Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77574281C>ACA413700962ATRXc.6295G>T (p.Ala2099Ser)
c.1393G>T (p.Ala465Ser)
c.6181G>T (p.Ala2061Ser)
c.*5923G>T (n.*5923G>T)
c.779G>T
n.3365G>T
c.6292G>T (p.Ala2098Ser)
c.6208G>T (p.Ala2070Ser)
c.6178G>T (p.Ala2060Ser)
c.6130G>T (p.Ala2044Ser)
c.6091G>T (p.Ala2031Ser)
c.6016G>T (p.Ala2006Ser)
n.6637G>T
c.6205G>T (p.Ala2069Ser)
c.6175G>T (p.Ala2059Ser)
c.6127G>T (p.Ala2043Ser)
c.6094G>T (p.Ala2032Ser)
c.6064G>T (p.Ala2022Ser)
c.6061G>T (p.Ala2021Ser)
c.6013G>T (p.Ala2005Ser)
c.5977G>T (p.Ala1993Ser)
c.5974G>T (p.Ala1992Ser)
c.5929G>T (p.Ala1977Ser)
n.6594G>T
Xg.77574281C>GCA413700963ATRXc.6295G>C (p.Ala2099Pro)
c.1393G>C (p.Ala465Pro)
c.6181G>C (p.Ala2061Pro)
c.*5923G>C (n.*5923G>C)
c.779G>C
n.3365G>C
c.6292G>C (p.Ala2098Pro)
c.6208G>C (p.Ala2070Pro)
c.6178G>C (p.Ala2060Pro)
c.6130G>C (p.Ala2044Pro)
c.6091G>C (p.Ala2031Pro)
c.6016G>C (p.Ala2006Pro)
n.6637G>C
c.6205G>C (p.Ala2069Pro)
c.6175G>C (p.Ala2059Pro)
c.6127G>C (p.Ala2043Pro)
c.6094G>C (p.Ala2032Pro)
c.6064G>C (p.Ala2022Pro)
c.6061G>C (p.Ala2021Pro)
c.6013G>C (p.Ala2005Pro)
c.5977G>C (p.Ala1993Pro)
c.5974G>C (p.Ala1992Pro)
c.5929G>C (p.Ala1977Pro)
n.6594G>C
Xg.77574281C>TCA413700965ATRXc.6295G>A (p.Ala2099Thr)
c.1393G>A (p.Ala465Thr)
c.6181G>A (p.Ala2061Thr)
c.*5923G>A (n.*5923G>A)
c.779G>A
n.3365G>A
c.6292G>A (p.Ala2098Thr)
c.6208G>A (p.Ala2070Thr)
c.6178G>A (p.Ala2060Thr)
c.6130G>A (p.Ala2044Thr)
c.6091G>A (p.Ala2031Thr)
c.6016G>A (p.Ala2006Thr)
n.6637G>A
c.6205G>A (p.Ala2069Thr)
c.6175G>A (p.Ala2059Thr)
c.6127G>A (p.Ala2043Thr)
c.6094G>A (p.Ala2032Thr)
c.6064G>A (p.Ala2022Thr)
c.6061G>A (p.Ala2021Thr)
c.6013G>A (p.Ala2005Thr)
c.5977G>A (p.Ala1993Thr)
c.5974G>A (p.Ala1992Thr)
c.5929G>A (p.Ala1977Thr)
n.6594G>A
Xg.77574283delCA2579648813ATRXc.6295del (p.Ala2099LeufsTer10)
c.1393del (p.Ala465LeufsTer10)
c.6181del (p.Ala2061LeufsTer10)
c.*5923del (n.*5923del)
c.779del
n.3365del
c.6292del (p.Ala2098LeufsTer10)
c.6208del (p.Ala2070LeufsTer10)
c.6178del (p.Ala2060LeufsTer10)
c.6130del (p.Ala2044LeufsTer10)
c.6091del (p.Ala2031LeufsTer10)
c.6016del (p.Ala2006LeufsTer10)
n.6637del
c.6205del (p.Ala2069LeufsTer10)
c.6175del (p.Ala2059LeufsTer10)
c.6127del (p.Ala2043LeufsTer10)
c.6094del (p.Ala2032LeufsTer10)
c.6064del (p.Ala2022LeufsTer10)
c.6061del (p.Ala2021LeufsTer10)
c.6013del (p.Ala2005LeufsTer10)
c.5977del (p.Ala1993LeufsTer10)
c.5974del (p.Ala1992LeufsTer10)
c.5929del (p.Ala1977LeufsTer10)
n.6594del
Xg.77574281_77574286delCA2508486568ATRXc.6290_6295del (p.Lys2097_Ala2099delinsThr)
c.1388_1393del (p.Lys463_Ala465delinsThr)
c.6176_6181del (p.Lys2059_Ala2061delinsThr)
c.*5918_*5923del (n.*5918_*5923del)
