Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77593702T>ACA256025ATRXc.6104A>T (p.Asp2035Val)
c.1202A>T (p.Asp401Val)
c.5990A>T (p.Asp1997Val)
c.*5732A>T (n.*5732A>T)
c.588A>T
n.3174A>T
c.6101A>T (p.Asp2034Val)
c.6017A>T (p.Asp2006Val)
c.5987A>T (p.Asp1996Val)
c.5939A>T (p.Asp1980Val)
c.5900A>T (p.Asp1967Val)
c.5825A>T (p.Asp1942Val)
n.6446A>T
c.6014A>T (p.Asp2005Val)
c.5984A>T (p.Asp1995Val)
c.5936A>T (p.Asp1979Val)
c.5903A>T (p.Asp1968Val)
c.5873A>T (p.Asp1958Val)
c.5870A>T (p.Asp1957Val)
c.5822A>T (p.Asp1941Val)
c.5786A>T (p.Asp1929Val)
c.5783A>T (p.Asp1928Val)
c.5738A>T (p.Asp1913Val)
n.6403A>T
 ClinVar dbSNP
Xg.77593702T>CCA413702706ATRXc.6104A>G (p.Asp2035Gly)
c.1202A>G (p.Asp401Gly)
c.5990A>G (p.Asp1997Gly)
c.*5732A>G (n.*5732A>G)
c.588A>G
n.3174A>G
c.6101A>G (p.Asp2034Gly)
c.6017A>G (p.Asp2006Gly)
c.5987A>G (p.Asp1996Gly)
c.5939A>G (p.Asp1980Gly)
c.5900A>G (p.Asp1967Gly)
c.5825A>G (p.Asp1942Gly)
n.6446A>G
c.6014A>G (p.Asp2005Gly)
c.5984A>G (p.Asp1995Gly)
c.5936A>G (p.Asp1979Gly)
c.5903A>G (p.Asp1968Gly)
c.5873A>G (p.Asp1958Gly)
c.5870A>G (p.Asp1957Gly)
c.5822A>G (p.Asp1941Gly)
c.5786A>G (p.Asp1929Gly)
c.5783A>G (p.Asp1928Gly)
c.5738A>G (p.Asp1913Gly)
n.6403A>G
 ClinVar dbSNP
Xg.77593702T>GCA413702708ATRXc.6104A>C (p.Asp2035Ala)
c.1202A>C (p.Asp401Ala)
c.5990A>C (p.Asp1997Ala)
c.*5732A>C (n.*5732A>C)
c.588A>C
n.3174A>C
c.6101A>C (p.Asp2034Ala)
c.6017A>C (p.Asp2006Ala)
c.5987A>C (p.Asp1996Ala)
c.5939A>C (p.Asp1980Ala)
c.5900A>C (p.Asp1967Ala)
c.5825A>C (p.Asp1942Ala)
n.6446A>C
c.6014A>C (p.Asp2005Ala)
c.5984A>C (p.Asp1995Ala)
c.5936A>C (p.Asp1979Ala)
c.5903A>C (p.Asp1968Ala)
c.5873A>C (p.Asp1958Ala)
c.5870A>C (p.Asp1957Ala)
c.5822A>C (p.Asp1941Ala)
c.5786A>C (p.Asp1929Ala)
c.5783A>C (p.Asp1928Ala)
c.5738A>C (p.Asp1913Ala)
n.6403A>C
Xg.77593702T=CA2438957770ATRXc.6104A= (p.Asp2035=)
c.1202A= (p.Asp401=)
c.5990A= (p.Asp1997=)
c.*5732A= (n.*5732A=)
c.588A=
n.3174A=
c.6101A= (p.Asp2034=)
c.6017A= (p.Asp2006=)
c.5987A= (p.Asp1996=)
c.5939A= (p.Asp1980=)
c.5900A= (p.Asp1967=)
c.5825A= (p.Asp1942=)
n.6446A=
c.6014A= (p.Asp2005=)
c.5984A= (p.Asp1995=)
c.5936A= (p.Asp1979=)
c.5903A= (p.Asp1968=)
c.5873A= (p.Asp1958=)
c.5870A= (p.Asp1957=)
c.5822A= (p.Asp1941=)
c.5786A= (p.Asp1929=)
c.5783A= (p.Asp1928=)
c.5738A= (p.Asp1913=)
n.6403A=
Xg.77593703C>ACA413702714ATRXc.6103G>T (p.Asp2035Tyr)
c.1201G>T (p.Asp401Tyr)
c.5989G>T (p.Asp1997Tyr)
c.*5731G>T (n.*5731G>T)
c.587G>T
n.3173G>T
c.6100G>T (p.Asp2034Tyr)
c.6016G>T (p.Asp2006Tyr)
c.5986G>T (p.Asp1996Tyr)
c.5938G>T (p.Asp1980Tyr)
c.5899G>T (p.Asp1967Tyr)
c.5824G>T (p.Asp1942Tyr)
n.6445G>T
c.6013G>T (p.Asp2005Tyr)
c.5983G>T (p.Asp1995Tyr)
c.5935G>T (p.Asp1979Tyr)
c.5902G>T (p.Asp1968Tyr)
c.5872G>T (p.Asp1958Tyr)
c.5869G>T (p.Asp1957Tyr)
c.5821G>T (p.Asp1941Tyr)
c.5785G>T (p.Asp1929Tyr)
c.5782G>T (p.Asp1928Tyr)
c.5737G>T (p.Asp1913Tyr)
n.6402G>T
Xg.77593703C=CA2438957771ATRXc.6103G= (p.Asp2035=)
c.1201G= (p.Asp401=)
c.5989G= (p.Asp1997=)
c.*5731G= (n.*5731G=)
c.587G=
n.3173G=
c.6100G= (p.Asp2034=)
c.6016G= (p.Asp2006=)
c.5986G= (p.Asp1996=)
c.5938G= (p.Asp1980=)
c.5899G= (p.Asp1967=)
c.5824G= (p.Asp1942=)
n.6445G=
c.6013G= (p.Asp2005=)
c.5983G= (p.Asp1995=)
c.5935G= (p.Asp1979=)
c.5902G= (p.Asp1968=)
c.5872G= (p.Asp1958=)
c.5869G= (p.Asp1957=)
c.5821G= (p.Asp1941=)
c.5785G= (p.Asp1929=)
c.5782G= (p.Asp1928=)
c.5737G= (p.Asp1913=)
n.6402G=
Xg.77593703C>GCA413702713ATRXc.6103G>C (p.Asp2035His)
c.1201G>C (p.Asp401His)
c.5989G>C (p.Asp1997His)
c.*5731G>C (n.*5731G>C)
c.587G>C
n.3173G>C
c.6100G>C (p.Asp2034His)
c.6016G>C (p.Asp2006His)
c.5986G>C (p.Asp1996His)
c.5938G>C (p.Asp1980His)
c.5899G>C (p.Asp1967His)
c.5824G>C (p.Asp1942His)
n.6445G>C
c.6013G>C (p.Asp2005His)
c.5983G>C (p.Asp1995His)
c.5935G>C (p.Asp1979His)
c.5902G>C (p.Asp1968His)
c.5872G>C (p.Asp1958His)
c.5869G>C (p.Asp1957His)
c.5821G>C (p.Asp1941His)
c.5785G>C (p.Asp1929His)
c.5782G>C (p.Asp1928His)
c.5737G>C (p.Asp1913His)
n.6402G>C
Xg.77593703C>TCA413702711ATRXc.6103G>A (p.Asp2035Asn)
c.1201G>A (p.Asp401Asn)
c.5989G>A (p.Asp1997Asn)
c.*5731G>A (n.*5731G>A)
c.587G>A
n.3173G>A
c.6100G>A (p.Asp2034Asn)
c.6016G>A (p.Asp2006Asn)
c.5986G>A (p.Asp1996Asn)
c.5938G>A (p.Asp1980Asn)
c.5899G>A (p.Asp1967Asn)
c.5824G>A (p.Asp1942Asn)
n.6445G>A
c.6013G>A (p.Asp2005Asn)
c.5983G>A (p.Asp1995Asn)
c.5935G>A (p.Asp1979Asn)
c.5902G>A (p.Asp1968Asn)
c.5872G>A (p.Asp1958Asn)
c.5869G>A (p.Asp1957Asn)
c.5821G>A (p.Asp1941Asn)
c.5785G>A (p.Asp1929Asn)
c.5782G>A (p.Asp1928Asn)
c.5737G>A (p.Asp1913Asn)
n.6402G>A
 dbSNP
Xg.77593704C>ACA517375185ATRXc.6102G>T (p.Gly2034=)
c.1200G>T (p.Gly400=)
c.5988G>T (p.Gly1996=)
c.*5730G>T (n.*5730G>T)
c.586G>T
n.3172G>T
c.6099G>T (p.Gly2033=)
c.6015G>T (p.Gly2005=)
c.5985G>T (p.Gly1995=)
c.5937G>T (p.Gly1979=)
c.5898G>T (p.Gly1966=)
c.5823G>T (p.Gly1941=)
n.6444G>T
c.6012G>T (p.Gly2004=)
c.5982G>T (p.Gly1994=)
c.5934G>T (p.Gly1978=)
c.5901G>T (p.Gly1967=)
c.5871G>T (p.Gly1957=)
c.5868G>T (p.Gly1956=)
c.5820G>T (p.Gly1940=)
c.5784G>T (p.Gly1928=)
c.5781G>T (p.Gly1927=)
c.5736G>T (p.Gly1912=)
n.6401G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.77593704C=CA2438957772ATRXc.6102G= (p.Gly2034=)
c.1200G= (p.Gly400=)
c.5988G= (p.Gly1996=)
c.*5730G= (n.*5730G=)
c.586G=
n.3172G=
c.6099G= (p.Gly2033=)
c.6015G= (p.Gly2005=)
c.5985G= (p.Gly1995=)
c.5937G= (p.Gly1979=)
c.5898G= (p.Gly1966=)
c.5823G= (p.Gly1941=)
n.6444G=
c.6012G= (p.Gly2004=)
c.5982G= (p.Gly1994=)
c.5934G= (p.Gly1978=)
c.5901G= (p.Gly1967=)
c.5871G= (p.Gly1957=)
c.5868G= (p.Gly1956=)
c.5820G= (p.Gly1940=)
c.5784G= (p.Gly1928=)
c.5781G= (p.Gly1927=)
c.5736G= (p.Gly1912=)
n.6401G=
Xg.77593704C>GCA517375186ATRXc.6102G>C (p.Gly2034=)
c.1200G>C (p.Gly400=)
c.5988G>C (p.Gly1996=)
c.*5730G>C (n.*5730G>C)
c.586G>C
n.3172G>C
c.6099G>C (p.Gly2033=)
c.6015G>C (p.Gly2005=)
c.5985G>C (p.Gly1995=)
c.5937G>C (p.Gly1979=)
c.5898G>C (p.Gly1966=)
c.5823G>C (p.Gly1941=)
n.6444G>C
c.6012G>C (p.Gly2004=)
c.5982G>C (p.Gly1994=)
c.5934G>C (p.Gly1978=)
c.5901G>C (p.Gly1967=)
c.5871G>C (p.Gly1957=)
c.5868G>C (p.Gly1956=)
c.5820G>C (p.Gly1940=)
c.5784G>C (p.Gly1928=)
c.5781G>C (p.Gly1927=)
c.5736G>C (p.Gly1912=)
n.6401G>C
Xg.77593704C>TCA517375187ATRXc.6102G>A (p.Gly2034=)
c.1200G>A (p.Gly400=)
c.5988G>A (p.Gly1996=)
c.*5730G>A (n.*5730G>A)
c.586G>A
n.3172G>A
c.6099G>A (p.Gly2033=)
c.6015G>A (p.Gly2005=)
c.5985G>A (p.Gly1995=)
c.5937G>A (p.Gly1979=)
c.5898G>A (p.Gly1966=)
c.5823G>A (p.Gly1941=)
n.6444G>A
c.6012G>A (p.Gly2004=)
c.5982G>A (p.Gly1994=)
c.5934G>A (p.Gly1978=)
c.5901G>A (p.Gly1967=)
c.5871G>A (p.Gly1957=)
c.5868G>A (p.Gly1956=)
c.5820G>A (p.Gly1940=)
c.5784G>A (p.Gly1928=)
c.5781G>A (p.Gly1927=)
c.5736G>A (p.Gly1912=)
n.6401G>A
Xg.77593705C>ACA413702716ATRXc.6101G>T (p.Gly2034Val)
c.1199G>T (p.Gly400Val)
c.5987G>T (p.Gly1996Val)
c.*5729G>T (n.*5729G>T)
c.585G>T
n.3171G>T
c.6098G>T (p.Gly2033Val)
c.6014G>T (p.Gly2005Val)
c.5984G>T (p.Gly1995Val)
c.5936G>T (p.Gly1979Val)
c.5897G>T (p.Gly1966Val)
c.5822G>T (p.Gly1941Val)
n.6443G>T
c.6011G>T (p.Gly2004Val)
c.5981G>T (p.Gly1994Val)
c.5933G>T (p.Gly1978Val)
c.5900G>T (p.Gly1967Val)
c.5870G>T (p.Gly1957Val)
c.5867G>T (p.Gly1956Val)
c.5819G>T (p.Gly1940Val)
c.5783G>T (p.Gly1928Val)
c.5780G>T (p.Gly1927Val)
c.5735G>T (p.Gly1912Val)
n.6400G>T
Xg.77593705C>GCA413702718ATRXc.6101G>C (p.Gly2034Ala)
c.1199G>C (p.Gly400Ala)
c.5987G>C (p.Gly1996Ala)
c.*5729G>C (n.*5729G>C)
c.585G>C
n.3171G>C
c.6098G>C (p.Gly2033Ala)
c.6014G>C (p.Gly2005Ala)
c.5984G>C (p.Gly1995Ala)
c.5936G>C (p.Gly1979Ala)
c.5897G>C (p.Gly1966Ala)
c.5822G>C (p.Gly1941Ala)
n.6443G>C
c.6011G>C (p.Gly2004Ala)
c.5981G>C (p.Gly1994Ala)
c.5933G>C (p.Gly1978Ala)
c.5900G>C (p.Gly1967Ala)
c.5870G>C (p.Gly1957Ala)
c.5867G>C (p.Gly1956Ala)
c.5819G>C (p.Gly1940Ala)
c.5783G>C (p.Gly1928Ala)
c.5780G>C (p.Gly1927Ala)
c.5735G>C (p.Gly1912Ala)
n.6400G>C
Xg.77593705C>TCA413702719ATRXc.6101G>A (p.Gly2034Glu)
c.1199G>A (p.Gly400Glu)
c.5987G>A (p.Gly1996Glu)
c.*5729G>A (n.*5729G>A)
c.585G>A
n.3171G>A
c.6098G>A (p.Gly2033Glu)
c.6014G>A (p.Gly2005Glu)
c.5984G>A (p.Gly1995Glu)
c.5936G>A (p.Gly1979Glu)
c.5897G>A (p.Gly1966Glu)
c.5822G>A (p.Gly1941Glu)
n.6443G>A
c.6011G>A (p.Gly2004Glu)
c.5981G>A (p.Gly1994Glu)
c.5933G>A (p.Gly1978Glu)
c.5900G>A (p.Gly1967Glu)
c.5870G>A (p.Gly1957Glu)
c.5867G>A (p.Gly1956Glu)
c.5819G>A (p.Gly1940Glu)
c.5783G>A (p.Gly1928Glu)
c.5780G>A (p.Gly1927Glu)
c.5735G>A (p.Gly1912Glu)
n.6400G>A
Xg.77593706C>ACA413702720ATRXc.6100G>T (p.Gly2034Trp)
c.1198G>T (p.Gly400Trp)
c.5986G>T (p.Gly1996Trp)
c.*5728G>T (n.*5728G>T)
c.584G>T
n.3170G>T
c.6097G>T (p.Gly2033Trp)
c.6013G>T (p.Gly2005Trp)
c.5983G>T (p.Gly1995Trp)
c.5935G>T (p.Gly1979Trp)
c.5896G>T (p.Gly1966Trp)
c.5821G>T (p.Gly1941Trp)
n.6442G>T
c.6010G>T (p.Gly2004Trp)
c.5980G>T (p.Gly1994Trp)
c.5932G>T (p.Gly1978Trp)
c.5899G>T (p.Gly1967Trp)
c.5869G>T (p.Gly1957Trp)
c.5866G>T (p.Gly1956Trp)
c.5818G>T (p.Gly1940Trp)
c.5782G>T (p.Gly1928Trp)
c.5779G>T (p.Gly1927Trp)
c.5734G>T (p.Gly1912Trp)
n.6399G>T
Xg.77593706C>GCA413702722ATRXc.6100G>C (p.Gly2034Arg)
c.1198G>C (p.Gly400Arg)
c.5986G>C (p.Gly1996Arg)
c.*5728G>C (n.*5728G>C)
c.584G>C
n.3170G>C
c.6097G>C (p.Gly2033Arg)
c.6013G>C (p.Gly2005Arg)
c.5983G>C (p.Gly1995Arg)
c.5935G>C (p.Gly1979Arg)
c.5896G>C (p.Gly1966Arg)
c.5821G>C (p.Gly1941Arg)
n.6442G>C
c.6010G>C (p.Gly2004Arg)
c.5980G>C (p.Gly1994Arg)
c.5932G>C (p.Gly1978Arg)
c.5899G>C (p.Gly1967Arg)
c.5869G>C (p.Gly1957Arg)
c.5866G>C (p.Gly1956Arg)
c.5818G>C (p.Gly1940Arg)
c.5782G>C (p.Gly1928Arg)
c.5779G>C (p.Gly1927Arg)
c.5734G>C (p.Gly1912Arg)
n.6399G>C
Xg.77593706C>TCA413702724ATRXc.6100G>A (p.Gly2034Arg)
c.1198G>A (p.Gly400Arg)
c.5986G>A (p.Gly1996Arg)
c.*5728G>A (n.*5728G>A)
c.584G>A
n.3170G>A
c.6097G>A (p.Gly2033Arg)
c.6013G>A (p.Gly2005Arg)
c.5983G>A (p.Gly1995Arg)
c.5935G>A (p.Gly1979Arg)
c.5896G>A (p.Gly1966Arg)
c.5821G>A (p.Gly1941Arg)
n.6442G>A
c.6010G>A (p.Gly2004Arg)
c.5980G>A (p.Gly1994Arg)
c.5932G>A (p.Gly1978Arg)
c.5899G>A (p.Gly1967Arg)
c.5869G>A (p.Gly1957Arg)
c.5866G>A (p.Gly1956Arg)
c.5818G>A (p.Gly1940Arg)
c.5782G>A (p.Gly1928Arg)
c.5779G>A (p.Gly1927Arg)
c.5734G>A (p.Gly1912Arg)
n.6399G>A
Xg.77593707A>CCA413702726ATRXc.6099T>G (p.Ile2033Met)
c.1197T>G (p.Ile399Met)
c.5985T>G (p.Ile1995Met)
c.*5727T>G (n.*5727T>G)
c.583T>G
n.3169T>G
c.6096T>G (p.Ile2032Met)
c.6012T>G (p.Ile2004Met)
c.5982T>G (p.Ile1994Met)
c.5934T>G (p.Ile1978Met)
c.5895T>G (p.Ile1965Met)
c.5820T>G (p.Ile1940Met)
n.6441T>G
c.6009T>G (p.Ile2003Met)
c.5979T>G (p.Ile1993Met)
c.5931T>G (p.Ile1977Met)
c.5898T>G (p.Ile1966Met)
c.5868T>G (p.Ile1956Met)
c.5865T>G (p.Ile1955Met)
c.5817T>G (p.Ile1939Met)
c.5781T>G (p.Ile1927Met)
c.5778T>G (p.Ile1926Met)
c.5733T>G (p.Ile1911Met)
n.6398T>G
 gnomAD v4
Xg.77593707A>GCA517375189ATRXc.6099T>C (p.Ile2033=)
c.1197T>C (p.Ile399=)
c.5985T>C (p.Ile1995=)
c.*5727T>C (n.*5727T>C)
c.583T>C
n.3169T>C
c.6096T>C (p.Ile2032=)
c.6012T>C (p.Ile2004=)
c.5982T>C (p.Ile1994=)
c.5934T>C (p.Ile1978=)
c.5895T>C (p.Ile1965=)
c.5820T>C (p.Ile1940=)
n.6441T>C
c.6009T>C (p.Ile2003=)
c.5979T>C (p.Ile1993=)
c.5931T>C (p.Ile1977=)
c.5898T>C (p.Ile1966=)
c.5868T>C (p.Ile1956=)
c.5865T>C (p.Ile1955=)
c.5817T>C (p.Ile1939=)
c.5781T>C (p.Ile1927=)
c.5778T>C (p.Ile1926=)
c.5733T>C (p.Ile1911=)
n.6398T>C
 ClinVar gnomAD v4
Xg.77593707A>TCA517375188ATRXc.6099T>A (p.Ile2033=)
c.1197T>A (p.Ile399=)
c.5985T>A (p.Ile1995=)
c.*5727T>A (n.*5727T>A)
c.583T>A
n.3169T>A
c.6096T>A (p.Ile2032=)
c.6012T>A (p.Ile2004=)
c.5982T>A (p.Ile1994=)
c.5934T>A (p.Ile1978=)
c.5895T>A (p.Ile1965=)
c.5820T>A (p.Ile1940=)
n.6441T>A
c.6009T>A (p.Ile2003=)
c.5979T>A (p.Ile1993=)
c.5931T>A (p.Ile1977=)
c.5898T>A (p.Ile1966=)
c.5868T>A (p.Ile1956=)
c.5865T>A (p.Ile1955=)
c.5817T>A (p.Ile1939=)
c.5781T>A (p.Ile1927=)
c.5778T>A (p.Ile1926=)
c.5733T>A (p.Ile1911=)
n.6398T>A
Xg.77593708A>CCA413702727ATRXc.6098T>G (p.Ile2033Ser)
c.1196T>G (p.Ile399Ser)
c.5984T>G (p.Ile1995Ser)
c.*5726T>G (n.*5726T>G)
c.582T>G
n.3168T>G
c.6095T>G (p.Ile2032Ser)
c.6011T>G (p.Ile2004Ser)
c.5981T>G (p.Ile1994Ser)
c.5933T>G (p.Ile1978Ser)
c.5894T>G (p.Ile1965Ser)
c.5819T>G (p.Ile1940Ser)
n.6440T>G
c.6008T>G (p.Ile2003Ser)
c.5978T>G (p.Ile1993Ser)
c.5930T>G (p.Ile1977Ser)
c.5897T>G (p.Ile1966Ser)
c.5867T>G (p.Ile1956Ser)
c.5864T>G (p.Ile1955Ser)
c.5816T>G (p.Ile1939Ser)
c.5780T>G (p.Ile1927Ser)
c.5777T>G (p.Ile1926Ser)
c.5732T>G (p.Ile1911Ser)
n.6397T>G
Xg.77593708A>GCA413702728ATRXc.6098T>C (p.Ile2033Thr)
c.1196T>C (p.Ile399Thr)
c.5984T>C (p.Ile1995Thr)
c.*5726T>C (n.*5726T>C)
c.582T>C
n.3168T>C
c.6095T>C (p.Ile2032Thr)
c.6011T>C (p.Ile2004Thr)
c.5981T>C (p.Ile1994Thr)
c.5933T>C (p.Ile1978Thr)
c.5894T>C (p.Ile1965Thr)
c.5819T>C (p.Ile1940Thr)
n.6440T>C
c.6008T>C (p.Ile2003Thr)
c.5978T>C (p.Ile1993Thr)
c.5930T>C (p.Ile1977Thr)
c.5897T>C (p.Ile1966Thr)
c.5867T>C (p.Ile1956Thr)
c.5864T>C (p.Ile1955Thr)
c.5816T>C (p.Ile1939Thr)
c.5780T>C (p.Ile1927Thr)
c.5777T>C (p.Ile1926Thr)
c.5732T>C (p.Ile1911Thr)
n.6397T>C
Xg.77593708A>TCA413702729ATRXc.6098T>A (p.Ile2033Asn)
c.1196T>A (p.Ile399Asn)
c.5984T>A (p.Ile1995Asn)
c.*5726T>A (n.*5726T>A)
c.582T>A
n.3168T>A
c.6095T>A (p.Ile2032Asn)
c.6011T>A (p.Ile2004Asn)
c.5981T>A (p.Ile1994Asn)
c.5933T>A (p.Ile1978Asn)
c.5894T>A (p.Ile1965Asn)
c.5819T>A (p.Ile1940Asn)
n.6440T>A
c.6008T>A (p.Ile2003Asn)
c.5978T>A (p.Ile1993Asn)
c.5930T>A (p.Ile1977Asn)
c.5897T>A (p.Ile1966Asn)
c.5867T>A (p.Ile1956Asn)
c.5864T>A (p.Ile1955Asn)
c.5816T>A (p.Ile1939Asn)
c.5780T>A (p.Ile1927Asn)
c.5777T>A (p.Ile1926Asn)
c.5732T>A (p.Ile1911Asn)
n.6397T>A
Xg.77593709T>ACA413702730ATRXc.6097A>T (p.Ile2033Phe)
c.1195A>T (p.Ile399Phe)
c.5983A>T (p.Ile1995Phe)
c.*5725A>T (n.*5725A>T)
c.581A>T
n.3167A>T
c.6094A>T (p.Ile2032Phe)
c.6010A>T (p.Ile2004Phe)
c.5980A>T (p.Ile1994Phe)
c.5932A>T (p.Ile1978Phe)
c.5893A>T (p.Ile1965Phe)
c.5818A>T (p.Ile1940Phe)
n.6439A>T
c.6007A>T (p.Ile2003Phe)
c.5977A>T (p.Ile1993Phe)
c.5929A>T (p.Ile1977Phe)
c.5896A>T (p.Ile1966Phe)
c.5866A>T (p.Ile1956Phe)
c.5863A>T (p.Ile1955Phe)
c.5815A>T (p.Ile1939Phe)
c.5779A>T (p.Ile1927Phe)
c.5776A>T (p.Ile1926Phe)
c.5731A>T (p.Ile1911Phe)
n.6396A>T
Xg.77593709T>CCA16608939ATRXc.6097A>G (p.Ile2033Val)
c.1195A>G (p.Ile399Val)
c.5983A>G (p.Ile1995Val)
c.*5725A>G (n.*5725A>G)
c.581A>G
n.3167A>G
c.6094A>G (p.Ile2032Val)
c.6010A>G (p.Ile2004Val)
c.5980A>G (p.Ile1994Val)
c.5932A>G (p.Ile1978Val)
c.5893A>G (p.Ile1965Val)
c.5818A>G (p.Ile1940Val)
n.6439A>G
c.6007A>G (p.Ile2003Val)
c.5977A>G (p.Ile1993Val)
c.5929A>G (p.Ile1977Val)
c.5896A>G (p.Ile1966Val)
c.5866A>G (p.Ile1956Val)
c.5863A>G (p.Ile1955Val)
c.5815A>G (p.Ile1939Val)
c.5779A>G (p.Ile1927Val)
c.5776A>G (p.Ile1926Val)
c.5731A>G (p.Ile1911Val)
n.6396A>G
 ClinVar dbSNP gnomAD v4
Xg.77593709T>GCA413702733ATRXc.6097A>C (p.Ile2033Leu)
c.1195A>C (p.Ile399Leu)
c.5983A>C (p.Ile1995Leu)
c.*5725A>C (n.*5725A>C)
c.581A>C
n.3167A>C
c.6094A>C (p.Ile2032Leu)
c.6010A>C (p.Ile2004Leu)
c.5980A>C (p.Ile1994Leu)
c.5932A>C (p.Ile1978Leu)
c.5893A>C (p.Ile1965Leu)
c.5818A>C (p.Ile1940Leu)
n.6439A>C
c.6007A>C (p.Ile2003Leu)
c.5977A>C (p.Ile1993Leu)
c.5929A>C (p.Ile1977Leu)
c.5896A>C (p.Ile1966Leu)
c.5866A>C (p.Ile1956Leu)
c.5863A>C (p.Ile1955Leu)
c.5815A>C (p.Ile1939Leu)
c.5779A>C (p.Ile1927Leu)
c.5776A>C (p.Ile1926Leu)
c.5731A>C (p.Ile1911Leu)
n.6396A>C
Xg.77593709T=CA2438957773ATRXc.6097A= (p.Ile2033=)
c.1195A= (p.Ile399=)
c.5983A= (p.Ile1995=)
c.*5725A= (n.*5725A=)
c.581A=
n.3167A=
c.6094A= (p.Ile2032=)
c.6010A= (p.Ile2004=)
c.5980A= (p.Ile1994=)
c.5932A= (p.Ile1978=)
c.5893A= (p.Ile1965=)
c.5818A= (p.Ile1940=)
n.6439A=
c.6007A= (p.Ile2003=)
c.5977A= (p.Ile1993=)
c.5929A= (p.Ile1977=)
c.5896A= (p.Ile1966=)
c.5866A= (p.Ile1956=)
c.5863A= (p.Ile1955=)
c.5815A= (p.Ile1939=)
c.5779A= (p.Ile1927=)
c.5776A= (p.Ile1926=)
c.5731A= (p.Ile1911=)
n.6396A=
Xg.77593710T>ACA413702736ATRXc.6096A>T (p.Glu2032Asp)
c.1194A>T (p.Glu398Asp)
c.5982A>T (p.Glu1994Asp)
c.*5724A>T (n.*5724A>T)
c.580A>T
n.3166A>T
c.6093A>T (p.Glu2031Asp)
c.6009A>T (p.Glu2003Asp)
c.5979A>T (p.Glu1993Asp)
c.5931A>T (p.Glu1977Asp)
c.5892A>T (p.Glu1964Asp)
c.5817A>T (p.Glu1939Asp)
n.6438A>T
c.6006A>T (p.Glu2002Asp)
c.5976A>T (p.Glu1992Asp)
c.5928A>T (p.Glu1976Asp)
c.5895A>T (p.Glu1965Asp)
c.5865A>T (p.Glu1955Asp)
c.5862A>T (p.Glu1954Asp)
c.5814A>T (p.Glu1938Asp)
c.5778A>T (p.Glu1926Asp)
c.5775A>T (p.Glu1925Asp)
c.5730A>T (p.Glu1910Asp)
n.6395A>T
Xg.77593710T>CCA517375190ATRXc.6096A>G (p.Glu2032=)
c.1194A>G (p.Glu398=)
c.5982A>G (p.Glu1994=)
c.*5724A>G (n.*5724A>G)
c.580A>G
n.3166A>G
c.6093A>G (p.Glu2031=)
c.6009A>G (p.Glu2003=)
c.5979A>G (p.Glu1993=)
c.5931A>G (p.Glu1977=)
c.5892A>G (p.Glu1964=)
c.5817A>G (p.Glu1939=)
n.6438A>G
c.6006A>G (p.Glu2002=)
c.5976A>G (p.Glu1992=)
c.5928A>G (p.Glu1976=)
c.5895A>G (p.Glu1965=)
c.5865A>G (p.Glu1955=)
c.5862A>G (p.Glu1954=)
c.5814A>G (p.Glu1938=)
c.5778A>G (p.Glu1926=)
c.5775A>G (p.Glu1925=)
c.5730A>G (p.Glu1910=)
n.6395A>G
Xg.77593710T>GCA413702735ATRXc.6096A>C (p.Glu2032Asp)
c.1194A>C (p.Glu398Asp)
c.5982A>C (p.Glu1994Asp)
c.*5724A>C (n.*5724A>C)
c.580A>C
n.3166A>C
c.6093A>C (p.Glu2031Asp)
c.6009A>C (p.Glu2003Asp)
c.5979A>C (p.Glu1993Asp)
c.5931A>C (p.Glu1977Asp)
c.5892A>C (p.Glu1964Asp)
c.5817A>C (p.Glu1939Asp)
n.6438A>C
c.6006A>C (p.Glu2002Asp)
c.5976A>C (p.Glu1992Asp)
c.5928A>C (p.Glu1976Asp)
c.5895A>C (p.Glu1965Asp)
c.5865A>C (p.Glu1955Asp)
c.5862A>C (p.Glu1954Asp)
c.5814A>C (p.Glu1938Asp)
c.5778A>C (p.Glu1926Asp)
c.5775A>C (p.Glu1925Asp)
c.5730A>C (p.Glu1910Asp)
n.6395A>C
Xg.77593711T>ACA413702738ATRXc.6095A>T (p.Glu2032Val)
c.1193A>T (p.Glu398Val)
c.5981A>T (p.Glu1994Val)
c.*5723A>T (n.*5723A>T)
c.579A>T
n.3165A>T
c.6092A>T (p.Glu2031Val)
c.6008A>T (p.Glu2003Val)
c.5978A>T (p.Glu1993Val)
c.5930A>T (p.Glu1977Val)
c.5891A>T (p.Glu1964Val)
c.5816A>T (p.Glu1939Val)
n.6437A>T
c.6005A>T (p.Glu2002Val)
c.5975A>T (p.Glu1992Val)
c.5927A>T (p.Glu1976Val)
c.5894A>T (p.Glu1965Val)
c.5864A>T (p.Glu1955Val)
c.5861A>T (p.Glu1954Val)
c.5813A>T (p.Glu1938Val)
c.5777A>T (p.Glu1926Val)
c.5774A>T (p.Glu1925Val)
c.5729A>T (p.Glu1910Val)
n.6394A>T
Xg.77593711T>CCA413702740ATRXc.6095A>G (p.Glu2032Gly)
c.1193A>G (p.Glu398Gly)
c.5981A>G (p.Glu1994Gly)
c.*5723A>G (n.*5723A>G)
c.579A>G
n.3165A>G
c.6092A>G (p.Glu2031Gly)
c.6008A>G (p.Glu2003Gly)
c.5978A>G (p.Glu1993Gly)
c.5930A>G (p.Glu1977Gly)
c.5891A>G (p.Glu1964Gly)
c.5816A>G (p.Glu1939Gly)
n.6437A>G
c.6005A>G (p.Glu2002Gly)
c.5975A>G (p.Glu1992Gly)
c.5927A>G (p.Glu1976Gly)
c.5894A>G (p.Glu1965Gly)
c.5864A>G (p.Glu1955Gly)
c.5861A>G (p.Glu1954Gly)
c.5813A>G (p.Glu1938Gly)
c.5777A>G (p.Glu1926Gly)
c.5774A>G (p.Glu1925Gly)
c.5729A>G (p.Glu1910Gly)
n.6394A>G
Xg.77593711T>GCA413702742ATRXc.6095A>C (p.Glu2032Ala)
c.1193A>C (p.Glu398Ala)
c.5981A>C (p.Glu1994Ala)
c.*5723A>C (n.*5723A>C)
c.579A>C
n.3165A>C
c.6092A>C (p.Glu2031Ala)
c.6008A>C (p.Glu2003Ala)
c.5978A>C (p.Glu1993Ala)
c.5930A>C (p.Glu1977Ala)
c.5891A>C (p.Glu1964Ala)
c.5816A>C (p.Glu1939Ala)
n.6437A>C
c.6005A>C (p.Glu2002Ala)
c.5975A>C (p.Glu1992Ala)
c.5927A>C (p.Glu1976Ala)
c.5894A>C (p.Glu1965Ala)
c.5864A>C (p.Glu1955Ala)
c.5861A>C (p.Glu1954Ala)
c.5813A>C (p.Glu1938Ala)
c.5777A>C (p.Glu1926Ala)
c.5774A>C (p.Glu1925Ala)
c.5729A>C (p.Glu1910Ala)
n.6394A>C
Xg.77593712C>ACA413702743ATRXc.6094G>T (p.Glu2032Ter)
c.1192G>T (p.Glu398Ter)
c.5980G>T (p.Glu1994Ter)
c.*5722G>T (n.*5722G>T)
c.578G>T
n.3164G>T
c.6091G>T (p.Glu2031Ter)
c.6007G>T (p.Glu2003Ter)
c.5977G>T (p.Glu1993Ter)
c.5929G>T (p.Glu1977Ter)
c.5890G>T (p.Glu1964Ter)
c.5815G>T (p.Glu1939Ter)
n.6436G>T
c.6004G>T (p.Glu2002Ter)
c.5974G>T (p.Glu1992Ter)
c.5926G>T (p.Glu1976Ter)
c.5893G>T (p.Glu1965Ter)
c.5863G>T (p.Glu1955Ter)
c.5860G>T (p.Glu1954Ter)
c.5812G>T (p.Glu1938Ter)
c.5776G>T (p.Glu1926Ter)
c.5773G>T (p.Glu1925Ter)
c.5728G>T (p.Glu1910Ter)
n.6393G>T
Xg.77593712C>GCA413702745ATRXc.6094G>C (p.Glu2032Gln)
c.1192G>C (p.Glu398Gln)
c.5980G>C (p.Glu1994Gln)
c.*5722G>C (n.*5722G>C)
c.578G>C
n.3164G>C
c.6091G>C (p.Glu2031Gln)
c.6007G>C (p.Glu2003Gln)
c.5977G>C (p.Glu1993Gln)
c.5929G>C (p.Glu1977Gln)
c.5890G>C (p.Glu1964Gln)
c.5815G>C (p.Glu1939Gln)
n.6436G>C
c.6004G>C (p.Glu2002Gln)
c.5974G>C (p.Glu1992Gln)
c.5926G>C (p.Glu1976Gln)
c.5893G>C (p.Glu1965Gln)
c.5863G>C (p.Glu1955Gln)
c.5860G>C (p.Glu1954Gln)
c.5812G>C (p.Glu1938Gln)
c.5776G>C (p.Glu1926Gln)
c.5773G>C (p.Glu1925Gln)
c.5728G>C (p.Glu1910Gln)
n.6393G>C
Xg.77593712C>TCA413702746ATRXc.6094G>A (p.Glu2032Lys)
c.1192G>A (p.Glu398Lys)
c.5980G>A (p.Glu1994Lys)
c.*5722G>A (n.*5722G>A)
c.578G>A
n.3164G>A
c.6091G>A (p.Glu2031Lys)
c.6007G>A (p.Glu2003Lys)
c.5977G>A (p.Glu1993Lys)
c.5929G>A (p.Glu1977Lys)
c.5890G>A (p.Glu1964Lys)
c.5815G>A (p.Glu1939Lys)
n.6436G>A
c.6004G>A (p.Glu2002Lys)
c.5974G>A (p.Glu1992Lys)
c.5926G>A (p.Glu1976Lys)
c.5893G>A (p.Glu1965Lys)
c.5863G>A (p.Glu1955Lys)
c.5860G>A (p.Glu1954Lys)
c.5812G>A (p.Glu1938Lys)
c.5776G>A (p.Glu1926Lys)
c.5773G>A (p.Glu1925Lys)
c.5728G>A (p.Glu1910Lys)
n.6393G>A
 dbSNP
Xg.77593713C>ACA413702749ATRXc.6093G>T (p.Glu2031Asp)
c.1191G>T (p.Glu397Asp)
c.5979G>T (p.Glu1993Asp)
c.*5721G>T (n.*5721G>T)
c.577G>T
n.3163G>T
c.6090G>T (p.Glu2030Asp)
c.6006G>T (p.Glu2002Asp)
c.5976G>T (p.Glu1992Asp)
c.5928G>T (p.Glu1976Asp)
c.5889G>T (p.Glu1963Asp)
c.5814G>T (p.Glu1938Asp)
n.6435G>T
c.6003G>T (p.Glu2001Asp)
c.5973G>T (p.Glu1991Asp)
c.5925G>T (p.Glu1975Asp)
c.5892G>T (p.Glu1964Asp)
c.5862G>T (p.Glu1954Asp)
c.5859G>T (p.Glu1953Asp)
c.5811G>T (p.Glu1937Asp)
c.5775G>T (p.Glu1925Asp)
c.5772G>T (p.Glu1924Asp)
c.5727G>T (p.Glu1909Asp)
n.6392G>T
Xg.77593713C>GCA413702748ATRXc.6093G>C (p.Glu2031Asp)
c.1191G>C (p.Glu397Asp)
c.5979G>C (p.Glu1993Asp)
c.*5721G>C (n.*5721G>C)
c.577G>C
n.3163G>C
c.6090G>C (p.Glu2030Asp)
c.6006G>C (p.Glu2002Asp)
c.5976G>C (p.Glu1992Asp)
c.5928G>C (p.Glu1976Asp)
c.5889G>C (p.Glu1963Asp)
c.5814G>C (p.Glu1938Asp)
n.6435G>C
c.6003G>C (p.Glu2001Asp)
c.5973G>C (p.Glu1991Asp)
c.5925G>C (p.Glu1975Asp)
c.5892G>C (p.Glu1964Asp)
c.5862G>C (p.Glu1954Asp)
c.5859G>C (p.Glu1953Asp)
c.5811G>C (p.Glu1937Asp)
c.5775G>C (p.Glu1925Asp)
c.5772G>C (p.Glu1924Asp)
c.5727G>C (p.Glu1909Asp)
n.6392G>C
Xg.77593713C>TCA517375191ATRXc.6093G>A (p.Glu2031=)
c.1191G>A (p.Glu397=)
c.5979G>A (p.Glu1993=)
c.*5721G>A (n.*5721G>A)
c.577G>A
n.3163G>A
c.6090G>A (p.Glu2030=)
c.6006G>A (p.Glu2002=)
c.5976G>A (p.Glu1992=)
c.5928G>A (p.Glu1976=)
c.5889G>A (p.Glu1963=)
c.5814G>A (p.Glu1938=)
n.6435G>A
c.6003G>A (p.Glu2001=)
c.5973G>A (p.Glu1991=)
c.5925G>A (p.Glu1975=)
c.5892G>A (p.Glu1964=)
c.5862G>A (p.Glu1954=)
c.5859G>A (p.Glu1953=)
c.5811G>A (p.Glu1937=)
c.5775G>A (p.Glu1925=)
c.5772G>A (p.Glu1924=)
c.5727G>A (p.Glu1909=)
n.6392G>A
Xg.77593714T>ACA413702751ATRXc.6092A>T (p.Glu2031Val)
c.1190A>T (p.Glu397Val)
c.5978A>T (p.Glu1993Val)
c.*5720A>T (n.*5720A>T)
c.576A>T
n.3162A>T
c.6089A>T (p.Glu2030Val)
c.6005A>T (p.Glu2002Val)
c.5975A>T (p.Glu1992Val)
c.5927A>T (p.Glu1976Val)
c.5888A>T (p.Glu1963Val)
c.5813A>T (p.Glu1938Val)
n.6434A>T
c.6002A>T (p.Glu2001Val)
