5863C>A) c.719C>A n.3305C>A c.6232C>A (p.Arg2078=) c.6148C>A (p.Arg2050=) c.6118C>A (p.Arg2040=) c.6070C>A (p.Arg2024=) c.6031C>A (p.Arg2011=) c.5956C>A (p.Arg1986=) n.6577C>A c.6145C>A (p.Arg2049=) c.6115C>A (p.Arg2039=) c.6067C>A (p.Arg2023=) c.6034C>A (p.Arg2012=) c.6004C>A (p.Arg2002=) c.6001C>A (p.Arg2001=) c.5953C>A (p.Arg1985=) c.5917C>A (p.Arg1973=) c.5914C>A (p.Arg1972=) c.5869C>A (p.Arg1957=) n.6534C>A | |
X | g.77574342A>C | CA517374831 | ATRX | c.6234T>G (p.Leu2078=) n.69T>G c.1332T>G (p.Leu444=) c.6120T>G (p.Leu2040=) c.*5862T>G (n.*5862T>G) c.718T>G n.3304T>G c.6231T>G (p.Leu2077=) c.6147T>G (p.Leu2049=) c.6117T>G (p.Leu2039=) c.6069T>G (p.Leu2023=) c.6030T>G (p.Leu2010=) c.5955T>G (p.Leu1985=) n.6576T>G c.6144T>G (p.Leu2048=) c.6114T>G (p.Leu2038=) c.6066T>G (p.Leu2022=) c.6033T>G (p.Leu2011=) c.6003T>G (p.Leu2001=) c.6000T>G (p.Leu2000=) c.5952T>G (p.Leu1984=) c.5916T>G (p.Leu1972=) c.5913T>G (p.Leu1971=) c.5868T>G (p.Leu1956=) n.6533T>G | |
X | g.77574342A>G | CA517374832 | ATRX | c.6234T>C (p.Leu2078=) n.69T>C c.1332T>C (p.Leu444=) c.6120T>C (p.Leu2040=) c.*5862T>C (n.*5862T>C) c.718T>C n.3304T>C c.6231T>C (p.Leu2077=) c.6147T>C (p.Leu2049=) c.6117T>C (p.Leu2039=) c.6069T>C (p.Leu2023=) c.6030T>C (p.Leu2010=) c.5955T>C (p.Leu1985=) n.6576T>C c.6144T>C (p.Leu2048=) c.6114T>C (p.Leu2038=) c.6066T>C (p.Leu2022=) c.6033T>C (p.Leu2011=) c.6003T>C (p.Leu2001=) c.6000T>C (p.Leu2000=) c.5952T>C (p.Leu1984=) c.5916T>C (p.Leu1972=) c.5913T>C (p.Leu1971=) c.5868T>C (p.Leu1956=) n.6533T>C | |
X | g.77574342A>T | CA517374833 | ATRX | c.6234T>A (p.Leu2078=) n.69T>A c.1332T>A (p.Leu444=) c.6120T>A (p.Leu2040=) c.*5862T>A (n.*5862T>A) c.718T>A n.3304T>A c.6231T>A (p.Leu2077=) c.6147T>A (p.Leu2049=) c.6117T>A (p.Leu2039=) c.6069T>A (p.Leu2023=) c.6030T>A (p.Leu2010=) c.5955T>A (p.Leu1985=) n.6576T>A c.6144T>A (p.Leu2048=) c.6114T>A (p.Leu2038=) c.6066T>A (p.Leu2022=) c.6033T>A (p.Leu2011=) c.6003T>A (p.Leu2001=) c.6000T>A (p.Leu2000=) c.5952T>A (p.Leu1984=) c.5916T>A (p.Leu1972=) c.5913T>A (p.Leu1971=) c.5868T>A (p.Leu1956=) n.6533T>A | |
X | g.77574343A>C | CA413701253 | ATRX | c.6233T>G (p.Leu2078Arg) n.68T>G c.1331T>G (p.Leu444Arg) c.6119T>G (p.Leu2040Arg) c.*5861T>G (n.*5861T>G) c.717T>G n.3303T>G c.6230T>G (p.Leu2077Arg) c.6146T>G (p.Leu2049Arg) c.6116T>G (p.Leu2039Arg) c.6068T>G (p.Leu2023Arg) c.6029T>G (p.Leu2010Arg) c.5954T>G (p.Leu1985Arg) n.6575T>G c.6143T>G (p.Leu2048Arg) c.6113T>G (p.Leu2038Arg) c.6065T>G (p.Leu2022Arg) c.6032T>G (p.Leu2011Arg) c.6002T>G (p.Leu2001Arg) c.5999T>G (p.Leu2000Arg) c.5951T>G (p.Leu1984Arg) c.5915T>G (p.Leu1972Arg) c.5912T>G (p.Leu1971Arg) c.5867T>G (p.Leu1956Arg) n.6532T>G | |
X | g.77574343A>G | CA413701254 | ATRX | c.6233T>C (p.Leu2078Pro) n.68T>C c.1331T>C (p.Leu444Pro) c.6119T>C (p.Leu2040Pro) c.*5861T>C (n.*5861T>C) c.717T>C n.3303T>C c.6230T>C (p.Leu2077Pro) c.6146T>C (p.Leu2049Pro) c.6116T>C (p.Leu2039Pro) c.6068T>C (p.Leu2023Pro) c.6029T>C (p.Leu2010Pro) c.5954T>C (p.Leu1985Pro) n.6575T>C c.6143T>C (p.Leu2048Pro) c.6113T>C (p.Leu2038Pro) c.6065T>C (p.Leu2022Pro) c.6032T>C (p.Leu2011Pro) c.6002T>C (p.Leu2001Pro) c.5999T>C (p.Leu2000Pro) c.5951T>C (p.Leu1984Pro) c.5915T>C (p.Leu1972Pro) c.5912T>C (p.Leu1971Pro) c.5867T>C (p.Leu1956Pro) n.6532T>C | |
X | g.77574343A>T | CA413701255 | ATRX | c.6233T>A (p.Leu2078His) n.68T>A c.1331T>A (p.Leu444His) c.6119T>A (p.Leu2040His) c.*5861T>A (n.*5861T>A) c.717T>A n.3303T>A c.6230T>A (p.Leu2077His) c.6146T>A (p.Leu2049His) c.6116T>A (p.Leu2039His) c.6068T>A (p.Leu2023His) c.6029T>A (p.Leu2010His) c.5954T>A (p.Leu1985His) n.6575T>A c.6143T>A (p.Leu2048His) c.6113T>A (p.Leu2038His) c.6065T>A (p.Leu2022His) c.6032T>A (p.Leu2011His) c.6002T>A (p.Leu2001His) c.5999T>A (p.Leu2000His) c.5951T>A (p.Leu1984His) c.5915T>A (p.Leu1972His) c.5912T>A (p.Leu1971His) c.5867T>A (p.Leu1956His) n.6532T>A |