c.774_779del
n.3360_3365del
c.6287_6292del (p.Lys2096_Ala2098delinsThr)
c.6203_6208del (p.Lys2068_Ala2070delinsThr)
c.6173_6178del (p.Lys2058_Ala2060delinsThr)
c.6125_6130del (p.Lys2042_Ala2044delinsThr)
c.6086_6091del (p.Lys2029_Ala2031delinsThr)
c.6011_6016del (p.Lys2004_Ala2006delinsThr)
n.6632_6637del
c.6200_6205del (p.Lys2067_Ala2069delinsThr)
c.6170_6175del (p.Lys2057_Ala2059delinsThr)
c.6122_6127del (p.Lys2041_Ala2043delinsThr)
c.6089_6094del (p.Lys2030_Ala2032delinsThr)
c.6059_6064del (p.Lys2020_Ala2022delinsThr)
c.6056_6061del (p.Lys2019_Ala2021delinsThr)
c.6008_6013del (p.Lys2003_Ala2005delinsThr)
c.5972_5977del (p.Lys1991_Ala1993delinsThr)
c.5969_5974del (p.Lys1990_Ala1992delinsThr)
c.5924_5929del (p.Lys1975_Ala1977delinsThr)
n.6589_6594del
Xg.77574282C>ACA413700967ATRXc.6294G>T (p.Trp2098Cys)
c.1392G>T (p.Trp464Cys)
c.6180G>T (p.Trp2060Cys)
c.*5922G>T (n.*5922G>T)
c.778G>T
n.3364G>T
c.6291G>T (p.Trp2097Cys)
c.6207G>T (p.Trp2069Cys)
c.6177G>T (p.Trp2059Cys)
c.6129G>T (p.Trp2043Cys)
c.6090G>T (p.Trp2030Cys)
c.6015G>T (p.Trp2005Cys)
n.6636G>T
c.6204G>T (p.Trp2068Cys)
c.6174G>T (p.Trp2058Cys)
c.6126G>T (p.Trp2042Cys)
c.6093G>T (p.Trp2031Cys)
c.6063G>T (p.Trp2021Cys)
c.6060G>T (p.Trp2020Cys)
c.6012G>T (p.Trp2004Cys)
c.5976G>T (p.Trp1992Cys)
c.5973G>T (p.Trp1991Cys)
c.5928G>T (p.Trp1976Cys)
n.6593G>T
Xg.77574282C>GCA413700971ATRXc.6294G>C (p.Trp2098Cys)
c.1392G>C (p.Trp464Cys)
c.6180G>C (p.Trp2060Cys)
c.*5922G>C (n.*5922G>C)
c.778G>C
n.3364G>C
c.6291G>C (p.Trp2097Cys)
c.6207G>C (p.Trp2069Cys)
c.6177G>C (p.Trp2059Cys)
c.6129G>C (p.Trp2043Cys)
c.6090G>C (p.Trp2030Cys)
c.6015G>C (p.Trp2005Cys)
n.6636G>C
c.6204G>C (p.Trp2068Cys)
c.6174G>C (p.Trp2058Cys)
c.6126G>C (p.Trp2042Cys)
c.6093G>C (p.Trp2031Cys)
c.6063G>C (p.Trp2021Cys)
c.6060G>C (p.Trp2020Cys)
c.6012G>C (p.Trp2004Cys)
c.5976G>C (p.Trp1992Cys)
c.5973G>C (p.Trp1991Cys)
c.5928G>C (p.Trp1976Cys)
n.6593G>C
Xg.77574282C>TCA413700969ATRXc.6294G>A (p.Trp2098Ter)
c.1392G>A (p.Trp464Ter)
c.6180G>A (p.Trp2060Ter)
c.*5922G>A (n.*5922G>A)
c.778G>A
n.3364G>A
c.6291G>A (p.Trp2097Ter)
c.6207G>A (p.Trp2069Ter)
c.6177G>A (p.Trp2059Ter)
c.6129G>A (p.Trp2043Ter)
c.6090G>A (p.Trp2030Ter)
c.6015G>A (p.Trp2005Ter)
n.6636G>A
c.6204G>A (p.Trp2068Ter)
c.6174G>A (p.Trp2058Ter)
c.6126G>A (p.Trp2042Ter)
c.6093G>A (p.Trp2031Ter)
c.6063G>A (p.Trp2021Ter)
c.6060G>A (p.Trp2020Ter)
c.6012G>A (p.Trp2004Ter)
c.5976G>A (p.Trp1992Ter)
c.5973G>A (p.Trp1991Ter)
c.5928G>A (p.Trp1976Ter)
n.6593G>A
Xg.77574283C>ACA413700973ATRXc.6293G>T (p.Trp2098Leu)
c.1391G>T (p.Trp464Leu)
c.6179G>T (p.Trp2060Leu)
c.*5921G>T (n.*5921G>T)
c.777G>T
n.3363G>T
c.6290G>T (p.Trp2097Leu)