c.5972A>T (p.Glu1991Val)
c.5924A>T (p.Glu1975Val)
c.5891A>T (p.Glu1964Val)
c.5861A>T (p.Glu1954Val)
c.5858A>T (p.Glu1953Val)
c.5810A>T (p.Glu1937Val)
c.5774A>T (p.Glu1925Val)
c.5771A>T (p.Glu1924Val)
c.5726A>T (p.Glu1909Val)
n.6391A>T
Xg.77593714T>CCA413702753ATRXc.6092A>G (p.Glu2031Gly)
c.1190A>G (p.Glu397Gly)
c.5978A>G (p.Glu1993Gly)
c.*5720A>G (n.*5720A>G)
c.576A>G
n.3162A>G
c.6089A>G (p.Glu2030Gly)
c.6005A>G (p.Glu2002Gly)
c.5975A>G (p.Glu1992Gly)
c.5927A>G (p.Glu1976Gly)
c.5888A>G (p.Glu1963Gly)
c.5813A>G (p.Glu1938Gly)
n.6434A>G
c.6002A>G (p.Glu2001Gly)
c.5972A>G (p.Glu1991Gly)
c.5924A>G (p.Glu1975Gly)
c.5891A>G (p.Glu1964Gly)
c.5861A>G (p.Glu1954Gly)
c.5858A>G (p.Glu1953Gly)
c.5810A>G (p.Glu1937Gly)
c.5774A>G (p.Glu1925Gly)
c.5771A>G (p.Glu1924Gly)
c.5726A>G (p.Glu1909Gly)
n.6391A>G
Xg.77593714T>GCA413702754ATRXc.6092A>C (p.Glu2031Ala)
c.1190A>C (p.Glu397Ala)
c.5978A>C (p.Glu1993Ala)
c.*5720A>C (n.*5720A>C)
c.576A>C
n.3162A>C
c.6089A>C (p.Glu2030Ala)
c.6005A>C (p.Glu2002Ala)
c.5975A>C (p.Glu1992Ala)
c.5927A>C (p.Glu1976Ala)
c.5888A>C (p.Glu1963Ala)
c.5813A>C (p.Glu1938Ala)
n.6434A>C
c.6002A>C (p.Glu2001Ala)
c.5972A>C (p.Glu1991Ala)
c.5924A>C (p.Glu1975Ala)
c.5891A>C (p.Glu1964Ala)
c.5861A>C (p.Glu1954Ala)
c.5858A>C (p.Glu1953Ala)
c.5810A>C (p.Glu1937Ala)
c.5774A>C (p.Glu1925Ala)
c.5771A>C (p.Glu1924Ala)
c.5726A>C (p.Glu1909Ala)
n.6391A>C
 COSMIC COSMIC
Xg.77593715C>ACA413702756ATRXc.6091G>T (p.Glu2031Ter)
c.1189G>T (p.Glu397Ter)
c.5977G>T (p.Glu1993Ter)
c.*5719G>T (n.*5719G>T)
c.575G>T
n.3161G>T
c.6088G>T (p.Glu2030Ter)
c.6004G>T (p.Glu2002Ter)
c.5974G>T (p.Glu1992Ter)
c.5926G>T (p.Glu1976Ter)
c.5887G>T (p.Glu1963Ter)
c.5812G>T (p.Glu1938Ter)
n.6433G>T
c.6001G>T (p.Glu2001Ter)
c.5971G>T (p.Glu1991Ter)
c.5923G>T (p.Glu1975Ter)
c.5890G>T (p.Glu1964Ter)
c.5860G>T (p.Glu1954Ter)
c.5857G>T (p.Glu1953Ter)
c.5809G>T (p.Glu1937Ter)
c.5773G>T (p.Glu1925Ter)
c.5770G>T (p.Glu1924Ter)
c.5725G>T (p.Glu1909Ter)
n.6390G>T
Xg.77593715C>GCA413702757ATRXc.6091G>C (p.Glu2031Gln)
c.1189G>C (p.Glu397Gln)
c.5977G>C (p.Glu1993Gln)
c.*5719G>C (n.*5719G>C)
c.575G>C
n.3161G>C
c.6088G>C (p.Glu2030Gln)
c.6004G>C (p.Glu2002Gln)
c.5974G>C (p.Glu1992Gln)
c.5926G>C (p.Glu1976Gln)
c.5887G>C (p.Glu1963Gln)
c.5812G>C (p.Glu1938Gln)
n.6433G>C
c.6001G>C (p.Glu2001Gln)
c.5971G>C (p.Glu1991Gln)
c.5923G>C (p.Glu1975Gln)
c.5890G>C (p.Glu1964Gln)
c.5860G>C (p.Glu1954Gln)
c.5857G>C (p.Glu1953Gln)
c.5809G>C (p.Glu1937Gln)
c.5773G>C (p.Glu1925Gln)
c.5770G>C (p.Glu1924Gln)
c.5725G>C (p.Glu1909Gln)
n.6390G>C
Xg.77593715C>TCA413702758ATRXc.6091G>A (p.Glu2031Lys)
c.1189G>A (p.Glu397Lys)
c.5977G>A (p.Glu1993Lys)
c.*5719G>A (n.*5719G>A)
c.575G>A
n.3161G>A
c.6088G>A (p.Glu2030Lys)
c.6004G>A (p.Glu2002Lys)
c.5974G>A (p.Glu1992Lys)
c.5926G>A (p.Glu1976Lys)
c.5887G>A (p.Glu1963Lys)
c.5812G>A (p.Glu1938Lys)
n.6433G>A
c.6001G>A (p.Glu2001Lys)
c.5971G>A (p.Glu1991Lys)
c.5923G>A (p.Glu1975Lys)
c.5890G>A (p.Glu1964Lys)
c.5860G>A (p.Glu1954Lys)
c.5857G>A (p.Glu1953Lys)
c.5809G>A (p.Glu1937Lys)
c.5773G>A (p.Glu1925Lys)
c.5770G>A (p.Glu1924Lys)
c.5725G>A (p.Glu1909Lys)
n.6390G>A
Xg.77593716T>ACA517375192ATRXc.6090A>T (p.Ala2030=)
c.1188A>T (p.Ala396=)
c.5976A>T (p.Ala1992=)
c.*5718A>T (n.*5718A>T)
c.574A>T
n.3160A>T
c.6087A>T (p.Ala2029=)
c.6003A>T (p.Ala2001=)
c.5973A>T (p.Ala1991=)
c.5925A>T (p.Ala1975=)
c.5886A>T (p.Ala1962=)
c.5811A>T (p.Ala1937=)
n.6432A>T
c.6000A>T (p.Ala2000=)
c.5970A>T (p.Ala1990=)
c.5922A>T (p.Ala1974=)
c.5889A>T (p.Ala1963=)
c.5859A>T (p.Ala1953=)
c.5856A>T (p.Ala1952=)
c.5808A>T (p.Ala1936=)
c.5772A>T (p.Ala1924=)
c.5769A>T (p.Ala1923=)
c.5724A>T (p.Ala1908=)
n.6389A>T
Xg.77593716T>CCA517375193ATRXc.6090A>G (p.Ala2030=)
c.1188A>G (p.Ala396=)
c.5976A>G (p.Ala1992=)
c.*5718A>G (n.*5718A>G)
c.574A>G
n.3160A>G
c.6087A>G (p.Ala2029=)
c.6003A>G (p.Ala2001=)
c.5973A>G (p.Ala1991=)
c.5925A>G (p.Ala1975=)
c.5886A>G (p.Ala1962=)
c.5811A>G (p.Ala1937=)
n.6432A>G
c.6000A>G (p.Ala2000=)
c.5970A>G (p.Ala1990=)
c.5922A>G (p.Ala1974=)
c.5889A>G (p.Ala1963=)
c.5859A>G (p.Ala1953=)
c.5856A>G (p.Ala1952=)
c.5808A>G (p.Ala1936=)
c.5772A>G (p.Ala1924=)
c.5769A>G (p.Ala1923=)
c.5724A>G (p.Ala1908=)
n.6389A>G
 gnomAD v4
Xg.77593716T>GCA517375194ATRXc.6090A>C (p.Ala2030=)
c.1188A>C (p.Ala396=)
c.5976A>C (p.Ala1992=)
c.*5718A>C (n.*5718A>C)
c.574A>C
n.3160A>C
c.6087A>C (p.Ala2029=)
c.6003A>C (p.Ala2001=)
c.5973A>C (p.Ala1991=)
c.5925A>C (p.Ala1975=)
c.5886A>C (p.Ala1962=)
c.5811A>C (p.Ala1937=)
n.6432A>C
c.6000A>C (p.Ala2000=)
c.5970A>C (p.Ala1990=)
c.5922A>C (p.Ala1974=)
c.5889A>C (p.Ala1963=)
c.5859A>C (p.Ala1953=)
c.5856A>C (p.Ala1952=)
c.5808A>C (p.Ala1936=)
c.5772A>C (p.Ala1924=)
c.5769A>C (p.Ala1923=)
c.5724A>C (p.Ala1908=)
n.6389A>C
Xg.77593717G>ACA413702760ATRXc.6089C>T (p.Ala2030Val)
c.1187C>T (p.Ala396Val)
c.5975C>T (p.Ala1992Val)
c.*5717C>T (n.*5717C>T)
c.573C>T
n.3159C>T
c.6086C>T (p.Ala2029Val)
c.6002C>T (p.Ala2001Val)
c.5972C>T (p.Ala1991Val)
c.5924C>T (p.Ala1975Val)
c.5885C>T (p.Ala1962Val)
c.5810C>T (p.Ala1937Val)
n.6431C>T
c.5999C>T (p.Ala2000Val)
c.5969C>T (p.Ala1990Val)
c.5921C>T (p.Ala1974Val)
c.5888C>T (p.Ala1963Val)
c.5858C>T (p.Ala1953Val)
c.5855C>T (p.Ala1952Val)
c.5807C>T (p.Ala1936Val)
c.5771C>T (p.Ala1924Val)
c.5768C>T (p.Ala1923Val)
c.5723C>T (p.Ala1908Val)
n.6388C>T
Xg.77593717G>CCA413702766ATRXc.6089C>G (p.Ala2030Gly)
c.1187C>G (p.Ala396Gly)
c.5975C>G (p.Ala1992Gly)
c.*5717C>G (n.*5717C>G)
c.573C>G
n.3159C>G
c.6086C>G (p.Ala2029Gly)
c.6002C>G (p.Ala2001Gly)
c.5972C>G (p.Ala1991Gly)
c.5924C>G (p.Ala1975Gly)
c.5885C>G (p.Ala1962Gly)
c.5810C>G (p.Ala1937Gly)
n.6431C>G
c.5999C>G (p.Ala2000Gly)
c.5969C>G (p.Ala1990Gly)
c.5921C>G (p.Ala1974Gly)
c.5888C>G (p.Ala1963Gly)
c.5858C>G (p.Ala1953Gly)
c.5855C>G (p.Ala1952Gly)
c.5807C>G (p.Ala1936Gly)
c.5771C>G (p.Ala1924Gly)
c.5768C>G (p.Ala1923Gly)
c.5723C>G (p.Ala1908Gly)
n.6388C>G
Xg.77593717G>TCA413702762ATRXc.6089C>A (p.Ala2030Glu)
c.1187C>A (p.Ala396Glu)
c.5975C>A (p.Ala1992Glu)
c.*5717C>A (n.*5717C>A)
c.573C>A
n.3159C>A
c.6086C>A (p.Ala2029Glu)
c.6002C>A (p.Ala2001Glu)
c.5972C>A (p.Ala1991Glu)
c.5924C>A (p.Ala1975Glu)
c.5885C>A (p.Ala1962Glu)
c.5810C>A (p.Ala1937Glu)
n.6431C>A
c.5999C>A (p.Ala2000Glu)
c.5969C>A (p.Ala1990Glu)
c.5921C>A (p.Ala1974Glu)
c.5888C>A (p.Ala1963Glu)
c.5858C>A (p.Ala1953Glu)
c.5855C>A (p.Ala1952Glu)
c.5807C>A (p.Ala1936Glu)
c.5771C>A (p.Ala1924Glu)
c.5768C>A (p.Ala1923Glu)
c.5723C>A (p.Ala1908Glu)
n.6388C>A
Xg.77593718C>ACA413702767ATRXc.6088G>T (p.Ala2030Ser)
c.1186G>T (p.Ala396Ser)
c.5974G>T (p.Ala1992Ser)
c.*5716G>T (n.*5716G>T)
c.572G>T
n.3158G>T
c.6085G>T (p.Ala2029Ser)
c.6001G>T (p.Ala2001Ser)
c.5971G>T (p.Ala1991Ser)
c.5923G>T (p.Ala1975Ser)
c.5884G>T (p.Ala1962Ser)
c.5809G>T (p.Ala1937Ser)
n.6430G>T
c.5998G>T (p.Ala2000Ser)
c.5968G>T (p.Ala1990Ser)
c.5920G>T (p.Ala1974Ser)
c.5887G>T (p.Ala1963Ser)
c.5857G>T (p.Ala1953Ser)
c.5854G>T (p.Ala1952Ser)
c.5806G>T (p.Ala1936Ser)
c.5770G>T (p.Ala1924Ser)
c.5767G>T (p.Ala1923Ser)
c.5722G>T (p.Ala1908Ser)
n.6387G>T
Xg.77593718C>GCA413702768ATRXc.6088G>C (p.Ala2030Pro)
c.1186G>C (p.Ala396Pro)
c.5974G>C (p.Ala1992Pro)
c.*5716G>C (n.*5716G>C)
c.572G>C
n.3158G>C
c.6085G>C (p.Ala2029Pro)
c.6001G>C (p.Ala2001Pro)
c.5971G>C (p.Ala1991Pro)
c.5923G>C (p.Ala1975Pro)
c.5884G>C (p.Ala1962Pro)
c.5809G>C (p.Ala1937Pro)
n.6430G>C
c.5998G>C (p.Ala2000Pro)
c.5968G>C (p.Ala1990Pro)
c.5920G>C (p.Ala1974Pro)
c.5887G>C (p.Ala1963Pro)
c.5857G>C (p.Ala1953Pro)
c.5854G>C (p.Ala1952Pro)
c.5806G>C (p.Ala1936Pro)
c.5770G>C (p.Ala1924Pro)
c.5767G>C (p.Ala1923Pro)
c.5722G>C (p.Ala1908Pro)
n.6387G>C
Xg.77593718C>TCA413702770ATRXc.6088G>A (p.Ala2030Thr)
c.1186G>A (p.Ala396Thr)
c.5974G>A (p.Ala1992Thr)
c.*5716G>A (n.*5716G>A)
c.572G>A
n.3158G>A
c.6085G>A (p.Ala2029Thr)
c.6001G>A (p.Ala2001Thr)
c.5971G>A (p.Ala1991Thr)
c.5923G>A (p.Ala1975Thr)
c.5884G>A (p.Ala1962Thr)
c.5809G>A (p.Ala1937Thr)
n.6430G>A
c.5998G>A (p.Ala2000Thr)
c.5968G>A (p.Ala1990Thr)
c.5920G>A (p.Ala1974Thr)
c.5887G>A (p.Ala1963Thr)
c.5857G>A (p.Ala1953Thr)
c.5854G>A (p.Ala1952Thr)
c.5806G>A (p.Ala1936Thr)
c.5770G>A (p.Ala1924Thr)
c.5767G>A (p.Ala1923Thr)
c.5722G>A (p.Ala1908Thr)
n.6387G>A
 dbSNP
Xg.77593719C>ACA413702771ATRXc.6087G>T (p.Met2029Ile)
c.1185G>T (p.Met395Ile)
c.5973G>T (p.Met1991Ile)
c.*5715G>T (n.*5715G>T)
c.571G>T
n.3157G>T
c.6084G>T (p.Met2028Ile)
c.6000G>T (p.Met2000Ile)
c.5970G>T (p.Met1990Ile)
c.5922G>T (p.Met1974Ile)
c.5883G>T (p.Met1961Ile)
c.5808G>T (p.Met1936Ile)
n.6429G>T
c.5997G>T (p.Met1999Ile)
c.5967G>T (p.Met1989Ile)
c.5919G>T (p.Met1973Ile)
c.5886G>T (p.Met1962Ile)
c.5856G>T (p.Met1952Ile)
c.5853G>T (p.Met1951Ile)
c.5805G>T (p.Met1935Ile)
c.5769G>T (p.Met1923Ile)
c.5766G>T (p.Met1922Ile)
c.5721G>T (p.Met1907Ile)
n.6386G>T
Xg.77593719C>GCA413702772ATRXc.6087G>C (p.Met2029Ile)
c.1185G>C (p.Met395Ile)
c.5973G>C (p.Met1991Ile)
c.*5715G>C (n.*5715G>C)
c.571G>C
n.3157G>C
c.6084G>C (p.Met2028Ile)
c.6000G>C (p.Met2000Ile)
c.5970G>C (p.Met1990Ile)
c.5922G>C (p.Met1974Ile)
c.5883G>C (p.Met1961Ile)
c.5808G>C (p.Met1936Ile)
n.6429G>C
c.5997G>C (p.Met1999Ile)
c.5967G>C (p.Met1989Ile)
c.5919G>C (p.Met1973Ile)
c.5886G>C (p.Met1962Ile)
c.5856G>C (p.Met1952Ile)
c.5853G>C (p.Met1951Ile)
c.5805G>C (p.Met1935Ile)
c.5769G>C (p.Met1923Ile)
c.5766G>C (p.Met1922Ile)
c.5721G>C (p.Met1907Ile)
n.6386G>C
Xg.77593719C>TCA413702773ATRXc.6087G>A (p.Met2029Ile)
c.1185G>A (p.Met395Ile)
c.5973G>A (p.Met1991Ile)
c.*5715G>A (n.*5715G>A)
c.571G>A
n.3157G>A
c.6084G>A (p.Met2028Ile)
c.6000G>A (p.Met2000Ile)
c.5970G>A (p.Met1990Ile)
c.5922G>A (p.Met1974Ile)
c.5883G>A (p.Met1961Ile)
c.5808G>A (p.Met1936Ile)
n.6429G>A
c.5997G>A (p.Met1999Ile)
c.5967G>A (p.Met1989Ile)
c.5919G>A (p.Met1973Ile)
c.5886G>A (p.Met1962Ile)
c.5856G>A (p.Met1952Ile)
c.5853G>A (p.Met1951Ile)
c.5805G>A (p.Met1935Ile)
c.5769G>A (p.Met1923Ile)
c.5766G>A (p.Met1922Ile)
c.5721G>A (p.Met1907Ile)
n.6386G>A
Xg.77593720A>CCA413702774ATRXc.6086T>G (p.Met2029Arg)
c.1184T>G (p.Met395Arg)
c.5972T>G (p.Met1991Arg)
c.*5714T>G (n.*5714T>G)
c.570T>G
n.3156T>G
c.6083T>G (p.Met2028Arg)
c.5999T>G (p.Met2000Arg)
c.5969T>G (p.Met1990Arg)
c.5921T>G (p.Met1974Arg)
c.5882T>G (p.Met1961Arg)
c.5807T>G (p.Met1936Arg)
n.6428T>G
c.5996T>G (p.Met1999Arg)
c.5966T>G (p.Met1989Arg)
c.5918T>G (p.Met1973Arg)
c.5885T>G (p.Met1962Arg)
c.5855T>G (p.Met1952Arg)
c.5852T>G (p.Met1951Arg)
c.5804T>G (p.Met1935Arg)
c.5768T>G (p.Met1923Arg)
c.5765T>G (p.Met1922Arg)
c.5720T>G (p.Met1907Arg)
n.6385T>G
Xg.77593720A>GCA413702775ATRXc.6086T>C (p.Met2029Thr)
c.1184T>C (p.Met395Thr)
c.5972T>C (p.Met1991Thr)
c.*5714T>C (n.*5714T>C)
c.570T>C
n.3156T>C
c.6083T>C (p.Met2028Thr)
c.5999T>C (p.Met2000Thr)
c.5969T>C (p.Met1990Thr)
c.5921T>C (p.Met1974Thr)
c.5882T>C (p.Met1961Thr)
c.5807T>C (p.Met1936Thr)
n.6428T>C
c.5996T>C (p.Met1999Thr)
c.5966T>C (p.Met1989Thr)
c.5918T>C (p.Met1973Thr)
c.5885T>C (p.Met1962Thr)
c.5855T>C (p.Met1952Thr)
c.5852T>C (p.Met1951Thr)
c.5804T>C (p.Met1935Thr)
c.5768T>C (p.Met1923Thr)
c.5765T>C (p.Met1922Thr)
c.5720T>C (p.Met1907Thr)
n.6385T>C
 dbSNP
Xg.77593720A>TCA413702776ATRXc.6086T>A (p.Met2029Lys)
c.1184T>A (p.Met395Lys)
c.5972T>A (p.Met1991Lys)
c.*5714T>A (n.*5714T>A)
c.570T>A
n.3156T>A
c.6083T>A (p.Met2028Lys)
c.5999T>A (p.Met2000Lys)
c.5969T>A (p.Met1990Lys)
c.5921T>A (p.Met1974Lys)
c.5882T>A (p.Met1961Lys)
c.5807T>A (p.Met1936Lys)
n.6428T>A
c.5996T>A (p.Met1999Lys)
c.5966T>A (p.Met1989Lys)
c.5918T>A (p.Met1973Lys)
c.5885T>A (p.Met1962Lys)
c.5855T>A (p.Met1952Lys)
c.5852T>A (p.Met1951Lys)
c.5804T>A (p.Met1935Lys)
c.5768T>A (p.Met1923Lys)
c.5765T>A (p.Met1922Lys)
c.5720T>A (p.Met1907Lys)
n.6385T>A
Xg.77593721T>ACA413702777ATRXc.6085A>T (p.Met2029Leu)
c.1183A>T (p.Met395Leu)
c.5971A>T (p.Met1991Leu)
c.*5713A>T (n.*5713A>T)
c.569A>T
n.3155A>T
c.6082A>T (p.Met2028Leu)
c.5998A>T (p.Met2000Leu)
c.5968A>T (p.Met1990Leu)
c.5920A>T (p.Met1974Leu)
c.5881A>T (p.Met1961Leu)
c.5806A>T (p.Met1936Leu)
n.6427A>T
c.5995A>T (p.Met1999Leu)
c.5965A>T (p.Met1989Leu)
c.5917A>T (p.Met1973Leu)
c.5884A>T (p.Met1962Leu)
c.5854A>T (p.Met1952Leu)
c.5851A>T (p.Met1951Leu)
c.5803A>T (p.Met1935Leu)
c.5767A>T (p.Met1923Leu)
c.5764A>T (p.Met1922Leu)
c.5719A>T (p.Met1907Leu)
n.6384A>T
Xg.77593721T>CCA413702779ATRXc.6085A>G (p.Met2029Val)
c.1183A>G (p.Met395Val)
c.5971A>G (p.Met1991Val)
c.*5713A>G (n.*5713A>G)
c.569A>G
n.3155A>G
c.6082A>G (p.Met2028Val)
c.5998A>G (p.Met2000Val)
c.5968A>G (p.Met1990Val)
c.5920A>G (p.Met1974Val)
c.5881A>G (p.Met1961Val)
c.5806A>G (p.Met1936Val)
n.6427A>G
c.5995A>G (p.Met1999Val)
c.5965A>G (p.Met1989Val)
c.5917A>G (p.Met1973Val)
c.5884A>G (p.Met1962Val)
c.5854A>G (p.Met1952Val)
c.5851A>G (p.Met1951Val)
c.5803A>G (p.Met1935Val)
c.5767A>G (p.Met1923Val)
c.5764A>G (p.Met1922Val)
c.5719A>G (p.Met1907Val)
n.6384A>G
 ClinVar dbSNP
Xg.77593721T>GCA413702780ATRXc.6085A>C (p.Met2029Leu)
c.1183A>C (p.Met395Leu)
c.5971A>C (p.Met1991Leu)
c.*5713A>C (n.*5713A>C)
c.569A>C
n.3155A>C
c.6082A>C (p.Met2028Leu)
c.5998A>C (p.Met2000Leu)
c.5968A>C (p.Met1990Leu)
c.5920A>C (p.Met1974Leu)
c.5881A>C (p.Met1961Leu)
c.5806A>C (p.Met1936Leu)
n.6427A>C
c.5995A>C (p.Met1999Leu)
c.5965A>C (p.Met1989Leu)
c.5917A>C (p.Met1973Leu)
c.5884A>C (p.Met1962Leu)
c.5854A>C (p.Met1952Leu)
c.5851A>C (p.Met1951Leu)
c.5803A>C (p.Met1935Leu)
c.5767A>C (p.Met1923Leu)
c.5764A>C (p.Met1922Leu)
c.5719A>C (p.Met1907Leu)
n.6384A>C
Xg.77593722T>ACA517375195ATRXc.6084A>T (p.Arg2028=)
c.1182A>T (p.Arg394=)
c.5970A>T (p.Arg1990=)
c.*5712A>T (n.*5712A>T)
c.568A>T
n.3154A>T
c.6081A>T (p.Arg2027=)
c.5997A>T (p.Arg1999=)
c.5967A>T (p.Arg1989=)
c.5919A>T (p.Arg1973=)
c.5880A>T (p.Arg1960=)
c.5805A>T (p.Arg1935=)
n.6426A>T
c.5994A>T (p.Arg1998=)
c.5964A>T (p.Arg1988=)
c.5916A>T (p.Arg1972=)
c.5883A>T (p.Arg1961=)
c.5853A>T (p.Arg1951=)
c.5850A>T (p.Arg1950=)
c.5802A>T (p.Arg1934=)
c.5766A>T (p.Arg1922=)
c.5763A>T (p.Arg1921=)
c.5718A>T (p.Arg1906=)
n.6383A>T
Xg.77593722T>CCA517375196ATRXc.6084A>G (p.Arg2028=)
c.1182A>G (p.Arg394=)
c.5970A>G (p.Arg1990=)
c.*5712A>G (n.*5712A>G)
c.568A>G
n.3154A>G
c.6081A>G (p.Arg2027=)
c.5997A>G (p.Arg1999=)
c.5967A>G (p.Arg1989=)
c.5919A>G (p.Arg1973=)
c.5880A>G (p.Arg1960=)
c.5805A>G (p.Arg1935=)
n.6426A>G
c.5994A>G (p.Arg1998=)
c.5964A>G (p.Arg1988=)
c.5916A>G (p.Arg1972=)
c.5883A>G (p.Arg1961=)
c.5853A>G (p.Arg1951=)
c.5850A>G (p.Arg1950=)
c.5802A>G (p.Arg1934=)
c.5766A>G (p.Arg1922=)
c.5763A>G (p.Arg1921=)
c.5718A>G (p.Arg1906=)
n.6383A>G
 gnomAD v4
Xg.77593722T>GCA517375197ATRXc.6084A>C (p.Arg2028=)
c.1182A>C (p.Arg394=)
c.5970A>C (p.Arg1990=)
c.*5712A>C (n.*5712A>C)
c.568A>C
n.3154A>C
c.6081A>C (p.Arg2027=)
c.5997A>C (p.Arg1999=)
c.5967A>C (p.Arg1989=)
c.5919A>C (p.Arg1973=)
c.5880A>C (p.Arg1960=)
c.5805A>C (p.Arg1935=)
n.6426A>C
c.5994A>C (p.Arg1998=)
c.5964A>C (p.Arg1988=)
c.5916A>C (p.Arg1972=)
c.5883A>C (p.Arg1961=)
c.5853A>C (p.Arg1951=)
c.5850A>C (p.Arg1950=)
c.5802A>C (p.Arg1934=)
c.5766A>C (p.Arg1922=)
c.5763A>C (p.Arg1921=)
c.5718A>C (p.Arg1906=)
n.6383A>C
Xg.77593723C>ACA413702783ATRXc.6083G>T (p.Arg2028Leu)
c.1181G>T (p.Arg394Leu)
c.5969G>T (p.Arg1990Leu)
c.*5711G>T (n.*5711G>T)
c.567G>T
n.3153G>T
c.6080G>T (p.Arg2027Leu)
c.5996G>T (p.Arg1999Leu)
c.5966G>T (p.Arg1989Leu)
c.5918G>T (p.Arg1973Leu)
c.5879G>T (p.Arg1960Leu)
c.5804G>T (p.Arg1935Leu)
n.6425G>T
c.5993G>T (p.Arg1998Leu)
c.5963G>T (p.Arg1988Leu)
c.5915G>T (p.Arg1972Leu)
c.5882G>T (p.Arg1961Leu)
c.5852G>T (p.Arg1951Leu)
c.5849G>T (p.Arg1950Leu)
c.5801G>T (p.Arg1934Leu)
c.5765G>T (p.Arg1922Leu)
c.5762G>T (p.Arg1921Leu)
c.5717G>T (p.Arg1906Leu)
n.6382G>T
 gnomAD v4
Xg.77593723C=CA2438957774ATRXc.6083G= (p.Arg2028=)
c.1181G= (p.Arg394=)
c.5969G= (p.Arg1990=)
c.*5711G= (n.*5711G=)
c.567G=
n.3153G=
c.6080G= (p.Arg2027=)
c.5996G= (p.Arg1999=)
c.5966G= (p.Arg1989=)
c.5918G= (p.Arg1973=)
c.5879G= (p.Arg1960=)
c.5804G= (p.Arg1935=)
n.6425G=
c.5993G= (p.Arg1998=)
c.5963G= (p.Arg1988=)
c.5915G= (p.Arg1972=)
c.5882G= (p.Arg1961=)
c.5852G= (p.Arg1951=)
c.5849G= (p.Arg1950=)
c.5801G= (p.Arg1934=)
c.5765G= (p.Arg1922=)
c.5762G= (p.Arg1921=)
c.5717G= (p.Arg1906=)
n.6382G=
Xg.77593723C>GCA413702784ATRXc.6083G>C (p.Arg2028Pro)
c.1181G>C (p.Arg394Pro)
c.5969G>C (p.Arg1990Pro)
c.*5711G>C (n.*5711G>C)
c.567G>C
n.3153G>C
c.6080G>C (p.Arg2027Pro)
c.5996G>C (p.Arg1999Pro)
c.5966G>C (p.Arg1989Pro)
c.5918G>C (p.Arg1973Pro)
c.5879G>C (p.Arg1960Pro)
c.5804G>C (p.Arg1935Pro)
n.6425G>C
c.5993G>C (p.Arg1998Pro)
c.5963G>C (p.Arg1988Pro)
c.5915G>C (p.Arg1972Pro)
c.5882G>C (p.Arg1961Pro)
c.5852G>C (p.Arg1951Pro)
c.5849G>C (p.Arg1950Pro)
c.5801G>C (p.Arg1934Pro)
c.5765G>C (p.Arg1922Pro)
c.5762G>C (p.Arg1921Pro)
c.5717G>C (p.Arg1906Pro)
n.6382G>C
 COSMIC COSMIC
Xg.77593723C>TCA413702782ATRXc.6083G>A (p.Arg2028Gln)
c.1181G>A (p.Arg394Gln)
c.5969G>A (p.Arg1990Gln)
c.*5711G>A (n.*5711G>A)
c.567G>A
n.3153G>A
c.6080G>A (p.Arg2027Gln)
c.5996G>A (p.Arg1999Gln)
c.5966G>A (p.Arg1989Gln)
c.5918G>A (p.Arg1973Gln)
c.5879G>A (p.Arg1960Gln)
c.5804G>A (p.Arg1935Gln)
n.6425G>A
c.5993G>A (p.Arg1998Gln)
c.5963G>A (p.Arg1988Gln)
c.5915G>A (p.Arg1972Gln)
c.5882G>A (p.Arg1961Gln)
c.5852G>A (p.Arg1951Gln)
c.5849G>A (p.Arg1950Gln)
c.5801G>A (p.Arg1934Gln)
c.5765G>A (p.Arg1922Gln)
c.5762G>A (p.Arg1921Gln)
c.5717G>A (p.Arg1906Gln)
n.6382G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.77593724G>ACA413702788ATRXc.6082C>T (p.Arg2028Ter)
c.1180C>T (p.Arg394Ter)
c.5968C>T (p.Arg1990Ter)
c.*5710C>T (n.*5710C>T)
c.566C>T
n.3152C>T
c.6079C>T (p.Arg2027Ter)
c.5995C>T (p.Arg1999Ter)
c.5965C>T (p.Arg1989Ter)
c.5917C>T (p.Arg1973Ter)
c.5878C>T (p.Arg1960Ter)
c.5803C>T (p.Arg1935Ter)
n.6424C>T
c.5992C>T (p.Arg1998Ter)
c.5962C>T (p.Arg1988Ter)
c.5914C>T (p.Arg1972Ter)
c.5881C>T (p.Arg1961Ter)
c.5851C>T (p.Arg1951Ter)
c.5848C>T (p.Arg1950Ter)
c.5800C>T (p.Arg1934Ter)
c.5764C>T (p.Arg1922Ter)
c.5761C>T (p.Arg1921Ter)
c.5716C>T (p.Arg1906Ter)
n.6381C>T
 dbSNP
Xg.77593724G>CCA413702786ATRXc.6082C>G (p.Arg2028Gly)
c.1180C>G (p.Arg394Gly)
c.5968C>G (p.Arg1990Gly)
c.*5710C>G (n.*5710C>G)
c.566C>G
n.3152C>G
c.6079C>G (p.Arg2027Gly)
c.5995C>G (p.Arg1999Gly)
c.5965C>G (p.Arg1989Gly)
c.5917C>G (p.Arg1973Gly)
c.5878C>G (p.Arg1960Gly)
c.5803C>G (p.Arg1935Gly)
n.6424C>G
c.5992C>G (p.Arg1998Gly)
c.5962C>G (p.Arg1988Gly)
c.5914C>G (p.Arg1972Gly)
c.5881C>G (p.Arg1961Gly)
c.5851C>G (p.Arg1951Gly)
c.5848C>G (p.Arg1950Gly)
c.5800C>G (p.Arg1934Gly)
c.5764C>G (p.Arg1922Gly)
c.5761C>G (p.Arg1921Gly)
c.5716C>G (p.Arg1906Gly)
n.6381C>G
Xg.77593724G>TCA517375198ATRXc.6082C>A (p.Arg2028=)
c.1180C>A (p.Arg394=)
c.5968C>A (p.Arg1990=)
c.*5710C>A (n.*5710C>A)
c.566C>A
n.3152C>A
c.6079C>A (p.Arg2027=)
c.5995C>A (p.Arg1999=)
c.5965C>A (p.Arg1989=)
c.5917C>A (p.Arg1973=)
c.5878C>A (p.Arg1960=)
c.5803C>A (p.Arg1935=)
n.6424C>A
c.5992C>A (p.Arg1998=)
c.5962C>A (p.Arg1988=)
c.5914C>A (p.Arg1972=)
c.5881C>A (p.Arg1961=)
c.5851C>A (p.Arg1951=)
c.5848C>A (p.Arg1950=)
c.5800C>A (p.Arg1934=)
c.5764C>A (p.Arg1922=)
c.5761C>A (p.Arg1921=)
c.5716C>A (p.Arg1906=)
n.6381C>A
Xg.77593725A=CA2438957775ATRXc.6081T= (p.Leu2027=)
c.1179T= (p.Leu393=)
c.5967T= (p.Leu1989=)
c.*5709T= (n.*5709T=)
c.565T=
n.3151T=
c.6078T= (p.Leu2026=)
c.5994T= (p.Leu1998=)
c.5964T= (p.Leu1988=)
c.5916T= (p.Leu1972=)
c.5877T= (p.Leu1959=)
c.5802T= (p.Leu1934=)
n.6423T=
c.5991T= (p.Leu1997=)
c.5961T= (p.Leu1987=)
c.5913T= (p.Leu1971=)
c.5880T= (p.Leu1960=)
c.5850T= (p.Leu1950=)
c.5847T= (p.Leu1949=)
c.5799T= (p.Leu1933=)
c.5763T= (p.Leu1921=)
c.5760T= (p.Leu1920=)
c.5715T= (p.Leu1905=)
n.6380T=
Xg.77593725A>CCA331564498ATRXc.6081T>G (p.Leu2027=)
c.1179T>G (p.Leu393=)
c.5967T>G (p.Leu1989=)
c.*5709T>G (n.*5709T>G)
c.565T>G
n.3151T>G
c.6078T>G (p.Leu2026=)
c.5994T>G (p.Leu1998=)
c.5964T>G (p.Leu1988=)
c.5916T>G (p.Leu1972=)
c.5877T>G (p.Leu1959=)
c.5802T>G (p.Leu1934=)
n.6423T>G
c.5991T>G (p.Leu1997=)
c.5961T>G (p.Leu1987=)
c.5913T>G (p.Leu1971=)
c.5880T>G (p.Leu1960=)
c.5850T>G (p.Leu1950=)
c.5847T>G (p.Leu1949=)
c.5799T>G (p.Leu1933=)
c.5763T>G (p.Leu1921=)
c.5760T>G (p.Leu1920=)
c.5715T>G (p.Leu1905=)
n.6380T>G
 dbSNP gnomAD v2 gnomAD v4
Xg.77593725A>GCA517375199ATRXc.6081T>C (p.Leu2027=)
c.1179T>C (p.Leu393=)
c.5967T>C (p.Leu1989=)
c.*5709T>C (n.*5709T>C)
c.565T>C
n.3151T>C
c.6078T>C (p.Leu2026=)
c.5994T>C (p.Leu1998=)
c.5964T>C (p.Leu1988=)
c.5916T>C (p.Leu1972=)
c.5877T>C (p.Leu1959=)
c.5802T>C (p.Leu1934=)
n.6423T>C
c.5991T>C (p.Leu1997=)
c.5961T>C (p.Leu1987=)
c.5913T>C (p.Leu1971=)
c.5880T>C (p.Leu1960=)
c.5850T>C (p.Leu1950=)
c.5847T>C (p.Leu1949=)
c.5799T>C (p.Leu1933=)
c.5763T>C (p.Leu1921=)
c.5760T>C (p.Leu1920=)
c.5715T>C (p.Leu1905=)
n.6380T>C
Xg.77593725A>TCA517375200ATRXc.6081T>A (p.Leu2027=)
c.1179T>A (p.Leu393=)
c.5967T>A (p.Leu1989=)
c.*5709T>A (n.*5709T>A)
c.565T>A
n.3151T>A
c.6078T>A (p.Leu2026=)
c.5994T>A (p.Leu1998=)
c.5964T>A (p.Leu1988=)
c.5916T>A (p.Leu1972=)
c.5877T>A (p.Leu1959=)
c.5802T>A (p.Leu1934=)
n.6423T>A
c.5991T>A (p.Leu1997=)
c.5961T>A (p.Leu1987=)
c.5913T>A (p.Leu1971=)
c.5880T>A (p.Leu1960=)
c.5850T>A (p.Leu1950=)
c.5847T>A (p.Leu1949=)
c.5799T>A (p.Leu1933=)
c.5763T>A (p.Leu1921=)
c.5760T>A (p.Leu1920=)
c.5715T>A (p.Leu1905=)
n.6380T>A
Xg.77593726A>CCA413702793ATRXc.6080T>G (p.Leu2027Arg)
c.1178T>G (p.Leu393Arg)
c.5966T>G (p.Leu1989Arg)
c.*5708T>G (n.*5708T>G)
c.564T>G
n.3150T>G
c.6077T>G (p.Leu2026Arg)
c.5993T>G (p.Leu1998Arg)
c.5963T>G (p.Leu1988Arg)
c.5915T>G (p.Leu1972Arg)
c.5876T>G (p.Leu1959Arg)
c.5801T>G (p.Leu1934Arg)
n.6422T>G
c.5990T>G (p.Leu1997Arg)
c.5960T>G (p.Leu1987Arg)
c.5912T>G (p.Leu1971Arg)
c.5879T>G (p.Leu1960Arg)
c.5849T>G (p.Leu1950Arg)
c.5846T>G (p.Leu1949Arg)
c.5798T>G (p.Leu1933Arg)
c.5762T>G (p.Leu1921Arg)
c.5759T>G (p.Leu1920Arg)
c.5714T>G (p.Leu1905Arg)
n.6379T>G
Xg.77593726A>GCA413702790ATRXc.6080T>C (p.Leu2027Pro)
c.1178T>C (p.Leu393Pro)
c.5966T>C (p.Leu1989Pro)
c.*5708T>C (n.*5708T>C)
c.564T>C
n.3150T>C
c.6077T>C (p.Leu2026Pro)
c.5993T>C (p.Leu1998Pro)
c.5963T>C (p.Leu1988Pro)
c.5915T>C (p.Leu1972Pro)
c.5876T>C (p.Leu1959Pro)
c.5801T>C (p.Leu1934Pro)
n.6422T>C
c.5990T>C (p.Leu1997Pro)
c.5960T>C (p.Leu1987Pro)
c.5912T>C (p.Leu1971Pro)
c.5879T>C (p.Leu1960Pro)
c.5849T>C (p.Leu1950Pro)
c.5846T>C (p.Leu1949Pro)
c.5798T>C (p.Leu1933Pro)
c.5762T>C (p.Leu1921Pro)
c.5759T>C (p.Leu1920Pro)
c.5714T>C (p.Leu1905Pro)
n.6379T>C
 COSMIC COSMIC
Xg.77593726A>TCA413702791ATRXc.6080T>A (p.Leu2027His)
c.1178T>A (p.Leu393His)
c.5966T>A (p.Leu1989His)
c.*5708T>A (n.*5708T>A)
c.564T>A
n.3150T>A
c.6077T>A (p.Leu2026His)
c.5993T>A (p.Leu1998His)
c.5963T>A (p.Leu1988His)
c.5915T>A (p.Leu1972His)
c.5876T>A (p.Leu1959His)
c.5801T>A (p.Leu1934His)
n.6422T>A
c.5990T>A (p.Leu1997His)
c.5960T>A (p.Leu1987His)
c.5912T>A (p.Leu1971His)
c.5879T>A (p.Leu1960His)
c.5849T>A (p.Leu1950His)
c.5846T>A (p.Leu1949His)
c.5798T>A (p.Leu1933His)
c.5762T>A (p.Leu1921His)
c.5759T>A (p.Leu1920His)
c.5714T>A (p.Leu1905His)
n.6379T>A
Xg.77593727G>ACA413702796ATRXc.6079C>T (p.Leu2027Phe)
c.1177C>T (p.Leu393Phe)
c.5965C>T (p.Leu1989Phe)