c.6206G>T (p.Trp2069Leu)
c.6176G>T (p.Trp2059Leu)
c.6128G>T (p.Trp2043Leu)
c.6089G>T (p.Trp2030Leu)
c.6014G>T (p.Trp2005Leu)
n.6635G>T
c.6203G>T (p.Trp2068Leu)
c.6173G>T (p.Trp2058Leu)
c.6125G>T (p.Trp2042Leu)
c.6092G>T (p.Trp2031Leu)
c.6062G>T (p.Trp2021Leu)
c.6059G>T (p.Trp2020Leu)
c.6011G>T (p.Trp2004Leu)
c.5975G>T (p.Trp1992Leu)
c.5972G>T (p.Trp1991Leu)
c.5927G>T (p.Trp1976Leu)
n.6592G>T
Xg.77574283C>GCA413700975ATRXc.6293G>C (p.Trp2098Ser)
c.1391G>C (p.Trp464Ser)
c.6179G>C (p.Trp2060Ser)
c.*5921G>C (n.*5921G>C)
c.777G>C
n.3363G>C
c.6290G>C (p.Trp2097Ser)
c.6206G>C (p.Trp2069Ser)
c.6176G>C (p.Trp2059Ser)
c.6128G>C (p.Trp2043Ser)
c.6089G>C (p.Trp2030Ser)
c.6014G>C (p.Trp2005Ser)
n.6635G>C
c.6203G>C (p.Trp2068Ser)
c.6173G>C (p.Trp2058Ser)
c.6125G>C (p.Trp2042Ser)
c.6092G>C (p.Trp2031Ser)
c.6062G>C (p.Trp2021Ser)
c.6059G>C (p.Trp2020Ser)
c.6011G>C (p.Trp2004Ser)
c.5975G>C (p.Trp1992Ser)
c.5972G>C (p.Trp1991Ser)
c.5927G>C (p.Trp1976Ser)
n.6592G>C
Xg.77574283C>TCA413700977ATRXc.6293G>A (p.Trp2098Ter)
c.1391G>A (p.Trp464Ter)
c.6179G>A (p.Trp2060Ter)
c.*5921G>A (n.*5921G>A)
c.777G>A
n.3363G>A
c.6290G>A (p.Trp2097Ter)
c.6206G>A (p.Trp2069Ter)
c.6176G>A (p.Trp2059Ter)
c.6128G>A (p.Trp2043Ter)
c.6089G>A (p.Trp2030Ter)
c.6014G>A (p.Trp2005Ter)
n.6635G>A
c.6203G>A (p.Trp2068Ter)
c.6173G>A (p.Trp2058Ter)
c.6125G>A (p.Trp2042Ter)
c.6092G>A (p.Trp2031Ter)
c.6062G>A (p.Trp2021Ter)
c.6059G>A (p.Trp2020Ter)
c.6011G>A (p.Trp2004Ter)
c.5975G>A (p.Trp1992Ter)
c.5972G>A (p.Trp1991Ter)
c.5927G>A (p.Trp1976Ter)
n.6592G>A
 gnomAD v4
Xg.77574284A>CCA413700979ATRXc.6292T>G (p.Trp2098Gly)
c.1390T>G (p.Trp464Gly)
c.6178T>G (p.Trp2060Gly)
c.*5920T>G (n.*5920T>G)
c.776T>G
n.3362T>G
c.6289T>G (p.Trp2097Gly)
c.6205T>G (p.Trp2069Gly)
c.6175T>G (p.Trp2059Gly)
c.6127T>G (p.Trp2043Gly)
c.6088T>G (p.Trp2030Gly)
c.6013T>G (p.Trp2005Gly)
n.6634T>G
c.6202T>G (p.Trp2068Gly)
c.6172T>G (p.Trp2058Gly)
c.6124T>G (p.Trp2042Gly)
c.6091T>G (p.Trp2031Gly)
c.6061T>G (p.Trp2021Gly)
c.6058T>G (p.Trp2020Gly)
c.6010T>G (p.Trp2004Gly)
c.5974T>G (p.Trp1992Gly)
c.5971T>G (p.Trp1991Gly)
c.5926T>G (p.Trp1976Gly)
n.6591T>G
Xg.77574284A>GCA413700981ATRXc.6292T>C (p.Trp2098Arg)
c.1390T>C (p.Trp464Arg)
c.6178T>C (p.Trp2060Arg)
c.*5920T>C (n.*5920T>C)
c.776T>C
n.3362T>C
c.6289T>C (p.Trp2097Arg)
c.6205T>C (p.Trp2069Arg)
c.6175T>C (p.Trp2059Arg)
c.6127T>C (p.Trp2043Arg)
c.6088T>C (p.Trp2030Arg)
c.6013T>C (p.Trp2005Arg)
n.6634T>C
c.6202T>C (p.Trp2068Arg)
c.6172T>C (p.Trp2058Arg)
c.6124T>C (p.Trp2042Arg)
c.6091T>C (p.Trp2031Arg)
c.6061T>C (p.Trp2021Arg)
c.6058T>C (p.Trp2020Arg)
c.6010T>C (p.Trp2004Arg)
c.5974T>C (p.Trp1992Arg)
c.5971T>C (p.Trp1991Arg)
c.5926T>C (p.Trp1976Arg)