c.*5707C>T (n.*5707C>T)
c.563C>T
n.3149C>T
c.6076C>T (p.Leu2026Phe)
c.5992C>T (p.Leu1998Phe)
c.5962C>T (p.Leu1988Phe)
c.5914C>T (p.Leu1972Phe)
c.5875C>T (p.Leu1959Phe)
c.5800C>T (p.Leu1934Phe)
n.6421C>T
c.5989C>T (p.Leu1997Phe)
c.5959C>T (p.Leu1987Phe)
c.5911C>T (p.Leu1971Phe)
c.5878C>T (p.Leu1960Phe)
c.5848C>T (p.Leu1950Phe)
c.5845C>T (p.Leu1949Phe)
c.5797C>T (p.Leu1933Phe)
c.5761C>T (p.Leu1921Phe)
c.5758C>T (p.Leu1920Phe)
c.5713C>T (p.Leu1905Phe)
n.6378C>T
 dbSNP
Xg.77593727G>CCA413702797ATRXc.6079C>G (p.Leu2027Val)
c.1177C>G (p.Leu393Val)
c.5965C>G (p.Leu1989Val)
c.*5707C>G (n.*5707C>G)
c.563C>G
n.3149C>G
c.6076C>G (p.Leu2026Val)
c.5992C>G (p.Leu1998Val)
c.5962C>G (p.Leu1988Val)
c.5914C>G (p.Leu1972Val)
c.5875C>G (p.Leu1959Val)
c.5800C>G (p.Leu1934Val)
n.6421C>G
c.5989C>G (p.Leu1997Val)
c.5959C>G (p.Leu1987Val)
c.5911C>G (p.Leu1971Val)
c.5878C>G (p.Leu1960Val)
c.5848C>G (p.Leu1950Val)
c.5845C>G (p.Leu1949Val)
c.5797C>G (p.Leu1933Val)
c.5761C>G (p.Leu1921Val)
c.5758C>G (p.Leu1920Val)
c.5713C>G (p.Leu1905Val)
n.6378C>G
 gnomAD v4
Xg.77593727G>TCA413702801ATRXc.6079C>A (p.Leu2027Ile)
c.1177C>A (p.Leu393Ile)
c.5965C>A (p.Leu1989Ile)
c.*5707C>A (n.*5707C>A)
c.563C>A
n.3149C>A
c.6076C>A (p.Leu2026Ile)
c.5992C>A (p.Leu1998Ile)
c.5962C>A (p.Leu1988Ile)
c.5914C>A (p.Leu1972Ile)
c.5875C>A (p.Leu1959Ile)
c.5800C>A (p.Leu1934Ile)
n.6421C>A
c.5989C>A (p.Leu1997Ile)
c.5959C>A (p.Leu1987Ile)
c.5911C>A (p.Leu1971Ile)
c.5878C>A (p.Leu1960Ile)
c.5848C>A (p.Leu1950Ile)
c.5845C>A (p.Leu1949Ile)
c.5797C>A (p.Leu1933Ile)
c.5761C>A (p.Leu1921Ile)
c.5758C>A (p.Leu1920Ile)
c.5713C>A (p.Leu1905Ile)
n.6378C>A
Xg.77593728A>CCA413702802ATRXc.6078T>G (p.Ile2026Met)
c.1176T>G (p.Ile392Met)
c.5964T>G (p.Ile1988Met)
c.*5706T>G (n.*5706T>G)
c.562T>G
n.3148T>G
c.6075T>G (p.Ile2025Met)
c.5991T>G (p.Ile1997Met)
c.5961T>G (p.Ile1987Met)
c.5913T>G (p.Ile1971Met)
c.5874T>G (p.Ile1958Met)
c.5799T>G (p.Ile1933Met)
n.6420T>G
c.5988T>G (p.Ile1996Met)
c.5958T>G (p.Ile1986Met)
c.5910T>G (p.Ile1970Met)
c.5877T>G (p.Ile1959Met)
c.5847T>G (p.Ile1949Met)
c.5844T>G (p.Ile1948Met)
c.5796T>G (p.Ile1932Met)
c.5760T>G (p.Ile1920Met)
c.5757T>G (p.Ile1919Met)
c.5712T>G (p.Ile1904Met)
n.6377T>G
Xg.77593728A>GCA517375201ATRXc.6078T>C (p.Ile2026=)
c.1176T>C (p.Ile392=)
c.5964T>C (p.Ile1988=)
c.*5706T>C (n.*5706T>C)
c.562T>C
n.3148T>C
c.6075T>C (p.Ile2025=)
c.5991T>C (p.Ile1997=)
c.5961T>C (p.Ile1987=)
c.5913T>C (p.Ile1971=)
c.5874T>C (p.Ile1958=)
c.5799T>C (p.Ile1933=)
n.6420T>C
c.5988T>C (p.Ile1996=)
c.5958T>C (p.Ile1986=)
c.5910T>C (p.Ile1970=)
c.5877T>C (p.Ile1959=)
c.5847T>C (p.Ile1949=)
c.5844T>C (p.Ile1948=)
c.5796T>C (p.Ile1932=)
c.5760T>C (p.Ile1920=)
c.5757T>C (p.Ile1919=)
c.5712T>C (p.Ile1904=)
n.6377T>C
Xg.77593728A>TCA517375202ATRXc.6078T>A (p.Ile2026=)
c.1176T>A (p.Ile392=)
c.5964T>A (p.Ile1988=)
c.*5706T>A (n.*5706T>A)
c.562T>A
n.3148T>A
c.6075T>A (p.Ile2025=)
c.5991T>A (p.Ile1997=)
c.5961T>A (p.Ile1987=)
c.5913T>A (p.Ile1971=)
c.5874T>A (p.Ile1958=)
c.5799T>A (p.Ile1933=)
n.6420T>A
c.5988T>A (p.Ile1996=)
c.5958T>A (p.Ile1986=)
c.5910T>A (p.Ile1970=)
c.5877T>A (p.Ile1959=)
c.5847T>A (p.Ile1949=)
c.5844T>A (p.Ile1948=)
c.5796T>A (p.Ile1932=)
c.5760T>A (p.Ile1920=)
c.5757T>A (p.Ile1919=)
c.5712T>A (p.Ile1904=)
n.6377T>A
Xg.77593729A>CCA413702805ATRXc.6077T>G (p.Ile2026Ser)
c.1175T>G (p.Ile392Ser)
c.5963T>G (p.Ile1988Ser)
c.*5705T>G (n.*5705T>G)
c.561T>G
n.3147T>G
c.6074T>G (p.Ile2025Ser)
c.5990T>G (p.Ile1997Ser)
c.5960T>G (p.Ile1987Ser)
c.5912T>G (p.Ile1971Ser)
c.5873T>G (p.Ile1958Ser)
c.5798T>G (p.Ile1933Ser)
n.6419T>G
c.5987T>G (p.Ile1996Ser)
c.5957T>G (p.Ile1986Ser)
c.5909T>G (p.Ile1970Ser)
c.5876T>G (p.Ile1959Ser)
c.5846T>G (p.Ile1949Ser)
c.5843T>G (p.Ile1948Ser)
c.5795T>G (p.Ile1932Ser)
c.5759T>G (p.Ile1920Ser)
c.5756T>G (p.Ile1919Ser)
c.5711T>G (p.Ile1904Ser)
n.6376T>G
Xg.77593729A>GCA413702803ATRXc.6077T>C (p.Ile2026Thr)
c.1175T>C (p.Ile392Thr)
c.5963T>C (p.Ile1988Thr)
c.*5705T>C (n.*5705T>C)
c.561T>C
n.3147T>C
c.6074T>C (p.Ile2025Thr)
c.5990T>C (p.Ile1997Thr)
c.5960T>C (p.Ile1987Thr)
c.5912T>C (p.Ile1971Thr)
c.5873T>C (p.Ile1958Thr)
c.5798T>C (p.Ile1933Thr)
n.6419T>C
c.5987T>C (p.Ile1996Thr)
c.5957T>C (p.Ile1986Thr)
c.5909T>C (p.Ile1970Thr)
c.5876T>C (p.Ile1959Thr)
c.5846T>C (p.Ile1949Thr)
c.5843T>C (p.Ile1948Thr)
c.5795T>C (p.Ile1932Thr)
c.5759T>C (p.Ile1920Thr)
c.5756T>C (p.Ile1919Thr)
c.5711T>C (p.Ile1904Thr)
n.6376T>C
 COSMIC COSMIC
Xg.77593729A>TCA413702804ATRXc.6077T>A (p.Ile2026Asn)
c.1175T>A (p.Ile392Asn)
c.5963T>A (p.Ile1988Asn)
c.*5705T>A (n.*5705T>A)
c.561T>A
n.3147T>A
c.6074T>A (p.Ile2025Asn)
c.5990T>A (p.Ile1997Asn)
c.5960T>A (p.Ile1987Asn)
c.5912T>A (p.Ile1971Asn)
c.5873T>A (p.Ile1958Asn)
c.5798T>A (p.Ile1933Asn)
n.6419T>A
c.5987T>A (p.Ile1996Asn)
c.5957T>A (p.Ile1986Asn)
c.5909T>A (p.Ile1970Asn)
c.5876T>A (p.Ile1959Asn)
c.5846T>A (p.Ile1949Asn)
c.5843T>A (p.Ile1948Asn)
c.5795T>A (p.Ile1932Asn)
c.5759T>A (p.Ile1920Asn)
c.5756T>A (p.Ile1919Asn)
c.5711T>A (p.Ile1904Asn)
n.6376T>A
Xg.77593730T>ACA413702806ATRXc.6076A>T (p.Ile2026Phe)
c.1174A>T (p.Ile392Phe)
c.5962A>T (p.Ile1988Phe)
c.*5704A>T (n.*5704A>T)
c.560A>T
n.3146A>T
c.6073A>T (p.Ile2025Phe)
c.5989A>T (p.Ile1997Phe)
c.5959A>T (p.Ile1987Phe)
c.5911A>T (p.Ile1971Phe)
c.5872A>T (p.Ile1958Phe)
c.5797A>T (p.Ile1933Phe)
n.6418A>T
c.5986A>T (p.Ile1996Phe)
c.5956A>T (p.Ile1986Phe)
c.5908A>T (p.Ile1970Phe)
c.5875A>T (p.Ile1959Phe)
c.5845A>T (p.Ile1949Phe)
c.5842A>T (p.Ile1948Phe)
c.5794A>T (p.Ile1932Phe)
c.5758A>T (p.Ile1920Phe)
c.5755A>T (p.Ile1919Phe)
c.5710A>T (p.Ile1904Phe)
n.6375A>T
Xg.77593730T>CCA413702808ATRXc.6076A>G (p.Ile2026Val)
c.1174A>G (p.Ile392Val)
c.5962A>G (p.Ile1988Val)
c.*5704A>G (n.*5704A>G)
c.560A>G
n.3146A>G
c.6073A>G (p.Ile2025Val)
c.5989A>G (p.Ile1997Val)
c.5959A>G (p.Ile1987Val)
c.5911A>G (p.Ile1971Val)
c.5872A>G (p.Ile1958Val)
c.5797A>G (p.Ile1933Val)
n.6418A>G
c.5986A>G (p.Ile1996Val)
c.5956A>G (p.Ile1986Val)
c.5908A>G (p.Ile1970Val)
c.5875A>G (p.Ile1959Val)
c.5845A>G (p.Ile1949Val)
c.5842A>G (p.Ile1948Val)
c.5794A>G (p.Ile1932Val)
c.5758A>G (p.Ile1920Val)
c.5755A>G (p.Ile1919Val)
c.5710A>G (p.Ile1904Val)
n.6375A>G
Xg.77593730T>GCA413702809ATRXc.6076A>C (p.Ile2026Leu)
c.1174A>C (p.Ile392Leu)
c.5962A>C (p.Ile1988Leu)
c.*5704A>C (n.*5704A>C)
c.560A>C
n.3146A>C
c.6073A>C (p.Ile2025Leu)
c.5989A>C (p.Ile1997Leu)
c.5959A>C (p.Ile1987Leu)
c.5911A>C (p.Ile1971Leu)
c.5872A>C (p.Ile1958Leu)
c.5797A>C (p.Ile1933Leu)
n.6418A>C
c.5986A>C (p.Ile1996Leu)
c.5956A>C (p.Ile1986Leu)
c.5908A>C (p.Ile1970Leu)
c.5875A>C (p.Ile1959Leu)
c.5845A>C (p.Ile1949Leu)
c.5842A>C (p.Ile1948Leu)
c.5794A>C (p.Ile1932Leu)
c.5758A>C (p.Ile1920Leu)
c.5755A>C (p.Ile1919Leu)
c.5710A>C (p.Ile1904Leu)
n.6375A>C
 COSMIC COSMIC
Xg.77593731T>ACA413702811ATRXc.6075A>T (p.Glu2025Asp)
c.1173A>T (p.Glu391Asp)
c.5961A>T (p.Glu1987Asp)
c.*5703A>T (n.*5703A>T)
c.559A>T
n.3145A>T
c.6072A>T (p.Glu2024Asp)
c.5988A>T (p.Glu1996Asp)
c.5958A>T (p.Glu1986Asp)
c.5910A>T (p.Glu1970Asp)
c.5871A>T (p.Glu1957Asp)
c.5796A>T (p.Glu1932Asp)
n.6417A>T
c.5985A>T (p.Glu1995Asp)
c.5955A>T (p.Glu1985Asp)
c.5907A>T (p.Glu1969Asp)
c.5874A>T (p.Glu1958Asp)
c.5844A>T (p.Glu1948Asp)
c.5841A>T (p.Glu1947Asp)
c.5793A>T (p.Glu1931Asp)
c.5757A>T (p.Glu1919Asp)
c.5754A>T (p.Glu1918Asp)
c.5709A>T (p.Glu1903Asp)
n.6374A>T
Xg.77593731T>CCA517375203ATRXc.6075A>G (p.Glu2025=)
c.1173A>G (p.Glu391=)
c.5961A>G (p.Glu1987=)
c.*5703A>G (n.*5703A>G)
c.559A>G
n.3145A>G
c.6072A>G (p.Glu2024=)
c.5988A>G (p.Glu1996=)
c.5958A>G (p.Glu1986=)
c.5910A>G (p.Glu1970=)
c.5871A>G (p.Glu1957=)
c.5796A>G (p.Glu1932=)
n.6417A>G
c.5985A>G (p.Glu1995=)
c.5955A>G (p.Glu1985=)
c.5907A>G (p.Glu1969=)
c.5874A>G (p.Glu1958=)
c.5844A>G (p.Glu1948=)
c.5841A>G (p.Glu1947=)
c.5793A>G (p.Glu1931=)
c.5757A>G (p.Glu1919=)
c.5754A>G (p.Glu1918=)
c.5709A>G (p.Glu1903=)
n.6374A>G
Xg.77593731T>GCA413702813ATRXc.6075A>C (p.Glu2025Asp)
c.1173A>C (p.Glu391Asp)
c.5961A>C (p.Glu1987Asp)
c.*5703A>C (n.*5703A>C)
c.559A>C
n.3145A>C
c.6072A>C (p.Glu2024Asp)
c.5988A>C (p.Glu1996Asp)
c.5958A>C (p.Glu1986Asp)
c.5910A>C (p.Glu1970Asp)
c.5871A>C (p.Glu1957Asp)
c.5796A>C (p.Glu1932Asp)
n.6417A>C
c.5985A>C (p.Glu1995Asp)
c.5955A>C (p.Glu1985Asp)
c.5907A>C (p.Glu1969Asp)
c.5874A>C (p.Glu1958Asp)
c.5844A>C (p.Glu1948Asp)
c.5841A>C (p.Glu1947Asp)
c.5793A>C (p.Glu1931Asp)
c.5757A>C (p.Glu1919Asp)
c.5754A>C (p.Glu1918Asp)
c.5709A>C (p.Glu1903Asp)
n.6374A>C
Xg.77593732T>ACA413702814ATRXc.6074A>T (p.Glu2025Val)
c.1172A>T (p.Glu391Val)
c.5960A>T (p.Glu1987Val)
c.*5702A>T (n.*5702A>T)
c.558A>T
n.3144A>T
c.6071A>T (p.Glu2024Val)
c.5987A>T (p.Glu1996Val)
c.5957A>T (p.Glu1986Val)
c.5909A>T (p.Glu1970Val)
c.5870A>T (p.Glu1957Val)
c.5795A>T (p.Glu1932Val)
n.6416A>T
c.5984A>T (p.Glu1995Val)
c.5954A>T (p.Glu1985Val)
c.5906A>T (p.Glu1969Val)
c.5873A>T (p.Glu1958Val)
c.5843A>T (p.Glu1948Val)
c.5840A>T (p.Glu1947Val)
c.5792A>T (p.Glu1931Val)
c.5756A>T (p.Glu1919Val)
c.5753A>T (p.Glu1918Val)
c.5708A>T (p.Glu1903Val)
n.6373A>T
Xg.77593732T>CCA413702816ATRXc.6074A>G (p.Glu2025Gly)
c.1172A>G (p.Glu391Gly)
c.5960A>G (p.Glu1987Gly)
c.*5702A>G (n.*5702A>G)
c.558A>G
n.3144A>G
c.6071A>G (p.Glu2024Gly)
c.5987A>G (p.Glu1996Gly)
c.5957A>G (p.Glu1986Gly)
c.5909A>G (p.Glu1970Gly)
c.5870A>G (p.Glu1957Gly)
c.5795A>G (p.Glu1932Gly)
n.6416A>G
c.5984A>G (p.Glu1995Gly)
c.5954A>G (p.Glu1985Gly)
c.5906A>G (p.Glu1969Gly)
c.5873A>G (p.Glu1958Gly)
c.5843A>G (p.Glu1948Gly)
c.5840A>G (p.Glu1947Gly)
c.5792A>G (p.Glu1931Gly)
c.5756A>G (p.Glu1919Gly)
c.5753A>G (p.Glu1918Gly)
c.5708A>G (p.Glu1903Gly)
n.6373A>G
Xg.77593732T>GCA413702815ATRXc.6074A>C (p.Glu2025Ala)
c.1172A>C (p.Glu391Ala)
c.5960A>C (p.Glu1987Ala)
c.*5702A>C (n.*5702A>C)
c.558A>C
n.3144A>C
c.6071A>C (p.Glu2024Ala)
c.5987A>C (p.Glu1996Ala)
c.5957A>C (p.Glu1986Ala)
c.5909A>C (p.Glu1970Ala)
c.5870A>C (p.Glu1957Ala)
c.5795A>C (p.Glu1932Ala)
n.6416A>C
c.5984A>C (p.Glu1995Ala)
c.5954A>C (p.Glu1985Ala)
c.5906A>C (p.Glu1969Ala)
c.5873A>C (p.Glu1958Ala)
c.5843A>C (p.Glu1948Ala)
c.5840A>C (p.Glu1947Ala)
c.5792A>C (p.Glu1931Ala)
c.5756A>C (p.Glu1919Ala)
c.5753A>C (p.Glu1918Ala)
c.5708A>C (p.Glu1903Ala)
n.6373A>C
Xg.77593733C>ACA413702818ATRXc.6073G>T (p.Glu2025Ter)
c.1171G>T (p.Glu391Ter)
c.5959G>T (p.Glu1987Ter)
c.*5701G>T (n.*5701G>T)
c.557G>T
n.3143G>T
c.6070G>T (p.Glu2024Ter)
c.5986G>T (p.Glu1996Ter)
c.5956G>T (p.Glu1986Ter)
c.5908G>T (p.Glu1970Ter)
c.5869G>T (p.Glu1957Ter)
c.5794G>T (p.Glu1932Ter)
n.6415G>T
c.5983G>T (p.Glu1995Ter)
c.5953G>T (p.Glu1985Ter)
c.5905G>T (p.Glu1969Ter)
c.5872G>T (p.Glu1958Ter)
c.5842G>T (p.Glu1948Ter)
c.5839G>T (p.Glu1947Ter)
c.5791G>T (p.Glu1931Ter)
c.5755G>T (p.Glu1919Ter)
c.5752G>T (p.Glu1918Ter)
c.5707G>T (p.Glu1903Ter)
n.6372G>T
Xg.77593733C>GCA413702821ATRXc.6073G>C (p.Glu2025Gln)
c.1171G>C (p.Glu391Gln)
c.5959G>C (p.Glu1987Gln)
c.*5701G>C (n.*5701G>C)
c.557G>C
n.3143G>C
c.6070G>C (p.Glu2024Gln)
c.5986G>C (p.Glu1996Gln)
c.5956G>C (p.Glu1986Gln)
c.5908G>C (p.Glu1970Gln)
c.5869G>C (p.Glu1957Gln)
c.5794G>C (p.Glu1932Gln)
n.6415G>C
c.5983G>C (p.Glu1995Gln)
c.5953G>C (p.Glu1985Gln)
c.5905G>C (p.Glu1969Gln)
c.5872G>C (p.Glu1958Gln)
c.5842G>C (p.Glu1948Gln)
c.5839G>C (p.Glu1947Gln)
c.5791G>C (p.Glu1931Gln)
c.5755G>C (p.Glu1919Gln)
c.5752G>C (p.Glu1918Gln)
c.5707G>C (p.Glu1903Gln)
n.6372G>C
Xg.77593733C>TCA413702822ATRXc.6073G>A (p.Glu2025Lys)
c.1171G>A (p.Glu391Lys)
c.5959G>A (p.Glu1987Lys)
c.*5701G>A (n.*5701G>A)
c.557G>A
n.3143G>A
c.6070G>A (p.Glu2024Lys)
c.5986G>A (p.Glu1996Lys)
c.5956G>A (p.Glu1986Lys)
c.5908G>A (p.Glu1970Lys)
c.5869G>A (p.Glu1957Lys)
c.5794G>A (p.Glu1932Lys)
n.6415G>A
c.5983G>A (p.Glu1995Lys)
c.5953G>A (p.Glu1985Lys)
c.5905G>A (p.Glu1969Lys)
c.5872G>A (p.Glu1958Lys)
c.5842G>A (p.Glu1948Lys)
c.5839G>A (p.Glu1947Lys)
c.5791G>A (p.Glu1931Lys)
c.5755G>A (p.Glu1919Lys)
c.5752G>A (p.Glu1918Lys)
c.5707G>A (p.Glu1903Lys)
n.6372G>A
Xg.77593734A>CCA413702824ATRXc.6072T>G (p.Phe2024Leu)
c.1170T>G (p.Phe390Leu)
c.5958T>G (p.Phe1986Leu)
c.*5700T>G (n.*5700T>G)
c.556T>G
n.3142T>G
c.6069T>G (p.Phe2023Leu)
c.5985T>G (p.Phe1995Leu)
c.5955T>G (p.Phe1985Leu)
c.5907T>G (p.Phe1969Leu)
c.5868T>G (p.Phe1956Leu)
c.5793T>G (p.Phe1931Leu)
n.6414T>G
c.5982T>G (p.Phe1994Leu)
c.5952T>G (p.Phe1984Leu)
c.5904T>G (p.Phe1968Leu)
c.5871T>G (p.Phe1957Leu)
c.5841T>G (p.Phe1947Leu)
c.5838T>G (p.Phe1946Leu)
c.5790T>G (p.Phe1930Leu)
c.5754T>G (p.Phe1918Leu)
c.5751T>G (p.Phe1917Leu)
c.5706T>G (p.Phe1902Leu)
n.6371T>G
Xg.77593734A>GCA517375204ATRXc.6072T>C (p.Phe2024=)
c.1170T>C (p.Phe390=)
c.5958T>C (p.Phe1986=)
c.*5700T>C (n.*5700T>C)
c.556T>C
n.3142T>C
c.6069T>C (p.Phe2023=)
c.5985T>C (p.Phe1995=)
c.5955T>C (p.Phe1985=)
c.5907T>C (p.Phe1969=)
c.5868T>C (p.Phe1956=)
c.5793T>C (p.Phe1931=)
n.6414T>C
c.5982T>C (p.Phe1994=)
c.5952T>C (p.Phe1984=)
c.5904T>C (p.Phe1968=)
c.5871T>C (p.Phe1957=)
c.5841T>C (p.Phe1947=)
c.5838T>C (p.Phe1946=)
c.5790T>C (p.Phe1930=)
c.5754T>C (p.Phe1918=)
c.5751T>C (p.Phe1917=)
c.5706T>C (p.Phe1902=)
n.6371T>C
Xg.77593734A>TCA413702826ATRXc.6072T>A (p.Phe2024Leu)
c.1170T>A (p.Phe390Leu)
c.5958T>A (p.Phe1986Leu)
c.*5700T>A (n.*5700T>A)
c.556T>A
n.3142T>A
c.6069T>A (p.Phe2023Leu)
c.5985T>A (p.Phe1995Leu)
c.5955T>A (p.Phe1985Leu)
c.5907T>A (p.Phe1969Leu)
c.5868T>A (p.Phe1956Leu)
c.5793T>A (p.Phe1931Leu)
n.6414T>A
c.5982T>A (p.Phe1994Leu)
c.5952T>A (p.Phe1984Leu)
c.5904T>A (p.Phe1968Leu)
c.5871T>A (p.Phe1957Leu)
c.5841T>A (p.Phe1947Leu)
c.5838T>A (p.Phe1946Leu)
c.5790T>A (p.Phe1930Leu)
c.5754T>A (p.Phe1918Leu)
c.5751T>A (p.Phe1917Leu)
c.5706T>A (p.Phe1902Leu)
n.6371T>A
Xg.77593735A>CCA413702828ATRXc.6071T>G (p.Phe2024Cys)
c.1169T>G (p.Phe390Cys)
c.5957T>G (p.Phe1986Cys)
c.*5699T>G (n.*5699T>G)
c.555T>G
n.3141T>G
c.6068T>G (p.Phe2023Cys)
c.5984T>G (p.Phe1995Cys)
c.5954T>G (p.Phe1985Cys)
c.5906T>G (p.Phe1969Cys)
c.5867T>G (p.Phe1956Cys)
c.5792T>G (p.Phe1931Cys)
n.6413T>G
c.5981T>G (p.Phe1994Cys)
c.5951T>G (p.Phe1984Cys)
c.5903T>G (p.Phe1968Cys)
c.5870T>G (p.Phe1957Cys)
c.5840T>G (p.Phe1947Cys)
c.5837T>G (p.Phe1946Cys)
c.5789T>G (p.Phe1930Cys)
c.5753T>G (p.Phe1918Cys)
c.5750T>G (p.Phe1917Cys)
c.5705T>G (p.Phe1902Cys)
n.6370T>G
Xg.77593735A>GCA413702830ATRXc.6071T>C (p.Phe2024Ser)
c.1169T>C (p.Phe390Ser)
c.5957T>C (p.Phe1986Ser)
c.*5699T>C (n.*5699T>C)
c.555T>C
n.3141T>C
c.6068T>C (p.Phe2023Ser)
c.5984T>C (p.Phe1995Ser)
c.5954T>C (p.Phe1985Ser)
c.5906T>C (p.Phe1969Ser)
c.5867T>C (p.Phe1956Ser)
c.5792T>C (p.Phe1931Ser)
n.6413T>C
c.5981T>C (p.Phe1994Ser)
c.5951T>C (p.Phe1984Ser)
c.5903T>C (p.Phe1968Ser)
c.5870T>C (p.Phe1957Ser)
c.5840T>C (p.Phe1947Ser)
c.5837T>C (p.Phe1946Ser)
c.5789T>C (p.Phe1930Ser)
c.5753T>C (p.Phe1918Ser)
c.5750T>C (p.Phe1917Ser)
c.5705T>C (p.Phe1902Ser)
n.6370T>C
Xg.77593735A>TCA413702831ATRXc.6071T>A (p.Phe2024Tyr)
c.1169T>A (p.Phe390Tyr)
c.5957T>A (p.Phe1986Tyr)
c.*5699T>A (n.*5699T>A)
c.555T>A
n.3141T>A
c.6068T>A (p.Phe2023Tyr)
c.5984T>A (p.Phe1995Tyr)
c.5954T>A (p.Phe1985Tyr)
c.5906T>A (p.Phe1969Tyr)
c.5867T>A (p.Phe1956Tyr)
c.5792T>A (p.Phe1931Tyr)
n.6413T>A
c.5981T>A (p.Phe1994Tyr)
c.5951T>A (p.Phe1984Tyr)
c.5903T>A (p.Phe1968Tyr)
c.5870T>A (p.Phe1957Tyr)
c.5840T>A (p.Phe1947Tyr)
c.5837T>A (p.Phe1946Tyr)
c.5789T>A (p.Phe1930Tyr)
c.5753T>A (p.Phe1918Tyr)
c.5750T>A (p.Phe1917Tyr)
c.5705T>A (p.Phe1902Tyr)
n.6370T>A
Xg.77593738_77593742delCA645610434ATRXc.6067_6071del (p.Leu2023Ter)
c.1165_1169del (p.Leu389Ter)
c.5953_5957del (p.Leu1985Ter)
c.*5695_*5699del (n.*5695_*5699del)
c.551_555del
n.3137_3141del
c.6064_6068del (p.Leu2022Ter)
c.5980_5984del (p.Leu1994Ter)
c.5950_5954del (p.Leu1984Ter)
c.5902_5906del (p.Leu1968Ter)
c.5863_5867del (p.Leu1955Ter)
c.5788_5792del (p.Leu1930Ter)
n.6409_6413del
c.5977_5981del (p.Leu1993Ter)
c.5947_5951del (p.Leu1983Ter)
c.5899_5903del (p.Leu1967Ter)
c.5866_5870del (p.Leu1956Ter)
c.5836_5840del (p.Leu1946Ter)
c.5833_5837del (p.Leu1945Ter)
c.5785_5789del (p.Leu1929Ter)
c.5749_5753del (p.Leu1917Ter)
c.5746_5750del (p.Leu1916Ter)
c.5701_5705del (p.Leu1901Ter)
n.6366_6370del
 COSMIC COSMIC
Xg.77593736A>CCA413702833ATRXc.6070T>G (p.Phe2024Val)
c.1168T>G (p.Phe390Val)
c.5956T>G (p.Phe1986Val)
c.*5698T>G (n.*5698T>G)
c.554T>G
n.3140T>G
c.6067T>G (p.Phe2023Val)
c.5983T>G (p.Phe1995Val)
c.5953T>G (p.Phe1985Val)
c.5905T>G (p.Phe1969Val)
c.5866T>G (p.Phe1956Val)
c.5791T>G (p.Phe1931Val)
n.6412T>G
c.5980T>G (p.Phe1994Val)
c.5950T>G (p.Phe1984Val)
c.5902T>G (p.Phe1968Val)
c.5869T>G (p.Phe1957Val)
c.5839T>G (p.Phe1947Val)
c.5836T>G (p.Phe1946Val)
c.5788T>G (p.Phe1930Val)
c.5752T>G (p.Phe1918Val)
c.5749T>G (p.Phe1917Val)
c.5704T>G (p.Phe1902Val)
n.6369T>G
Xg.77593736A>GCA413702834ATRXc.6070T>C (p.Phe2024Leu)
c.1168T>C (p.Phe390Leu)
c.5956T>C (p.Phe1986Leu)
c.*5698T>C (n.*5698T>C)
c.554T>C
n.3140T>C
c.6067T>C (p.Phe2023Leu)
c.5983T>C (p.Phe1995Leu)
c.5953T>C (p.Phe1985Leu)
c.5905T>C (p.Phe1969Leu)
c.5866T>C (p.Phe1956Leu)
c.5791T>C (p.Phe1931Leu)
n.6412T>C
c.5980T>C (p.Phe1994Leu)
c.5950T>C (p.Phe1984Leu)
c.5902T>C (p.Phe1968Leu)
c.5869T>C (p.Phe1957Leu)
c.5839T>C (p.Phe1947Leu)
c.5836T>C (p.Phe1946Leu)
c.5788T>C (p.Phe1930Leu)
c.5752T>C (p.Phe1918Leu)
c.5749T>C (p.Phe1917Leu)
c.5704T>C (p.Phe1902Leu)
n.6369T>C
Xg.77593736A>TCA413702836ATRXc.6070T>A (p.Phe2024Ile)
c.1168T>A (p.Phe390Ile)
c.5956T>A (p.Phe1986Ile)
c.*5698T>A (n.*5698T>A)
c.554T>A
n.3140T>A
c.6067T>A (p.Phe2023Ile)
c.5983T>A (p.Phe1995Ile)
c.5953T>A (p.Phe1985Ile)
c.5905T>A (p.Phe1969Ile)
c.5866T>A (p.Phe1956Ile)
c.5791T>A (p.Phe1931Ile)
n.6412T>A
c.5980T>A (p.Phe1994Ile)
c.5950T>A (p.Phe1984Ile)
c.5902T>A (p.Phe1968Ile)
c.5869T>A (p.Phe1957Ile)
c.5839T>A (p.Phe1947Ile)
c.5836T>A (p.Phe1946Ile)
c.5788T>A (p.Phe1930Ile)
c.5752T>A (p.Phe1918Ile)
c.5749T>A (p.Phe1917Ile)
c.5704T>A (p.Phe1902Ile)
n.6369T>A
Xg.77593737G>ACA517375205ATRXc.6069C>T (p.Leu2023=)
c.1167C>T (p.Leu389=)
c.5955C>T (p.Leu1985=)
c.*5697C>T (n.*5697C>T)
c.553C>T
n.3139C>T
c.6066C>T (p.Leu2022=)
c.5982C>T (p.Leu1994=)
c.5952C>T (p.Leu1984=)
c.5904C>T (p.Leu1968=)
c.5865C>T (p.Leu1955=)
c.5790C>T (p.Leu1930=)
n.6411C>T
c.5979C>T (p.Leu1993=)
c.5949C>T (p.Leu1983=)
c.5901C>T (p.Leu1967=)
c.5868C>T (p.Leu1956=)
c.5838C>T (p.Leu1946=)
c.5835C>T (p.Leu1945=)
c.5787C>T (p.Leu1929=)
c.5751C>T (p.Leu1917=)
c.5748C>T (p.Leu1916=)
c.5703C>T (p.Leu1901=)
n.6368C>T
Xg.77593737G>CCA517375206ATRXc.6069C>G (p.Leu2023=)
c.1167C>G (p.Leu389=)
c.5955C>G (p.Leu1985=)
c.*5697C>G (n.*5697C>G)
c.553C>G
n.3139C>G
c.6066C>G (p.Leu2022=)
c.5982C>G (p.Leu1994=)
c.5952C>G (p.Leu1984=)
c.5904C>G (p.Leu1968=)
c.5865C>G (p.Leu1955=)
c.5790C>G (p.Leu1930=)
n.6411C>G
c.5979C>G (p.Leu1993=)
c.5949C>G (p.Leu1983=)
c.5901C>G (p.Leu1967=)
c.5868C>G (p.Leu1956=)
c.5838C>G (p.Leu1946=)
c.5835C>G (p.Leu1945=)
c.5787C>G (p.Leu1929=)
c.5751C>G (p.Leu1917=)
c.5748C>G (p.Leu1916=)
c.5703C>G (p.Leu1901=)
n.6368C>G
Xg.77593737G>TCA517375207ATRXc.6069C>A (p.Leu2023=)
c.1167C>A (p.Leu389=)
c.5955C>A (p.Leu1985=)
c.*5697C>A (n.*5697C>A)
c.553C>A
n.3139C>A
c.6066C>A (p.Leu2022=)
c.5982C>A (p.Leu1994=)
c.5952C>A (p.Leu1984=)
c.5904C>A (p.Leu1968=)
c.5865C>A (p.Leu1955=)
c.5790C>A (p.Leu1930=)
n.6411C>A
c.5979C>A (p.Leu1993=)
c.5949C>A (p.Leu1983=)
c.5901C>A (p.Leu1967=)
c.5868C>A (p.Leu1956=)
c.5838C>A (p.Leu1946=)
c.5835C>A (p.Leu1945=)
c.5787C>A (p.Leu1929=)
c.5751C>A (p.Leu1917=)
c.5748C>A (p.Leu1916=)
c.5703C>A (p.Leu1901=)
n.6368C>A
Xg.77593738A=CA2438957776ATRXc.6068T= (p.Leu2023=)
c.1166T= (p.Leu389=)
c.5954T= (p.Leu1985=)
c.*5696T= (n.*5696T=)
c.552T=
n.3138T=
c.6065T= (p.Leu2022=)
c.5981T= (p.Leu1994=)
c.5951T= (p.Leu1984=)
c.5903T= (p.Leu1968=)
c.5864T= (p.Leu1955=)
c.5789T= (p.Leu1930=)
n.6410T=
c.5978T= (p.Leu1993=)
c.5948T= (p.Leu1983=)
c.5900T= (p.Leu1967=)
c.5867T= (p.Leu1956=)
c.5837T= (p.Leu1946=)
c.5834T= (p.Leu1945=)
c.5786T= (p.Leu1929=)
c.5750T= (p.Leu1917=)
c.5747T= (p.Leu1916=)
c.5702T= (p.Leu1901=)
n.6367T=
Xg.77593738A>CCA413702837ATRXc.6068T>G (p.Leu2023Arg)
c.1166T>G (p.Leu389Arg)
c.5954T>G (p.Leu1985Arg)
c.*5696T>G (n.*5696T>G)
c.552T>G
n.3138T>G
c.6065T>G (p.Leu2022Arg)
c.5981T>G (p.Leu1994Arg)
c.5951T>G (p.Leu1984Arg)
c.5903T>G (p.Leu1968Arg)
c.5864T>G (p.Leu1955Arg)
c.5789T>G (p.Leu1930Arg)
n.6410T>G
c.5978T>G (p.Leu1993Arg)
c.5948T>G (p.Leu1983Arg)
c.5900T>G (p.Leu1967Arg)
c.5867T>G (p.Leu1956Arg)
c.5837T>G (p.Leu1946Arg)
c.5834T>G (p.Leu1945Arg)
c.5786T>G (p.Leu1929Arg)
c.5750T>G (p.Leu1917Arg)
c.5747T>G (p.Leu1916Arg)
c.5702T>G (p.Leu1901Arg)
n.6367T>G
Xg.77593738A>GCA10457566ATRXc.6068T>C (p.Leu2023Pro)
c.1166T>C (p.Leu389Pro)
c.5954T>C (p.Leu1985Pro)
c.*5696T>C (n.*5696T>C)
c.552T>C
n.3138T>C
c.6065T>C (p.Leu2022Pro)
c.5981T>C (p.Leu1994Pro)
c.5951T>C (p.Leu1984Pro)
c.5903T>C (p.Leu1968Pro)
c.5864T>C (p.Leu1955Pro)
c.5789T>C (p.Leu1930Pro)
n.6410T>C
c.5978T>C (p.Leu1993Pro)
c.5948T>C (p.Leu1983Pro)
c.5900T>C (p.Leu1967Pro)
c.5867T>C (p.Leu1956Pro)
c.5837T>C (p.Leu1946Pro)
c.5834T>C (p.Leu1945Pro)
c.5786T>C (p.Leu1929Pro)
c.5750T>C (p.Leu1917Pro)
c.5747T>C (p.Leu1916Pro)
c.5702T>C (p.Leu1901Pro)
n.6367T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77593738A>TCA413702838ATRXc.6068T>A (p.Leu2023His)
c.1166T>A (p.Leu389His)
c.5954T>A (p.Leu1985His)
c.*5696T>A (n.*5696T>A)
c.552T>A
n.3138T>A
c.6065T>A (p.Leu2022His)
c.5981T>A (p.Leu1994His)
c.5951T>A (p.Leu1984His)
c.5903T>A (p.Leu1968His)
c.5864T>A (p.Leu1955His)
c.5789T>A (p.Leu1930His)
n.6410T>A
c.5978T>A (p.Leu1993His)
c.5948T>A (p.Leu1983His)
c.5900T>A (p.Leu1967His)
c.5867T>A (p.Leu1956His)
c.5837T>A (p.Leu1946His)
c.5834T>A (p.Leu1945His)
c.5786T>A (p.Leu1929His)
c.5750T>A (p.Leu1917His)
c.5747T>A (p.Leu1916His)
c.5702T>A (p.Leu1901His)
n.6367T>A
Xg.77593739G>ACA413702841ATRXc.6067C>T (p.Leu2023Phe)
c.1165C>T (p.Leu389Phe)
c.5953C>T (p.Leu1985Phe)
c.*5695C>T (n.*5695C>T)
c.551C>T
n.3137C>T
c.6064C>T (p.Leu2022Phe)
c.5980C>T (p.Leu1994Phe)
c.5950C>T (p.Leu1984Phe)
c.5902C>T (p.Leu1968Phe)
c.5863C>T (p.Leu1955Phe)
c.5788C>T (p.Leu1930Phe)
n.6409C>T
c.5977C>T (p.Leu1993Phe)
c.5947C>T (p.Leu1983Phe)
c.5899C>T (p.Leu1967Phe)
c.5866C>T (p.Leu1956Phe)
c.5836C>T (p.Leu1946Phe)
c.5833C>T (p.Leu1945Phe)
c.5785C>T (p.Leu1929Phe)
c.5749C>T (p.Leu1917Phe)
c.5746C>T (p.Leu1916Phe)
c.5701C>T (p.Leu1901Phe)
n.6366C>T
Xg.77593739G>CCA413702842ATRXc.6067C>G (p.Leu2023Val)
c.1165C>G (p.Leu389Val)
c.5953C>G (p.Leu1985Val)
c.*5695C>G (n.*5695C>G)
c.551C>G
n.3137C>G
c.6064C>G (p.Leu2022Val)
c.5980C>G (p.Leu1994Val)
c.5950C>G (p.Leu1984Val)
c.5902C>G (p.Leu1968Val)
c.5863C>G (p.Leu1955Val)
c.5788C>G (p.Leu1930Val)
n.6409C>G
c.5977C>G (p.Leu1993Val)
c.5947C>G (p.Leu1983Val)
c.5899C>G (p.Leu1967Val)
c.5866C>G (p.Leu1956Val)
c.5836C>G (p.Leu1946Val)
c.5833C>G (p.Leu1945Val)
c.5785C>G (p.Leu1929Val)
c.5749C>G (p.Leu1917Val)
c.5746C>G (p.Leu1916Val)
c.5701C>G (p.Leu1901Val)
n.6366C>G
Xg.77593739G>TCA413702843ATRXc.6067C>A (p.Leu2023Ile)
c.1165C>A (p.Leu389Ile)
c.5953C>A (p.Leu1985Ile)
c.*5695C>A (n.*5695C>A)
c.551C>A
n.3137C>A
c.6064C>A (p.Leu2022Ile)
c.5980C>A (p.Leu1994Ile)
c.5950C>A (p.Leu1984Ile)