n.6591T>C
Xg.77574284A>TCA413700983ATRXc.6292T>A (p.Trp2098Arg)
c.1390T>A (p.Trp464Arg)
c.6178T>A (p.Trp2060Arg)
c.*5920T>A (n.*5920T>A)
c.776T>A
n.3362T>A
c.6289T>A (p.Trp2097Arg)
c.6205T>A (p.Trp2069Arg)
c.6175T>A (p.Trp2059Arg)
c.6127T>A (p.Trp2043Arg)
c.6088T>A (p.Trp2030Arg)
c.6013T>A (p.Trp2005Arg)
n.6634T>A
c.6202T>A (p.Trp2068Arg)
c.6172T>A (p.Trp2058Arg)
c.6124T>A (p.Trp2042Arg)
c.6091T>A (p.Trp2031Arg)
c.6061T>A (p.Trp2021Arg)
c.6058T>A (p.Trp2020Arg)
c.6010T>A (p.Trp2004Arg)
c.5974T>A (p.Trp1992Arg)
c.5971T>A (p.Trp1991Arg)
c.5926T>A (p.Trp1976Arg)
n.6591T>A
Xg.77574285C>ACA413700985ATRXc.6291G>T (p.Lys2097Asn)
c.1389G>T (p.Lys463Asn)
c.6177G>T (p.Lys2059Asn)
c.*5919G>T (n.*5919G>T)
c.775G>T
n.3361G>T
c.6288G>T (p.Lys2096Asn)
c.6204G>T (p.Lys2068Asn)
c.6174G>T (p.Lys2058Asn)
c.6126G>T (p.Lys2042Asn)
c.6087G>T (p.Lys2029Asn)
c.6012G>T (p.Lys2004Asn)
n.6633G>T
c.6201G>T (p.Lys2067Asn)
c.6171G>T (p.Lys2057Asn)
c.6123G>T (p.Lys2041Asn)
c.6090G>T (p.Lys2030Asn)
c.6060G>T (p.Lys2020Asn)
c.6057G>T (p.Lys2019Asn)
c.6009G>T (p.Lys2003Asn)
c.5973G>T (p.Lys1991Asn)
c.5970G>T (p.Lys1990Asn)
c.5925G>T (p.Lys1975Asn)
n.6590G>T
Xg.77574285C=CA2438951394ATRXc.6291G= (p.Lys2097=)
c.1389G= (p.Lys463=)
c.6177G= (p.Lys2059=)
c.*5919G= (n.*5919G=)
c.775G=
n.3361G=
c.6288G= (p.Lys2096=)
c.6204G= (p.Lys2068=)
c.6174G= (p.Lys2058=)
c.6126G= (p.Lys2042=)
c.6087G= (p.Lys2029=)
c.6012G= (p.Lys2004=)
n.6633G=
c.6201G= (p.Lys2067=)
c.6171G= (p.Lys2057=)
c.6123G= (p.Lys2041=)
c.6090G= (p.Lys2030=)
c.6060G= (p.Lys2020=)
c.6057G= (p.Lys2019=)
c.6009G= (p.Lys2003=)
c.5973G= (p.Lys1991=)
c.5970G= (p.Lys1990=)
c.5925G= (p.Lys1975=)
n.6590G=
Xg.77574285C>GCA413700987ATRXc.6291G>C (p.Lys2097Asn)
c.1389G>C (p.Lys463Asn)
c.6177G>C (p.Lys2059Asn)
c.*5919G>C (n.*5919G>C)
c.775G>C
n.3361G>C
c.6288G>C (p.Lys2096Asn)
c.6204G>C (p.Lys2068Asn)
c.6174G>C (p.Lys2058Asn)
c.6126G>C (p.Lys2042Asn)
c.6087G>C (p.Lys2029Asn)
c.6012G>C (p.Lys2004Asn)
n.6633G>C
c.6201G>C (p.Lys2067Asn)
c.6171G>C (p.Lys2057Asn)
c.6123G>C (p.Lys2041Asn)
c.6090G>C (p.Lys2030Asn)
c.6060G>C (p.Lys2020Asn)
c.6057G>C (p.Lys2019Asn)
c.6009G>C (p.Lys2003Asn)
c.5973G>C (p.Lys1991Asn)
c.5970G>C (p.Lys1990Asn)
c.5925G>C (p.Lys1975Asn)
n.6590G>C
 dbSNP
Xg.77574285C>TCA517374764ATRXc.6291G>A (p.Lys2097=)
c.1389G>A (p.Lys463=)
c.6177G>A (p.Lys2059=)
c.*5919G>A (n.*5919G>A)
c.775G>A
n.3361G>A
c.6288G>A (p.Lys2096=)
c.6204G>A (p.Lys2068=)
c.6174G>A (p.Lys2058=)
c.6126G>A (p.Lys2042=)
c.6087G>A (p.Lys2029=)
c.6012G>A (p.Lys2004=)
n.6633G>A
c.6201G>A (p.Lys2067=)
c.6171G>A (p.Lys2057=)
c.6123G>A (p.Lys2041=)
c.6090G>A (p.Lys2030=)
c.6060G>A (p.Lys2020=)
c.6057G>A (p.Lys2019=)