c.5902C>A (p.Leu1968Ile)
c.5863C>A (p.Leu1955Ile)
c.5788C>A (p.Leu1930Ile)
n.6409C>A
c.5977C>A (p.Leu1993Ile)
c.5947C>A (p.Leu1983Ile)
c.5899C>A (p.Leu1967Ile)
c.5866C>A (p.Leu1956Ile)
c.5836C>A (p.Leu1946Ile)
c.5833C>A (p.Leu1945Ile)
c.5785C>A (p.Leu1929Ile)
c.5749C>A (p.Leu1917Ile)
c.5746C>A (p.Leu1916Ile)
c.5701C>A (p.Leu1901Ile)
n.6366C>A
 gnomAD v4
Xg.77593740A>CCA517375208ATRXc.6066T>G (p.Leu2022=)
c.1164T>G (p.Leu388=)
c.5952T>G (p.Leu1984=)
c.*5694T>G (n.*5694T>G)
c.550T>G
n.3136T>G
c.6063T>G (p.Leu2021=)
c.5979T>G (p.Leu1993=)
c.5949T>G (p.Leu1983=)
c.5901T>G (p.Leu1967=)
c.5862T>G (p.Leu1954=)
c.5787T>G (p.Leu1929=)
n.6408T>G
c.5976T>G (p.Leu1992=)
c.5946T>G (p.Leu1982=)
c.5898T>G (p.Leu1966=)
c.5865T>G (p.Leu1955=)
c.5835T>G (p.Leu1945=)
c.5832T>G (p.Leu1944=)
c.5784T>G (p.Leu1928=)
c.5748T>G (p.Leu1916=)
c.5745T>G (p.Leu1915=)
c.5700T>G (p.Leu1900=)
n.6365T>G
Xg.77593740A>GCA517375209ATRXc.6066T>C (p.Leu2022=)
c.1164T>C (p.Leu388=)
c.5952T>C (p.Leu1984=)
c.*5694T>C (n.*5694T>C)
c.550T>C
n.3136T>C
c.6063T>C (p.Leu2021=)
c.5979T>C (p.Leu1993=)
c.5949T>C (p.Leu1983=)
c.5901T>C (p.Leu1967=)
c.5862T>C (p.Leu1954=)
c.5787T>C (p.Leu1929=)
n.6408T>C
c.5976T>C (p.Leu1992=)
c.5946T>C (p.Leu1982=)
c.5898T>C (p.Leu1966=)
c.5865T>C (p.Leu1955=)
c.5835T>C (p.Leu1945=)
c.5832T>C (p.Leu1944=)
c.5784T>C (p.Leu1928=)
c.5748T>C (p.Leu1916=)
c.5745T>C (p.Leu1915=)
c.5700T>C (p.Leu1900=)
n.6365T>C
Xg.77593740A>TCA517375210ATRXc.6066T>A (p.Leu2022=)
c.1164T>A (p.Leu388=)
c.5952T>A (p.Leu1984=)
c.*5694T>A (n.*5694T>A)
c.550T>A
n.3136T>A
c.6063T>A (p.Leu2021=)
c.5979T>A (p.Leu1993=)
c.5949T>A (p.Leu1983=)
c.5901T>A (p.Leu1967=)
c.5862T>A (p.Leu1954=)
c.5787T>A (p.Leu1929=)
n.6408T>A
c.5976T>A (p.Leu1992=)
c.5946T>A (p.Leu1982=)
c.5898T>A (p.Leu1966=)
c.5865T>A (p.Leu1955=)
c.5835T>A (p.Leu1945=)
c.5832T>A (p.Leu1944=)
c.5784T>A (p.Leu1928=)
c.5748T>A (p.Leu1916=)
c.5745T>A (p.Leu1915=)
c.5700T>A (p.Leu1900=)
n.6365T>A
Xg.77593741A>CCA413702845ATRXc.6065T>G (p.Leu2022Arg)
c.1163T>G (p.Leu388Arg)
c.5951T>G (p.Leu1984Arg)
c.*5693T>G (n.*5693T>G)
c.549T>G
n.3135T>G
c.6062T>G (p.Leu2021Arg)
c.5978T>G (p.Leu1993Arg)
c.5948T>G (p.Leu1983Arg)
c.5900T>G (p.Leu1967Arg)
c.5861T>G (p.Leu1954Arg)
c.5786T>G (p.Leu1929Arg)
n.6407T>G
c.5975T>G (p.Leu1992Arg)
c.5945T>G (p.Leu1982Arg)
c.5897T>G (p.Leu1966Arg)
c.5864T>G (p.Leu1955Arg)
c.5834T>G (p.Leu1945Arg)
c.5831T>G (p.Leu1944Arg)
c.5783T>G (p.Leu1928Arg)
c.5747T>G (p.Leu1916Arg)
c.5744T>G (p.Leu1915Arg)
c.5699T>G (p.Leu1900Arg)
n.6364T>G
 COSMIC
Xg.77593741A>GCA413702847ATRXc.6065T>C (p.Leu2022Pro)
c.1163T>C (p.Leu388Pro)
c.5951T>C (p.Leu1984Pro)
c.*5693T>C (n.*5693T>C)
c.549T>C
n.3135T>C
c.6062T>C (p.Leu2021Pro)
c.5978T>C (p.Leu1993Pro)
c.5948T>C (p.Leu1983Pro)
c.5900T>C (p.Leu1967Pro)
c.5861T>C (p.Leu1954Pro)
c.5786T>C (p.Leu1929Pro)
n.6407T>C
c.5975T>C (p.Leu1992Pro)
c.5945T>C (p.Leu1982Pro)
c.5897T>C (p.Leu1966Pro)
c.5864T>C (p.Leu1955Pro)
c.5834T>C (p.Leu1945Pro)
c.5831T>C (p.Leu1944Pro)
c.5783T>C (p.Leu1928Pro)
c.5747T>C (p.Leu1916Pro)
c.5744T>C (p.Leu1915Pro)
c.5699T>C (p.Leu1900Pro)
n.6364T>C
Xg.77593741A>TCA413702848ATRXc.6065T>A (p.Leu2022His)
c.1163T>A (p.Leu388His)
c.5951T>A (p.Leu1984His)
c.*5693T>A (n.*5693T>A)
c.549T>A
n.3135T>A
c.6062T>A (p.Leu2021His)
c.5978T>A (p.Leu1993His)
c.5948T>A (p.Leu1983His)
c.5900T>A (p.Leu1967His)
c.5861T>A (p.Leu1954His)
c.5786T>A (p.Leu1929His)
n.6407T>A
c.5975T>A (p.Leu1992His)
c.5945T>A (p.Leu1982His)
c.5897T>A (p.Leu1966His)
c.5864T>A (p.Leu1955His)
c.5834T>A (p.Leu1945His)
c.5831T>A (p.Leu1944His)
c.5783T>A (p.Leu1928His)
c.5747T>A (p.Leu1916His)
c.5744T>A (p.Leu1915His)
c.5699T>A (p.Leu1900His)
n.6364T>A
Xg.77593742G>ACA413702850ATRXc.6064C>T (p.Leu2022Phe)
c.1162C>T (p.Leu388Phe)
c.5950C>T (p.Leu1984Phe)
c.*5692C>T (n.*5692C>T)
c.548C>T
n.3134C>T
c.6061C>T (p.Leu2021Phe)
c.5977C>T (p.Leu1993Phe)
c.5947C>T (p.Leu1983Phe)
c.5899C>T (p.Leu1967Phe)
c.5860C>T (p.Leu1954Phe)
c.5785C>T (p.Leu1929Phe)
n.6406C>T
c.5974C>T (p.Leu1992Phe)
c.5944C>T (p.Leu1982Phe)
c.5896C>T (p.Leu1966Phe)
c.5863C>T (p.Leu1955Phe)
c.5833C>T (p.Leu1945Phe)
c.5830C>T (p.Leu1944Phe)
c.5782C>T (p.Leu1928Phe)
c.5746C>T (p.Leu1916Phe)
c.5743C>T (p.Leu1915Phe)
c.5698C>T (p.Leu1900Phe)
n.6363C>T
Xg.77593742G>CCA413702852ATRXc.6064C>G (p.Leu2022Val)
c.1162C>G (p.Leu388Val)
c.5950C>G (p.Leu1984Val)
c.*5692C>G (n.*5692C>G)
c.548C>G
n.3134C>G
c.6061C>G (p.Leu2021Val)
c.5977C>G (p.Leu1993Val)
c.5947C>G (p.Leu1983Val)
c.5899C>G (p.Leu1967Val)
c.5860C>G (p.Leu1954Val)
c.5785C>G (p.Leu1929Val)
n.6406C>G
c.5974C>G (p.Leu1992Val)
c.5944C>G (p.Leu1982Val)
c.5896C>G (p.Leu1966Val)
c.5863C>G (p.Leu1955Val)
c.5833C>G (p.Leu1945Val)
c.5830C>G (p.Leu1944Val)
c.5782C>G (p.Leu1928Val)
c.5746C>G (p.Leu1916Val)
c.5743C>G (p.Leu1915Val)
c.5698C>G (p.Leu1900Val)
n.6363C>G
Xg.77593742G>TCA413702856ATRXc.6064C>A (p.Leu2022Ile)
c.1162C>A (p.Leu388Ile)
c.5950C>A (p.Leu1984Ile)
c.*5692C>A (n.*5692C>A)
c.548C>A
n.3134C>A
c.6061C>A (p.Leu2021Ile)
c.5977C>A (p.Leu1993Ile)
c.5947C>A (p.Leu1983Ile)
c.5899C>A (p.Leu1967Ile)
c.5860C>A (p.Leu1954Ile)
c.5785C>A (p.Leu1929Ile)
n.6406C>A
c.5974C>A (p.Leu1992Ile)
c.5944C>A (p.Leu1982Ile)
c.5896C>A (p.Leu1966Ile)
c.5863C>A (p.Leu1955Ile)
c.5833C>A (p.Leu1945Ile)
c.5830C>A (p.Leu1944Ile)
c.5782C>A (p.Leu1928Ile)
c.5746C>A (p.Leu1916Ile)
c.5743C>A (p.Leu1915Ile)
c.5698C>A (p.Leu1900Ile)
n.6363C>A
 COSMIC
Xg.77593743T>ACA517375211ATRXc.6063A>T (p.Val2021=)
c.1161A>T (p.Val387=)
c.5949A>T (p.Val1983=)
c.*5691A>T (n.*5691A>T)
c.547A>T
n.3133A>T
c.6060A>T (p.Val2020=)
c.5976A>T (p.Val1992=)
c.5946A>T (p.Val1982=)
c.5898A>T (p.Val1966=)
c.5859A>T (p.Val1953=)
c.5784A>T (p.Val1928=)
n.6405A>T
c.5973A>T (p.Val1991=)
c.5943A>T (p.Val1981=)
c.5895A>T (p.Val1965=)
c.5862A>T (p.Val1954=)
c.5832A>T (p.Val1944=)
c.5829A>T (p.Val1943=)
c.5781A>T (p.Val1927=)
c.5745A>T (p.Val1915=)
c.5742A>T (p.Val1914=)
c.5697A>T (p.Val1899=)
n.6362A>T
 dbSNP
Xg.77593743T>CCA517375212ATRXc.6063A>G (p.Val2021=)
c.1161A>G (p.Val387=)
c.5949A>G (p.Val1983=)
c.*5691A>G (n.*5691A>G)
c.547A>G
n.3133A>G
c.6060A>G (p.Val2020=)
c.5976A>G (p.Val1992=)
c.5946A>G (p.Val1982=)
c.5898A>G (p.Val1966=)
c.5859A>G (p.Val1953=)
c.5784A>G (p.Val1928=)
n.6405A>G
c.5973A>G (p.Val1991=)
c.5943A>G (p.Val1981=)
c.5895A>G (p.Val1965=)
c.5862A>G (p.Val1954=)
c.5832A>G (p.Val1944=)
c.5829A>G (p.Val1943=)
c.5781A>G (p.Val1927=)
c.5745A>G (p.Val1915=)
c.5742A>G (p.Val1914=)
c.5697A>G (p.Val1899=)
n.6362A>G
Xg.77593743T>GCA517375213ATRXc.6063A>C (p.Val2021=)
c.1161A>C (p.Val387=)
c.5949A>C (p.Val1983=)
c.*5691A>C (n.*5691A>C)
c.547A>C
n.3133A>C
c.6060A>C (p.Val2020=)
c.5976A>C (p.Val1992=)
c.5946A>C (p.Val1982=)
c.5898A>C (p.Val1966=)
c.5859A>C (p.Val1953=)
c.5784A>C (p.Val1928=)
n.6405A>C
c.5973A>C (p.Val1991=)
c.5943A>C (p.Val1981=)
c.5895A>C (p.Val1965=)
c.5862A>C (p.Val1954=)
c.5832A>C (p.Val1944=)
c.5829A>C (p.Val1943=)
c.5781A>C (p.Val1927=)
c.5745A>C (p.Val1915=)
c.5742A>C (p.Val1914=)
c.5697A>C (p.Val1899=)
n.6362A>C
Xg.77593744A>CCA413702857ATRXc.6062T>G (p.Val2021Gly)
c.1160T>G (p.Val387Gly)
c.5948T>G (p.Val1983Gly)
c.*5690T>G (n.*5690T>G)
c.546T>G
n.3132T>G
c.6059T>G (p.Val2020Gly)
c.5975T>G (p.Val1992Gly)
c.5945T>G (p.Val1982Gly)
c.5897T>G (p.Val1966Gly)
c.5858T>G (p.Val1953Gly)
c.5783T>G (p.Val1928Gly)
n.6404T>G
c.5972T>G (p.Val1991Gly)
c.5942T>G (p.Val1981Gly)
c.5894T>G (p.Val1965Gly)
c.5861T>G (p.Val1954Gly)
c.5831T>G (p.Val1944Gly)
c.5828T>G (p.Val1943Gly)
c.5780T>G (p.Val1927Gly)
c.5744T>G (p.Val1915Gly)
c.5741T>G (p.Val1914Gly)
c.5696T>G (p.Val1899Gly)
n.6361T>G
Xg.77593744A>GCA413702859ATRXc.6062T>C (p.Val2021Ala)
c.1160T>C (p.Val387Ala)
c.5948T>C (p.Val1983Ala)
c.*5690T>C (n.*5690T>C)
c.546T>C
n.3132T>C
c.6059T>C (p.Val2020Ala)
c.5975T>C (p.Val1992Ala)
c.5945T>C (p.Val1982Ala)
c.5897T>C (p.Val1966Ala)
c.5858T>C (p.Val1953Ala)
c.5783T>C (p.Val1928Ala)
n.6404T>C
c.5972T>C (p.Val1991Ala)
c.5942T>C (p.Val1981Ala)
c.5894T>C (p.Val1965Ala)
c.5861T>C (p.Val1954Ala)
c.5831T>C (p.Val1944Ala)
c.5828T>C (p.Val1943Ala)
c.5780T>C (p.Val1927Ala)
c.5744T>C (p.Val1915Ala)
c.5741T>C (p.Val1914Ala)
c.5696T>C (p.Val1899Ala)
n.6361T>C
Xg.77593744A>TCA413702860ATRXc.6062T>A (p.Val2021Glu)
c.1160T>A (p.Val387Glu)
c.5948T>A (p.Val1983Glu)
c.*5690T>A (n.*5690T>A)
c.546T>A
n.3132T>A
c.6059T>A (p.Val2020Glu)
c.5975T>A (p.Val1992Glu)
c.5945T>A (p.Val1982Glu)
c.5897T>A (p.Val1966Glu)
c.5858T>A (p.Val1953Glu)
c.5783T>A (p.Val1928Glu)
n.6404T>A
c.5972T>A (p.Val1991Glu)
c.5942T>A (p.Val1981Glu)
c.5894T>A (p.Val1965Glu)
c.5861T>A (p.Val1954Glu)
c.5831T>A (p.Val1944Glu)
c.5828T>A (p.Val1943Glu)
c.5780T>A (p.Val1927Glu)
c.5744T>A (p.Val1915Glu)
c.5741T>A (p.Val1914Glu)
c.5696T>A (p.Val1899Glu)
n.6361T>A
Xg.77593745C>ACA413702865ATRXc.6061G>T (p.Val2021Leu)
c.1159G>T (p.Val387Leu)
c.5947G>T (p.Val1983Leu)
c.*5689G>T (n.*5689G>T)
c.545G>T
n.3131G>T
c.6058G>T (p.Val2020Leu)
c.5974G>T (p.Val1992Leu)
c.5944G>T (p.Val1982Leu)
c.5896G>T (p.Val1966Leu)
c.5857G>T (p.Val1953Leu)
c.5782G>T (p.Val1928Leu)
n.6403G>T
c.5971G>T (p.Val1991Leu)
c.5941G>T (p.Val1981Leu)
c.5893G>T (p.Val1965Leu)
c.5860G>T (p.Val1954Leu)
c.5830G>T (p.Val1944Leu)
c.5827G>T (p.Val1943Leu)
c.5779G>T (p.Val1927Leu)
c.5743G>T (p.Val1915Leu)
c.5740G>T (p.Val1914Leu)
c.5695G>T (p.Val1899Leu)
n.6360G>T
Xg.77593745C>GCA413702862ATRXc.6061G>C (p.Val2021Leu)
c.1159G>C (p.Val387Leu)
c.5947G>C (p.Val1983Leu)
c.*5689G>C (n.*5689G>C)
c.545G>C
n.3131G>C
c.6058G>C (p.Val2020Leu)
c.5974G>C (p.Val1992Leu)
c.5944G>C (p.Val1982Leu)
c.5896G>C (p.Val1966Leu)
c.5857G>C (p.Val1953Leu)
c.5782G>C (p.Val1928Leu)
n.6403G>C
c.5971G>C (p.Val1991Leu)
c.5941G>C (p.Val1981Leu)
c.5893G>C (p.Val1965Leu)
c.5860G>C (p.Val1954Leu)
c.5830G>C (p.Val1944Leu)
c.5827G>C (p.Val1943Leu)
c.5779G>C (p.Val1927Leu)
c.5743G>C (p.Val1915Leu)
c.5740G>C (p.Val1914Leu)
c.5695G>C (p.Val1899Leu)
n.6360G>C
Xg.77593745C>TCA413702864ATRXc.6061G>A (p.Val2021Ile)
c.1159G>A (p.Val387Ile)
c.5947G>A (p.Val1983Ile)
c.*5689G>A (n.*5689G>A)
c.545G>A
n.3131G>A
c.6058G>A (p.Val2020Ile)
c.5974G>A (p.Val1992Ile)
c.5944G>A (p.Val1982Ile)
c.5896G>A (p.Val1966Ile)
c.5857G>A (p.Val1953Ile)
c.5782G>A (p.Val1928Ile)
n.6403G>A
c.5971G>A (p.Val1991Ile)
c.5941G>A (p.Val1981Ile)
c.5893G>A (p.Val1965Ile)
c.5860G>A (p.Val1954Ile)
c.5830G>A (p.Val1944Ile)
c.5827G>A (p.Val1943Ile)
c.5779G>A (p.Val1927Ile)
c.5743G>A (p.Val1915Ile)
c.5740G>A (p.Val1914Ile)
c.5695G>A (p.Val1899Ile)
n.6360G>A
Xg.77593746C>ACA413702866ATRXc.6060G>T (p.Met2020Ile)
c.1158G>T (p.Met386Ile)
c.5946G>T (p.Met1982Ile)
c.*5688G>T (n.*5688G>T)
c.544G>T
n.3130G>T
c.6057G>T (p.Met2019Ile)
c.5973G>T (p.Met1991Ile)
c.5943G>T (p.Met1981Ile)
c.5895G>T (p.Met1965Ile)
c.5856G>T (p.Met1952Ile)
c.5781G>T (p.Met1927Ile)
n.6402G>T
c.5970G>T (p.Met1990Ile)
c.5940G>T (p.Met1980Ile)
c.5892G>T (p.Met1964Ile)
c.5859G>T (p.Met1953Ile)
c.5829G>T (p.Met1943Ile)
c.5826G>T (p.Met1942Ile)
c.5778G>T (p.Met1926Ile)
c.5742G>T (p.Met1914Ile)
c.5739G>T (p.Met1913Ile)
c.5694G>T (p.Met1898Ile)
n.6359G>T
Xg.77593746C>GCA413702867ATRXc.6060G>C (p.Met2020Ile)
c.1158G>C (p.Met386Ile)
c.5946G>C (p.Met1982Ile)
c.*5688G>C (n.*5688G>C)
c.544G>C
n.3130G>C
c.6057G>C (p.Met2019Ile)
c.5973G>C (p.Met1991Ile)
c.5943G>C (p.Met1981Ile)
c.5895G>C (p.Met1965Ile)
c.5856G>C (p.Met1952Ile)
c.5781G>C (p.Met1927Ile)
n.6402G>C
c.5970G>C (p.Met1990Ile)
c.5940G>C (p.Met1980Ile)
c.5892G>C (p.Met1964Ile)
c.5859G>C (p.Met1953Ile)
c.5829G>C (p.Met1943Ile)
c.5826G>C (p.Met1942Ile)
c.5778G>C (p.Met1926Ile)
c.5742G>C (p.Met1914Ile)
c.5739G>C (p.Met1913Ile)
c.5694G>C (p.Met1898Ile)
n.6359G>C
Xg.77593746C>TCA413702869ATRXc.6060G>A (p.Met2020Ile)
c.1158G>A (p.Met386Ile)
c.5946G>A (p.Met1982Ile)
c.*5688G>A (n.*5688G>A)
c.544G>A
n.3130G>A
c.6057G>A (p.Met2019Ile)
c.5973G>A (p.Met1991Ile)
c.5943G>A (p.Met1981Ile)
c.5895G>A (p.Met1965Ile)
c.5856G>A (p.Met1952Ile)
c.5781G>A (p.Met1927Ile)
n.6402G>A
c.5970G>A (p.Met1990Ile)
c.5940G>A (p.Met1980Ile)
c.5892G>A (p.Met1964Ile)
c.5859G>A (p.Met1953Ile)
c.5829G>A (p.Met1943Ile)
c.5826G>A (p.Met1942Ile)
c.5778G>A (p.Met1926Ile)
c.5742G>A (p.Met1914Ile)
c.5739G>A (p.Met1913Ile)
c.5694G>A (p.Met1898Ile)
n.6359G>A
Xg.77593747A>CCA413702871ATRXc.6059T>G (p.Met2020Arg)
c.1157T>G (p.Met386Arg)
c.5945T>G (p.Met1982Arg)
c.*5687T>G (n.*5687T>G)
c.543T>G
n.3129T>G
c.6056T>G (p.Met2019Arg)
c.5972T>G (p.Met1991Arg)
c.5942T>G (p.Met1981Arg)
c.5894T>G (p.Met1965Arg)
c.5855T>G (p.Met1952Arg)
c.5780T>G (p.Met1927Arg)
n.6401T>G
c.5969T>G (p.Met1990Arg)
c.5939T>G (p.Met1980Arg)
c.5891T>G (p.Met1964Arg)
c.5858T>G (p.Met1953Arg)
c.5828T>G (p.Met1943Arg)
c.5825T>G (p.Met1942Arg)
c.5777T>G (p.Met1926Arg)
c.5741T>G (p.Met1914Arg)
c.5738T>G (p.Met1913Arg)
c.5693T>G (p.Met1898Arg)
n.6358T>G
Xg.77593747A>GCA413702872ATRXc.6059T>C (p.Met2020Thr)
c.1157T>C (p.Met386Thr)
c.5945T>C (p.Met1982Thr)
c.*5687T>C (n.*5687T>C)
c.543T>C
n.3129T>C
c.6056T>C (p.Met2019Thr)
c.5972T>C (p.Met1991Thr)
c.5942T>C (p.Met1981Thr)
c.5894T>C (p.Met1965Thr)
c.5855T>C (p.Met1952Thr)
c.5780T>C (p.Met1927Thr)
n.6401T>C
c.5969T>C (p.Met1990Thr)
c.5939T>C (p.Met1980Thr)
c.5891T>C (p.Met1964Thr)
c.5858T>C (p.Met1953Thr)
c.5828T>C (p.Met1943Thr)
c.5825T>C (p.Met1942Thr)
c.5777T>C (p.Met1926Thr)
c.5741T>C (p.Met1914Thr)
c.5738T>C (p.Met1913Thr)
c.5693T>C (p.Met1898Thr)
n.6358T>C
Xg.77593747A>TCA413702873ATRXc.6059T>A (p.Met2020Lys)
c.1157T>A (p.Met386Lys)
c.5945T>A (p.Met1982Lys)
c.*5687T>A (n.*5687T>A)
c.543T>A
n.3129T>A
c.6056T>A (p.Met2019Lys)
c.5972T>A (p.Met1991Lys)
c.5942T>A (p.Met1981Lys)
c.5894T>A (p.Met1965Lys)
c.5855T>A (p.Met1952Lys)
c.5780T>A (p.Met1927Lys)
n.6401T>A
c.5969T>A (p.Met1990Lys)
c.5939T>A (p.Met1980Lys)
c.5891T>A (p.Met1964Lys)
c.5858T>A (p.Met1953Lys)
c.5828T>A (p.Met1943Lys)
c.5825T>A (p.Met1942Lys)
c.5777T>A (p.Met1926Lys)
c.5741T>A (p.Met1914Lys)
c.5738T>A (p.Met1913Lys)
c.5693T>A (p.Met1898Lys)
n.6358T>A
Xg.77593748T>ACA413702874ATRXc.6058A>T (p.Met2020Leu)
c.1156A>T (p.Met386Leu)
c.5944A>T (p.Met1982Leu)
c.*5686A>T (n.*5686A>T)
c.542A>T
n.3128A>T
c.6055A>T (p.Met2019Leu)
c.5971A>T (p.Met1991Leu)
c.5941A>T (p.Met1981Leu)
c.5893A>T (p.Met1965Leu)
c.5854A>T (p.Met1952Leu)
c.5779A>T (p.Met1927Leu)
n.6400A>T
c.5968A>T (p.Met1990Leu)
c.5938A>T (p.Met1980Leu)
c.5890A>T (p.Met1964Leu)
c.5857A>T (p.Met1953Leu)
c.5827A>T (p.Met1943Leu)
c.5824A>T (p.Met1942Leu)
c.5776A>T (p.Met1926Leu)
c.5740A>T (p.Met1914Leu)
c.5737A>T (p.Met1913Leu)
c.5692A>T (p.Met1898Leu)
n.6357A>T
Xg.77593748T>CCA413702875ATRXc.6058A>G (p.Met2020Val)
c.1156A>G (p.Met386Val)
c.5944A>G (p.Met1982Val)
c.*5686A>G (n.*5686A>G)
c.542A>G
n.3128A>G
c.6055A>G (p.Met2019Val)
c.5971A>G (p.Met1991Val)
c.5941A>G (p.Met1981Val)
c.5893A>G (p.Met1965Val)
c.5854A>G (p.Met1952Val)
c.5779A>G (p.Met1927Val)
n.6400A>G
c.5968A>G (p.Met1990Val)
c.5938A>G (p.Met1980Val)
c.5890A>G (p.Met1964Val)
c.5857A>G (p.Met1953Val)
c.5827A>G (p.Met1943Val)
c.5824A>G (p.Met1942Val)
c.5776A>G (p.Met1926Val)
c.5740A>G (p.Met1914Val)
c.5737A>G (p.Met1913Val)
c.5692A>G (p.Met1898Val)
n.6357A>G
 dbSNP gnomAD v2
Xg.77593748T>GCA413702878ATRXc.6058A>C (p.Met2020Leu)
c.1156A>C (p.Met386Leu)
c.5944A>C (p.Met1982Leu)
c.*5686A>C (n.*5686A>C)
c.542A>C
n.3128A>C
c.6055A>C (p.Met2019Leu)
c.5971A>C (p.Met1991Leu)
c.5941A>C (p.Met1981Leu)
c.5893A>C (p.Met1965Leu)
c.5854A>C (p.Met1952Leu)
c.5779A>C (p.Met1927Leu)
n.6400A>C
c.5968A>C (p.Met1990Leu)
c.5938A>C (p.Met1980Leu)
c.5890A>C (p.Met1964Leu)
c.5857A>C (p.Met1953Leu)
c.5827A>C (p.Met1943Leu)
c.5824A>C (p.Met1942Leu)
c.5776A>C (p.Met1926Leu)
c.5740A>C (p.Met1914Leu)
c.5737A>C (p.Met1913Leu)
c.5692A>C (p.Met1898Leu)
n.6357A>C
Xg.77593748T=CA2438957777ATRXc.6058A= (p.Met2020=)
c.1156A= (p.Met386=)
c.5944A= (p.Met1982=)
c.*5686A= (n.*5686A=)
c.542A=
n.3128A=
c.6055A= (p.Met2019=)
c.5971A= (p.Met1991=)
c.5941A= (p.Met1981=)
c.5893A= (p.Met1965=)
c.5854A= (p.Met1952=)
c.5779A= (p.Met1927=)
n.6400A=
c.5968A= (p.Met1990=)
c.5938A= (p.Met1980=)
c.5890A= (p.Met1964=)
c.5857A= (p.Met1953=)
c.5827A= (p.Met1943=)
c.5824A= (p.Met1942=)
c.5776A= (p.Met1926=)
c.5740A= (p.Met1914=)
c.5737A= (p.Met1913=)
c.5692A= (p.Met1898=)
n.6357A=
Xg.77593751dupCA2597087129ATRXc.6058dup (p.Met2020AsnfsTer6)
c.1156dup (p.Met386AsnfsTer6)
c.5944dup (p.Met1982AsnfsTer6)
c.*5686dup (n.*5686dup)
c.542dup
n.3128dup
c.6055dup (p.Met2019AsnfsTer6)
c.5971dup (p.Met1991AsnfsTer6)
c.5941dup (p.Met1981AsnfsTer6)
c.5893dup (p.Met1965AsnfsTer6)
c.5854dup (p.Met1952AsnfsTer6)
c.5779dup (p.Met1927AsnfsTer6)
n.6400dup
c.5968dup (p.Met1990AsnfsTer6)
c.5938dup (p.Met1980AsnfsTer6)
c.5890dup (p.Met1964AsnfsTer6)
c.5857dup (p.Met1953AsnfsTer6)
c.5827dup (p.Met1943AsnfsTer6)
c.5824dup (p.Met1942AsnfsTer6)
c.5776dup (p.Met1926AsnfsTer6)
c.5740dup (p.Met1914AsnfsTer6)
c.5737dup (p.Met1913AsnfsTer6)
c.5692dup (p.Met1898AsnfsTer6)
n.6357dup
 gnomAD v3 gnomAD v4
Xg.77593751delCA2738744699ATRXc.6058del (p.Met2020TrpfsTer30)
c.1156del (p.Met386TrpfsTer30)
c.5944del (p.Met1982TrpfsTer30)
c.*5686del (n.*5686del)
c.542del
n.3128del
c.6055del (p.Met2019TrpfsTer30)
c.5971del (p.Met1991TrpfsTer30)
c.5941del (p.Met1981TrpfsTer30)
c.5893del (p.Met1965TrpfsTer30)
c.5854del (p.Met1952TrpfsTer30)
c.5779del (p.Met1927TrpfsTer30)
n.6400del
c.5968del (p.Met1990TrpfsTer30)
c.5938del (p.Met1980TrpfsTer30)
c.5890del (p.Met1964TrpfsTer30)
c.5857del (p.Met1953TrpfsTer30)
c.5827del (p.Met1943TrpfsTer30)
c.5824del (p.Met1942TrpfsTer30)
c.5776del (p.Met1926TrpfsTer30)
c.5740del (p.Met1914TrpfsTer30)
c.5737del (p.Met1913TrpfsTer30)
c.5692del (p.Met1898TrpfsTer30)
n.6357del
 dbSNP
Xg.77593749T>ACA413702879ATRXc.6057A>T (p.Lys2019Asn)
c.1155A>T (p.Lys385Asn)
c.5943A>T (p.Lys1981Asn)
c.*5685A>T (n.*5685A>T)
c.541A>T
n.3127A>T
c.6054A>T (p.Lys2018Asn)
c.5970A>T (p.Lys1990Asn)
c.5940A>T (p.Lys1980Asn)
c.5892A>T (p.Lys1964Asn)
c.5853A>T (p.Lys1951Asn)
c.5778A>T (p.Lys1926Asn)
n.6399A>T
c.5967A>T (p.Lys1989Asn)
c.5937A>T (p.Lys1979Asn)
c.5889A>T (p.Lys1963Asn)
c.5856A>T (p.Lys1952Asn)
c.5826A>T (p.Lys1942Asn)
c.5823A>T (p.Lys1941Asn)
c.5775A>T (p.Lys1925Asn)
c.5739A>T (p.Lys1913Asn)
c.5736A>T (p.Lys1912Asn)
c.5691A>T (p.Lys1897Asn)
n.6356A>T
Xg.77593749T>CCA517375214ATRXc.6057A>G (p.Lys2019=)
c.1155A>G (p.Lys385=)
c.5943A>G (p.Lys1981=)
c.*5685A>G (n.*5685A>G)
c.541A>G
n.3127A>G
c.6054A>G (p.Lys2018=)
c.5970A>G (p.Lys1990=)
c.5940A>G (p.Lys1980=)
c.5892A>G (p.Lys1964=)
c.5853A>G (p.Lys1951=)
c.5778A>G (p.Lys1926=)
n.6399A>G
c.5967A>G (p.Lys1989=)
c.5937A>G (p.Lys1979=)
c.5889A>G (p.Lys1963=)
c.5856A>G (p.Lys1952=)
c.5826A>G (p.Lys1942=)
c.5823A>G (p.Lys1941=)
c.5775A>G (p.Lys1925=)
c.5739A>G (p.Lys1913=)
c.5736A>G (p.Lys1912=)
c.5691A>G (p.Lys1897=)
n.6356A>G
Xg.77593749T>GCA413702881ATRXc.6057A>C (p.Lys2019Asn)
c.1155A>C (p.Lys385Asn)
c.5943A>C (p.Lys1981Asn)
c.*5685A>C (n.*5685A>C)
c.541A>C
n.3127A>C
c.6054A>C (p.Lys2018Asn)
c.5970A>C (p.Lys1990Asn)
c.5940A>C (p.Lys1980Asn)
c.5892A>C (p.Lys1964Asn)
c.5853A>C (p.Lys1951Asn)
c.5778A>C (p.Lys1926Asn)
n.6399A>C
c.5967A>C (p.Lys1989Asn)
c.5937A>C (p.Lys1979Asn)
c.5889A>C (p.Lys1963Asn)
c.5856A>C (p.Lys1952Asn)
c.5826A>C (p.Lys1942Asn)
c.5823A>C (p.Lys1941Asn)
c.5775A>C (p.Lys1925Asn)
c.5739A>C (p.Lys1913Asn)
c.5736A>C (p.Lys1912Asn)
c.5691A>C (p.Lys1897Asn)
n.6356A>C
Xg.77593750T>ACA413702884ATRXc.6056A>T (p.Lys2019Ile)
c.1154A>T (p.Lys385Ile)
c.5942A>T (p.Lys1981Ile)
c.*5684A>T (n.*5684A>T)
c.540A>T
n.3126A>T
c.6053A>T (p.Lys2018Ile)
c.5969A>T (p.Lys1990Ile)
c.5939A>T (p.Lys1980Ile)
c.5891A>T (p.Lys1964Ile)
c.5852A>T (p.Lys1951Ile)
c.5777A>T (p.Lys1926Ile)
n.6398A>T
c.5966A>T (p.Lys1989Ile)
c.5936A>T (p.Lys1979Ile)
c.5888A>T (p.Lys1963Ile)
c.5855A>T (p.Lys1952Ile)
c.5825A>T (p.Lys1942Ile)
c.5822A>T (p.Lys1941Ile)
c.5774A>T (p.Lys1925Ile)
c.5738A>T (p.Lys1913Ile)
c.5735A>T (p.Lys1912Ile)
c.5690A>T (p.Lys1897Ile)
n.6355A>T
Xg.77593750T>CCA413702886ATRXc.6056A>G (p.Lys2019Arg)
c.1154A>G (p.Lys385Arg)
c.5942A>G (p.Lys1981Arg)
c.*5684A>G (n.*5684A>G)
c.540A>G
n.3126A>G
c.6053A>G (p.Lys2018Arg)
c.5969A>G (p.Lys1990Arg)
c.5939A>G (p.Lys1980Arg)
c.5891A>G (p.Lys1964Arg)
c.5852A>G (p.Lys1951Arg)
c.5777A>G (p.Lys1926Arg)
n.6398A>G
c.5966A>G (p.Lys1989Arg)
c.5936A>G (p.Lys1979Arg)
c.5888A>G (p.Lys1963Arg)
c.5855A>G (p.Lys1952Arg)
c.5825A>G (p.Lys1942Arg)
c.5822A>G (p.Lys1941Arg)
c.5774A>G (p.Lys1925Arg)
c.5738A>G (p.Lys1913Arg)
c.5735A>G (p.Lys1912Arg)
c.5690A>G (p.Lys1897Arg)
n.6355A>G
Xg.77593750T>GCA413702882ATRXc.6056A>C (p.Lys2019Thr)
c.1154A>C (p.Lys385Thr)
c.5942A>C (p.Lys1981Thr)
c.*5684A>C (n.*5684A>C)
c.540A>C
n.3126A>C
c.6053A>C (p.Lys2018Thr)
c.5969A>C (p.Lys1990Thr)
c.5939A>C (p.Lys1980Thr)
c.5891A>C (p.Lys1964Thr)
c.5852A>C (p.Lys1951Thr)
c.5777A>C (p.Lys1926Thr)
n.6398A>C
c.5966A>C (p.Lys1989Thr)
c.5936A>C (p.Lys1979Thr)
c.5888A>C (p.Lys1963Thr)
c.5855A>C (p.Lys1952Thr)
c.5825A>C (p.Lys1942Thr)
c.5822A>C (p.Lys1941Thr)
c.5774A>C (p.Lys1925Thr)
c.5738A>C (p.Lys1913Thr)
c.5735A>C (p.Lys1912Thr)
c.5690A>C (p.Lys1897Thr)
n.6355A>C
Xg.77593751T>ACA413702890ATRXc.6055A>T (p.Lys2019Ter)
c.1153A>T (p.Lys385Ter)
c.5941A>T (p.Lys1981Ter)
c.*5683A>T (n.*5683A>T)
c.539A>T
n.3125A>T
c.6052A>T (p.Lys2018Ter)
c.5968A>T (p.Lys1990Ter)
c.5938A>T (p.Lys1980Ter)
c.5890A>T (p.Lys1964Ter)
c.5851A>T (p.Lys1951Ter)
c.5776A>T (p.Lys1926Ter)
n.6397A>T
c.5965A>T (p.Lys1989Ter)
c.5935A>T (p.Lys1979Ter)
c.5887A>T (p.Lys1963Ter)
c.5854A>T (p.Lys1952Ter)
c.5824A>T (p.Lys1942Ter)
c.5821A>T (p.Lys1941Ter)
c.5773A>T (p.Lys1925Ter)
c.5737A>T (p.Lys1913Ter)
c.5734A>T (p.Lys1912Ter)
c.5689A>T (p.Lys1897Ter)
n.6354A>T
Xg.77593751T>CCA413702888ATRXc.6055A>G (p.Lys2019Glu)
c.1153A>G (p.Lys385Glu)
c.5941A>G (p.Lys1981Glu)
c.*5683A>G (n.*5683A>G)
c.539A>G
n.3125A>G
c.6052A>G (p.Lys2018Glu)
c.5968A>G (p.Lys1990Glu)
c.5938A>G (p.Lys1980Glu)
c.5890A>G (p.Lys1964Glu)
c.5851A>G (p.Lys1951Glu)
c.5776A>G (p.Lys1926Glu)
n.6397A>G
c.5965A>G (p.Lys1989Glu)
c.5935A>G (p.Lys1979Glu)
c.5887A>G (p.Lys1963Glu)
c.5854A>G (p.Lys1952Glu)
c.5824A>G (p.Lys1942Glu)
c.5821A>G (p.Lys1941Glu)
c.5773A>G (p.Lys1925Glu)
c.5737A>G (p.Lys1913Glu)
c.5734A>G (p.Lys1912Glu)
c.5689A>G (p.Lys1897Glu)
n.6354A>G
 COSMIC COSMIC
Xg.77593751T>GCA413702889ATRXc.6055A>C (p.Lys2019Gln)
c.1153A>C (p.Lys385Gln)
c.5941A>C (p.Lys1981Gln)
c.*5683A>C (n.*5683A>C)
c.539A>C
n.3125A>C
c.6052A>C (p.Lys2018Gln)
c.5968A>C (p.Lys1990Gln)
c.5938A>C (p.Lys1980Gln)
c.5890A>C (p.Lys1964Gln)
c.5851A>C (p.Lys1951Gln)
c.5776A>C (p.Lys1926Gln)
n.6397A>C
c.5965A>C (p.Lys1989Gln)
c.5935A>C (p.Lys1979Gln)
c.5887A>C (p.Lys1963Gln)
c.5854A>C (p.Lys1952Gln)
c.5824A>C (p.Lys1942Gln)
c.5821A>C (p.Lys1941Gln)
c.5773A>C (p.Lys1925Gln)
c.5737A>C (p.Lys1913Gln)
c.5734A>C (p.Lys1912Gln)
c.5689A>C (p.Lys1897Gln)
n.6354A>C
Xg.77593752C>ACA517375215ATRXc.6054G>T (p.Gly2018=)
c.1152G>T (p.Gly384=)
c.5940G>T (p.Gly1980=)
c.*5682G>T (n.*5682G>T)
c.538G>T
n.3124G>T
c.6051G>T (p.Gly2017=)
c.5967G>T (p.Gly1989=)
c.5937G>T (p.Gly1979=)