c.6009G>A (p.Lys2003=)
c.5973G>A (p.Lys1991=)
c.5970G>A (p.Lys1990=)
c.5925G>A (p.Lys1975=)
n.6590G>A
Xg.77574286T>ACA413700989ATRXc.6290A>T (p.Lys2097Met)
c.1388A>T (p.Lys463Met)
c.6176A>T (p.Lys2059Met)
c.*5918A>T (n.*5918A>T)
c.774A>T
n.3360A>T
c.6287A>T (p.Lys2096Met)
c.6203A>T (p.Lys2068Met)
c.6173A>T (p.Lys2058Met)
c.6125A>T (p.Lys2042Met)
c.6086A>T (p.Lys2029Met)
c.6011A>T (p.Lys2004Met)
n.6632A>T
c.6200A>T (p.Lys2067Met)
c.6170A>T (p.Lys2057Met)
c.6122A>T (p.Lys2041Met)
c.6089A>T (p.Lys2030Met)
c.6059A>T (p.Lys2020Met)
c.6056A>T (p.Lys2019Met)
c.6008A>T (p.Lys2003Met)
c.5972A>T (p.Lys1991Met)
c.5969A>T (p.Lys1990Met)
c.5924A>T (p.Lys1975Met)
n.6589A>T
Xg.77574286T>CCA413700991ATRXc.6290A>G (p.Lys2097Arg)
c.1388A>G (p.Lys463Arg)
c.6176A>G (p.Lys2059Arg)
c.*5918A>G (n.*5918A>G)
c.774A>G
n.3360A>G
c.6287A>G (p.Lys2096Arg)
c.6203A>G (p.Lys2068Arg)
c.6173A>G (p.Lys2058Arg)
c.6125A>G (p.Lys2042Arg)
c.6086A>G (p.Lys2029Arg)
c.6011A>G (p.Lys2004Arg)
n.6632A>G
c.6200A>G (p.Lys2067Arg)
c.6170A>G (p.Lys2057Arg)
c.6122A>G (p.Lys2041Arg)
c.6089A>G (p.Lys2030Arg)
c.6059A>G (p.Lys2020Arg)
c.6056A>G (p.Lys2019Arg)
c.6008A>G (p.Lys2003Arg)
c.5972A>G (p.Lys1991Arg)
c.5969A>G (p.Lys1990Arg)
c.5924A>G (p.Lys1975Arg)
n.6589A>G
Xg.77574286T>GCA413700993ATRXc.6290A>C (p.Lys2097Thr)
c.1388A>C (p.Lys463Thr)
c.6176A>C (p.Lys2059Thr)
c.*5918A>C (n.*5918A>C)
c.774A>C
n.3360A>C
c.6287A>C (p.Lys2096Thr)
c.6203A>C (p.Lys2068Thr)
c.6173A>C (p.Lys2058Thr)
c.6125A>C (p.Lys2042Thr)
c.6086A>C (p.Lys2029Thr)
c.6011A>C (p.Lys2004Thr)
n.6632A>C
c.6200A>C (p.Lys2067Thr)
c.6170A>C (p.Lys2057Thr)
c.6122A>C (p.Lys2041Thr)
c.6089A>C (p.Lys2030Thr)
c.6059A>C (p.Lys2020Thr)
c.6056A>C (p.Lys2019Thr)
c.6008A>C (p.Lys2003Thr)
c.5972A>C (p.Lys1991Thr)
c.5969A>C (p.Lys1990Thr)
c.5924A>C (p.Lys1975Thr)
n.6589A>C
Xg.77574287T>ACA413700996ATRXc.6289A>T (p.Lys2097Ter)
c.1387A>T (p.Lys463Ter)
c.6175A>T (p.Lys2059Ter)
c.*5917A>T (n.*5917A>T)
c.773A>T
n.3359A>T
c.6286A>T (p.Lys2096Ter)
c.6202A>T (p.Lys2068Ter)
c.6172A>T (p.Lys2058Ter)
c.6124A>T (p.Lys2042Ter)
c.6085A>T (p.Lys2029Ter)
c.6010A>T (p.Lys2004Ter)
n.6631A>T
c.6199A>T (p.Lys2067Ter)
c.6169A>T (p.Lys2057Ter)
c.6121A>T (p.Lys2041Ter)
c.6088A>T (p.Lys2030Ter)
c.6058A>T (p.Lys2020Ter)
c.6055A>T (p.Lys2019Ter)
c.6007A>T (p.Lys2003Ter)
c.5971A>T (p.Lys1991Ter)
c.5968A>T (p.Lys1990Ter)
c.5923A>T (p.Lys1975Ter)
n.6588A>T
Xg.77574287T>CCA413701007ATRXc.6289A>G (p.Lys2097Glu)
c.1387A>G (p.Lys463Glu)
c.6175A>G (p.Lys2059Glu)
c.*5917A>G (n.*5917A>G)
c.773A>G
n.3359A>G
c.6286A>G (p.Lys2096Glu)
c.6202A>G (p.Lys2068Glu)
c.6172A>G (p.Lys2058Glu)
c.6124A>G (p.Lys2042Glu)
c.6085A>G (p.Lys2029Glu)
c.6010A>G (p.Lys2004Glu)
n.6631A>G
c.6199A>G (p.Lys2067Glu)
c.6169A>G (p.Lys2057Glu)
c.6121A>G (p.Lys2041Glu)
c.6088A>G (p.Lys2030Glu)
c.6058A>G (p.Lys2020Glu)
c.6055A>G (p.Lys2019Glu)
c.6007A>G (p.Lys2003Glu)
c.5971A>G (p.Lys1991Glu)
c.5968A>G (p.Lys1990Glu)
c.5923A>G (p.Lys1975Glu)
n.6588A>G
Xg.77574287T>GCA413700995ATRXc.6289A>C (p.Lys2097Gln)
c.1387A>C (p.Lys463Gln)
c.6175A>C (p.Lys2059Gln)
c.*5917A>C (n.*5917A>C)
c.773A>C
n.3359A>C
c.6286A>C (p.Lys2096Gln)
c.6202A>C (p.Lys2068Gln)
c.6172A>C (p.Lys2058Gln)
c.6124A>C (p.Lys2042Gln)
c.6085A>C (p.Lys2029Gln)
c.6010A>C (p.Lys2004Gln)
n.6631A>C
c.6199A>C (p.Lys2067Gln)
c.6169A>C (p.Lys2057Gln)
c.6121A>C (p.Lys2041Gln)
c.6088A>C (p.Lys2030Gln)
c.6058A>C (p.Lys2020Gln)
c.6055A>C (p.Lys2019Gln)
c.6007A>C (p.Lys2003Gln)
c.5971A>C (p.Lys1991Gln)
c.5968A>C (p.Lys1990Gln)
c.5923A>C (p.Lys1975Gln)
n.6588A>C
Xg.77574288C>ACA413701011ATRXc.6288G>T (p.Lys2096Asn)
c.1386G>T (p.Lys462Asn)
c.6174G>T (p.Lys2058Asn)
c.*5916G>T (n.*5916G>T)
c.772G>T
n.3358G>T
c.6285G>T (p.Lys2095Asn)
c.6201G>T (p.Lys2067Asn)
c.6171G>T (p.Lys2057Asn)
c.6123G>T (p.Lys2041Asn)
c.6084G>T (p.Lys2028Asn)
c.6009G>T (p.Lys2003Asn)
n.6630G>T
c.6198G>T (p.Lys2066Asn)
c.6168G>T (p.Lys2056Asn)
c.6120G>T (p.Lys2040Asn)
c.6087G>T (p.Lys2029Asn)
c.6057G>T (p.Lys2019Asn)
c.6054G>T (p.Lys2018Asn)
c.6006G>T (p.Lys2002Asn)
c.5970G>T (p.Lys1990Asn)
c.5967G>T (p.Lys1989Asn)
c.5922G>T (p.Lys1974Asn)
n.6587G>T
 COSMIC COSMIC
Xg.77574288C>GCA413701010ATRXc.6288G>C (p.Lys2096Asn)
c.1386G>C (p.Lys462Asn)
c.6174G>C (p.Lys2058Asn)
c.*5916G>C (n.*5916G>C)
c.772G>C
n.3358G>C
c.6285G>C (p.Lys2095Asn)
c.6201G>C (p.Lys2067Asn)
c.6171G>C (p.Lys2057Asn)
c.6123G>C (p.Lys2041Asn)
c.6084G>C (p.Lys2028Asn)
c.6009G>C (p.Lys2003Asn)
n.6630G>C
c.6198G>C (p.Lys2066Asn)
c.6168G>C (p.Lys2056Asn)
c.6120G>C (p.Lys2040Asn)
c.6087G>C (p.Lys2029Asn)
c.6057G>C (p.Lys2019Asn)
c.6054G>C (p.Lys2018Asn)
c.6006G>C (p.Lys2002Asn)
c.5970G>C (p.Lys1990Asn)
c.5967G>C (p.Lys1989Asn)
c.5922G>C (p.Lys1974Asn)
n.6587G>C
Xg.77574288C>TCA517374765ATRXc.6288G>A (p.Lys2096=)
c.1386G>A (p.Lys462=)
c.6174G>A (p.Lys2058=)
c.*5916G>A (n.*5916G>A)
c.772G>A
n.3358G>A
c.6285G>A (p.Lys2095=)
c.6201G>A (p.Lys2067=)
c.6171G>A (p.Lys2057=)
c.6123G>A (p.Lys2041=)
c.6084G>A (p.Lys2028=)
c.6009G>A (p.Lys2003=)
n.6630G>A
c.6198G>A (p.Lys2066=)
c.6168G>A (p.Lys2056=)
c.6120G>A (p.Lys2040=)
c.6087G>A (p.Lys2029=)
c.6057G>A (p.Lys2019=)
c.6054G>A (p.Lys2018=)
c.6006G>A (p.Lys2002=)
c.5970G>A (p.Lys1990=)
c.5967G>A (p.Lys1989=)
c.5922G>A (p.Lys1974=)
n.6587G>A
Xg.77574289T>ACA413701015ATRXc.6287A>T (p.Lys2096Met)
c.1385A>T (p.Lys462Met)
c.6173A>T (p.Lys2058Met)
c.*5915A>T (n.*5915A>T)