c.5889G>T (p.Gly1963=)
c.5850G>T (p.Gly1950=)
c.5775G>T (p.Gly1925=)
n.6396G>T
c.5964G>T (p.Gly1988=)
c.5934G>T (p.Gly1978=)
c.5886G>T (p.Gly1962=)
c.5853G>T (p.Gly1951=)
c.5823G>T (p.Gly1941=)
c.5820G>T (p.Gly1940=)
c.5772G>T (p.Gly1924=)
c.5736G>T (p.Gly1912=)
c.5733G>T (p.Gly1911=)
c.5688G>T (p.Gly1896=)
n.6353G>T
Xg.77593752C>GCA517375216ATRXc.6054G>C (p.Gly2018=)
c.1152G>C (p.Gly384=)
c.5940G>C (p.Gly1980=)
c.*5682G>C (n.*5682G>C)
c.538G>C
n.3124G>C
c.6051G>C (p.Gly2017=)
c.5967G>C (p.Gly1989=)
c.5937G>C (p.Gly1979=)
c.5889G>C (p.Gly1963=)
c.5850G>C (p.Gly1950=)
c.5775G>C (p.Gly1925=)
n.6396G>C
c.5964G>C (p.Gly1988=)
c.5934G>C (p.Gly1978=)
c.5886G>C (p.Gly1962=)
c.5853G>C (p.Gly1951=)
c.5823G>C (p.Gly1941=)
c.5820G>C (p.Gly1940=)
c.5772G>C (p.Gly1924=)
c.5736G>C (p.Gly1912=)
c.5733G>C (p.Gly1911=)
c.5688G>C (p.Gly1896=)
n.6353G>C
 ClinVar
Xg.77593752C>TCA517375217ATRXc.6054G>A (p.Gly2018=)
c.1152G>A (p.Gly384=)
c.5940G>A (p.Gly1980=)
c.*5682G>A (n.*5682G>A)
c.538G>A
n.3124G>A
c.6051G>A (p.Gly2017=)
c.5967G>A (p.Gly1989=)
c.5937G>A (p.Gly1979=)
c.5889G>A (p.Gly1963=)
c.5850G>A (p.Gly1950=)
c.5775G>A (p.Gly1925=)
n.6396G>A
c.5964G>A (p.Gly1988=)
c.5934G>A (p.Gly1978=)
c.5886G>A (p.Gly1962=)
c.5853G>A (p.Gly1951=)
c.5823G>A (p.Gly1941=)
c.5820G>A (p.Gly1940=)
c.5772G>A (p.Gly1924=)
c.5736G>A (p.Gly1912=)
c.5733G>A (p.Gly1911=)
c.5688G>A (p.Gly1896=)
n.6353G>A
 gnomAD v4 COSMIC COSMIC
Xg.77593753C>ACA413702892ATRXc.6053G>T (p.Gly2018Val)
c.1151G>T (p.Gly384Val)
c.5939G>T (p.Gly1980Val)
c.*5681G>T (n.*5681G>T)
c.537G>T
n.3123G>T
c.6050G>T (p.Gly2017Val)
c.5966G>T (p.Gly1989Val)
c.5936G>T (p.Gly1979Val)
c.5888G>T (p.Gly1963Val)
c.5849G>T (p.Gly1950Val)
c.5774G>T (p.Gly1925Val)
n.6395G>T
c.5963G>T (p.Gly1988Val)
c.5933G>T (p.Gly1978Val)
c.5885G>T (p.Gly1962Val)
c.5852G>T (p.Gly1951Val)
c.5822G>T (p.Gly1941Val)
c.5819G>T (p.Gly1940Val)
c.5771G>T (p.Gly1924Val)
c.5735G>T (p.Gly1912Val)
c.5732G>T (p.Gly1911Val)
c.5687G>T (p.Gly1896Val)
n.6352G>T
 dbSNP
Xg.77593753C>GCA413702894ATRXc.6053G>C (p.Gly2018Ala)
c.1151G>C (p.Gly384Ala)
c.5939G>C (p.Gly1980Ala)
c.*5681G>C (n.*5681G>C)
c.537G>C
n.3123G>C
c.6050G>C (p.Gly2017Ala)
c.5966G>C (p.Gly1989Ala)
c.5936G>C (p.Gly1979Ala)
c.5888G>C (p.Gly1963Ala)
c.5849G>C (p.Gly1950Ala)
c.5774G>C (p.Gly1925Ala)
n.6395G>C
c.5963G>C (p.Gly1988Ala)
c.5933G>C (p.Gly1978Ala)
c.5885G>C (p.Gly1962Ala)
c.5852G>C (p.Gly1951Ala)
c.5822G>C (p.Gly1941Ala)
c.5819G>C (p.Gly1940Ala)
c.5771G>C (p.Gly1924Ala)
c.5735G>C (p.Gly1912Ala)
c.5732G>C (p.Gly1911Ala)
c.5687G>C (p.Gly1896Ala)
n.6352G>C
Xg.77593753C>TCA413702895ATRXc.6053G>A (p.Gly2018Glu)
c.1151G>A (p.Gly384Glu)
c.5939G>A (p.Gly1980Glu)
c.*5681G>A (n.*5681G>A)
c.537G>A
n.3123G>A
c.6050G>A (p.Gly2017Glu)
c.5966G>A (p.Gly1989Glu)
c.5936G>A (p.Gly1979Glu)
c.5888G>A (p.Gly1963Glu)
c.5849G>A (p.Gly1950Glu)
c.5774G>A (p.Gly1925Glu)
n.6395G>A
c.5963G>A (p.Gly1988Glu)
c.5933G>A (p.Gly1978Glu)
c.5885G>A (p.Gly1962Glu)
c.5852G>A (p.Gly1951Glu)
c.5822G>A (p.Gly1941Glu)
c.5819G>A (p.Gly1940Glu)
c.5771G>A (p.Gly1924Glu)
c.5735G>A (p.Gly1912Glu)
c.5732G>A (p.Gly1911Glu)
c.5687G>A (p.Gly1896Glu)
n.6352G>A
Xg.77593754C>ACA413702897ATRXc.6052G>T (p.Gly2018Trp)
c.1150G>T (p.Gly384Trp)
c.5938G>T (p.Gly1980Trp)
c.*5680G>T (n.*5680G>T)
c.536G>T
n.3122G>T
c.6049G>T (p.Gly2017Trp)
c.5965G>T (p.Gly1989Trp)
c.5935G>T (p.Gly1979Trp)
c.5887G>T (p.Gly1963Trp)
c.5848G>T (p.Gly1950Trp)
c.5773G>T (p.Gly1925Trp)
n.6394G>T
c.5962G>T (p.Gly1988Trp)
c.5932G>T (p.Gly1978Trp)
c.5884G>T (p.Gly1962Trp)
c.5851G>T (p.Gly1951Trp)
c.5821G>T (p.Gly1941Trp)
c.5818G>T (p.Gly1940Trp)
c.5770G>T (p.Gly1924Trp)
c.5734G>T (p.Gly1912Trp)
c.5731G>T (p.Gly1911Trp)
c.5686G>T (p.Gly1896Trp)
n.6351G>T
Xg.77593754C>GCA413702899ATRXc.6052G>C (p.Gly2018Arg)
c.1150G>C (p.Gly384Arg)
c.5938G>C (p.Gly1980Arg)
c.*5680G>C (n.*5680G>C)
c.536G>C
n.3122G>C
c.6049G>C (p.Gly2017Arg)
c.5965G>C (p.Gly1989Arg)
c.5935G>C (p.Gly1979Arg)
c.5887G>C (p.Gly1963Arg)
c.5848G>C (p.Gly1950Arg)
c.5773G>C (p.Gly1925Arg)
n.6394G>C
c.5962G>C (p.Gly1988Arg)
c.5932G>C (p.Gly1978Arg)
c.5884G>C (p.Gly1962Arg)
c.5851G>C (p.Gly1951Arg)
c.5821G>C (p.Gly1941Arg)
c.5818G>C (p.Gly1940Arg)
c.5770G>C (p.Gly1924Arg)
c.5734G>C (p.Gly1912Arg)
c.5731G>C (p.Gly1911Arg)
c.5686G>C (p.Gly1896Arg)
n.6351G>C
Xg.77593754C>TCA413702901ATRXc.6052G>A (p.Gly2018Arg)
c.1150G>A (p.Gly384Arg)
c.5938G>A (p.Gly1980Arg)
c.*5680G>A (n.*5680G>A)
c.536G>A
n.3122G>A
c.6049G>A (p.Gly2017Arg)
c.5965G>A (p.Gly1989Arg)
c.5935G>A (p.Gly1979Arg)
c.5887G>A (p.Gly1963Arg)
c.5848G>A (p.Gly1950Arg)
c.5773G>A (p.Gly1925Arg)
n.6394G>A
c.5962G>A (p.Gly1988Arg)
c.5932G>A (p.Gly1978Arg)
c.5884G>A (p.Gly1962Arg)
c.5851G>A (p.Gly1951Arg)
c.5821G>A (p.Gly1941Arg)
c.5818G>A (p.Gly1940Arg)
c.5770G>A (p.Gly1924Arg)
c.5734G>A (p.Gly1912Arg)
c.5731G>A (p.Gly1911Arg)
c.5686G>A (p.Gly1896Arg)
n.6351G>A
Xg.77593755A>CCA517375219ATRXc.6051T>G (p.Ser2017=)
c.1149T>G (p.Ser383=)
c.5937T>G (p.Ser1979=)
c.*5679T>G (n.*5679T>G)
c.535T>G
n.3121T>G
c.6048T>G (p.Ser2016=)
c.5964T>G (p.Ser1988=)
c.5934T>G (p.Ser1978=)
c.5886T>G (p.Ser1962=)
c.5847T>G (p.Ser1949=)
c.5772T>G (p.Ser1924=)
n.6393T>G
c.5961T>G (p.Ser1987=)
c.5931T>G (p.Ser1977=)
c.5883T>G (p.Ser1961=)
c.5850T>G (p.Ser1950=)
c.5820T>G (p.Ser1940=)
c.5817T>G (p.Ser1939=)
c.5769T>G (p.Ser1923=)
c.5733T>G (p.Ser1911=)
c.5730T>G (p.Ser1910=)
c.5685T>G (p.Ser1895=)
n.6350T>G
Xg.77593755A>GCA517375220ATRXc.6051T>C (p.Ser2017=)
c.1149T>C (p.Ser383=)
c.5937T>C (p.Ser1979=)
c.*5679T>C (n.*5679T>C)
c.535T>C
n.3121T>C
c.6048T>C (p.Ser2016=)
c.5964T>C (p.Ser1988=)
c.5934T>C (p.Ser1978=)
c.5886T>C (p.Ser1962=)
c.5847T>C (p.Ser1949=)
c.5772T>C (p.Ser1924=)
n.6393T>C
c.5961T>C (p.Ser1987=)
c.5931T>C (p.Ser1977=)
c.5883T>C (p.Ser1961=)
c.5850T>C (p.Ser1950=)
c.5820T>C (p.Ser1940=)
c.5817T>C (p.Ser1939=)
c.5769T>C (p.Ser1923=)
c.5733T>C (p.Ser1911=)
c.5730T>C (p.Ser1910=)
c.5685T>C (p.Ser1895=)
n.6350T>C
Xg.77593755A>TCA517375218ATRXc.6051T>A (p.Ser2017=)
c.1149T>A (p.Ser383=)
c.5937T>A (p.Ser1979=)
c.*5679T>A (n.*5679T>A)
c.535T>A
n.3121T>A
c.6048T>A (p.Ser2016=)
c.5964T>A (p.Ser1988=)
c.5934T>A (p.Ser1978=)
c.5886T>A (p.Ser1962=)
c.5847T>A (p.Ser1949=)
c.5772T>A (p.Ser1924=)
n.6393T>A
c.5961T>A (p.Ser1987=)
c.5931T>A (p.Ser1977=)
c.5883T>A (p.Ser1961=)
c.5850T>A (p.Ser1950=)
c.5820T>A (p.Ser1940=)
c.5817T>A (p.Ser1939=)
c.5769T>A (p.Ser1923=)
c.5733T>A (p.Ser1911=)
c.5730T>A (p.Ser1910=)
c.5685T>A (p.Ser1895=)
n.6350T>A
Xg.77593756G>ACA413702903ATRXc.6050C>T (p.Ser2017Phe)
c.1148C>T (p.Ser383Phe)
c.5936C>T (p.Ser1979Phe)
c.*5678C>T (n.*5678C>T)
c.534C>T
n.3120C>T
c.6047C>T (p.Ser2016Phe)
c.5963C>T (p.Ser1988Phe)
c.5933C>T (p.Ser1978Phe)
c.5885C>T (p.Ser1962Phe)
c.5846C>T (p.Ser1949Phe)
c.5771C>T (p.Ser1924Phe)
n.6392C>T
c.5960C>T (p.Ser1987Phe)
c.5930C>T (p.Ser1977Phe)
c.5882C>T (p.Ser1961Phe)
c.5849C>T (p.Ser1950Phe)
c.5819C>T (p.Ser1940Phe)
c.5816C>T (p.Ser1939Phe)
c.5768C>T (p.Ser1923Phe)
c.5732C>T (p.Ser1911Phe)
c.5729C>T (p.Ser1910Phe)
c.5684C>T (p.Ser1895Phe)
n.6349C>T
Xg.77593756G>CCA413702905ATRXc.6050C>G (p.Ser2017Cys)
c.1148C>G (p.Ser383Cys)
c.5936C>G (p.Ser1979Cys)
c.*5678C>G (n.*5678C>G)
c.534C>G
n.3120C>G
c.6047C>G (p.Ser2016Cys)
c.5963C>G (p.Ser1988Cys)
c.5933C>G (p.Ser1978Cys)
c.5885C>G (p.Ser1962Cys)
c.5846C>G (p.Ser1949Cys)
c.5771C>G (p.Ser1924Cys)
n.6392C>G
c.5960C>G (p.Ser1987Cys)
c.5930C>G (p.Ser1977Cys)
c.5882C>G (p.Ser1961Cys)
c.5849C>G (p.Ser1950Cys)
c.5819C>G (p.Ser1940Cys)
c.5816C>G (p.Ser1939Cys)
c.5768C>G (p.Ser1923Cys)
c.5732C>G (p.Ser1911Cys)
c.5729C>G (p.Ser1910Cys)
c.5684C>G (p.Ser1895Cys)
n.6349C>G
Xg.77593756G>TCA413702907ATRXc.6050C>A (p.Ser2017Tyr)
c.1148C>A (p.Ser383Tyr)
c.5936C>A (p.Ser1979Tyr)
c.*5678C>A (n.*5678C>A)
c.534C>A
n.3120C>A
c.6047C>A (p.Ser2016Tyr)
c.5963C>A (p.Ser1988Tyr)
c.5933C>A (p.Ser1978Tyr)
c.5885C>A (p.Ser1962Tyr)
c.5846C>A (p.Ser1949Tyr)
c.5771C>A (p.Ser1924Tyr)
n.6392C>A
c.5960C>A (p.Ser1987Tyr)
c.5930C>A (p.Ser1977Tyr)
c.5882C>A (p.Ser1961Tyr)
c.5849C>A (p.Ser1950Tyr)
c.5819C>A (p.Ser1940Tyr)
c.5816C>A (p.Ser1939Tyr)
c.5768C>A (p.Ser1923Tyr)
c.5732C>A (p.Ser1911Tyr)
c.5729C>A (p.Ser1910Tyr)
c.5684C>A (p.Ser1895Tyr)
n.6349C>A
Xg.77593757A>CCA413702912ATRXc.6049T>G (p.Ser2017Ala)
c.1147T>G (p.Ser383Ala)
c.5935T>G (p.Ser1979Ala)
c.*5677T>G (n.*5677T>G)
c.533T>G
n.3119T>G
c.6046T>G (p.Ser2016Ala)
c.5962T>G (p.Ser1988Ala)
c.5932T>G (p.Ser1978Ala)
c.5884T>G (p.Ser1962Ala)
c.5845T>G (p.Ser1949Ala)
c.5770T>G (p.Ser1924Ala)
n.6391T>G
c.5959T>G (p.Ser1987Ala)
c.5929T>G (p.Ser1977Ala)
c.5881T>G (p.Ser1961Ala)
c.5848T>G (p.Ser1950Ala)
c.5818T>G (p.Ser1940Ala)
c.5815T>G (p.Ser1939Ala)
c.5767T>G (p.Ser1923Ala)
c.5731T>G (p.Ser1911Ala)
c.5728T>G (p.Ser1910Ala)
c.5683T>G (p.Ser1895Ala)
n.6348T>G
Xg.77593757A>GCA413702910ATRXc.6049T>C (p.Ser2017Pro)
c.1147T>C (p.Ser383Pro)
c.5935T>C (p.Ser1979Pro)
c.*5677T>C (n.*5677T>C)
c.533T>C
n.3119T>C
c.6046T>C (p.Ser2016Pro)
c.5962T>C (p.Ser1988Pro)
c.5932T>C (p.Ser1978Pro)
c.5884T>C (p.Ser1962Pro)
c.5845T>C (p.Ser1949Pro)
c.5770T>C (p.Ser1924Pro)
n.6391T>C
c.5959T>C (p.Ser1987Pro)
c.5929T>C (p.Ser1977Pro)
c.5881T>C (p.Ser1961Pro)
c.5848T>C (p.Ser1950Pro)
c.5818T>C (p.Ser1940Pro)
c.5815T>C (p.Ser1939Pro)
c.5767T>C (p.Ser1923Pro)
c.5731T>C (p.Ser1911Pro)
c.5728T>C (p.Ser1910Pro)
c.5683T>C (p.Ser1895Pro)
n.6348T>C
 COSMIC COSMIC
Xg.77593757A>TCA413702908ATRXc.6049T>A (p.Ser2017Thr)
c.1147T>A (p.Ser383Thr)
c.5935T>A (p.Ser1979Thr)
c.*5677T>A (n.*5677T>A)
c.533T>A
n.3119T>A
c.6046T>A (p.Ser2016Thr)
c.5962T>A (p.Ser1988Thr)
c.5932T>A (p.Ser1978Thr)
c.5884T>A (p.Ser1962Thr)
c.5845T>A (p.Ser1949Thr)
c.5770T>A (p.Ser1924Thr)
n.6391T>A
c.5959T>A (p.Ser1987Thr)
c.5929T>A (p.Ser1977Thr)
c.5881T>A (p.Ser1961Thr)
c.5848T>A (p.Ser1950Thr)
c.5818T>A (p.Ser1940Thr)
c.5815T>A (p.Ser1939Thr)
c.5767T>A (p.Ser1923Thr)
c.5731T>A (p.Ser1911Thr)
c.5728T>A (p.Ser1910Thr)
c.5683T>A (p.Ser1895Thr)
n.6348T>A
Xg.77593758A>CCA413702914ATRXc.6048T>G (p.His2016Gln)
c.1146T>G (p.His382Gln)
c.5934T>G (p.His1978Gln)
c.*5676T>G (n.*5676T>G)
c.532T>G
n.3118T>G
c.6045T>G (p.His2015Gln)
c.5961T>G (p.His1987Gln)
c.5931T>G (p.His1977Gln)
c.5883T>G (p.His1961Gln)
c.5844T>G (p.His1948Gln)
c.5769T>G (p.His1923Gln)
n.6390T>G
c.5958T>G (p.His1986Gln)
c.5928T>G (p.His1976Gln)
c.5880T>G (p.His1960Gln)
c.5847T>G (p.His1949Gln)
c.5817T>G (p.His1939Gln)
c.5814T>G (p.His1938Gln)
c.5766T>G (p.His1922Gln)
c.5730T>G (p.His1910Gln)
c.5727T>G (p.His1909Gln)
c.5682T>G (p.His1894Gln)
n.6347T>G
Xg.77593758A>GCA517375221ATRXc.6048T>C (p.His2016=)
c.1146T>C (p.His382=)
c.5934T>C (p.His1978=)
c.*5676T>C (n.*5676T>C)
c.532T>C
n.3118T>C
c.6045T>C (p.His2015=)
c.5961T>C (p.His1987=)
c.5931T>C (p.His1977=)
c.5883T>C (p.His1961=)
c.5844T>C (p.His1948=)
c.5769T>C (p.His1923=)
n.6390T>C
c.5958T>C (p.His1986=)
c.5928T>C (p.His1976=)
c.5880T>C (p.His1960=)
c.5847T>C (p.His1949=)
c.5817T>C (p.His1939=)
c.5814T>C (p.His1938=)
c.5766T>C (p.His1922=)
c.5730T>C (p.His1910=)
c.5727T>C (p.His1909=)
c.5682T>C (p.His1894=)
n.6347T>C
Xg.77593758A>TCA413702915ATRXc.6048T>A (p.His2016Gln)
c.1146T>A (p.His382Gln)
c.5934T>A (p.His1978Gln)
c.*5676T>A (n.*5676T>A)
c.532T>A
n.3118T>A
c.6045T>A (p.His2015Gln)
c.5961T>A (p.His1987Gln)
c.5931T>A (p.His1977Gln)
c.5883T>A (p.His1961Gln)
c.5844T>A (p.His1948Gln)
c.5769T>A (p.His1923Gln)
n.6390T>A
c.5958T>A (p.His1986Gln)
c.5928T>A (p.His1976Gln)
c.5880T>A (p.His1960Gln)
c.5847T>A (p.His1949Gln)
c.5817T>A (p.His1939Gln)
c.5814T>A (p.His1938Gln)
c.5766T>A (p.His1922Gln)
c.5730T>A (p.His1910Gln)
c.5727T>A (p.His1909Gln)
c.5682T>A (p.His1894Gln)
n.6347T>A
Xg.77593759T>ACA413702917ATRXc.6047A>T (p.His2016Leu)
c.1145A>T (p.His382Leu)
c.5933A>T (p.His1978Leu)
c.*5675A>T (n.*5675A>T)
c.531A>T
n.3117A>T
c.6044A>T (p.His2015Leu)
c.5960A>T (p.His1987Leu)
c.5930A>T (p.His1977Leu)
c.5882A>T (p.His1961Leu)
c.5843A>T (p.His1948Leu)
c.5768A>T (p.His1923Leu)
n.6389A>T
c.5957A>T (p.His1986Leu)
c.5927A>T (p.His1976Leu)
c.5879A>T (p.His1960Leu)
c.5846A>T (p.His1949Leu)
c.5816A>T (p.His1939Leu)
c.5813A>T (p.His1938Leu)
c.5765A>T (p.His1922Leu)
c.5729A>T (p.His1910Leu)
c.5726A>T (p.His1909Leu)
c.5681A>T (p.His1894Leu)
n.6346A>T
Xg.77593759T>CCA413702918ATRXc.6047A>G (p.His2016Arg)
c.1145A>G (p.His382Arg)
c.5933A>G (p.His1978Arg)
c.*5675A>G (n.*5675A>G)
c.531A>G
n.3117A>G
c.6044A>G (p.His2015Arg)
c.5960A>G (p.His1987Arg)
c.5930A>G (p.His1977Arg)
c.5882A>G (p.His1961Arg)
c.5843A>G (p.His1948Arg)
c.5768A>G (p.His1923Arg)
n.6389A>G
c.5957A>G (p.His1986Arg)
c.5927A>G (p.His1976Arg)
c.5879A>G (p.His1960Arg)
c.5846A>G (p.His1949Arg)
c.5816A>G (p.His1939Arg)
c.5813A>G (p.His1938Arg)
c.5765A>G (p.His1922Arg)
c.5729A>G (p.His1910Arg)
c.5726A>G (p.His1909Arg)
c.5681A>G (p.His1894Arg)
n.6346A>G
 COSMIC COSMIC
Xg.77593759T>GCA413702920ATRXc.6047A>C (p.His2016Pro)
c.1145A>C (p.His382Pro)
c.5933A>C (p.His1978Pro)
c.*5675A>C (n.*5675A>C)
c.531A>C
n.3117A>C
c.6044A>C (p.His2015Pro)
c.5960A>C (p.His1987Pro)
c.5930A>C (p.His1977Pro)
c.5882A>C (p.His1961Pro)
c.5843A>C (p.His1948Pro)
c.5768A>C (p.His1923Pro)
n.6389A>C
c.5957A>C (p.His1986Pro)
c.5927A>C (p.His1976Pro)
c.5879A>C (p.His1960Pro)
c.5846A>C (p.His1949Pro)
c.5816A>C (p.His1939Pro)
c.5813A>C (p.His1938Pro)
c.5765A>C (p.His1922Pro)
c.5729A>C (p.His1910Pro)
c.5726A>C (p.His1909Pro)
c.5681A>C (p.His1894Pro)
n.6346A>C
Xg.77593760G>ACA413702922ATRXc.6046C>T (p.His2016Tyr)
c.1144C>T (p.His382Tyr)
c.5932C>T (p.His1978Tyr)
c.*5674C>T (n.*5674C>T)
c.530C>T
n.3116C>T
c.6043C>T (p.His2015Tyr)
c.5959C>T (p.His1987Tyr)
c.5929C>T (p.His1977Tyr)
c.5881C>T (p.His1961Tyr)
c.5842C>T (p.His1948Tyr)
c.5767C>T (p.His1923Tyr)
n.6388C>T
c.5956C>T (p.His1986Tyr)
c.5926C>T (p.His1976Tyr)
c.5878C>T (p.His1960Tyr)
c.5845C>T (p.His1949Tyr)
c.5815C>T (p.His1939Tyr)
c.5812C>T (p.His1938Tyr)
c.5764C>T (p.His1922Tyr)
c.5728C>T (p.His1910Tyr)
c.5725C>T (p.His1909Tyr)
c.5680C>T (p.His1894Tyr)
n.6345C>T
Xg.77593760G>CCA413702923ATRXc.6046C>G (p.His2016Asp)
c.1144C>G (p.His382Asp)
c.5932C>G (p.His1978Asp)
c.*5674C>G (n.*5674C>G)
c.530C>G
n.3116C>G
c.6043C>G (p.His2015Asp)
c.5959C>G (p.His1987Asp)
c.5929C>G (p.His1977Asp)
c.5881C>G (p.His1961Asp)
c.5842C>G (p.His1948Asp)
c.5767C>G (p.His1923Asp)
n.6388C>G
c.5956C>G (p.His1986Asp)
c.5926C>G (p.His1976Asp)
c.5878C>G (p.His1960Asp)
c.5845C>G (p.His1949Asp)
c.5815C>G (p.His1939Asp)
c.5812C>G (p.His1938Asp)
c.5764C>G (p.His1922Asp)
c.5728C>G (p.His1910Asp)
c.5725C>G (p.His1909Asp)
c.5680C>G (p.His1894Asp)
n.6345C>G
Xg.77593760G>TCA413702924ATRXc.6046C>A (p.His2016Asn)
c.1144C>A (p.His382Asn)
c.5932C>A (p.His1978Asn)
c.*5674C>A (n.*5674C>A)
c.530C>A
n.3116C>A
c.6043C>A (p.His2015Asn)
c.5959C>A (p.His1987Asn)
c.5929C>A (p.His1977Asn)
c.5881C>A (p.His1961Asn)
c.5842C>A (p.His1948Asn)
c.5767C>A (p.His1923Asn)
n.6388C>A
c.5956C>A (p.His1986Asn)
c.5926C>A (p.His1976Asn)
c.5878C>A (p.His1960Asn)
c.5845C>A (p.His1949Asn)
c.5815C>A (p.His1939Asn)
c.5812C>A (p.His1938Asn)
c.5764C>A (p.His1922Asn)
c.5728C>A (p.His1910Asn)
c.5725C>A (p.His1909Asn)
c.5680C>A (p.His1894Asn)
n.6345C>A
Xg.77593761C>ACA413702927ATRXc.6045G>T (p.Glu2015Asp)
c.1143G>T (p.Glu381Asp)
c.5931G>T (p.Glu1977Asp)
c.*5673G>T (n.*5673G>T)
c.529G>T
n.3115G>T
c.6042G>T (p.Glu2014Asp)
c.5958G>T (p.Glu1986Asp)
c.5928G>T (p.Glu1976Asp)
c.5880G>T (p.Glu1960Asp)
c.5841G>T (p.Glu1947Asp)
c.5766G>T (p.Glu1922Asp)
n.6387G>T
c.5955G>T (p.Glu1985Asp)
c.5925G>T (p.Glu1975Asp)
c.5877G>T (p.Glu1959Asp)
c.5844G>T (p.Glu1948Asp)
c.5814G>T (p.Glu1938Asp)
c.5811G>T (p.Glu1937Asp)
c.5763G>T (p.Glu1921Asp)
c.5727G>T (p.Glu1909Asp)
c.5724G>T (p.Glu1908Asp)
c.5679G>T (p.Glu1893Asp)
n.6344G>T
Xg.77593761C>GCA413702929ATRXc.6045G>C (p.Glu2015Asp)
c.1143G>C (p.Glu381Asp)
c.5931G>C (p.Glu1977Asp)
c.*5673G>C (n.*5673G>C)
c.529G>C
n.3115G>C
c.6042G>C (p.Glu2014Asp)
c.5958G>C (p.Glu1986Asp)
c.5928G>C (p.Glu1976Asp)
c.5880G>C (p.Glu1960Asp)
c.5841G>C (p.Glu1947Asp)
c.5766G>C (p.Glu1922Asp)
n.6387G>C
c.5955G>C (p.Glu1985Asp)
c.5925G>C (p.Glu1975Asp)
c.5877G>C (p.Glu1959Asp)
c.5844G>C (p.Glu1948Asp)
c.5814G>C (p.Glu1938Asp)
c.5811G>C (p.Glu1937Asp)
c.5763G>C (p.Glu1921Asp)
c.5727G>C (p.Glu1909Asp)
c.5724G>C (p.Glu1908Asp)
c.5679G>C (p.Glu1893Asp)
n.6344G>C
Xg.77593761C>TCA517375222ATRXc.6045G>A (p.Glu2015=)
c.1143G>A (p.Glu381=)
c.5931G>A (p.Glu1977=)
c.*5673G>A (n.*5673G>A)
c.529G>A
n.3115G>A
c.6042G>A (p.Glu2014=)
c.5958G>A (p.Glu1986=)
c.5928G>A (p.Glu1976=)
c.5880G>A (p.Glu1960=)
c.5841G>A (p.Glu1947=)
c.5766G>A (p.Glu1922=)
n.6387G>A
c.5955G>A (p.Glu1985=)
c.5925G>A (p.Glu1975=)
c.5877G>A (p.Glu1959=)
c.5844G>A (p.Glu1948=)
c.5814G>A (p.Glu1938=)
c.5811G>A (p.Glu1937=)
c.5763G>A (p.Glu1921=)
c.5727G>A (p.Glu1909=)
c.5724G>A (p.Glu1908=)
c.5679G>A (p.Glu1893=)
n.6344G>A
 gnomAD v4
Xg.77593762T>ACA413702932ATRXc.6044A>T (p.Glu2015Val)
c.1142A>T (p.Glu381Val)
c.5930A>T (p.Glu1977Val)
c.*5672A>T (n.*5672A>T)
c.528A>T
n.3114A>T
c.6041A>T (p.Glu2014Val)
c.5957A>T (p.Glu1986Val)
c.5927A>T (p.Glu1976Val)
c.5879A>T (p.Glu1960Val)
c.5840A>T (p.Glu1947Val)
c.5765A>T (p.Glu1922Val)
n.6386A>T
c.5954A>T (p.Glu1985Val)
c.5924A>T (p.Glu1975Val)
c.5876A>T (p.Glu1959Val)
c.5843A>T (p.Glu1948Val)
c.5813A>T (p.Glu1938Val)
c.5810A>T (p.Glu1937Val)
c.5762A>T (p.Glu1921Val)
c.5726A>T (p.Glu1909Val)
c.5723A>T (p.Glu1908Val)
c.5678A>T (p.Glu1893Val)
n.6343A>T
Xg.77593762T>CCA413702934ATRXc.6044A>G (p.Glu2015Gly)
c.1142A>G (p.Glu381Gly)
c.5930A>G (p.Glu1977Gly)
c.*5672A>G (n.*5672A>G)
c.528A>G
n.3114A>G
c.6041A>G (p.Glu2014Gly)
c.5957A>G (p.Glu1986Gly)
c.5927A>G (p.Glu1976Gly)
c.5879A>G (p.Glu1960Gly)
c.5840A>G (p.Glu1947Gly)
c.5765A>G (p.Glu1922Gly)
n.6386A>G
c.5954A>G (p.Glu1985Gly)
c.5924A>G (p.Glu1975Gly)
c.5876A>G (p.Glu1959Gly)
c.5843A>G (p.Glu1948Gly)
c.5813A>G (p.Glu1938Gly)
c.5810A>G (p.Glu1937Gly)
c.5762A>G (p.Glu1921Gly)
c.5726A>G (p.Glu1909Gly)
c.5723A>G (p.Glu1908Gly)
c.5678A>G (p.Glu1893Gly)
n.6343A>G
Xg.77593762T>GCA413702940ATRXc.6044A>C (p.Glu2015Ala)
c.1142A>C (p.Glu381Ala)
c.5930A>C (p.Glu1977Ala)
c.*5672A>C (n.*5672A>C)
c.528A>C
n.3114A>C
c.6041A>C (p.Glu2014Ala)
c.5957A>C (p.Glu1986Ala)
c.5927A>C (p.Glu1976Ala)
c.5879A>C (p.Glu1960Ala)
c.5840A>C (p.Glu1947Ala)
c.5765A>C (p.Glu1922Ala)
n.6386A>C
c.5954A>C (p.Glu1985Ala)
c.5924A>C (p.Glu1975Ala)
c.5876A>C (p.Glu1959Ala)
c.5843A>C (p.Glu1948Ala)
c.5813A>C (p.Glu1938Ala)
c.5810A>C (p.Glu1937Ala)
c.5762A>C (p.Glu1921Ala)
c.5726A>C (p.Glu1909Ala)
c.5723A>C (p.Glu1908Ala)
c.5678A>C (p.Glu1893Ala)
n.6343A>C
Xg.77593763C>ACA413702942ATRXc.6043G>T (p.Glu2015Ter)
c.1141G>T (p.Glu381Ter)
c.5929G>T (p.Glu1977Ter)
c.*5671G>T (n.*5671G>T)
c.527G>T
n.3113G>T
c.6040G>T (p.Glu2014Ter)
c.5956G>T (p.Glu1986Ter)
c.5926G>T (p.Glu1976Ter)
c.5878G>T (p.Glu1960Ter)
c.5839G>T (p.Glu1947Ter)
c.5764G>T (p.Glu1922Ter)
n.6385G>T
c.5953G>T (p.Glu1985Ter)
c.5923G>T (p.Glu1975Ter)
c.5875G>T (p.Glu1959Ter)
c.5842G>T (p.Glu1948Ter)
c.5812G>T (p.Glu1938Ter)
c.5809G>T (p.Glu1937Ter)
c.5761G>T (p.Glu1921Ter)
c.5725G>T (p.Glu1909Ter)
c.5722G>T (p.Glu1908Ter)
c.5677G>T (p.Glu1893Ter)
n.6342G>T
Xg.77593763C>GCA413702943ATRXc.6043G>C (p.Glu2015Gln)
c.1141G>C (p.Glu381Gln)
c.5929G>C (p.Glu1977Gln)
c.*5671G>C (n.*5671G>C)
c.527G>C
n.3113G>C
c.6040G>C (p.Glu2014Gln)
c.5956G>C (p.Glu1986Gln)
c.5926G>C (p.Glu1976Gln)
c.5878G>C (p.Glu1960Gln)
c.5839G>C (p.Glu1947Gln)
c.5764G>C (p.Glu1922Gln)
n.6385G>C
c.5953G>C (p.Glu1985Gln)
c.5923G>C (p.Glu1975Gln)
c.5875G>C (p.Glu1959Gln)
c.5842G>C (p.Glu1948Gln)
c.5812G>C (p.Glu1938Gln)
c.5809G>C (p.Glu1937Gln)
c.5761G>C (p.Glu1921Gln)
c.5725G>C (p.Glu1909Gln)
c.5722G>C (p.Glu1908Gln)
c.5677G>C (p.Glu1893Gln)
n.6342G>C
Xg.77593763C>TCA413702941ATRXc.6043G>A (p.Glu2015Lys)
c.1141G>A (p.Glu381Lys)
c.5929G>A (p.Glu1977Lys)
c.*5671G>A (n.*5671G>A)
c.527G>A
n.3113G>A
c.6040G>A (p.Glu2014Lys)
c.5956G>A (p.Glu1986Lys)
c.5926G>A (p.Glu1976Lys)
c.5878G>A (p.Glu1960Lys)
c.5839G>A (p.Glu1947Lys)
c.5764G>A (p.Glu1922Lys)
n.6385G>A
c.5953G>A (p.Glu1985Lys)
c.5923G>A (p.Glu1975Lys)
c.5875G>A (p.Glu1959Lys)
c.5842G>A (p.Glu1948Lys)
c.5812G>A (p.Glu1938Lys)
c.5809G>A (p.Glu1937Lys)
c.5761G>A (p.Glu1921Lys)
c.5725G>A (p.Glu1909Lys)
c.5722G>A (p.Glu1908Lys)
c.5677G>A (p.Glu1893Lys)
n.6342G>A
Xg.77593764T>ACA413702944ATRXc.6042A>T (p.Leu2014Phe)
c.1140A>T (p.Leu380Phe)
c.5928A>T (p.Leu1976Phe)
c.*5670A>T (n.*5670A>T)
c.526A>T
n.3112A>T
c.6039A>T (p.Leu2013Phe)
c.5955A>T (p.Leu1985Phe)
c.5925A>T (p.Leu1975Phe)
c.5877A>T (p.Leu1959Phe)
c.5838A>T (p.Leu1946Phe)
c.5763A>T (p.Leu1921Phe)
n.6384A>T
c.5952A>T (p.Leu1984Phe)
c.5922A>T (p.Leu1974Phe)
c.5874A>T (p.Leu1958Phe)
c.5841A>T (p.Leu1947Phe)
c.5811A>T (p.Leu1937Phe)
c.5808A>T (p.Leu1936Phe)
c.5760A>T (p.Leu1920Phe)
c.5724A>T (p.Leu1908Phe)
c.5721A>T (p.Leu1907Phe)
c.5676A>T (p.Leu1892Phe)
n.6341A>T
Xg.77593764T>CCA517375223ATRXc.6042A>G (p.Leu2014=)
c.1140A>G (p.Leu380=)
c.5928A>G (p.Leu1976=)
c.*5670A>G (n.*5670A>G)
c.526A>G
n.3112A>G
c.6039A>G (p.Leu2013=)
c.5955A>G (p.Leu1985=)
c.5925A>G (p.Leu1975=)
c.5877A>G (p.Leu1959=)
c.5838A>G (p.Leu1946=)
c.5763A>G (p.Leu1921=)
n.6384A>G
c.5952A>G (p.Leu1984=)
c.5922A>G (p.Leu1974=)
c.5874A>G (p.Leu1958=)
c.5841A>G (p.Leu1947=)
c.5811A>G (p.Leu1937=)
c.5808A>G (p.Leu1936=)
c.5760A>G (p.Leu1920=)
c.5724A>G (p.Leu1908=)
c.5721A>G (p.Leu1907=)
c.5676A>G (p.Leu1892=)
n.6341A>G
Xg.77593764T>GCA413702945ATRXc.6042A>C (p.Leu2014Phe)
c.1140A>C (p.Leu380Phe)
c.5928A>C (p.Leu1976Phe)
c.*5670A>C (n.*5670A>C)
c.526A>C
n.3112A>C
c.6039A>C (p.Leu2013Phe)
c.5955A>C (p.Leu1985Phe)
c.5925A>C (p.Leu1975Phe)
c.5877A>C (p.Leu1959Phe)
c.5838A>C (p.Leu1946Phe)
c.5763A>C (p.Leu1921Phe)
n.6384A>C
c.5952A>C (p.Leu1984Phe)
c.5922A>C (p.Leu1974Phe)
c.5874A>C (p.Leu1958Phe)
c.5841A>C (p.Leu1947Phe)
c.5811A>C (p.Leu1937Phe)
c.5808A>C (p.Leu1936Phe)
c.5760A>C (p.Leu1920Phe)
c.5724A>C (p.Leu1908Phe)
c.5721A>C (p.Leu1907Phe)
c.5676A>C (p.Leu1892Phe)
n.6341A>C
Xg.77593765A>CCA413702946ATRXc.6041T>G (p.Leu2014Ter)
c.1139T>G (p.Leu380Ter)
c.5927T>G (p.Leu1976Ter)
c.*5669T>G (n.*5669T>G)
c.525T>G
n.3111T>G
c.6038T>G (p.Leu2013Ter)
c.5954T>G (p.Leu1985Ter)
c.5924T>G (p.Leu1975Ter)
c.5876T>G (p.Leu1959Ter)
c.5837T>G (p.Leu1946Ter)
c.5762T>G (p.Leu1921Ter)
n.6383T>G
c.5951T>G (p.Leu1984Ter)
c.5921T>G (p.Leu1974Ter)
c.5873T>G (p.Leu1958Ter)
c.5840T>G (p.Leu1947Ter)
c.5810T>G (p.Leu1937Ter)
c.5807T>G (p.Leu1936Ter)
c.5759T>G (p.Leu1920Ter)
c.5723T>G (p.Leu1908Ter)
c.5720T>G (p.Leu1907Ter)
c.5675T>G (p.Leu1892Ter)
n.6340T>G
Xg.77593765A>GCA413702947ATRXc.6041T>C (p.Leu2014Ser)
c.1139T>C (p.Leu380Ser)
c.5927T>C (p.Leu1976Ser)
c.*5669T>C (n.*5669T>C)
c.525T>C
n.3111T>C
c.6038T>C (p.Leu2013Ser)
c.5954T>C (p.Leu1985Ser)
c.5924T>C (p.Leu1975Ser)
c.5876T>C (p.Leu1959Ser)
c.5837T>C (p.Leu1946Ser)
c.5762T>C (p.Leu1921Ser)
n.6383T>C
c.5951T>C (p.Leu1984Ser)
c.5921T>C (p.Leu1974Ser)
c.5873T>C (p.Leu1958Ser)
c.5840T>C (p.Leu1947Ser)
c.5810T>C (p.Leu1937Ser)
c.5807T>C (p.Leu1936Ser)
c.5759T>C (p.Leu1920Ser)