c.771A>T
n.3357A>T
c.6284A>T (p.Lys2095Met)
c.6200A>T (p.Lys2067Met)
c.6170A>T (p.Lys2057Met)
c.6122A>T (p.Lys2041Met)
c.6083A>T (p.Lys2028Met)
c.6008A>T (p.Lys2003Met)
n.6629A>T
c.6197A>T (p.Lys2066Met)
c.6167A>T (p.Lys2056Met)
c.6119A>T (p.Lys2040Met)
c.6086A>T (p.Lys2029Met)
c.6056A>T (p.Lys2019Met)
c.6053A>T (p.Lys2018Met)
c.6005A>T (p.Lys2002Met)
c.5969A>T (p.Lys1990Met)
c.5966A>T (p.Lys1989Met)
c.5921A>T (p.Lys1974Met)
n.6586A>T
Xg.77574289T>CCA413701016ATRXc.6287A>G (p.Lys2096Arg)
c.1385A>G (p.Lys462Arg)
c.6173A>G (p.Lys2058Arg)
c.*5915A>G (n.*5915A>G)
c.771A>G
n.3357A>G
c.6284A>G (p.Lys2095Arg)
c.6200A>G (p.Lys2067Arg)
c.6170A>G (p.Lys2057Arg)
c.6122A>G (p.Lys2041Arg)
c.6083A>G (p.Lys2028Arg)
c.6008A>G (p.Lys2003Arg)
n.6629A>G
c.6197A>G (p.Lys2066Arg)
c.6167A>G (p.Lys2056Arg)
c.6119A>G (p.Lys2040Arg)
c.6086A>G (p.Lys2029Arg)
c.6056A>G (p.Lys2019Arg)
c.6053A>G (p.Lys2018Arg)
c.6005A>G (p.Lys2002Arg)
c.5969A>G (p.Lys1990Arg)
c.5966A>G (p.Lys1989Arg)
c.5921A>G (p.Lys1974Arg)
n.6586A>G
Xg.77574289T>GCA413701021ATRXc.6287A>C (p.Lys2096Thr)
c.1385A>C (p.Lys462Thr)
c.6173A>C (p.Lys2058Thr)
c.*5915A>C (n.*5915A>C)
c.771A>C
n.3357A>C
c.6284A>C (p.Lys2095Thr)
c.6200A>C (p.Lys2067Thr)
c.6170A>C (p.Lys2057Thr)
c.6122A>C (p.Lys2041Thr)
c.6083A>C (p.Lys2028Thr)
c.6008A>C (p.Lys2003Thr)
n.6629A>C
c.6197A>C (p.Lys2066Thr)
c.6167A>C (p.Lys2056Thr)
c.6119A>C (p.Lys2040Thr)
c.6086A>C (p.Lys2029Thr)
c.6056A>C (p.Lys2019Thr)
c.6053A>C (p.Lys2018Thr)
c.6005A>C (p.Lys2002Thr)
c.5969A>C (p.Lys1990Thr)
c.5966A>C (p.Lys1989Thr)
c.5921A>C (p.Lys1974Thr)
n.6586A>C
Xg.77574290T>ACA413701027ATRXc.6286A>T (p.Lys2096Ter)
c.1384A>T (p.Lys462Ter)
c.6172A>T (p.Lys2058Ter)
c.*5914A>T (n.*5914A>T)
c.770A>T
n.3356A>T
c.6283A>T (p.Lys2095Ter)
c.6199A>T (p.Lys2067Ter)
c.6169A>T (p.Lys2057Ter)
c.6121A>T (p.Lys2041Ter)
c.6082A>T (p.Lys2028Ter)
c.6007A>T (p.Lys2003Ter)
n.6628A>T
c.6196A>T (p.Lys2066Ter)
c.6166A>T (p.Lys2056Ter)
c.6118A>T (p.Lys2040Ter)
c.6085A>T (p.Lys2029Ter)
c.6055A>T (p.Lys2019Ter)
c.6052A>T (p.Lys2018Ter)
c.6004A>T (p.Lys2002Ter)
c.5968A>T (p.Lys1990Ter)
c.5965A>T (p.Lys1989Ter)
c.5920A>T (p.Lys1974Ter)
n.6585A>T
Xg.77574290T>CCA413701032ATRXc.6286A>G (p.Lys2096Glu)
c.1384A>G (p.Lys462Glu)
c.6172A>G (p.Lys2058Glu)
c.*5914A>G (n.*5914A>G)
c.770A>G
n.3356A>G
c.6283A>G (p.Lys2095Glu)
c.6199A>G (p.Lys2067Glu)
c.6169A>G (p.Lys2057Glu)
c.6121A>G (p.Lys2041Glu)
c.6082A>G (p.Lys2028Glu)
c.6007A>G (p.Lys2003Glu)
n.6628A>G
c.6196A>G (p.Lys2066Glu)
c.6166A>G (p.Lys2056Glu)
c.6118A>G (p.Lys2040Glu)
c.6085A>G (p.Lys2029Glu)
c.6055A>G (p.Lys2019Glu)
c.6052A>G (p.Lys2018Glu)
c.6004A>G (p.Lys2002Glu)
c.5968A>G (p.Lys1990Glu)