c.5723T>C (p.Leu1908Ser)
c.5720T>C (p.Leu1907Ser)
c.5675T>C (p.Leu1892Ser)
n.6340T>C
Xg.77593765A>TCA413702948ATRXc.6041T>A (p.Leu2014Ter)
c.1139T>A (p.Leu380Ter)
c.5927T>A (p.Leu1976Ter)
c.*5669T>A (n.*5669T>A)
c.525T>A
n.3111T>A
c.6038T>A (p.Leu2013Ter)
c.5954T>A (p.Leu1985Ter)
c.5924T>A (p.Leu1975Ter)
c.5876T>A (p.Leu1959Ter)
c.5837T>A (p.Leu1946Ter)
c.5762T>A (p.Leu1921Ter)
n.6383T>A
c.5951T>A (p.Leu1984Ter)
c.5921T>A (p.Leu1974Ter)
c.5873T>A (p.Leu1958Ter)
c.5840T>A (p.Leu1947Ter)
c.5810T>A (p.Leu1937Ter)
c.5807T>A (p.Leu1936Ter)
c.5759T>A (p.Leu1920Ter)
c.5723T>A (p.Leu1908Ter)
c.5720T>A (p.Leu1907Ter)
c.5675T>A (p.Leu1892Ter)
n.6340T>A
Xg.77593766A>CCA413702950ATRXc.6040T>G (p.Leu2014Val)
c.1138T>G (p.Leu380Val)
c.5926T>G (p.Leu1976Val)
c.*5668T>G (n.*5668T>G)
c.524T>G
n.3110T>G
c.6037T>G (p.Leu2013Val)
c.5953T>G (p.Leu1985Val)
c.5923T>G (p.Leu1975Val)
c.5875T>G (p.Leu1959Val)
c.5836T>G (p.Leu1946Val)
c.5761T>G (p.Leu1921Val)
n.6382T>G
c.5950T>G (p.Leu1984Val)
c.5920T>G (p.Leu1974Val)
c.5872T>G (p.Leu1958Val)
c.5839T>G (p.Leu1947Val)
c.5809T>G (p.Leu1937Val)
c.5806T>G (p.Leu1936Val)
c.5758T>G (p.Leu1920Val)
c.5722T>G (p.Leu1908Val)
c.5719T>G (p.Leu1907Val)
c.5674T>G (p.Leu1892Val)
n.6339T>G
Xg.77593766A>GCA517375224ATRXc.6040T>C (p.Leu2014=)
c.1138T>C (p.Leu380=)
c.5926T>C (p.Leu1976=)
c.*5668T>C (n.*5668T>C)
c.524T>C
n.3110T>C
c.6037T>C (p.Leu2013=)
c.5953T>C (p.Leu1985=)
c.5923T>C (p.Leu1975=)
c.5875T>C (p.Leu1959=)
c.5836T>C (p.Leu1946=)
c.5761T>C (p.Leu1921=)
n.6382T>C
c.5950T>C (p.Leu1984=)
c.5920T>C (p.Leu1974=)
c.5872T>C (p.Leu1958=)
c.5839T>C (p.Leu1947=)
c.5809T>C (p.Leu1937=)
c.5806T>C (p.Leu1936=)
c.5758T>C (p.Leu1920=)
c.5722T>C (p.Leu1908=)
c.5719T>C (p.Leu1907=)
c.5674T>C (p.Leu1892=)
n.6339T>C
Xg.77593766A>TCA413702952ATRXc.6040T>A (p.Leu2014Ile)
c.1138T>A (p.Leu380Ile)
c.5926T>A (p.Leu1976Ile)
c.*5668T>A (n.*5668T>A)
c.524T>A
n.3110T>A
c.6037T>A (p.Leu2013Ile)
c.5953T>A (p.Leu1985Ile)
c.5923T>A (p.Leu1975Ile)
c.5875T>A (p.Leu1959Ile)
c.5836T>A (p.Leu1946Ile)
c.5761T>A (p.Leu1921Ile)
n.6382T>A
c.5950T>A (p.Leu1984Ile)
c.5920T>A (p.Leu1974Ile)
c.5872T>A (p.Leu1958Ile)
c.5839T>A (p.Leu1947Ile)
c.5809T>A (p.Leu1937Ile)
c.5806T>A (p.Leu1936Ile)
c.5758T>A (p.Leu1920Ile)
c.5722T>A (p.Leu1908Ile)
c.5719T>A (p.Leu1907Ile)
c.5674T>A (p.Leu1892Ile)
n.6339T>A
Xg.77593767A>CCA517375225ATRXc.6039T>G (p.Val2013=)
c.1137T>G (p.Val379=)
c.5925T>G (p.Val1975=)
c.*5667T>G (n.*5667T>G)
c.523T>G
n.3109T>G
c.6036T>G (p.Val2012=)
c.5952T>G (p.Val1984=)
c.5922T>G (p.Val1974=)
c.5874T>G (p.Val1958=)
c.5835T>G (p.Val1945=)
c.5760T>G (p.Val1920=)
n.6381T>G
c.5949T>G (p.Val1983=)
c.5919T>G (p.Val1973=)
c.5871T>G (p.Val1957=)
c.5838T>G (p.Val1946=)
c.5808T>G (p.Val1936=)
c.5805T>G (p.Val1935=)
c.5757T>G (p.Val1919=)
c.5721T>G (p.Val1907=)
c.5718T>G (p.Val1906=)
c.5673T>G (p.Val1891=)
n.6338T>G
Xg.77593767A>GCA517375226ATRXc.6039T>C (p.Val2013=)
c.1137T>C (p.Val379=)
c.5925T>C (p.Val1975=)
c.*5667T>C (n.*5667T>C)
c.523T>C
n.3109T>C
c.6036T>C (p.Val2012=)
c.5952T>C (p.Val1984=)
c.5922T>C (p.Val1974=)
c.5874T>C (p.Val1958=)
c.5835T>C (p.Val1945=)
c.5760T>C (p.Val1920=)
n.6381T>C
c.5949T>C (p.Val1983=)
c.5919T>C (p.Val1973=)
c.5871T>C (p.Val1957=)
c.5838T>C (p.Val1946=)
c.5808T>C (p.Val1936=)
c.5805T>C (p.Val1935=)
c.5757T>C (p.Val1919=)
c.5721T>C (p.Val1907=)
c.5718T>C (p.Val1906=)
c.5673T>C (p.Val1891=)
n.6338T>C
Xg.77593767A>TCA517375227ATRXc.6039T>A (p.Val2013=)
c.1137T>A (p.Val379=)
c.5925T>A (p.Val1975=)
c.*5667T>A (n.*5667T>A)
c.523T>A
n.3109T>A
c.6036T>A (p.Val2012=)
c.5952T>A (p.Val1984=)
c.5922T>A (p.Val1974=)
c.5874T>A (p.Val1958=)
c.5835T>A (p.Val1945=)
c.5760T>A (p.Val1920=)
n.6381T>A
c.5949T>A (p.Val1983=)
c.5919T>A (p.Val1973=)
c.5871T>A (p.Val1957=)
c.5838T>A (p.Val1946=)
c.5808T>A (p.Val1936=)
c.5805T>A (p.Val1935=)
c.5757T>A (p.Val1919=)
c.5721T>A (p.Val1907=)
c.5718T>A (p.Val1906=)
c.5673T>A (p.Val1891=)
n.6338T>A
Xg.77593768A>CCA413702954ATRXc.6038T>G (p.Val2013Gly)
c.1136T>G (p.Val379Gly)
c.5924T>G (p.Val1975Gly)
c.*5666T>G (n.*5666T>G)
c.522T>G
n.3108T>G
c.6035T>G (p.Val2012Gly)
c.5951T>G (p.Val1984Gly)
c.5921T>G (p.Val1974Gly)
c.5873T>G (p.Val1958Gly)
c.5834T>G (p.Val1945Gly)
c.5759T>G (p.Val1920Gly)
n.6380T>G
c.5948T>G (p.Val1983Gly)
c.5918T>G (p.Val1973Gly)
c.5870T>G (p.Val1957Gly)
c.5837T>G (p.Val1946Gly)
c.5807T>G (p.Val1936Gly)
c.5804T>G (p.Val1935Gly)
c.5756T>G (p.Val1919Gly)
c.5720T>G (p.Val1907Gly)
c.5717T>G (p.Val1906Gly)
c.5672T>G (p.Val1891Gly)
n.6337T>G
Xg.77593768A>GCA413702956ATRXc.6038T>C (p.Val2013Ala)
c.1136T>C (p.Val379Ala)
c.5924T>C (p.Val1975Ala)
c.*5666T>C (n.*5666T>C)
c.522T>C
n.3108T>C
c.6035T>C (p.Val2012Ala)
c.5951T>C (p.Val1984Ala)
c.5921T>C (p.Val1974Ala)
c.5873T>C (p.Val1958Ala)
c.5834T>C (p.Val1945Ala)
c.5759T>C (p.Val1920Ala)
n.6380T>C
c.5948T>C (p.Val1983Ala)
c.5918T>C (p.Val1973Ala)
c.5870T>C (p.Val1957Ala)
c.5837T>C (p.Val1946Ala)
c.5807T>C (p.Val1936Ala)
c.5804T>C (p.Val1935Ala)
c.5756T>C (p.Val1919Ala)
c.5720T>C (p.Val1907Ala)
c.5717T>C (p.Val1906Ala)
c.5672T>C (p.Val1891Ala)
n.6337T>C
Xg.77593768A>TCA413702959ATRXc.6038T>A (p.Val2013Asp)
c.1136T>A (p.Val379Asp)
c.5924T>A (p.Val1975Asp)
c.*5666T>A (n.*5666T>A)
c.522T>A
n.3108T>A
c.6035T>A (p.Val2012Asp)
c.5951T>A (p.Val1984Asp)
c.5921T>A (p.Val1974Asp)
c.5873T>A (p.Val1958Asp)
c.5834T>A (p.Val1945Asp)
c.5759T>A (p.Val1920Asp)
n.6380T>A
c.5948T>A (p.Val1983Asp)
c.5918T>A (p.Val1973Asp)
c.5870T>A (p.Val1957Asp)
c.5837T>A (p.Val1946Asp)
c.5807T>A (p.Val1936Asp)
c.5804T>A (p.Val1935Asp)
c.5756T>A (p.Val1919Asp)
c.5720T>A (p.Val1907Asp)
c.5717T>A (p.Val1906Asp)
c.5672T>A (p.Val1891Asp)
n.6337T>A
 gnomAD v4
Xg.77593769C>ACA413702962ATRXc.6037G>T (p.Val2013Phe)
c.1135G>T (p.Val379Phe)
c.5923G>T (p.Val1975Phe)
c.*5665G>T (n.*5665G>T)
c.521G>T
n.3107G>T
c.6034G>T (p.Val2012Phe)
c.5950G>T (p.Val1984Phe)
c.5920G>T (p.Val1974Phe)
c.5872G>T (p.Val1958Phe)
c.5833G>T (p.Val1945Phe)
c.5758G>T (p.Val1920Phe)
n.6379G>T
c.5947G>T (p.Val1983Phe)
c.5917G>T (p.Val1973Phe)
c.5869G>T (p.Val1957Phe)
c.5836G>T (p.Val1946Phe)
c.5806G>T (p.Val1936Phe)
c.5803G>T (p.Val1935Phe)
c.5755G>T (p.Val1919Phe)
c.5719G>T (p.Val1907Phe)
c.5716G>T (p.Val1906Phe)
c.5671G>T (p.Val1891Phe)
n.6336G>T
Xg.77593769C>GCA413702964ATRXc.6037G>C (p.Val2013Leu)
c.1135G>C (p.Val379Leu)
c.5923G>C (p.Val1975Leu)
c.*5665G>C (n.*5665G>C)
c.521G>C
n.3107G>C
c.6034G>C (p.Val2012Leu)
c.5950G>C (p.Val1984Leu)
c.5920G>C (p.Val1974Leu)
c.5872G>C (p.Val1958Leu)
c.5833G>C (p.Val1945Leu)
c.5758G>C (p.Val1920Leu)
n.6379G>C
c.5947G>C (p.Val1983Leu)
c.5917G>C (p.Val1973Leu)
c.5869G>C (p.Val1957Leu)
c.5836G>C (p.Val1946Leu)
c.5806G>C (p.Val1936Leu)
c.5803G>C (p.Val1935Leu)
c.5755G>C (p.Val1919Leu)
c.5719G>C (p.Val1907Leu)
c.5716G>C (p.Val1906Leu)
c.5671G>C (p.Val1891Leu)
n.6336G>C
Xg.77593769C>TCA413702966ATRXc.6037G>A (p.Val2013Ile)
c.1135G>A (p.Val379Ile)
c.5923G>A (p.Val1975Ile)
c.*5665G>A (n.*5665G>A)
c.521G>A
n.3107G>A
c.6034G>A (p.Val2012Ile)
c.5950G>A (p.Val1984Ile)
c.5920G>A (p.Val1974Ile)
c.5872G>A (p.Val1958Ile)
c.5833G>A (p.Val1945Ile)
c.5758G>A (p.Val1920Ile)
n.6379G>A
c.5947G>A (p.Val1983Ile)
c.5917G>A (p.Val1973Ile)
c.5869G>A (p.Val1957Ile)
c.5836G>A (p.Val1946Ile)
c.5806G>A (p.Val1936Ile)
c.5803G>A (p.Val1935Ile)
c.5755G>A (p.Val1919Ile)
c.5719G>A (p.Val1907Ile)
c.5716G>A (p.Val1906Ile)
c.5671G>A (p.Val1891Ile)
n.6336G>A
 dbSNP
Xg.77593770C>ACA413702971ATRXc.6036G>T (p.Glu2012Asp)
c.1134G>T (p.Glu378Asp)
c.5922G>T (p.Glu1974Asp)
c.*5664G>T (n.*5664G>T)
c.520G>T
n.3106G>T
c.6033G>T (p.Glu2011Asp)
c.5949G>T (p.Glu1983Asp)
c.5919G>T (p.Glu1973Asp)
c.5871G>T (p.Glu1957Asp)
c.5832G>T (p.Glu1944Asp)
c.5757G>T (p.Glu1919Asp)
n.6378G>T
c.5946G>T (p.Glu1982Asp)
c.5916G>T (p.Glu1972Asp)
c.5868G>T (p.Glu1956Asp)
c.5835G>T (p.Glu1945Asp)
c.5805G>T (p.Glu1935Asp)
c.5802G>T (p.Glu1934Asp)
c.5754G>T (p.Glu1918Asp)
c.5718G>T (p.Glu1906Asp)
c.5715G>T (p.Glu1905Asp)
c.5670G>T (p.Glu1890Asp)
n.6335G>T
Xg.77593770C=CA2438957778ATRXc.6036G= (p.Glu2012=)
c.1134G= (p.Glu378=)
c.5922G= (p.Glu1974=)
c.*5664G= (n.*5664G=)
c.520G=
n.3106G=
c.6033G= (p.Glu2011=)
c.5949G= (p.Glu1983=)
c.5919G= (p.Glu1973=)
c.5871G= (p.Glu1957=)
c.5832G= (p.Glu1944=)
c.5757G= (p.Glu1919=)
n.6378G=
c.5946G= (p.Glu1982=)
c.5916G= (p.Glu1972=)
c.5868G= (p.Glu1956=)
c.5835G= (p.Glu1945=)
c.5805G= (p.Glu1935=)
c.5802G= (p.Glu1934=)
c.5754G= (p.Glu1918=)
c.5718G= (p.Glu1906=)
c.5715G= (p.Glu1905=)
c.5670G= (p.Glu1890=)
n.6335G=
Xg.77593770C>GCA413702970ATRXc.6036G>C (p.Glu2012Asp)
c.1134G>C (p.Glu378Asp)
c.5922G>C (p.Glu1974Asp)
c.*5664G>C (n.*5664G>C)
c.520G>C
n.3106G>C
c.6033G>C (p.Glu2011Asp)
c.5949G>C (p.Glu1983Asp)
c.5919G>C (p.Glu1973Asp)
c.5871G>C (p.Glu1957Asp)
c.5832G>C (p.Glu1944Asp)
c.5757G>C (p.Glu1919Asp)
n.6378G>C
c.5946G>C (p.Glu1982Asp)
c.5916G>C (p.Glu1972Asp)
c.5868G>C (p.Glu1956Asp)
c.5835G>C (p.Glu1945Asp)
c.5805G>C (p.Glu1935Asp)
c.5802G>C (p.Glu1934Asp)
c.5754G>C (p.Glu1918Asp)
c.5718G>C (p.Glu1906Asp)
c.5715G>C (p.Glu1905Asp)
c.5670G>C (p.Glu1890Asp)
n.6335G>C
Xg.77593770C>TCA10457567ATRXc.6036G>A (p.Glu2012=)
c.1134G>A (p.Glu378=)
c.5922G>A (p.Glu1974=)
c.*5664G>A (n.*5664G>A)
c.520G>A
n.3106G>A
c.6033G>A (p.Glu2011=)
c.5949G>A (p.Glu1983=)
c.5919G>A (p.Glu1973=)
c.5871G>A (p.Glu1957=)
c.5832G>A (p.Glu1944=)
c.5757G>A (p.Glu1919=)
n.6378G>A
c.5946G>A (p.Glu1982=)
c.5916G>A (p.Glu1972=)
c.5868G>A (p.Glu1956=)
c.5835G>A (p.Glu1945=)
c.5805G>A (p.Glu1935=)
c.5802G>A (p.Glu1934=)
c.5754G>A (p.Glu1918=)
c.5718G>A (p.Glu1906=)
c.5715G>A (p.Glu1905=)
c.5670G>A (p.Glu1890=)
n.6335G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77593771T>ACA413702972ATRXc.6035A>T (p.Glu2012Val)
c.1133A>T (p.Glu378Val)
c.5921A>T (p.Glu1974Val)
c.*5663A>T (n.*5663A>T)
c.519A>T
n.3105A>T
c.6032A>T (p.Glu2011Val)
c.5948A>T (p.Glu1983Val)
c.5918A>T (p.Glu1973Val)
c.5870A>T (p.Glu1957Val)
c.5831A>T (p.Glu1944Val)
c.5756A>T (p.Glu1919Val)
n.6377A>T
c.5945A>T (p.Glu1982Val)
c.5915A>T (p.Glu1972Val)
c.5867A>T (p.Glu1956Val)
c.5834A>T (p.Glu1945Val)
c.5804A>T (p.Glu1935Val)
c.5801A>T (p.Glu1934Val)
c.5753A>T (p.Glu1918Val)
c.5717A>T (p.Glu1906Val)
c.5714A>T (p.Glu1905Val)
c.5669A>T (p.Glu1890Val)
n.6334A>T
Xg.77593771T>CCA413702974ATRXc.6035A>G (p.Glu2012Gly)
c.1133A>G (p.Glu378Gly)
c.5921A>G (p.Glu1974Gly)
c.*5663A>G (n.*5663A>G)
c.519A>G
n.3105A>G
c.6032A>G (p.Glu2011Gly)
c.5948A>G (p.Glu1983Gly)
c.5918A>G (p.Glu1973Gly)
c.5870A>G (p.Glu1957Gly)
c.5831A>G (p.Glu1944Gly)
c.5756A>G (p.Glu1919Gly)
n.6377A>G
c.5945A>G (p.Glu1982Gly)
c.5915A>G (p.Glu1972Gly)
c.5867A>G (p.Glu1956Gly)
c.5834A>G (p.Glu1945Gly)
c.5804A>G (p.Glu1935Gly)
c.5801A>G (p.Glu1934Gly)
c.5753A>G (p.Glu1918Gly)
c.5717A>G (p.Glu1906Gly)
c.5714A>G (p.Glu1905Gly)
c.5669A>G (p.Glu1890Gly)
n.6334A>G
Xg.77593771T>GCA413702976ATRXc.6035A>C (p.Glu2012Ala)
c.1133A>C (p.Glu378Ala)
c.5921A>C (p.Glu1974Ala)
c.*5663A>C (n.*5663A>C)
c.519A>C
n.3105A>C
c.6032A>C (p.Glu2011Ala)
c.5948A>C (p.Glu1983Ala)
c.5918A>C (p.Glu1973Ala)
c.5870A>C (p.Glu1957Ala)
c.5831A>C (p.Glu1944Ala)
c.5756A>C (p.Glu1919Ala)
n.6377A>C
c.5945A>C (p.Glu1982Ala)
c.5915A>C (p.Glu1972Ala)
c.5867A>C (p.Glu1956Ala)
c.5834A>C (p.Glu1945Ala)
c.5804A>C (p.Glu1935Ala)
c.5801A>C (p.Glu1934Ala)
c.5753A>C (p.Glu1918Ala)
c.5717A>C (p.Glu1906Ala)
c.5714A>C (p.Glu1905Ala)
c.5669A>C (p.Glu1890Ala)
n.6334A>C
Xg.77593779_77593784delCA2738744711ATRXc.6030_6035del (p.Asp2010_Ala2011del)
c.1128_1133del (p.Asp376_Ala377del)
c.5916_5921del (p.Asp1972_Ala1973del)
c.*5658_*5663del (n.*5658_*5663del)
c.514_519del
n.3100_3105del
c.6027_6032del (p.Asp2009_Ala2010del)
c.5943_5948del (p.Asp1981_Ala1982del)
c.5913_5918del (p.Asp1971_Ala1972del)
c.5865_5870del (p.Asp1955_Ala1956del)
c.5826_5831del (p.Asp1942_Ala1943del)
c.5751_5756del (p.Asp1917_Ala1918del)
n.6372_6377del
c.5940_5945del (p.Asp1980_Ala1981del)
c.5910_5915del (p.Asp1970_Ala1971del)
c.5862_5867del (p.Asp1954_Ala1955del)
c.5829_5834del (p.Asp1943_Ala1944del)
c.5799_5804del (p.Asp1933_Ala1934del)
c.5796_5801del (p.Asp1932_Ala1933del)
c.5748_5753del (p.Asp1916_Ala1917del)
c.5712_5717del (p.Asp1904_Ala1905del)
c.5709_5714del (p.Asp1903_Ala1904del)
c.5664_5669del (p.Asp1888_Ala1889del)
n.6329_6334del
 dbSNP
Xg.77593772C>ACA413702978ATRXc.6034G>T (p.Glu2012Ter)
c.1132G>T (p.Glu378Ter)
c.5920G>T (p.Glu1974Ter)
c.*5662G>T (n.*5662G>T)
c.518G>T
n.3104G>T
c.6031G>T (p.Glu2011Ter)
c.5947G>T (p.Glu1983Ter)
c.5917G>T (p.Glu1973Ter)
c.5869G>T (p.Glu1957Ter)
c.5830G>T (p.Glu1944Ter)
c.5755G>T (p.Glu1919Ter)
n.6376G>T
c.5944G>T (p.Glu1982Ter)
c.5914G>T (p.Glu1972Ter)
c.5866G>T (p.Glu1956Ter)
c.5833G>T (p.Glu1945Ter)
c.5803G>T (p.Glu1935Ter)
c.5800G>T (p.Glu1934Ter)
c.5752G>T (p.Glu1918Ter)
c.5716G>T (p.Glu1906Ter)
c.5713G>T (p.Glu1905Ter)
c.5668G>T (p.Glu1890Ter)
n.6333G>T
Xg.77593772C>GCA413702980ATRXc.6034G>C (p.Glu2012Gln)
c.1132G>C (p.Glu378Gln)
c.5920G>C (p.Glu1974Gln)
c.*5662G>C (n.*5662G>C)
c.518G>C
n.3104G>C
c.6031G>C (p.Glu2011Gln)
c.5947G>C (p.Glu1983Gln)
c.5917G>C (p.Glu1973Gln)
c.5869G>C (p.Glu1957Gln)
c.5830G>C (p.Glu1944Gln)
c.5755G>C (p.Glu1919Gln)
n.6376G>C
c.5944G>C (p.Glu1982Gln)
c.5914G>C (p.Glu1972Gln)
c.5866G>C (p.Glu1956Gln)
c.5833G>C (p.Glu1945Gln)
c.5803G>C (p.Glu1935Gln)
c.5800G>C (p.Glu1934Gln)
c.5752G>C (p.Glu1918Gln)
c.5716G>C (p.Glu1906Gln)
c.5713G>C (p.Glu1905Gln)
c.5668G>C (p.Glu1890Gln)
n.6333G>C
Xg.77593772C>TCA413702982ATRXc.6034G>A (p.Glu2012Lys)
c.1132G>A (p.Glu378Lys)
c.5920G>A (p.Glu1974Lys)
c.*5662G>A (n.*5662G>A)
c.518G>A
n.3104G>A
c.6031G>A (p.Glu2011Lys)
c.5947G>A (p.Glu1983Lys)
c.5917G>A (p.Glu1973Lys)
c.5869G>A (p.Glu1957Lys)
c.5830G>A (p.Glu1944Lys)
c.5755G>A (p.Glu1919Lys)
n.6376G>A
c.5944G>A (p.Glu1982Lys)
c.5914G>A (p.Glu1972Lys)
c.5866G>A (p.Glu1956Lys)
c.5833G>A (p.Glu1945Lys)
c.5803G>A (p.Glu1935Lys)
c.5800G>A (p.Glu1934Lys)
c.5752G>A (p.Glu1918Lys)
c.5716G>A (p.Glu1906Lys)
c.5713G>A (p.Glu1905Lys)
c.5668G>A (p.Glu1890Lys)
n.6333G>A
Xg.77593773A>CCA517375228ATRXc.6033T>G (p.Ala2011=)
c.1131T>G (p.Ala377=)
c.5919T>G (p.Ala1973=)
c.*5661T>G (n.*5661T>G)
c.517T>G
n.3103T>G
c.6030T>G (p.Ala2010=)
c.5946T>G (p.Ala1982=)
c.5916T>G (p.Ala1972=)
c.5868T>G (p.Ala1956=)
c.5829T>G (p.Ala1943=)
c.5754T>G (p.Ala1918=)
n.6375T>G
c.5943T>G (p.Ala1981=)
c.5913T>G (p.Ala1971=)
c.5865T>G (p.Ala1955=)
c.5832T>G (p.Ala1944=)
c.5802T>G (p.Ala1934=)
c.5799T>G (p.Ala1933=)
c.5751T>G (p.Ala1917=)
c.5715T>G (p.Ala1905=)
c.5712T>G (p.Ala1904=)
c.5667T>G (p.Ala1889=)
n.6332T>G
Xg.77593773A>GCA517375229ATRXc.6033T>C (p.Ala2011=)
c.1131T>C (p.Ala377=)
c.5919T>C (p.Ala1973=)
c.*5661T>C (n.*5661T>C)
c.517T>C
n.3103T>C
c.6030T>C (p.Ala2010=)
c.5946T>C (p.Ala1982=)
c.5916T>C (p.Ala1972=)
c.5868T>C (p.Ala1956=)
c.5829T>C (p.Ala1943=)
c.5754T>C (p.Ala1918=)
n.6375T>C
c.5943T>C (p.Ala1981=)
c.5913T>C (p.Ala1971=)
c.5865T>C (p.Ala1955=)
c.5832T>C (p.Ala1944=)
c.5802T>C (p.Ala1934=)
c.5799T>C (p.Ala1933=)
c.5751T>C (p.Ala1917=)
c.5715T>C (p.Ala1905=)
c.5712T>C (p.Ala1904=)
c.5667T>C (p.Ala1889=)
n.6332T>C
Xg.77593773A>TCA517375230ATRXc.6033T>A (p.Ala2011=)
c.1131T>A (p.Ala377=)
c.5919T>A (p.Ala1973=)
c.*5661T>A (n.*5661T>A)
c.517T>A
n.3103T>A
c.6030T>A (p.Ala2010=)
c.5946T>A (p.Ala1982=)
c.5916T>A (p.Ala1972=)
c.5868T>A (p.Ala1956=)
c.5829T>A (p.Ala1943=)
c.5754T>A (p.Ala1918=)
n.6375T>A
c.5943T>A (p.Ala1981=)
c.5913T>A (p.Ala1971=)
c.5865T>A (p.Ala1955=)
c.5832T>A (p.Ala1944=)
c.5802T>A (p.Ala1934=)
c.5799T>A (p.Ala1933=)
c.5751T>A (p.Ala1917=)
c.5715T>A (p.Ala1905=)
c.5712T>A (p.Ala1904=)
c.5667T>A (p.Ala1889=)
n.6332T>A
Xg.77593774G>ACA413702986ATRXc.6032C>T (p.Ala2011Val)
c.1130C>T (p.Ala377Val)
c.5918C>T (p.Ala1973Val)
c.*5660C>T (n.*5660C>T)
c.516C>T
n.3102C>T
c.6029C>T (p.Ala2010Val)
c.5945C>T (p.Ala1982Val)
c.5915C>T (p.Ala1972Val)
c.5867C>T (p.Ala1956Val)
c.5828C>T (p.Ala1943Val)
c.5753C>T (p.Ala1918Val)
n.6374C>T
c.5942C>T (p.Ala1981Val)
c.5912C>T (p.Ala1971Val)
c.5864C>T (p.Ala1955Val)
c.5831C>T (p.Ala1944Val)
c.5801C>T (p.Ala1934Val)
c.5798C>T (p.Ala1933Val)
c.5750C>T (p.Ala1917Val)
c.5714C>T (p.Ala1905Val)
c.5711C>T (p.Ala1904Val)
c.5666C>T (p.Ala1889Val)
n.6331C>T
Xg.77593774G>CCA413702989ATRXc.6032C>G (p.Ala2011Gly)
c.1130C>G (p.Ala377Gly)
c.5918C>G (p.Ala1973Gly)
c.*5660C>G (n.*5660C>G)
c.516C>G
n.3102C>G
c.6029C>G (p.Ala2010Gly)
c.5945C>G (p.Ala1982Gly)
c.5915C>G (p.Ala1972Gly)
c.5867C>G (p.Ala1956Gly)
c.5828C>G (p.Ala1943Gly)
c.5753C>G (p.Ala1918Gly)
n.6374C>G
c.5942C>G (p.Ala1981Gly)
c.5912C>G (p.Ala1971Gly)
c.5864C>G (p.Ala1955Gly)
c.5831C>G (p.Ala1944Gly)
c.5801C>G (p.Ala1934Gly)
c.5798C>G (p.Ala1933Gly)
c.5750C>G (p.Ala1917Gly)
c.5714C>G (p.Ala1905Gly)
c.5711C>G (p.Ala1904Gly)
c.5666C>G (p.Ala1889Gly)
n.6331C>G
Xg.77593774G>TCA413702990ATRXc.6032C>A (p.Ala2011Asp)
c.1130C>A (p.Ala377Asp)
c.5918C>A (p.Ala1973Asp)
c.*5660C>A (n.*5660C>A)
c.516C>A
n.3102C>A
c.6029C>A (p.Ala2010Asp)
c.5945C>A (p.Ala1982Asp)
c.5915C>A (p.Ala1972Asp)
c.5867C>A (p.Ala1956Asp)
c.5828C>A (p.Ala1943Asp)
c.5753C>A (p.Ala1918Asp)
n.6374C>A
c.5942C>A (p.Ala1981Asp)
c.5912C>A (p.Ala1971Asp)
c.5864C>A (p.Ala1955Asp)
c.5831C>A (p.Ala1944Asp)
c.5801C>A (p.Ala1934Asp)
c.5798C>A (p.Ala1933Asp)
c.5750C>A (p.Ala1917Asp)
c.5714C>A (p.Ala1905Asp)
c.5711C>A (p.Ala1904Asp)
c.5666C>A (p.Ala1889Asp)
n.6331C>A
Xg.77593775C>ACA10457568ATRXc.6031G>T (p.Ala2011Ser)
c.1129G>T (p.Ala377Ser)
c.5917G>T (p.Ala1973Ser)
c.*5659G>T (n.*5659G>T)
c.515G>T
n.3101G>T
c.6028G>T (p.Ala2010Ser)
c.5944G>T (p.Ala1982Ser)
c.5914G>T (p.Ala1972Ser)
c.5866G>T (p.Ala1956Ser)
c.5827G>T (p.Ala1943Ser)
c.5752G>T (p.Ala1918Ser)
n.6373G>T
c.5941G>T (p.Ala1981Ser)
c.5911G>T (p.Ala1971Ser)
c.5863G>T (p.Ala1955Ser)
c.5830G>T (p.Ala1944Ser)
c.5800G>T (p.Ala1934Ser)
c.5797G>T (p.Ala1933Ser)
c.5749G>T (p.Ala1917Ser)
c.5713G>T (p.Ala1905Ser)
c.5710G>T (p.Ala1904Ser)
c.5665G>T (p.Ala1889Ser)
n.6330G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77593775C=CA2438957779ATRXc.6031G= (p.Ala2011=)
c.1129G= (p.Ala377=)
c.5917G= (p.Ala1973=)
c.*5659G= (n.*5659G=)
c.515G=
n.3101G=
c.6028G= (p.Ala2010=)
c.5944G= (p.Ala1982=)
c.5914G= (p.Ala1972=)
c.5866G= (p.Ala1956=)
c.5827G= (p.Ala1943=)
c.5752G= (p.Ala1918=)
n.6373G=
c.5941G= (p.Ala1981=)
c.5911G= (p.Ala1971=)
c.5863G= (p.Ala1955=)
c.5830G= (p.Ala1944=)
c.5800G= (p.Ala1934=)
c.5797G= (p.Ala1933=)
c.5749G= (p.Ala1917=)
c.5713G= (p.Ala1905=)
c.5710G= (p.Ala1904=)
c.5665G= (p.Ala1889=)
n.6330G=
Xg.77593775C>GCA413702994ATRXc.6031G>C (p.Ala2011Pro)
c.1129G>C (p.Ala377Pro)
c.5917G>C (p.Ala1973Pro)
c.*5659G>C (n.*5659G>C)
c.515G>C
n.3101G>C
c.6028G>C (p.Ala2010Pro)
c.5944G>C (p.Ala1982Pro)
c.5914G>C (p.Ala1972Pro)
c.5866G>C (p.Ala1956Pro)
c.5827G>C (p.Ala1943Pro)
c.5752G>C (p.Ala1918Pro)
n.6373G>C
c.5941G>C (p.Ala1981Pro)
c.5911G>C (p.Ala1971Pro)
c.5863G>C (p.Ala1955Pro)
c.5830G>C (p.Ala1944Pro)
c.5800G>C (p.Ala1934Pro)
c.5797G>C (p.Ala1933Pro)
c.5749G>C (p.Ala1917Pro)
c.5713G>C (p.Ala1905Pro)
c.5710G>C (p.Ala1904Pro)
c.5665G>C (p.Ala1889Pro)
n.6330G>C
Xg.77593775C>TCA413702997ATRXc.6031G>A (p.Ala2011Thr)
c.1129G>A (p.Ala377Thr)
c.5917G>A (p.Ala1973Thr)
c.*5659G>A (n.*5659G>A)
c.515G>A
n.3101G>A
c.6028G>A (p.Ala2010Thr)
c.5944G>A (p.Ala1982Thr)
c.5914G>A (p.Ala1972Thr)
c.5866G>A (p.Ala1956Thr)
c.5827G>A (p.Ala1943Thr)
c.5752G>A (p.Ala1918Thr)
n.6373G>A
c.5941G>A (p.Ala1981Thr)
c.5911G>A (p.Ala1971Thr)
c.5863G>A (p.Ala1955Thr)
c.5830G>A (p.Ala1944Thr)
c.5800G>A (p.Ala1934Thr)
c.5797G>A (p.Ala1933Thr)
c.5749G>A (p.Ala1917Thr)
c.5713G>A (p.Ala1905Thr)
c.5710G>A (p.Ala1904Thr)
c.5665G>A (p.Ala1889Thr)
n.6330G>A
 COSMIC COSMIC
Xg.77593776A>CCA413703001ATRXc.6030T>G (p.Asp2010Glu)
c.1128T>G (p.Asp376Glu)
c.5916T>G (p.Asp1972Glu)
c.*5658T>G (n.*5658T>G)
c.514T>G
n.3100T>G
c.6027T>G (p.Asp2009Glu)
c.5943T>G (p.Asp1981Glu)
c.5913T>G (p.Asp1971Glu)
c.5865T>G (p.Asp1955Glu)
c.5826T>G (p.Asp1942Glu)
c.5751T>G (p.Asp1917Glu)
n.6372T>G
c.5940T>G (p.Asp1980Glu)
c.5910T>G (p.Asp1970Glu)
c.5862T>G (p.Asp1954Glu)
c.5829T>G (p.Asp1943Glu)
c.5799T>G (p.Asp1933Glu)
c.5796T>G (p.Asp1932Glu)
c.5748T>G (p.Asp1916Glu)
c.5712T>G (p.Asp1904Glu)
c.5709T>G (p.Asp1903Glu)
c.5664T>G (p.Asp1888Glu)
n.6329T>G
Xg.77593776A>GCA517375231ATRXc.6030T>C (p.Asp2010=)
c.1128T>C (p.Asp376=)
c.5916T>C (p.Asp1972=)
c.*5658T>C (n.*5658T>C)
c.514T>C
n.3100T>C
c.6027T>C (p.Asp2009=)
c.5943T>C (p.Asp1981=)
c.5913T>C (p.Asp1971=)
c.5865T>C (p.Asp1955=)
c.5826T>C (p.Asp1942=)
c.5751T>C (p.Asp1917=)
n.6372T>C
c.5940T>C (p.Asp1980=)
c.5910T>C (p.Asp1970=)
c.5862T>C (p.Asp1954=)
c.5829T>C (p.Asp1943=)
c.5799T>C (p.Asp1933=)
c.5796T>C (p.Asp1932=)
c.5748T>C (p.Asp1916=)
c.5712T>C (p.Asp1904=)
c.5709T>C (p.Asp1903=)
c.5664T>C (p.Asp1888=)
n.6329T>C
Xg.77593776A>TCA413703003ATRXc.6030T>A (p.Asp2010Glu)
c.1128T>A (p.Asp376Glu)
c.5916T>A (p.Asp1972Glu)
c.*5658T>A (n.*5658T>A)
c.514T>A
n.3100T>A
c.6027T>A (p.Asp2009Glu)
c.5943T>A (p.Asp1981Glu)
c.5913T>A (p.Asp1971Glu)
c.5865T>A (p.Asp1955Glu)
c.5826T>A (p.Asp1942Glu)
c.5751T>A (p.Asp1917Glu)
n.6372T>A
c.5940T>A (p.Asp1980Glu)
c.5910T>A (p.Asp1970Glu)
c.5862T>A (p.Asp1954Glu)
c.5829T>A (p.Asp1943Glu)
c.5799T>A (p.Asp1933Glu)
c.5796T>A (p.Asp1932Glu)
c.5748T>A (p.Asp1916Glu)
c.5712T>A (p.Asp1904Glu)
c.5709T>A (p.Asp1903Glu)
c.5664T>A (p.Asp1888Glu)
n.6329T>A
Xg.77593777T>ACA413703007ATRXc.6029A>T (p.Asp2010Val)
c.1127A>T (p.Asp376Val)
c.5915A>T (p.Asp1972Val)
c.*5657A>T (n.*5657A>T)
c.513A>T
n.3099A>T
c.6026A>T (p.Asp2009Val)
c.5942A>T (p.Asp1981Val)
c.5912A>T (p.Asp1971Val)
c.5864A>T (p.Asp1955Val)
c.5825A>T (p.Asp1942Val)
c.5750A>T (p.Asp1917Val)
n.6371A>T
c.5939A>T (p.Asp1980Val)
c.5909A>T (p.Asp1970Val)
c.5861A>T (p.Asp1954Val)
c.5828A>T (p.Asp1943Val)
c.5798A>T (p.Asp1933Val)
c.5795A>T (p.Asp1932Val)
c.5747A>T (p.Asp1916Val)
c.5711A>T (p.Asp1904Val)
c.5708A>T (p.Asp1903Val)
c.5663A>T (p.Asp1888Val)
n.6328A>T
 dbSNP gnomAD v3 gnomAD v4
Xg.77593777T>CCA413703009ATRXc.6029A>G (p.Asp2010Gly)
c.1127A>G (p.Asp376Gly)
c.5915A>G (p.Asp1972Gly)
c.*5657A>G (n.*5657A>G)
c.513A>G
n.3099A>G
c.6026A>G (p.Asp2009Gly)
c.5942A>G (p.Asp1981Gly)
c.5912A>G (p.Asp1971Gly)
c.5864A>G (p.Asp1955Gly)
c.5825A>G (p.Asp1942Gly)
c.5750A>G (p.Asp1917Gly)
n.6371A>G
c.5939A>G (p.Asp1980Gly)
c.5909A>G (p.Asp1970Gly)
c.5861A>G (p.Asp1954Gly)
c.5828A>G (p.Asp1943Gly)
c.5798A>G (p.Asp1933Gly)
c.5795A>G (p.Asp1932Gly)
c.5747A>G (p.Asp1916Gly)
c.5711A>G (p.Asp1904Gly)
c.5708A>G (p.Asp1903Gly)
c.5663A>G (p.Asp1888Gly)
n.6328A>G
Xg.77593777T>GCA413703005ATRXc.6029A>C (p.Asp2010Ala)
c.1127A>C (p.Asp376Ala)
c.5915A>C (p.Asp1972Ala)
c.*5657A>C (n.*5657A>C)
c.513A>C
n.3099A>C
c.6026A>C (p.Asp2009Ala)
c.5942A>C (p.Asp1981Ala)
c.5912A>C (p.Asp1971Ala)
c.5864A>C (p.Asp1955Ala)
c.5825A>C (p.Asp1942Ala)
c.5750A>C (p.Asp1917Ala)
n.6371A>C
c.5939A>C (p.Asp1980Ala)
c.5909A>C (p.Asp1970Ala)
c.5861A>C (p.Asp1954Ala)
c.5828A>C (p.Asp1943Ala)
c.5798A>C (p.Asp1933Ala)
c.5795A>C (p.Asp1932Ala)
c.5747A>C (p.Asp1916Ala)
c.5711A>C (p.Asp1904Ala)
c.5708A>C (p.Asp1903Ala)
c.5663A>C (p.Asp1888Ala)
n.6328A>C
Xg.77593777T=CA2438957780ATRXc.6029A= (p.Asp2010=)
c.1127A= (p.Asp376=)
c.5915A= (p.Asp1972=)
c.*5657A= (n.*5657A=)
c.513A=
n.3099A=
c.6026A= (p.Asp2009=)
c.5942A= (p.Asp1981=)
c.5912A= (p.Asp1971=)
c.5864A= (p.Asp1955=)
c.5825A= (p.Asp1942=)
c.5750A= (p.Asp1917=)
n.6371A=
c.5939A= (p.Asp1980=)
c.5909A= (p.Asp1970=)
c.5861A= (p.Asp1954=)
c.5828A= (p.Asp1943=)
c.5798A= (p.Asp1933=)
c.5795A= (p.Asp1932=)
c.5747A= (p.Asp1916=)
c.5711A= (p.Asp1904=)
c.5708A= (p.Asp1903=)
c.5663A= (p.Asp1888=)
n.6328A=
Xg.77593778C>ACA413703013ATRXc.6028G>T (p.Asp2010Tyr)
c.1126G>T (p.Asp376Tyr)
c.5914G>T (p.Asp1972Tyr)
c.*5656G>T (n.*5656G>T)
c.512G>T
n.3098G>T
c.6025G>T (p.Asp2009Tyr)
c.5941G>T (p.Asp1981Tyr)
c.5911G>T (p.Asp1971Tyr)
c.5863G>T (p.Asp1955Tyr)
c.5824G>T (p.Asp1942Tyr)
c.5749G>T (p.Asp1917Tyr)
n.6370G>T
c.5938G>T (p.Asp1980Tyr)
c.5908G>T (p.Asp1970Tyr)
c.5860G>T (p.Asp1954Tyr)
c.5827G>T (p.Asp1943Tyr)
c.5797G>T (p.Asp1933Tyr)
c.5794G>T (p.Asp1932Tyr)
c.5746G>T (p.Asp1916Tyr)
c.5710G>T (p.Asp1904Tyr)
c.5707G>T (p.Asp1903Tyr)
c.5662G>T (p.Asp1888Tyr)
n.6327G>T
Xg.77593778C>GCA413703012ATRXc.6028G>C (p.Asp2010His)
c.1126G>C (p.Asp376His)
c.5914G>C (p.Asp1972His)
c.*5656G>C (n.*5656G>C)
c.512G>C
n.3098G>C
c.6025G>C (p.Asp2009His)
c.5941G>C (p.Asp1981His)
c.5911G>C (p.Asp1971His)
c.5863G>C (p.Asp1955His)
c.5824G>C (p.Asp1942His)
c.5749G>C (p.Asp1917His)
n.6370G>C
c.5938G>C (p.Asp1980His)
c.5908G>C (p.Asp1970His)
c.5860G>C (p.Asp1954His)
c.5827G>C (p.Asp1943His)
c.5797G>C (p.Asp1933His)
c.5794G>C (p.Asp1932His)
c.5746G>C (p.Asp1916His)
c.5710G>C (p.Asp1904His)
c.5707G>C (p.Asp1903His)
c.5662G>C (p.Asp1888His)
n.6327G>C
Xg.77593778C>TCA413703014ATRXc.6028G>A (p.Asp2010Asn)
c.1126G>A (p.Asp376Asn)
c.5914G>A (p.Asp1972Asn)
c.*5656G>A (n.*5656G>A)
c.512G>A
n.3098G>A
c.6025G>A (p.Asp2009Asn)
c.5941G>A (p.Asp1981Asn)
c.5911G>A (p.Asp1971Asn)
c.5863G>A (p.Asp1955Asn)
c.5824G>A (p.Asp1942Asn)
c.5749G>A (p.Asp1917Asn)
n.6370G>A
c.5938G>A (p.Asp1980Asn)
c.5908G>A (p.Asp1970Asn)
c.5860G>A (p.Asp1954Asn)
c.5827G>A (p.Asp1943Asn)
c.5797G>A (p.Asp1933Asn)
c.5794G>A (p.Asp1932Asn)
c.5746G>A (p.Asp1916Asn)
c.5710G>A (p.Asp1904Asn)
c.5707G>A (p.Asp1903Asn)
c.5662G>A (p.Asp1888Asn)
n.6327G>A
Xg.77593779A>CCA517375232ATRXc.6027T>G (p.Ala2009=)
c.1125T>G (p.Ala375=)
c.5913T>G (p.Ala1971=)
c.*5655T>G (n.*5655T>G)
c.511T>G
n.3097T>G
c.6024T>G (p.Ala2008=)
c.5940T>G (p.Ala1980=)
c.5910T>G (p.Ala1970=)
c.5862T>G (p.Ala1954=)
c.5823T>G (p.Ala1941=)
c.5748T>G (p.Ala1916=)
n.6369T>G
c.5937T>G (p.Ala1979=)
c.5907T>G (p.Ala1969=)
c.5859T>G (p.Ala1953=)
c.5826T>G (p.Ala1942=)
c.5796T>G (p.Ala1932=)
c.5793T>G (p.Ala1931=)
c.5745T>G (p.Ala1915=)
c.5709T>G (p.Ala1903=)
c.5706T>G (p.Ala1902=)
c.5661T>G (p.Ala1887=)
n.6326T>G
Xg.77593779A>GCA517375233ATRXc.6027T>C (p.Ala2009=)
c.1125T>C (p.Ala375=)
c.5913T>C (p.Ala1971=)
c.*5655T>C (n.*5655T>C)
c.511T>C
n.3097T>C
c.6024T>C (p.Ala2008=)
c.5940T>C (p.Ala1980=)
c.5910T>C (p.Ala1970=)
c.5862T>C (p.Ala1954=)
c.5823T>C (p.Ala1941=)
c.5748T>C (p.Ala1916=)
n.6369T>C
c.5937T>C (p.Ala1979=)
c.5907T>C (p.Ala1969=)
c.5859T>C (p.Ala1953=)
c.5826T>C (p.Ala1942=)
c.5796T>C (p.Ala1932=)
c.5793T>C (p.Ala1931=)
c.5745T>C (p.Ala1915=)
c.5709T>C (p.Ala1903=)
c.5706T>C (p.Ala1902=)
c.5661T>C (p.Ala1887=)
n.6326T>C
Xg.77593779A>TCA517375234ATRXc.6027T>A (p.Ala2009=)
c.1125T>A (p.Ala375=)
c.5913T>A (p.Ala1971=)
c.*5655T>A (n.*5655T>A)
c.511T>A
n.3097T>A
c.6024T>A (p.Ala2008=)
c.5940T>A (p.Ala1980=)
c.5910T>A (p.Ala1970=)
c.5862T>A (p.Ala1954=)
c.5823T>A (p.Ala1941=)
c.5748T>A (p.Ala1916=)
n.6369T>A
c.5937T>A (p.Ala1979=)
c.5907T>A (p.Ala1969=)
c.5859T>A (p.Ala1953=)
c.5826T>A (p.Ala1942=)
c.5796T>A (p.Ala1932=)
c.5793T>A (p.Ala1931=)
c.5745T>A (p.Ala1915=)
c.5709T>A (p.Ala1903=)
c.5706T>A (p.Ala1902=)
c.5661T>A (p.Ala1887=)
n.6326T>A
 gnomAD v4
Xg.77593780G>ACA413703016ATRXc.6026C>T (p.Ala2009Val)
c.1124C>T (p.Ala375Val)
c.5912C>T (p.Ala1971Val)
c.*5654C>T (n.*5654C>T)
c.510C>T
n.3096C>T
c.6023C>T (p.Ala2008Val)
c.5939C>T (p.Ala1980Val)
c.5909C>T (p.Ala1970Val)
c.5861C>T (p.Ala1954Val)
c.5822C>T (p.Ala1941Val)
c.5747C>T (p.Ala1916Val)
n.6368C>T
c.5936C>T (p.Ala1979Val)
c.5906C>T (p.Ala1969Val)
c.5858C>T (p.Ala1953Val)
c.5825C>T (p.Ala1942Val)
c.5795C>T (p.Ala1932Val)
c.5792C>T (p.Ala1931Val)
c.5744C>T (p.Ala1915Val)
c.5708C>T (p.Ala1903Val)
c.5705C>T (p.Ala1902Val)
c.5660C>T (p.Ala1887Val)
n.6325C>T
Xg.77593780G>CCA413703018ATRXc.6026C>G (p.Ala2009Gly)
c.1124C>G (p.Ala375Gly)
c.5912C>G (p.Ala1971Gly)
c.*5654C>G (n.*5654C>G)
c.510C>G
n.3096C>G
c.6023C>G (p.Ala2008Gly)
c.5939C>G (p.Ala1980Gly)
c.5909C>G (p.Ala1970Gly)
c.5861C>G (p.Ala1954Gly)
c.5822C>G (p.Ala1941Gly)
c.5747C>G (p.Ala1916Gly)
n.6368C>G
c.5936C>G (p.Ala1979Gly)
c.5906C>G (p.Ala1969Gly)
c.5858C>G (p.Ala1953Gly)
c.5825C>G (p.Ala1942Gly)
c.5795C>G (p.Ala1932Gly)
c.5792C>G (p.Ala1931Gly)
c.5744C>G (p.Ala1915Gly)
c.5708C>G (p.Ala1903Gly)
c.5705C>G (p.Ala1902Gly)
c.5660C>G (p.Ala1887Gly)
n.6325C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.77593780G=CA2438957781ATRXc.6026C= (p.Ala2009=)
c.1124C= (p.Ala375=)
c.5912C= (p.Ala1971=)
c.*5654C= (n.*5654C=)
c.510C=
n.3096C=
c.6023C= (p.Ala2008=)
c.5939C= (p.Ala1980=)
c.5909C= (p.Ala1970=)
c.5861C= (p.Ala1954=)
c.5822C= (p.Ala1941=)
c.5747C= (p.Ala1916=)
n.6368C=
c.5936C= (p.Ala1979=)
c.5906C= (p.Ala1969=)
c.5858C= (p.Ala1953=)
c.5825C= (p.Ala1942=)
c.5795C= (p.Ala1932=)
c.5792C= (p.Ala1931=)
c.5744C= (p.Ala1915=)
c.5708C= (p.Ala1903=)
c.5705C= (p.Ala1902=)
c.5660C= (p.Ala1887=)
n.6325C=
Xg.77593780G>TCA413703020ATRXc.6026C>A (p.Ala2009Asp)
c.1124C>A (p.Ala375Asp)
c.5912C>A (p.Ala1971Asp)
c.*5654C>A (n.*5654C>A)
c.510C>A
n.3096C>A
c.6023C>A (p.Ala2008Asp)
c.5939C>A (p.Ala1980Asp)
c.5909C>A (p.Ala1970Asp)
c.5861C>A (p.Ala1954Asp)
c.5822C>A (p.Ala1941Asp)
c.5747C>A (p.Ala1916Asp)
n.6368C>A
c.5936C>A (p.Ala1979Asp)
c.5906C>A (p.Ala1969Asp)
c.5858C>A (p.Ala1953Asp)
c.5825C>A (p.Ala1942Asp)
c.5795C>A (p.Ala1932Asp)
c.5792C>A (p.Ala1931Asp)
c.5744C>A (p.Ala1915Asp)
c.5708C>A (p.Ala1903Asp)
c.5705C>A (p.Ala1902Asp)
c.5660C>A (p.Ala1887Asp)
n.6325C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.77593781C>ACA413703023ATRXc.6025G>T (p.Ala2009Ser)
c.1123G>T (p.Ala375Ser)
c.5911G>T (p.Ala1971Ser)
c.*5653G>T (n.*5653G>T)
c.509G>T
n.3095G>T
c.6022G>T (p.Ala2008Ser)
c.5938G>T (p.Ala1980Ser)
c.5908G>T (p.Ala1970Ser)
c.5860G>T (p.Ala1954Ser)
c.5821G>T (p.Ala1941Ser)
c.5746G>T (p.Ala1916Ser)
n.6367G>T
c.5935G>T (p.Ala1979Ser)
c.5905G>T (p.Ala1969Ser)
c.5857G>T (p.Ala1953Ser)
c.5824G>T (p.Ala1942Ser)
c.5794G>T (p.Ala1932Ser)
c.5791G>T (p.Ala1931Ser)
c.5743G>T (p.Ala1915Ser)
c.5707G>T (p.Ala1903Ser)
c.5704G>T (p.Ala1902Ser)
c.5659G>T (p.Ala1887Ser)
n.6324G>T
Xg.77593781C>GCA413703024ATRXc.6025G>C (p.Ala2009Pro)
c.1123G>C (p.Ala375Pro)
c.5911G>C (p.Ala1971Pro)
c.*5653G>C (n.*5653G>C)
c.509G>C
n.3095G>C
c.6022G>C (p.Ala2008Pro)
c.5938G>C (p.Ala1980Pro)
c.5908G>C (p.Ala1970Pro)
c.5860G>C (p.Ala1954Pro)
c.5821G>C (p.Ala1941Pro)
c.5746G>C (p.Ala1916Pro)
n.6367G>C
c.5935G>C (p.Ala1979Pro)
c.5905G>C (p.Ala1969Pro)
c.5857G>C (p.Ala1953Pro)
c.5824G>C (p.Ala1942Pro)
c.5794G>C (p.Ala1932Pro)
c.5791G>C (p.Ala1931Pro)
c.5743G>C (p.Ala1915Pro)
c.5707G>C (p.Ala1903Pro)
c.5704G>C (p.Ala1902Pro)
c.5659G>C (p.Ala1887Pro)
n.6324G>C
Xg.77593781C>TCA413703026ATRXc.6025G>A (p.Ala2009Thr)
c.1123G>A (p.Ala375Thr)
c.5911G>A (p.Ala1971Thr)
c.*5653G>A (n.*5653G>A)
c.509G>A
n.3095G>A
c.6022G>A (p.Ala2008Thr)
c.5938G>A (p.Ala1980Thr)
c.5908G>A (p.Ala1970Thr)
c.5860G>A (p.Ala1954Thr)
c.5821G>A (p.Ala1941Thr)
c.5746G>A (p.Ala1916Thr)
n.6367G>A
c.5935G>A (p.Ala1979Thr)
c.5905G>A (p.Ala1969Thr)
c.5857G>A (p.Ala1953Thr)
c.5824G>A (p.Ala1942Thr)
c.5794G>A (p.Ala1932Thr)
c.5791G>A (p.Ala1931Thr)
c.5743G>A (p.Ala1915Thr)
c.5707G>A (p.Ala1903Thr)
c.5704G>A (p.Ala1902Thr)
c.5659G>A (p.Ala1887Thr)
n.6324G>A
Xg.77593782A=CA2438957782ATRXc.6024T= (p.Asp2008=)
c.1122T= (p.Asp374=)
c.5910T= (p.Asp1970=)
c.*5652T= (n.*5652T=)
c.508T=
n.3094T=
c.6021T= (p.Asp2007=)
c.5937T= (p.Asp1979=)
c.5907T= (p.Asp1969=)
c.5859T= (p.Asp1953=)
c.5820T= (p.Asp1940=)
c.5745T= (p.Asp1915=)
n.6366T=
c.5934T= (p.Asp1978=)
c.5904T= (p.Asp1968=)
c.5856T= (p.Asp1952=)
c.5823T= (p.Asp1941=)
c.5793T= (p.Asp1931=)
c.5790T= (p.Asp1930=)
c.5742T= (p.Asp1914=)
c.5706T= (p.Asp1902=)
c.5703T= (p.Asp1901=)
c.5658T= (p.Asp1886=)
n.6323T=
Xg.77593782A>CCA413703029ATRXc.6024T>G (p.Asp2008Glu)
c.1122T>G (p.Asp374Glu)
c.5910T>G (p.Asp1970Glu)
c.*5652T>G (n.*5652T>G)
c.508T>G
n.3094T>G
c.6021T>G (p.Asp2007Glu)
c.5937T>G (p.Asp1979Glu)
c.5907T>G (p.Asp1969Glu)
c.5859T>G (p.Asp1953Glu)
c.5820T>G (p.Asp1940Glu)
c.5745T>G (p.Asp1915Glu)
n.6366T>G
c.5934T>G (p.Asp1978Glu)
c.5904T>G (p.Asp1968Glu)
c.5856T>G (p.Asp1952Glu)
c.5823T>G (p.Asp1941Glu)
c.5793T>G (p.Asp1931Glu)
c.5790T>G (p.Asp1930Glu)
c.5742T>G (p.Asp1914Glu)
c.5706T>G (p.Asp1902Glu)
c.5703T>G (p.Asp1901Glu)
c.5658T>G (p.Asp1886Glu)
n.6323T>G
Xg.77593782A>GCA10457569ATRXc.6024T>C (p.Asp2008=)
c.1122T>C (p.Asp374=)
c.5910T>C (p.Asp1970=)
c.*5652T>C (n.*5652T>C)
c.508T>C
n.3094T>C
c.6021T>C (p.Asp2007=)
c.5937T>C (p.Asp1979=)
c.5907T>C (p.Asp1969=)
c.5859T>C (p.Asp1953=)
c.5820T>C (p.Asp1940=)
c.5745T>C (p.Asp1915=)
n.6366T>C
c.5934T>C (p.Asp1978=)
c.5904T>C (p.Asp1968=)
c.5856T>C (p.Asp1952=)
c.5823T>C (p.Asp1941=)
c.5793T>C (p.Asp1931=)
c.5790T>C (p.Asp1930=)
c.5742T>C (p.Asp1914=)
c.5706T>C (p.Asp1902=)
c.5703T>C (p.Asp1901=)
c.5658T>C (p.Asp1886=)
n.6323T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77593782A>TCA413703031ATRXc.6024T>A (p.Asp2008Glu)
c.1122T>A (p.Asp374Glu)
c.5910T>A (p.Asp1970Glu)
c.*5652T>A (n.*5652T>A)
c.508T>A
n.3094T>A
c.6021T>A (p.Asp2007Glu)
c.5937T>A (p.Asp1979Glu)
c.5907T>A (p.Asp1969Glu)
c.5859T>A (p.Asp1953Glu)
c.5820T>A (p.Asp1940Glu)
c.5745T>A (p.Asp1915Glu)
n.6366T>A
c.5934T>A (p.Asp1978Glu)
c.5904T>A (p.Asp1968Glu)
c.5856T>A (p.Asp1952Glu)
c.5823T>A (p.Asp1941Glu)
c.5793T>A (p.Asp1931Glu)
c.5790T>A (p.Asp1930Glu)
c.5742T>A (p.Asp1914Glu)
c.5706T>A (p.Asp1902Glu)
c.5703T>A (p.Asp1901Glu)
c.5658T>A (p.Asp1886Glu)
n.6323T>A
Xg.77593783T>ACA413703034ATRXc.6023A>T (p.Asp2008Val)
c.1121A>T (p.Asp374Val)
c.5909A>T (p.Asp1970Val)
c.*5651A>T (n.*5651A>T)
c.507A>T
n.3093A>T
c.6020A>T (p.Asp2007Val)
c.5936A>T (p.Asp1979Val)
c.5906A>T (p.Asp1969Val)
c.5858A>T (p.Asp1953Val)
c.5819A>T (p.Asp1940Val)
c.5744A>T (p.Asp1915Val)
n.6365A>T
c.5933A>T (p.Asp1978Val)
c.5903A>T (p.Asp1968Val)
c.5855A>T (p.Asp1952Val)
c.5822A>T (p.Asp1941Val)
c.5792A>T (p.Asp1931Val)
c.5789A>T (p.Asp1930Val)
c.5741A>T (p.Asp1914Val)
c.5705A>T (p.Asp1902Val)
c.5702A>T (p.Asp1901Val)
c.5657A>T (p.Asp1886Val)
n.6322A>T
Xg.77593783T>CCA413703035ATRXc.6023A>G (p.Asp2008Gly)
c.1121A>G (p.Asp374Gly)
c.5909A>G (p.Asp1970Gly)
c.*5651A>G (n.*5651A>G)
c.507A>G
n.3093A>G
c.6020A>G (p.Asp2007Gly)
c.5936A>G (p.Asp1979Gly)
c.5906A>G (p.Asp1969Gly)
c.5858A>G (p.Asp1953Gly)
c.5819A>G (p.Asp1940Gly)
c.5744A>G (p.Asp1915Gly)
n.6365A>G
c.5933A>G (p.Asp1978Gly)
c.5903A>G (p.Asp1968Gly)
c.5855A>G (p.Asp1952Gly)
c.5822A>G (p.Asp1941Gly)
c.5792A>G (p.Asp1931Gly)
c.5789A>G (p.Asp1930Gly)
c.5741A>G (p.Asp1914Gly)
c.5705A>G (p.Asp1902Gly)
c.5702A>G (p.Asp1901Gly)
c.5657A>G (p.Asp1886Gly)
n.6322A>G
Xg.77593783T>GCA413703037ATRXc.6023A>C (p.Asp2008Ala)
c.1121A>C (p.Asp374Ala)
c.5909A>C (p.Asp1970Ala)
c.*5651A>C (n.*5651A>C)
c.507A>C
n.3093A>C
c.6020A>C (p.Asp2007Ala)
c.5936A>C (p.Asp1979Ala)
c.5906A>C (p.Asp1969Ala)
c.5858A>C (p.Asp1953Ala)
c.5819A>C (p.Asp1940Ala)
c.5744A>C (p.Asp1915Ala)
n.6365A>C
c.5933A>C (p.Asp1978Ala)
c.5903A>C (p.Asp1968Ala)
c.5855A>C (p.Asp1952Ala)
c.5822A>C (p.Asp1941Ala)
c.5792A>C (p.Asp1931Ala)
c.5789A>C (p.Asp1930Ala)
c.5741A>C (p.Asp1914Ala)
c.5705A>C (p.Asp1902Ala)
c.5702A>C (p.Asp1901Ala)
c.5657A>C (p.Asp1886Ala)
n.6322A>C
Xg.77593784C>ACA413703043ATRXc.6022G>T (p.Asp2008Tyr)
c.1120G>T (p.Asp374Tyr)
c.5908G>T (p.Asp1970Tyr)
c.*5650G>T (n.*5650G>T)
c.506G>T
n.3092G>T
c.6019G>T (p.Asp2007Tyr)
c.5935G>T (p.Asp1979Tyr)
c.5905G>T (p.Asp1969Tyr)
c.5857G>T (p.Asp1953Tyr)
c.5818G>T (p.Asp1940Tyr)
c.5743G>T (p.Asp1915Tyr)
n.6364G>T
c.5932G>T (p.Asp1978Tyr)
c.5902G>T (p.Asp1968Tyr)
c.5854G>T (p.Asp1952Tyr)
c.5821G>T (p.Asp1941Tyr)
c.5791G>T (p.Asp1931Tyr)
c.5788G>T (p.Asp1930Tyr)
c.5740G>T (p.Asp1914Tyr)
c.5704G>T (p.Asp1902Tyr)
c.5701G>T (p.Asp1901Tyr)
c.5656G>T (p.Asp1886Tyr)
n.6321G>T
Xg.77593784C>GCA413703039ATRXc.6022G>C (p.Asp2008His)
c.1120G>C (p.Asp374His)
c.5908G>C (p.Asp1970His)
c.*5650G>C (n.*5650G>C)
c.506G>C
n.3092G>C
c.6019G>C (p.Asp2007His)
c.5935G>C (p.Asp1979His)
c.5905G>C (p.Asp1969His)
c.5857G>C (p.Asp1953His)
c.5818G>C (p.Asp1940His)
c.5743G>C (p.Asp1915His)
n.6364G>C
c.5932G>C (p.Asp1978His)
c.5902G>C (p.Asp1968His)
c.5854G>C (p.Asp1952His)
c.5821G>C (p.Asp1941His)
c.5791G>C (p.Asp1931His)
c.5788G>C (p.Asp1930His)
c.5740G>C (p.Asp1914His)
c.5704G>C (p.Asp1902His)
c.5701G>C (p.Asp1901His)
c.5656G>C (p.Asp1886His)
n.6321G>C
Xg.77593784C>TCA413703041ATRXc.6022G>A (p.Asp2008Asn)
c.1120G>A (p.Asp374Asn)
c.5908G>A (p.Asp1970Asn)
c.*5650G>A (n.*5650G>A)
c.506G>A
n.3092G>A
c.6019G>A (p.Asp2007Asn)
c.5935G>A (p.Asp1979Asn)
c.5905G>A (p.Asp1969Asn)
c.5857G>A (p.Asp1953Asn)
c.5818G>A (p.Asp1940Asn)
c.5743G>A (p.Asp1915Asn)
n.6364G>A
c.5932G>A (p.Asp1978Asn)
c.5902G>A (p.Asp1968Asn)
c.5854G>A (p.Asp1952Asn)
c.5821G>A (p.Asp1941Asn)
c.5791G>A (p.Asp1931Asn)
c.5788G>A (p.Asp1930Asn)
c.5740G>A (p.Asp1914Asn)
c.5704G>A (p.Asp1902Asn)
c.5701G>A (p.Asp1901Asn)
c.5656G>A (p.Asp1886Asn)
n.6321G>A
Xg.77593785T>ACA517375235ATRXc.6021A>T (p.Thr2007=)
c.1119A>T (p.Thr373=)
c.5907A>T (p.Thr1969=)
c.*5649A>T (n.*5649A>T)
c.505A>T
n.3091A>T
c.6018A>T (p.Thr2006=)
c.5934A>T (p.Thr1978=)
c.5904A>T (p.Thr1968=)
c.5856A>T (p.Thr1952=)
c.5817A>T (p.Thr1939=)
c.5742A>T (p.Thr1914=)
n.6363A>T
c.5931A>T (p.Thr1977=)
c.5901A>T (p.Thr1967=)
c.5853A>T (p.Thr1951=)
c.5820A>T (p.Thr1940=)
c.5790A>T (p.Thr1930=)
c.5787A>T (p.Thr1929=)
c.5739A>T (p.Thr1913=)
c.5703A>T (p.Thr1901=)
c.5700A>T (p.Thr1900=)
c.5655A>T (p.Thr1885=)
n.6320A>T
Xg.77593785T>CCA10457570ATRXc.6021A>G (p.Thr2007=)
c.1119A>G (p.Thr373=)
c.5907A>G (p.Thr1969=)
c.*5649A>G (n.*5649A>G)
c.505A>G
n.3091A>G
c.6018A>G (p.Thr2006=)
c.5934A>G (p.Thr1978=)
c.5904A>G (p.Thr1968=)
c.5856A>G (p.Thr1952=)
c.5817A>G (p.Thr1939=)
c.5742A>G (p.Thr1914=)
n.6363A>G
c.5931A>G (p.Thr1977=)
c.5901A>G (p.Thr1967=)
c.5853A>G (p.Thr1951=)
c.5820A>G (p.Thr1940=)
c.5790A>G (p.Thr1930=)
c.5787A>G (p.Thr1929=)
c.5739A>G (p.Thr1913=)
c.5703A>G (p.Thr1901=)
c.5700A>G (p.Thr1900=)
c.5655A>G (p.Thr1885=)
n.6320A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77593785T>GCA517375236ATRXc.6021A>C (p.Thr2007=)
c.1119A>C (p.Thr373=)
c.5907A>C (p.Thr1969=)
c.*5649A>C (n.*5649A>C)
c.505A>C
n.3091A>C
c.6018A>C (p.Thr2006=)
c.5934A>C (p.Thr1978=)
c.5904A>C (p.Thr1968=)
c.5856A>C (p.Thr1952=)
c.5817A>C (p.Thr1939=)
c.5742A>C (p.Thr1914=)
n.6363A>C
c.5931A>C (p.Thr1977=)
c.5901A>C (p.Thr1967=)
c.5853A>C (p.Thr1951=)
c.5820A>C (p.Thr1940=)
c.5790A>C (p.Thr1930=)
c.5787A>C (p.Thr1929=)
c.5739A>C (p.Thr1913=)
c.5703A>C (p.Thr1901=)
c.5700A>C (p.Thr1900=)
c.5655A>C (p.Thr1885=)
n.6320A>C
Xg.77593785T=CA2438957783ATRXc.6021A= (p.Thr2007=)
c.1119A= (p.Thr373=)
c.5907A= (p.Thr1969=)
c.*5649A= (n.*5649A=)
c.505A=
n.3091A=
c.6018A= (p.Thr2006=)
c.5934A= (p.Thr1978=)
c.5904A= (p.Thr1968=)
c.5856A= (p.Thr1952=)
c.5817A= (p.Thr1939=)
c.5742A= (p.Thr1914=)
n.6363A=
c.5931A= (p.Thr1977=)
c.5901A= (p.Thr1967=)
c.5853A= (p.Thr1951=)
c.5820A= (p.Thr1940=)
c.5790A= (p.Thr1930=)
c.5787A= (p.Thr1929=)
c.5739A= (p.Thr1913=)
c.5703A= (p.Thr1901=)
c.5700A= (p.Thr1900=)
c.5655A= (p.Thr1885=)
n.6320A=
Xg.77593786G>ACA413703046ATRXc.6020C>T (p.Thr2007Ile)
c.1118C>T (p.Thr373Ile)
c.5906C>T (p.Thr1969Ile)
c.*5648C>T (n.*5648C>T)
c.504C>T
n.3090C>T
c.6017C>T (p.Thr2006Ile)
c.5933C>T (p.Thr1978Ile)
c.5903C>T (p.Thr1968Ile)
c.5855C>T (p.Thr1952Ile)
c.5816C>T (p.Thr1939Ile)
c.5741C>T (p.Thr1914Ile)
n.6362C>T
c.5930C>T (p.Thr1977Ile)
c.5900C>T (p.Thr1967Ile)
c.5852C>T (p.Thr1951Ile)
c.5819C>T (p.Thr1940Ile)
c.5789C>T (p.Thr1930Ile)
c.5786C>T (p.Thr1929Ile)
c.5738C>T (p.Thr1913Ile)
c.5702C>T (p.Thr1901Ile)
c.5699C>T (p.Thr1900Ile)
c.5654C>T (p.Thr1885Ile)
n.6319C>T
Xg.77593786G>CCA413703048ATRXc.6020C>G (p.Thr2007Arg)
c.1118C>G (p.Thr373Arg)
c.5906C>G (p.Thr1969Arg)
c.*5648C>G (n.*5648C>G)
c.504C>G
n.3090C>G
c.6017C>G (p.Thr2006Arg)
c.5933C>G (p.Thr1978Arg)
c.5903C>G (p.Thr1968Arg)
c.5855C>G (p.Thr1952Arg)
c.5816C>G (p.Thr1939Arg)
c.5741C>G (p.Thr1914Arg)
n.6362C>G
c.5930C>G (p.Thr1977Arg)
c.5900C>G (p.Thr1967Arg)
c.5852C>G (p.Thr1951Arg)
c.5819C>G (p.Thr1940Arg)
c.5789C>G (p.Thr1930Arg)
c.5786C>G (p.Thr1929Arg)
c.5738C>G (p.Thr1913Arg)
c.5702C>G (p.Thr1901Arg)
c.5699C>G (p.Thr1900Arg)
c.5654C>G (p.Thr1885Arg)
n.6319C>G
Xg.77593786G>TCA413703050ATRXc.6020C>A (p.Thr2007Lys)
c.1118C>A (p.Thr373Lys)
c.5906C>A (p.Thr1969Lys)
c.*5648C>A (n.*5648C>A)
c.504C>A
n.3090C>A
c.6017C>A (p.Thr2006Lys)
c.5933C>A (p.Thr1978Lys)
c.5903C>A (p.Thr1968Lys)
c.5855C>A (p.Thr1952Lys)
c.5816C>A (p.Thr1939Lys)
c.5741C>A (p.Thr1914Lys)
n.6362C>A
c.5930C>A (p.Thr1977Lys)
c.5900C>A (p.Thr1967Lys)
c.5852C>A (p.Thr1951Lys)
c.5819C>A (p.Thr1940Lys)
c.5789C>A (p.Thr1930Lys)
c.5786C>A (p.Thr1929Lys)
c.5738C>A (p.Thr1913Lys)
c.5702C>A (p.Thr1901Lys)
c.5699C>A (p.Thr1900Lys)
c.5654C>A (p.Thr1885Lys)
n.6319C>A
Xg.77593787T>ACA413703052ATRXc.6019A>T (p.Thr2007Ser)
c.1117A>T (p.Thr373Ser)
c.5905A>T (p.Thr1969Ser)
c.*5647A>T (n.*5647A>T)
c.503A>T
n.3089A>T
c.6016A>T (p.Thr2006Ser)
c.5932A>T (p.Thr1978Ser)
c.5902A>T (p.Thr1968Ser)
c.5854A>T (p.Thr1952Ser)
c.5815A>T (p.Thr1939Ser)
c.5740A>T (p.Thr1914Ser)
n.6361A>T
c.5929A>T (p.Thr1977Ser)
c.5899A>T (p.Thr1967Ser)
c.5851A>T (p.Thr1951Ser)
c.5818A>T (p.Thr1940Ser)
c.5788A>T (p.Thr1930Ser)
c.5785A>T (p.Thr1929Ser)
c.5737A>T (p.Thr1913Ser)
c.5701A>T (p.Thr1901Ser)
c.5698A>T (p.Thr1900Ser)
c.5653A>T (p.Thr1885Ser)
n.6318A>T
Xg.77593787T>CCA331564499ATRXc.6019A>G (p.Thr2007Ala)
c.1117A>G (p.Thr373Ala)
c.5905A>G (p.Thr1969Ala)
c.*5647A>G (n.*5647A>G)
c.503A>G
n.3089A>G
c.6016A>G (p.Thr2006Ala)
c.5932A>G (p.Thr1978Ala)
c.5902A>G (p.Thr1968Ala)
c.5854A>G (p.Thr1952Ala)
c.5815A>G (p.Thr1939Ala)
c.5740A>G (p.Thr1914Ala)
n.6361A>G
c.5929A>G (p.Thr1977Ala)
c.5899A>G (p.Thr1967Ala)
c.5851A>G (p.Thr1951Ala)
c.5818A>G (p.Thr1940Ala)
c.5788A>G (p.Thr1930Ala)
c.5785A>G (p.Thr1929Ala)
c.5737A>G (p.Thr1913Ala)
c.5701A>G (p.Thr1901Ala)
c.5698A>G (p.Thr1900Ala)
c.5653A>G (p.Thr1885Ala)
n.6318A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.77593787T>GCA413703055ATRXc.6019A>C (p.Thr2007Pro)
c.1117A>C (p.Thr373Pro)
c.5905A>C (p.Thr1969Pro)
c.*5647A>C (n.*5647A>C)
c.503A>C
n.3089A>C
c.6016A>C (p.Thr2006Pro)
c.5932A>C (p.Thr1978Pro)
c.5902A>C (p.Thr1968Pro)
c.5854A>C (p.Thr1952Pro)
c.5815A>C (p.Thr1939Pro)
c.5740A>C (p.Thr1914Pro)
n.6361A>C
c.5929A>C (p.Thr1977Pro)
c.5899A>C (p.Thr1967Pro)
c.5851A>C (p.Thr1951Pro)
c.5818A>C (p.Thr1940Pro)
c.5788A>C (p.Thr1930Pro)
c.5785A>C (p.Thr1929Pro)
c.5737A>C (p.Thr1913Pro)
c.5701A>C (p.Thr1901Pro)
c.5698A>C (p.Thr1900Pro)
c.5653A>C (p.Thr1885Pro)
n.6318A>C
Xg.77593787T=CA2438957784ATRXc.6019A= (p.Thr2007=)
c.1117A= (p.Thr373=)
c.5905A= (p.Thr1969=)
c.*5647A= (n.*5647A=)
c.503A=
n.3089A=
c.6016A= (p.Thr2006=)
c.5932A= (p.Thr1978=)
c.5902A= (p.Thr1968=)
c.5854A= (p.Thr1952=)
c.5815A= (p.Thr1939=)
c.5740A= (p.Thr1914=)
n.6361A=
c.5929A= (p.Thr1977=)
c.5899A= (p.Thr1967=)
c.5851A= (p.Thr1951=)
c.5818A= (p.Thr1940=)
c.5788A= (p.Thr1930=)
c.5785A= (p.Thr1929=)
c.5737A= (p.Thr1913=)
c.5701A= (p.Thr1901=)
c.5698A= (p.Thr1900=)
c.5653A= (p.Thr1885=)
n.6318A=
Xg.77593788A=CA2438957785ATRXc.6018T= (p.Val2006=)
c.1116T= (p.Val372=)
c.5904T= (p.Val1968=)
c.*5646T= (n.*5646T=)
c.502T=
n.3088T=
c.6015T= (p.Val2005=)
c.5931T= (p.Val1977=)
c.5901T= (p.Val1967=)
c.5853T= (p.Val1951=)
c.5814T= (p.Val1938=)
c.5739T= (p.Val1913=)
n.6360T=
c.5928T= (p.Val1976=)
c.5898T= (p.Val1966=)
c.5850T= (p.Val1950=)
c.5817T= (p.Val1939=)
c.5787T= (p.Val1929=)
c.5784T= (p.Val1928=)
c.5736T= (p.Val1912=)
c.5700T= (p.Val1900=)
c.5697T= (p.Val1899=)
c.5652T= (p.Val1884=)
n.6317T=
Xg.77593788A>CCA517375237ATRXc.6018T>G (p.Val2006=)
c.1116T>G (p.Val372=)
c.5904T>G (p.Val1968=)
c.*5646T>G (n.*5646T>G)
c.502T>G
n.3088T>G
c.6015T>G (p.Val2005=)
c.5931T>G (p.Val1977=)
c.5901T>G (p.Val1967=)
c.5853T>G (p.Val1951=)
c.5814T>G (p.Val1938=)
c.5739T>G (p.Val1913=)
n.6360T>G
c.5928T>G (p.Val1976=)
c.5898T>G (p.Val1966=)
c.5850T>G (p.Val1950=)
c.5817T>G (p.Val1939=)
c.5787T>G (p.Val1929=)
c.5784T>G (p.Val1928=)
c.5736T>G (p.Val1912=)
c.5700T>G (p.Val1900=)
c.5697T>G (p.Val1899=)
c.5652T>G (p.Val1884=)
n.6317T>G
Xg.77593788A>GCA517375238ATRXc.6018T>C (p.Val2006=)
c.1116T>C (p.Val372=)
c.5904T>C (p.Val1968=)
c.*5646T>C (n.*5646T>C)
c.502T>C
n.3088T>C
c.6015T>C (p.Val2005=)
c.5931T>C (p.Val1977=)
c.5901T>C (p.Val1967=)
c.5853T>C (p.Val1951=)
c.5814T>C (p.Val1938=)
c.5739T>C (p.Val1913=)
n.6360T>C
c.5928T>C (p.Val1976=)
c.5898T>C (p.Val1966=)
c.5850T>C (p.Val1950=)
c.5817T>C (p.Val1939=)
c.5787T>C (p.Val1929=)
c.5784T>C (p.Val1928=)
c.5736T>C (p.Val1912=)
c.5700T>C (p.Val1900=)
c.5697T>C (p.Val1899=)
c.5652T>C (p.Val1884=)
n.6317T>C
Xg.77593788A>TCA10457571ATRXc.6018T>A (p.Val2006=)
c.1116T>A (p.Val372=)
c.5904T>A (p.Val1968=)
c.*5646T>A (n.*5646T>A)
c.502T>A
n.3088T>A
c.6015T>A (p.Val2005=)
c.5931T>A (p.Val1977=)
c.5901T>A (p.Val1967=)
c.5853T>A (p.Val1951=)
c.5814T>A (p.Val1938=)
c.5739T>A (p.Val1913=)
n.6360T>A
c.5928T>A (p.Val1976=)
c.5898T>A (p.Val1966=)
c.5850T>A (p.Val1950=)
c.5817T>A (p.Val1939=)
c.5787T>A (p.Val1929=)
c.5784T>A (p.Val1928=)
c.5736T>A (p.Val1912=)
c.5700T>A (p.Val1900=)
c.5697T>A (p.Val1899=)
c.5652T>A (p.Val1884=)
n.6317T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77593789A>CCA413703058ATRXc.6017T>G (p.Val2006Gly)
c.1115T>G (p.Val372Gly)
c.5903T>G (p.Val1968Gly)
c.*5645T>G (n.*5645T>G)
c.501T>G
n.3087T>G
c.6014T>G (p.Val2005Gly)
c.5930T>G (p.Val1977Gly)
c.5900T>G (p.Val1967Gly)
c.5852T>G (p.Val1951Gly)
c.5813T>G (p.Val1938Gly)
c.5738T>G (p.Val1913Gly)
n.6359T>G
c.5927T>G (p.Val1976Gly)
c.5897T>G (p.Val1966Gly)
c.5849T>G (p.Val1950Gly)
c.5816T>G (p.Val1939Gly)
c.5786T>G (p.Val1929Gly)
c.5783T>G (p.Val1928Gly)
c.5735T>G (p.Val1912Gly)
c.5699T>G (p.Val1900Gly)
c.5696T>G (p.Val1899Gly)
c.5651T>G (p.Val1884Gly)
n.6316T>G
Xg.77593789A>GCA413703060ATRXc.6017T>C (p.Val2006Ala)
c.1115T>C (p.Val372Ala)
c.5903T>C (p.Val1968Ala)
c.*5645T>C (n.*5645T>C)
c.501T>C
n.3087T>C
c.6014T>C (p.Val2005Ala)
c.5930T>C (p.Val1977Ala)
c.5900T>C (p.Val1967Ala)
c.5852T>C (p.Val1951Ala)
c.5813T>C (p.Val1938Ala)
c.5738T>C (p.Val1913Ala)
n.6359T>C
c.5927T>C (p.Val1976Ala)
c.5897T>C (p.Val1966Ala)
c.5849T>C (p.Val1950Ala)
c.5816T>C (p.Val1939Ala)
c.5786T>C (p.Val1929Ala)
c.5783T>C (p.Val1928Ala)
c.5735T>C (p.Val1912Ala)
c.5699T>C (p.Val1900Ala)
c.5696T>C (p.Val1899Ala)
c.5651T>C (p.Val1884Ala)
n.6316T>C
Xg.77593789A>TCA413703062ATRXc.6017T>A (p.Val2006Asp)
c.1115T>A (p.Val372Asp)
c.5903T>A (p.Val1968Asp)
c.*5645T>A (n.*5645T>A)
c.501T>A
n.3087T>A
c.6014T>A (p.Val2005Asp)
c.5930T>A (p.Val1977Asp)
c.5900T>A (p.Val1967Asp)
c.5852T>A (p.Val1951Asp)
c.5813T>A (p.Val1938Asp)
c.5738T>A (p.Val1913Asp)
n.6359T>A
c.5927T>A (p.Val1976Asp)
c.5897T>A (p.Val1966Asp)
c.5849T>A (p.Val1950Asp)
c.5816T>A (p.Val1939Asp)
c.5786T>A (p.Val1929Asp)
c.5783T>A (p.Val1928Asp)
c.5735T>A (p.Val1912Asp)
c.5699T>A (p.Val1900Asp)
c.5696T>A (p.Val1899Asp)
c.5651T>A (p.Val1884Asp)
n.6316T>A
Xg.77593790C>ACA413703066ATRXc.6016G>T (p.Val2006Phe)
c.1114G>T (p.Val372Phe)
c.5902G>T (p.Val1968Phe)
c.*5644G>T (n.*5644G>T)
c.500G>T
n.3086G>T
c.6013G>T (p.Val2005Phe)
c.5929G>T (p.Val1977Phe)
c.5899G>T (p.Val1967Phe)
c.5851G>T (p.Val1951Phe)
c.5812G>T (p.Val1938Phe)
c.5737G>T (p.Val1913Phe)
n.6358G>T
c.5926G>T (p.Val1976Phe)
c.5896G>T (p.Val1966Phe)
c.5848G>T (p.Val1950Phe)
c.5815G>T (p.Val1939Phe)
c.5785G>T (p.Val1929Phe)
c.5782G>T (p.Val1928Phe)
c.5734G>T (p.Val1912Phe)
c.5698G>T (p.Val1900Phe)
c.5695G>T (p.Val1899Phe)
c.5650G>T (p.Val1884Phe)
n.6315G>T
Xg.77593790C>GCA413703068ATRXc.6016G>C (p.Val2006Leu)
c.1114G>C (p.Val372Leu)
c.5902G>C (p.Val1968Leu)
c.*5644G>C (n.*5644G>C)
c.500G>C
n.3086G>C
c.6013G>C (p.Val2005Leu)
c.5929G>C (p.Val1977Leu)
c.5899G>C (p.Val1967Leu)
c.5851G>C (p.Val1951Leu)
c.5812G>C (p.Val1938Leu)
c.5737G>C (p.Val1913Leu)
n.6358G>C
c.5926G>C (p.Val1976Leu)
c.5896G>C (p.Val1966Leu)
c.5848G>C (p.Val1950Leu)
c.5815G>C (p.Val1939Leu)
c.5785G>C (p.Val1929Leu)
c.5782G>C (p.Val1928Leu)
c.5734G>C (p.Val1912Leu)
c.5698G>C (p.Val1900Leu)
c.5695G>C (p.Val1899Leu)
c.5650G>C (p.Val1884Leu)
n.6315G>C
Xg.77593790C>TCA413703064ATRXc.6016G>A (p.Val2006Ile)
c.1114G>A (p.Val372Ile)
c.5902G>A (p.Val1968Ile)
c.*5644G>A (n.*5644G>A)
c.500G>A
n.3086G>A
c.6013G>A (p.Val2005Ile)
c.5929G>A (p.Val1977Ile)
c.5899G>A (p.Val1967Ile)
c.5851G>A (p.Val1951Ile)
c.5812G>A (p.Val1938Ile)
c.5737G>A (p.Val1913Ile)
n.6358G>A
c.5926G>A (p.Val1976Ile)
c.5896G>A (p.Val1966Ile)
c.5848G>A (p.Val1950Ile)
c.5815G>A (p.Val1939Ile)
c.5785G>A (p.Val1929Ile)
c.5782G>A (p.Val1928Ile)
c.5734G>A (p.Val1912Ile)
c.5698G>A (p.Val1900Ile)
c.5695G>A (p.Val1899Ile)
c.5650G>A (p.Val1884Ile)
n.6315G>A
Xg.77593791A>CCA413703070ATRXc.6015T>G (p.Phe2005Leu)
c.1113T>G (p.Phe371Leu)
c.5901T>G (p.Phe1967Leu)
c.*5643T>G (n.*5643T>G)
c.499T>G
n.3085T>G
c.6012T>G (p.Phe2004Leu)
c.5928T>G (p.Phe1976Leu)
c.5898T>G (p.Phe1966Leu)
c.5850T>G (p.Phe1950Leu)
c.5811T>G (p.Phe1937Leu)
c.5736T>G (p.Phe1912Leu)
n.6357T>G
c.5925T>G (p.Phe1975Leu)
c.5895T>G (p.Phe1965Leu)
c.5847T>G (p.Phe1949Leu)
c.5814T>G (p.Phe1938Leu)
c.5784T>G (p.Phe1928Leu)
c.5781T>G (p.Phe1927Leu)
c.5733T>G (p.Phe1911Leu)
c.5697T>G (p.Phe1899Leu)
c.5694T>G (p.Phe1898Leu)
c.5649T>G (p.Phe1883Leu)
n.6314T>G
Xg.77593791A>GCA517375239ATRXc.6015T>C (p.Phe2005=)
c.1113T>C (p.Phe371=)
c.5901T>C (p.Phe1967=)
c.*5643T>C (n.*5643T>C)
c.499T>C
n.3085T>C
c.6012T>C (p.Phe2004=)
c.5928T>C (p.Phe1976=)
c.5898T>C (p.Phe1966=)
c.5850T>C (p.Phe1950=)
c.5811T>C (p.Phe1937=)
c.5736T>C (p.Phe1912=)
n.6357T>C
c.5925T>C (p.Phe1975=)
c.5895T>C (p.Phe1965=)
c.5847T>C (p.Phe1949=)
c.5814T>C (p.Phe1938=)
c.5784T>C (p.Phe1928=)
c.5781T>C (p.Phe1927=)
c.5733T>C (p.Phe1911=)
c.5697T>C (p.Phe1899=)
c.5694T>C (p.Phe1898=)
c.5649T>C (p.Phe1883=)
n.6314T>C
Xg.77593791A>TCA413703072ATRXc.6015T>A (p.Phe2005Leu)
c.1113T>A (p.Phe371Leu)
c.5901T>A (p.Phe1967Leu)
c.*5643T>A (n.*5643T>A)
c.499T>A
n.3085T>A
c.6012T>A (p.Phe2004Leu)
c.5928T>A (p.Phe1976Leu)
c.5898T>A (p.Phe1966Leu)
c.5850T>A (p.Phe1950Leu)
c.5811T>A (p.Phe1937Leu)
c.5736T>A (p.Phe1912Leu)
n.6357T>A
c.5925T>A (p.Phe1975Leu)
c.5895T>A (p.Phe1965Leu)
c.5847T>A (p.Phe1949Leu)
c.5814T>A (p.Phe1938Leu)
c.5784T>A (p.Phe1928Leu)
c.5781T>A (p.Phe1927Leu)
c.5733T>A (p.Phe1911Leu)
c.5697T>A (p.Phe1899Leu)
c.5694T>A (p.Phe1898Leu)
c.5649T>A (p.Phe1883Leu)
n.6314T>A
Xg.77593792A>CCA413703074ATRXc.6014T>G (p.Phe2005Cys)
c.1112T>G (p.Phe371Cys)
c.5900T>G (p.Phe1967Cys)
c.*5642T>G (n.*5642T>G)
c.498T>G
n.3084T>G
c.6011T>G (p.Phe2004Cys)
c.5927T>G (p.Phe1976Cys)
c.5897T>G (p.Phe1966Cys)
c.5849T>G (p.Phe1950Cys)
c.5810T>G (p.Phe1937Cys)
c.5735T>G (p.Phe1912Cys)
n.6356T>G
c.5924T>G (p.Phe1975Cys)
c.5894T>G (p.Phe1965Cys)
c.5846T>G (p.Phe1949Cys)
c.5813T>G (p.Phe1938Cys)
c.5783T>G (p.Phe1928Cys)
c.5780T>G (p.Phe1927Cys)
c.5732T>G (p.Phe1911Cys)
c.5696T>G (p.Phe1899Cys)
c.5693T>G (p.Phe1898Cys)
c.5648T>G (p.Phe1883Cys)
n.6313T>G
Xg.77593792A>GCA413703076ATRXc.6014T>C (p.Phe2005Ser)
c.1112T>C (p.Phe371Ser)
c.5900T>C (p.Phe1967Ser)
c.*5642T>C (n.*5642T>C)
c.498T>C
n.3084T>C
c.6011T>C (p.Phe2004Ser)
c.5927T>C (p.Phe1976Ser)
c.5897T>C (p.Phe1966Ser)
c.5849T>C (p.Phe1950Ser)
c.5810T>C (p.Phe1937Ser)
c.5735T>C (p.Phe1912Ser)
n.6356T>C
c.5924T>C (p.Phe1975Ser)
c.5894T>C (p.Phe1965Ser)
c.5846T>C (p.Phe1949Ser)
c.5813T>C (p.Phe1938Ser)
c.5783T>C (p.Phe1928Ser)
c.5780T>C (p.Phe1927Ser)
c.5732T>C (p.Phe1911Ser)
c.5696T>C (p.Phe1899Ser)
c.5693T>C (p.Phe1898Ser)
c.5648T>C (p.Phe1883Ser)
n.6313T>C
Xg.77593792A>TCA413703077ATRXc.6014T>A (p.Phe2005Tyr)
c.1112T>A (p.Phe371Tyr)
c.5900T>A (p.Phe1967Tyr)
c.*5642T>A (n.*5642T>A)
c.498T>A
n.3084T>A
c.6011T>A (p.Phe2004Tyr)
c.5927T>A (p.Phe1976Tyr)
c.5897T>A (p.Phe1966Tyr)
c.5849T>A (p.Phe1950Tyr)
c.5810T>A (p.Phe1937Tyr)
c.5735T>A (p.Phe1912Tyr)
n.6356T>A
c.5924T>A (p.Phe1975Tyr)
c.5894T>A (p.Phe1965Tyr)
c.5846T>A (p.Phe1949Tyr)
c.5813T>A (p.Phe1938Tyr)
c.5783T>A (p.Phe1928Tyr)
c.5780T>A (p.Phe1927Tyr)
c.5732T>A (p.Phe1911Tyr)
c.5696T>A (p.Phe1899Tyr)
c.5693T>A (p.Phe1898Tyr)
c.5648T>A (p.Phe1883Tyr)
n.6313T>A
Xg.77593793A>CCA413703079ATRXc.6013T>G (p.Phe2005Val)
c.1111T>G (p.Phe371Val)
c.5899T>G (p.Phe1967Val)
c.*5641T>G (n.*5641T>G)
c.497T>G
n.3083T>G
c.6010T>G (p.Phe2004Val)
c.5926T>G (p.Phe1976Val)
c.5896T>G (p.Phe1966Val)
c.5848T>G (p.Phe1950Val)
c.5809T>G (p.Phe1937Val)
c.5734T>G (p.Phe1912Val)
n.6355T>G
c.5923T>G (p.Phe1975Val)
c.5893T>G (p.Phe1965Val)
c.5845T>G (p.Phe1949Val)
c.5812T>G (p.Phe1938Val)
c.5782T>G (p.Phe1928Val)
c.5779T>G (p.Phe1927Val)
c.5731T>G (p.Phe1911Val)
c.5695T>G (p.Phe1899Val)
c.5692T>G (p.Phe1898Val)
c.5647T>G (p.Phe1883Val)
n.6312T>G
Xg.77593793A>GCA413703081ATRXc.6013T>C (p.Phe2005Leu)
c.1111T>C (p.Phe371Leu)
c.5899T>C (p.Phe1967Leu)
c.*5641T>C (n.*5641T>C)
c.497T>C
n.3083T>C
c.6010T>C (p.Phe2004Leu)
c.5926T>C (p.Phe1976Leu)
c.5896T>C (p.Phe1966Leu)
c.5848T>C (p.Phe1950Leu)
c.5809T>C (p.Phe1937Leu)
c.5734T>C (p.Phe1912Leu)
n.6355T>C
c.5923T>C (p.Phe1975Leu)
c.5893T>C (p.Phe1965Leu)
c.5845T>C (p.Phe1949Leu)
c.5812T>C (p.Phe1938Leu)
c.5782T>C (p.Phe1928Leu)
c.5779T>C (p.Phe1927Leu)
c.5731T>C (p.Phe1911Leu)
c.5695T>C (p.Phe1899Leu)
c.5692T>C (p.Phe1898Leu)
c.5647T>C (p.Phe1883Leu)
n.6312T>C
Xg.77593793A>TCA413703083ATRXc.6013T>A (p.Phe2005Ile)
c.1111T>A (p.Phe371Ile)
c.5899T>A (p.Phe1967Ile)
c.*5641T>A (n.*5641T>A)
c.497T>A
n.3083T>A
c.6010T>A (p.Phe2004Ile)
c.5926T>A (p.Phe1976Ile)
c.5896T>A (p.Phe1966Ile)
c.5848T>A (p.Phe1950Ile)
c.5809T>A (p.Phe1937Ile)
c.5734T>A (p.Phe1912Ile)
n.6355T>A
c.5923T>A (p.Phe1975Ile)
c.5893T>A (p.Phe1965Ile)
c.5845T>A (p.Phe1949Ile)
c.5812T>A (p.Phe1938Ile)
c.5782T>A (p.Phe1928Ile)
c.5779T>A (p.Phe1927Ile)
c.5731T>A (p.Phe1911Ile)
c.5695T>A (p.Phe1899Ile)
c.5692T>A (p.Phe1898Ile)
c.5647T>A (p.Phe1883Ile)
n.6312T>A
Xg.77593794A>CCA413703085ATRXc.6012T>G (p.Asp2004Glu)
c.1110T>G (p.Asp370Glu)
c.5898T>G (p.Asp1966Glu)
c.*5640T>G (n.*5640T>G)
c.496T>G
n.3082T>G
c.6009T>G (p.Asp2003Glu)
c.5925T>G (p.Asp1975Glu)
c.5895T>G (p.Asp1965Glu)
c.5847T>G (p.Asp1949Glu)
c.5808T>G (p.Asp1936Glu)
c.5733T>G (p.Asp1911Glu)
n.6354T>G
c.5922T>G (p.Asp1974Glu)
c.5892T>G (p.Asp1964Glu)
c.5844T>G (p.Asp1948Glu)
c.5811T>G (p.Asp1937Glu)
c.5781T>G (p.Asp1927Glu)
c.5778T>G (p.Asp1926Glu)
c.5730T>G (p.Asp1910Glu)
c.5694T>G (p.Asp1898Glu)
c.5691T>G (p.Asp1897Glu)
c.5646T>G (p.Asp1882Glu)
n.6311T>G
Xg.77593794A>GCA517375240ATRXc.6012T>C (p.Asp2004=)
c.1110T>C (p.Asp370=)
c.5898T>C (p.Asp1966=)
c.*5640T>C (n.*5640T>C)
c.496T>C
n.3082T>C
c.6009T>C (p.Asp2003=)
c.5925T>C (p.Asp1975=)
c.5895T>C (p.Asp1965=)
c.5847T>C (p.Asp1949=)
c.5808T>C (p.Asp1936=)
c.5733T>C (p.Asp1911=)
n.6354T>C
c.5922T>C (p.Asp1974=)
c.5892T>C (p.Asp1964=)
c.5844T>C (p.Asp1948=)
c.5811T>C (p.Asp1937=)
c.5781T>C (p.Asp1927=)
c.5778T>C (p.Asp1926=)
c.5730T>C (p.Asp1910=)
c.5694T>C (p.Asp1898=)
c.5691T>C (p.Asp1897=)
c.5646T>C (p.Asp1882=)
n.6311T>C
Xg.77593794A>TCA413703087ATRXc.6012T>A (p.Asp2004Glu)
c.1110T>A (p.Asp370Glu)
c.5898T>A (p.Asp1966Glu)
c.*5640T>A (n.*5640T>A)
c.496T>A
n.3082T>A
c.6009T>A (p.Asp2003Glu)
c.5925T>A (p.Asp1975Glu)
c.5895T>A (p.Asp1965Glu)
c.5847T>A (p.Asp1949Glu)
c.5808T>A (p.Asp1936Glu)
c.5733T>A (p.Asp1911Glu)
n.6354T>A
c.5922T>A (p.Asp1974Glu)
c.5892T>A (p.Asp1964Glu)
c.5844T>A (p.Asp1948Glu)
c.5811T>A (p.Asp1937Glu)
c.5781T>A (p.Asp1927Glu)
c.5778T>A (p.Asp1926Glu)
c.5730T>A (p.Asp1910Glu)
c.5694T>A (p.Asp1898Glu)
c.5691T>A (p.Asp1897Glu)
c.5646T>A (p.Asp1882Glu)
n.6311T>A
Xg.77593795T>ACA413703089ATRXc.6011A>T (p.Asp2004Val)
c.1109A>T (p.Asp370Val)
c.5897A>T (p.Asp1966Val)
c.*5639A>T (n.*5639A>T)
c.495A>T
n.3081A>T
c.6008A>T (p.Asp2003Val)
c.5924A>T (p.Asp1975Val)
c.5894A>T (p.Asp1965Val)
c.5846A>T (p.Asp1949Val)
c.5807A>T (p.Asp1936Val)
c.5732A>T (p.Asp1911Val)
n.6353A>T
c.5921A>T (p.Asp1974Val)
c.5891A>T (p.Asp1964Val)
c.5843A>T (p.Asp1948Val)
c.5810A>T (p.Asp1937Val)
c.5780A>T (p.Asp1927Val)
c.5777A>T (p.Asp1926Val)
c.5729A>T (p.Asp1910Val)
c.5693A>T (p.Asp1898Val)
c.5690A>T (p.Asp1897Val)
c.5645A>T (p.Asp1882Val)
n.6310A>T
Xg.77593795T>CCA413703091ATRXc.6011A>G (p.Asp2004Gly)
c.1109A>G (p.Asp370Gly)
c.5897A>G (p.Asp1966Gly)
c.*5639A>G (n.*5639A>G)
c.495A>G
n.3081A>G
c.6008A>G (p.Asp2003Gly)
c.5924A>G (p.Asp1975Gly)
c.5894A>G (p.Asp1965Gly)
c.5846A>G (p.Asp1949Gly)
c.5807A>G (p.Asp1936Gly)
c.5732A>G (p.Asp1911Gly)
n.6353A>G
c.5921A>G (p.Asp1974Gly)
c.5891A>G (p.Asp1964Gly)
c.5843A>G (p.Asp1948Gly)
c.5810A>G (p.Asp1937Gly)
c.5780A>G (p.Asp1927Gly)
c.5777A>G (p.Asp1926Gly)
c.5729A>G (p.Asp1910Gly)
c.5693A>G (p.Asp1898Gly)
c.5690A>G (p.Asp1897Gly)
c.5645A>G (p.Asp1882Gly)
n.6310A>G
Xg.77593795T>GCA413703093ATRXc.6011A>C (p.Asp2004Ala)
c.1109A>C (p.Asp370Ala)
c.5897A>C (p.Asp1966Ala)
c.*5639A>C (n.*5639A>C)
c.495A>C
n.3081A>C
c.6008A>C (p.Asp2003Ala)
c.5924A>C (p.Asp1975Ala)
c.5894A>C (p.Asp1965Ala)
c.5846A>C (p.Asp1949Ala)
c.5807A>C (p.Asp1936Ala)
c.5732A>C (p.Asp1911Ala)
n.6353A>C
c.5921A>C (p.Asp1974Ala)
c.5891A>C (p.Asp1964Ala)
c.5843A>C (p.Asp1948Ala)
c.5810A>C (p.Asp1937Ala)
c.5780A>C (p.Asp1927Ala)
c.5777A>C (p.Asp1926Ala)
c.5729A>C (p.Asp1910Ala)
c.5693A>C (p.Asp1898Ala)
c.5690A>C (p.Asp1897Ala)
c.5645A>C (p.Asp1882Ala)
n.6310A>C
Xg.77593796C>ACA413703099ATRXc.6010G>T (p.Asp2004Tyr)
c.1108G>T (p.Asp370Tyr)
c.5896G>T (p.Asp1966Tyr)
c.*5638G>T (n.*5638G>T)
c.494G>T
n.3080G>T
c.6007G>T (p.Asp2003Tyr)
c.5923G>T (p.Asp1975Tyr)
c.5893G>T (p.Asp1965Tyr)
c.5845G>T (p.Asp1949Tyr)
c.5806G>T (p.Asp1936Tyr)
c.5731G>T (p.Asp1911Tyr)
n.6352G>T
c.5920G>T (p.Asp1974Tyr)
c.5890G>T (p.Asp1964Tyr)
c.5842G>T (p.Asp1948Tyr)
c.5809G>T (p.Asp1937Tyr)
c.5779G>T (p.Asp1927Tyr)
c.5776G>T (p.Asp1926Tyr)
c.5728G>T (p.Asp1910Tyr)
c.5692G>T (p.Asp1898Tyr)
c.5689G>T (p.Asp1897Tyr)
c.5644G>T (p.Asp1882Tyr)
n.6309G>T
 COSMIC COSMIC
Xg.77593796C>GCA413703097ATRXc.6010G>C (p.Asp2004His)
c.1108G>C (p.Asp370His)
c.5896G>C (p.Asp1966His)
c.*5638G>C (n.*5638G>C)
c.494G>C
n.3080G>C
c.6007G>C (p.Asp2003His)
c.5923G>C (p.Asp1975His)
c.5893G>C (p.Asp1965His)
c.5845G>C (p.Asp1949His)
c.5806G>C (p.Asp1936His)
c.5731G>C (p.Asp1911His)
n.6352G>C
c.5920G>C (p.Asp1974His)
c.5890G>C (p.Asp1964His)
c.5842G>C (p.Asp1948His)
c.5809G>C (p.Asp1937His)
c.5779G>C (p.Asp1927His)
c.5776G>C (p.Asp1926His)
c.5728G>C (p.Asp1910His)
c.5692G>C (p.Asp1898His)
c.5689G>C (p.Asp1897His)
c.5644G>C (p.Asp1882His)
n.6309G>C
Xg.77593796C>TCA413703096ATRXc.6010G>A (p.Asp2004Asn)
c.1108G>A (p.Asp370Asn)
c.5896G>A (p.Asp1966Asn)
c.*5638G>A (n.*5638G>A)
c.494G>A
n.3080G>A
c.6007G>A (p.Asp2003Asn)
c.5923G>A (p.Asp1975Asn)
c.5893G>A (p.Asp1965Asn)
c.5845G>A (p.Asp1949Asn)
c.5806G>A (p.Asp1936Asn)
c.5731G>A (p.Asp1911Asn)
n.6352G>A
c.5920G>A (p.Asp1974Asn)
c.5890G>A (p.Asp1964Asn)
c.5842G>A (p.Asp1948Asn)
c.5809G>A (p.Asp1937Asn)
c.5779G>A (p.Asp1927Asn)
c.5776G>A (p.Asp1926Asn)
c.5728G>A (p.Asp1910Asn)
c.5692G>A (p.Asp1898Asn)
c.5689G>A (p.Asp1897Asn)
c.5644G>A (p.Asp1882Asn)
n.6309G>A
Xg.77593797T>ACA413703101ATRXc.6009A>T (p.Lys2003Asn)
c.1107A>T (p.Lys369Asn)
c.5895A>T (p.Lys1965Asn)
c.*5637A>T (n.*5637A>T)
c.493A>T
n.3079A>T
c.6006A>T (p.Lys2002Asn)
c.5922A>T (p.Lys1974Asn)
c.5892A>T (p.Lys1964Asn)
c.5844A>T (p.Lys1948Asn)
c.5805A>T (p.Lys1935Asn)
c.5730A>T (p.Lys1910Asn)
n.6351A>T
c.5919A>T (p.Lys1973Asn)
c.5889A>T (p.Lys1963Asn)
c.5841A>T (p.Lys1947Asn)
c.5808A>T (p.Lys1936Asn)
c.5778A>T (p.Lys1926Asn)
c.5775A>T (p.Lys1925Asn)
c.5727A>T (p.Lys1909Asn)
c.5691A>T (p.Lys1897Asn)
c.5688A>T (p.Lys1896Asn)
c.5643A>T (p.Lys1881Asn)
n.6308A>T
Xg.77593797T>CCA517375241ATRXc.6009A>G (p.Lys2003=)
c.1107A>G (p.Lys369=)
c.5895A>G (p.Lys1965=)
c.*5637A>G (n.*5637A>G)
c.493A>G
n.3079A>G
c.6006A>G (p.Lys2002=)
c.5922A>G (p.Lys1974=)
c.5892A>G (p.Lys1964=)
c.5844A>G (p.Lys1948=)
c.5805A>G (p.Lys1935=)
c.5730A>G (p.Lys1910=)
n.6351A>G
c.5919A>G (p.Lys1973=)
c.5889A>G (p.Lys1963=)
c.5841A>G (p.Lys1947=)
c.5808A>G (p.Lys1936=)
c.5778A>G (p.Lys1926=)
c.5775A>G (p.Lys1925=)
c.5727A>G (p.Lys1909=)
c.5691A>G (p.Lys1897=)
c.5688A>G (p.Lys1896=)
c.5643A>G (p.Lys1881=)
n.6308A>G
Xg.77593797T>GCA413703103ATRXc.6009A>C (p.Lys2003Asn)
c.1107A>C (p.Lys369Asn)
c.5895A>C (p.Lys1965Asn)
c.*5637A>C (n.*5637A>C)
c.493A>C
n.3079A>C
c.6006A>C (p.Lys2002Asn)
c.5922A>C (p.Lys1974Asn)
c.5892A>C (p.Lys1964Asn)
c.5844A>C (p.Lys1948Asn)
c.5805A>C (p.Lys1935Asn)
c.5730A>C (p.Lys1910Asn)
n.6351A>C
c.5919A>C (p.Lys1973Asn)
c.5889A>C (p.Lys1963Asn)
c.5841A>C (p.Lys1947Asn)
c.5808A>C (p.Lys1936Asn)
c.5778A>C (p.Lys1926Asn)
c.5775A>C (p.Lys1925Asn)
c.5727A>C (p.Lys1909Asn)
c.5691A>C (p.Lys1897Asn)
c.5688A>C (p.Lys1896Asn)
c.5643A>C (p.Lys1881Asn)
n.6308A>C
Xg.77593798T>ACA413703105ATRXc.6008A>T (p.Lys2003Ile)
c.1106A>T (p.Lys369Ile)
c.5894A>T (p.Lys1965Ile)
c.*5636A>T (n.*5636A>T)
c.492A>T
n.3078A>T
c.6005A>T (p.Lys2002Ile)
c.5921A>T (p.Lys1974Ile)
c.5891A>T (p.Lys1964Ile)
c.5843A>T (p.Lys1948Ile)
c.5804A>T (p.Lys1935Ile)
c.5729A>T (p.Lys1910Ile)
n.6350A>T
c.5918A>T (p.Lys1973Ile)
c.5888A>T (p.Lys1963Ile)
c.5840A>T (p.Lys1947Ile)
c.5807A>T (p.Lys1936Ile)
c.5777A>T (p.Lys1926Ile)
c.5774A>T (p.Lys1925Ile)
c.5726A>T (p.Lys1909Ile)
c.5690A>T (p.Lys1897Ile)
c.5687A>T (p.Lys1896Ile)
c.5642A>T (p.Lys1881Ile)
n.6307A>T
Xg.77593798T>CCA413703107ATRXc.6008A>G (p.Lys2003Arg)
c.1106A>G (p.Lys369Arg)
c.5894A>G (p.Lys1965Arg)
c.*5636A>G (n.*5636A>G)
c.492A>G
n.3078A>G
c.6005A>G (p.Lys2002Arg)
c.5921A>G (p.Lys1974Arg)
c.5891A>G (p.Lys1964Arg)
c.5843A>G (p.Lys1948Arg)
c.5804A>G (p.Lys1935Arg)
c.5729A>G (p.Lys1910Arg)
n.6350A>G
c.5918A>G (p.Lys1973Arg)
c.5888A>G (p.Lys1963Arg)
c.5840A>G (p.Lys1947Arg)
c.5807A>G (p.Lys1936Arg)
c.5777A>G (p.Lys1926Arg)
c.5774A>G (p.Lys1925Arg)
c.5726A>G (p.Lys1909Arg)
c.5690A>G (p.Lys1897Arg)
c.5687A>G (p.Lys1896Arg)
c.5642A>G (p.Lys1881Arg)
n.6307A>G
 gnomAD v4
Xg.77593798T>GCA413703109ATRXc.6008A>C (p.Lys2003Thr)
c.1106A>C (p.Lys369Thr)
c.5894A>C (p.Lys1965Thr)
c.*5636A>C (n.*5636A>C)
c.492A>C
n.3078A>C
c.6005A>C (p.Lys2002Thr)
c.5921A>C (p.Lys1974Thr)
c.5891A>C (p.Lys1964Thr)
c.5843A>C (p.Lys1948Thr)
c.5804A>C (p.Lys1935Thr)
c.5729A>C (p.Lys1910Thr)
n.6350A>C
c.5918A>C (p.Lys1973Thr)
c.5888A>C (p.Lys1963Thr)
c.5840A>C (p.Lys1947Thr)
c.5807A>C (p.Lys1936Thr)
c.5777A>C (p.Lys1926Thr)
c.5774A>C (p.Lys1925Thr)
c.5726A>C (p.Lys1909Thr)
c.5690A>C (p.Lys1897Thr)
c.5687A>C (p.Lys1896Thr)
c.5642A>C (p.Lys1881Thr)
n.6307A>C
Xg.77593799T>ACA413703111ATRXc.6007A>T (p.Lys2003Ter)
c.1105A>T (p.Lys369Ter)
c.5893A>T (p.Lys1965Ter)
c.*5635A>T (n.*5635A>T)
c.491A>T
n.3077A>T
c.6004A>T (p.Lys2002Ter)
c.5920A>T (p.Lys1974Ter)
c.5890A>T (p.Lys1964Ter)
c.5842A>T (p.Lys1948Ter)
c.5803A>T (p.Lys1935Ter)
c.5728A>T (p.Lys1910Ter)
n.6349A>T
c.5917A>T (p.Lys1973Ter)
c.5887A>T (p.Lys1963Ter)
c.5839A>T (p.Lys1947Ter)
c.5806A>T (p.Lys1936Ter)
c.5776A>T (p.Lys1926Ter)
c.5773A>T (p.Lys1925Ter)
c.5725A>T (p.Lys1909Ter)
c.5689A>T (p.Lys1897Ter)
c.5686A>T (p.Lys1896Ter)
c.5641A>T (p.Lys1881Ter)
n.6306A>T
Xg.77593799T>CCA413703112ATRXc.6007A>G (p.Lys2003Glu)
c.1105A>G (p.Lys369Glu)
c.5893A>G (p.Lys1965Glu)
c.*5635A>G (n.*5635A>G)
c.491A>G
n.3077A>G
c.6004A>G (p.Lys2002Glu)
c.5920A>G (p.Lys1974Glu)
c.5890A>G (p.Lys1964Glu)
c.5842A>G (p.Lys1948Glu)
c.5803A>G (p.Lys1935Glu)
c.5728A>G (p.Lys1910Glu)
n.6349A>G
c.5917A>G (p.Lys1973Glu)
c.5887A>G (p.Lys1963Glu)
c.5839A>G (p.Lys1947Glu)
c.5806A>G (p.Lys1936Glu)
c.5776A>G (p.Lys1926Glu)
c.5773A>G (p.Lys1925Glu)
c.5725A>G (p.Lys1909Glu)
c.5689A>G (p.Lys1897Glu)
c.5686A>G (p.Lys1896Glu)
c.5641A>G (p.Lys1881Glu)
n.6306A>G
Xg.77593799T>GCA413703113ATRXc.6007A>C (p.Lys2003Gln)
c.1105A>C (p.Lys369Gln)
c.5893A>C (p.Lys1965Gln)
c.*5635A>C (n.*5635A>C)
c.491A>C
n.3077A>C
c.6004A>C (p.Lys2002Gln)
c.5920A>C (p.Lys1974Gln)
c.5890A>C (p.Lys1964Gln)
c.5842A>C (p.Lys1948Gln)
c.5803A>C (p.Lys1935Gln)
c.5728A>C (p.Lys1910Gln)
n.6349A>C
c.5917A>C (p.Lys1973Gln)
c.5887A>C (p.Lys1963Gln)
c.5839A>C (p.Lys1947Gln)
c.5806A>C (p.Lys1936Gln)
c.5776A>C (p.Lys1926Gln)
c.5773A>C (p.Lys1925Gln)
c.5725A>C (p.Lys1909Gln)
c.5689A>C (p.Lys1897Gln)
c.5686A>C (p.Lys1896Gln)
c.5641A>C (p.Lys1881Gln)
n.6306A>C
Xg.77593800G>ACA517375242ATRXc.6006C>T (p.Tyr2002=)
c.1104C>T (p.Tyr368=)
c.5892C>T (p.Tyr1964=)
c.*5634C>T (n.*5634C>T)
c.490C>T
n.3076C>T
c.6003C>T (p.Tyr2001=)
c.5919C>T (p.Tyr1973=)
c.5889C>T (p.Tyr1963=)
c.5841C>T (p.Tyr1947=)
c.5802C>T (p.Tyr1934=)
c.5727C>T (p.Tyr1909=)
n.6348C>T
c.5916C>T (p.Tyr1972=)
c.5886C>T (p.Tyr1962=)
c.5838C>T (p.Tyr1946=)
c.5805C>T (p.Tyr1935=)
c.5775C>T (p.Tyr1925=)
c.5772C>T (p.Tyr1924=)
c.5724C>T (p.Tyr1908=)
c.5688C>T (p.Tyr1896=)
c.5685C>T (p.Tyr1895=)
c.5640C>T (p.Tyr1880=)
n.6305C>T
Xg.77593800G>CCA413703115ATRXc.6006C>G (p.Tyr2002Ter)
c.1104C>G (p.Tyr368Ter)
c.5892C>G (p.Tyr1964Ter)
c.*5634C>G (n.*5634C>G)
c.490C>G
n.3076C>G
c.6003C>G (p.Tyr2001Ter)
c.5919C>G (p.Tyr1973Ter)
c.5889C>G (p.Tyr1963Ter)
c.5841C>G (p.Tyr1947Ter)
c.5802C>G (p.Tyr1934Ter)
c.5727C>G (p.Tyr1909Ter)
n.6348C>G
c.5916C>G (p.Tyr1972Ter)
c.5886C>G (p.Tyr1962Ter)
c.5838C>G (p.Tyr1946Ter)
c.5805C>G (p.Tyr1935Ter)
c.5775C>G (p.Tyr1925Ter)
c.5772C>G (p.Tyr1924Ter)
c.5724C>G (p.Tyr1908Ter)
c.5688C>G (p.Tyr1896Ter)
c.5685C>G (p.Tyr1895Ter)
c.5640C>G (p.Tyr1880Ter)
n.6305C>G
Xg.77593800G>TCA413703116ATRXc.6006C>A (p.Tyr2002Ter)
c.1104C>A (p.Tyr368Ter)
c.5892C>A (p.Tyr1964Ter)
c.*5634C>A (n.*5634C>A)
c.490C>A
n.3076C>A
c.6003C>A (p.Tyr2001Ter)
c.5919C>A (p.Tyr1973Ter)
c.5889C>A (p.Tyr1963Ter)
c.5841C>A (p.Tyr1947Ter)
c.5802C>A (p.Tyr1934Ter)
c.5727C>A (p.Tyr1909Ter)
n.6348C>A
c.5916C>A (p.Tyr1972Ter)
c.5886C>A (p.Tyr1962Ter)
c.5838C>A (p.Tyr1946Ter)
c.5805C>A (p.Tyr1935Ter)
c.5775C>A (p.Tyr1925Ter)
c.5772C>A (p.Tyr1924Ter)
c.5724C>A (p.Tyr1908Ter)
c.5688C>A (p.Tyr1896Ter)
c.5685C>A (p.Tyr1895Ter)
c.5640C>A (p.Tyr1880Ter)
n.6305C>A
Xg.77593801T>ACA413703117ATRXc.6005A>T (p.Tyr2002Phe)
c.1103A>T (p.Tyr368Phe)
c.5891A>T (p.Tyr1964Phe)
c.*5633A>T (n.*5633A>T)
c.489A>T
n.3075A>T
c.6002A>T (p.Tyr2001Phe)
c.5918A>T (p.Tyr1973Phe)
c.5888A>T (p.Tyr1963Phe)
c.5840A>T (p.Tyr1947Phe)
c.5801A>T (p.Tyr1934Phe)
c.5726A>T (p.Tyr1909Phe)
n.6347A>T
c.5915A>T (p.Tyr1972Phe)
c.5885A>T (p.Tyr1962Phe)
c.5837A>T (p.Tyr1946Phe)
c.5804A>T (p.Tyr1935Phe)
c.5774A>T (p.Tyr1925Phe)
c.5771A>T (p.Tyr1924Phe)
c.5723A>T (p.Tyr1908Phe)
c.5687A>T (p.Tyr1896Phe)
c.5684A>T (p.Tyr1895Phe)
c.5639A>T (p.Tyr1880Phe)
n.6304A>T
Xg.77593801T>CCA413703119ATRXc.6005A>G (p.Tyr2002Cys)
c.1103A>G (p.Tyr368Cys)
c.5891A>G (p.Tyr1964Cys)
c.*5633A>G (n.*5633A>G)
c.489A>G
n.3075A>G
c.6002A>G (p.Tyr2001Cys)
c.5918A>G (p.Tyr1973Cys)
c.5888A>G (p.Tyr1963Cys)
c.5840A>G (p.Tyr1947Cys)
c.5801A>G (p.Tyr1934Cys)
c.5726A>G (p.Tyr1909Cys)
n.6347A>G
c.5915A>G (p.Tyr1972Cys)
c.5885A>G (p.Tyr1962Cys)
c.5837A>G (p.Tyr1946Cys)
c.5804A>G (p.Tyr1935Cys)
c.5774A>G (p.Tyr1925Cys)
c.5771A>G (p.Tyr1924Cys)
c.5723A>G (p.Tyr1908Cys)
c.5687A>G (p.Tyr1896Cys)
c.5684A>G (p.Tyr1895Cys)
c.5639A>G (p.Tyr1880Cys)
n.6304A>G
Xg.77593801T>GCA413703120ATRXc.6005A>C (p.Tyr2002Ser)
c.1103A>C (p.Tyr368Ser)
c.5891A>C (p.Tyr1964Ser)
c.*5633A>C (n.*5633A>C)
c.489A>C
n.3075A>C
c.6002A>C (p.Tyr2001Ser)
c.5918A>C (p.Tyr1973Ser)
c.5888A>C (p.Tyr1963Ser)
c.5840A>C (p.Tyr1947Ser)
c.5801A>C (p.Tyr1934Ser)
c.5726A>C (p.Tyr1909Ser)
n.6347A>C
c.5915A>C (p.Tyr1972Ser)
c.5885A>C (p.Tyr1962Ser)
c.5837A>C (p.Tyr1946Ser)
c.5804A>C (p.Tyr1935Ser)
c.5774A>C (p.Tyr1925Ser)
c.5771A>C (p.Tyr1924Ser)
c.5723A>C (p.Tyr1908Ser)
c.5687A>C (p.Tyr1896Ser)
c.5684A>C (p.Tyr1895Ser)
c.5639A>C (p.Tyr1880Ser)
n.6304A>C
Xg.77593802A>CCA413703122ATRXc.6004T>G (p.Tyr2002Asp)
c.1102T>G (p.Tyr368Asp)
c.5890T>G (p.Tyr1964Asp)
c.*5632T>G (n.*5632T>G)
c.488T>G
n.3074T>G
c.6001T>G (p.Tyr2001Asp)
c.5917T>G (p.Tyr1973Asp)
c.5887T>G (p.Tyr1963Asp)
c.5839T>G (p.Tyr1947Asp)
c.5800T>G (p.Tyr1934Asp)
c.5725T>G (p.Tyr1909Asp)
n.6346T>G
c.5914T>G (p.Tyr1972Asp)
c.5884T>G (p.Tyr1962Asp)
c.5836T>G (p.Tyr1946Asp)
c.5803T>G (p.Tyr1935Asp)
c.5773T>G (p.Tyr1925Asp)
c.5770T>G (p.Tyr1924Asp)
c.5722T>G (p.Tyr1908Asp)
c.5686T>G (p.Tyr1896Asp)
c.5683T>G (p.Tyr1895Asp)
c.5638T>G (p.Tyr1880Asp)
n.6303T>G
Xg.77593802A>GCA413703123ATRXc.6004T>C (p.Tyr2002His)
c.1102T>C (p.Tyr368His)
c.5890T>C (p.Tyr1964His)
c.*5632T>C (n.*5632T>C)
c.488T>C
n.3074T>C
c.6001T>C (p.Tyr2001His)
c.5917T>C (p.Tyr1973His)
c.5887T>C (p.Tyr1963His)
c.5839T>C (p.Tyr1947His)
c.5800T>C (p.Tyr1934His)
c.5725T>C (p.Tyr1909His)
n.6346T>C
c.5914T>C (p.Tyr1972His)
c.5884T>C (p.Tyr1962His)
c.5836T>C (p.Tyr1946His)
c.5803T>C (p.Tyr1935His)
c.5773T>C (p.Tyr1925His)
c.5770T>C (p.Tyr1924His)
c.5722T>C (p.Tyr1908His)
c.5686T>C (p.Tyr1896His)
c.5683T>C (p.Tyr1895His)
c.5638T>C (p.Tyr1880His)
n.6303T>C
Xg.77593802A>TCA413703121ATRXc.6004T>A (p.Tyr2002Asn)
c.1102T>A (p.Tyr368Asn)
c.5890T>A (p.Tyr1964Asn)
c.*5632T>A (n.*5632T>A)
c.488T>A
n.3074T>A
c.6001T>A (p.Tyr2001Asn)
c.5917T>A (p.Tyr1973Asn)
c.5887T>A (p.Tyr1963Asn)
c.5839T>A (p.Tyr1947Asn)
c.5800T>A (p.Tyr1934Asn)
c.5725T>A (p.Tyr1909Asn)
n.6346T>A
c.5914T>A (p.Tyr1972Asn)
c.5884T>A (p.Tyr1962Asn)
c.5836T>A (p.Tyr1946Asn)
c.5803T>A (p.Tyr1935Asn)
c.5773T>A (p.Tyr1925Asn)
c.5770T>A (p.Tyr1924Asn)
c.5722T>A (p.Tyr1908Asn)
c.5686T>A (p.Tyr1896Asn)
c.5683T>A (p.Tyr1895Asn)
c.5638T>A (p.Tyr1880Asn)
n.6303T>A

Number of alleles fetched