c.5965A>G (p.Lys1989Glu)
c.5920A>G (p.Lys1974Glu)
n.6585A>G
Xg.77574290T>GCA413701034ATRXc.6286A>C (p.Lys2096Gln)
c.1384A>C (p.Lys462Gln)
c.6172A>C (p.Lys2058Gln)
c.*5914A>C (n.*5914A>C)
c.770A>C
n.3356A>C
c.6283A>C (p.Lys2095Gln)
c.6199A>C (p.Lys2067Gln)
c.6169A>C (p.Lys2057Gln)
c.6121A>C (p.Lys2041Gln)
c.6082A>C (p.Lys2028Gln)
c.6007A>C (p.Lys2003Gln)
n.6628A>C
c.6196A>C (p.Lys2066Gln)
c.6166A>C (p.Lys2056Gln)
c.6118A>C (p.Lys2040Gln)
c.6085A>C (p.Lys2029Gln)
c.6055A>C (p.Lys2019Gln)
c.6052A>C (p.Lys2018Gln)
c.6004A>C (p.Lys2002Gln)
c.5968A>C (p.Lys1990Gln)
c.5965A>C (p.Lys1989Gln)
c.5920A>C (p.Lys1974Gln)
n.6585A>C
Xg.77574291C>ACA413701037ATRXc.6285G>T (p.Arg2095Ser)
c.1383G>T (p.Arg461Ser)
c.6171G>T (p.Arg2057Ser)
c.*5913G>T (n.*5913G>T)
c.769G>T
n.3355G>T
c.6282G>T (p.Arg2094Ser)
c.6198G>T (p.Arg2066Ser)
c.6168G>T (p.Arg2056Ser)
c.6120G>T (p.Arg2040Ser)
c.6081G>T (p.Arg2027Ser)
c.6006G>T (p.Arg2002Ser)
n.6627G>T
c.6195G>T (p.Arg2065Ser)
c.6165G>T (p.Arg2055Ser)
c.6117G>T (p.Arg2039Ser)
c.6084G>T (p.Arg2028Ser)
c.6054G>T (p.Arg2018Ser)
c.6051G>T (p.Arg2017Ser)
c.6003G>T (p.Arg2001Ser)
c.5967G>T (p.Arg1989Ser)
c.5964G>T (p.Arg1988Ser)
c.5919G>T (p.Arg1973Ser)
n.6584G>T
Xg.77574291C>GCA413701038ATRXc.6285G>C (p.Arg2095Ser)
c.1383G>C (p.Arg461Ser)
c.6171G>C (p.Arg2057Ser)
c.*5913G>C (n.*5913G>C)
c.769G>C
n.3355G>C
c.6282G>C (p.Arg2094Ser)
c.6198G>C (p.Arg2066Ser)
c.6168G>C (p.Arg2056Ser)
c.6120G>C (p.Arg2040Ser)
c.6081G>C (p.Arg2027Ser)
c.6006G>C (p.Arg2002Ser)
n.6627G>C
c.6195G>C (p.Arg2065Ser)
c.6165G>C (p.Arg2055Ser)
c.6117G>C (p.Arg2039Ser)
c.6084G>C (p.Arg2028Ser)
c.6054G>C (p.Arg2018Ser)
c.6051G>C (p.Arg2017Ser)
c.6003G>C (p.Arg2001Ser)
c.5967G>C (p.Arg1989Ser)
c.5964G>C (p.Arg1988Ser)
c.5919G>C (p.Arg1973Ser)
n.6584G>C
Xg.77574291C>TCA517374767ATRXc.6285G>A (p.Arg2095=)
c.1383G>A (p.Arg461=)
c.6171G>A (p.Arg2057=)
c.*5913G>A (n.*5913G>A)
c.769G>A
n.3355G>A
c.6282G>A (p.Arg2094=)
c.6198G>A (p.Arg2066=)
c.6168G>A (p.Arg2056=)
c.6120G>A (p.Arg2040=)
c.6081G>A (p.Arg2027=)
c.6006G>A (p.Arg2002=)
n.6627G>A
c.6195G>A (p.Arg2065=)
c.6165G>A (p.Arg2055=)
c.6117G>A (p.Arg2039=)
c.6084G>A (p.Arg2028=)
c.6054G>A (p.Arg2018=)
c.6051G>A (p.Arg2017=)
c.6003G>A (p.Arg2001=)
c.5967G>A (p.Arg1989=)
c.5964G>A (p.Arg1988=)
c.5919G>A (p.Arg1973=)
n.6584G>A
Xg.77574292C>ACA413701042ATRXc.6284G>T (p.Arg2095Met)
c.1382G>T (p.Arg461Met)
c.6170G>T (p.Arg2057Met)
c.*5912G>T (n.*5912G>T)
c.768G>T
n.3354G>T
c.6281G>T (p.Arg2094Met)
c.6197G>T (p.Arg2066Met)
c.6167G>T (p.Arg2056Met)
c.6119G>T (p.Arg2040Met)
c.6080G>T (p.Arg2027Met)
c.6005G>T (p.Arg2002Met)
n.6626G>T
c.6194G>T (p.Arg2065Met)
c.6164G>T (p.Arg2055Met)
c.6116G>T (p.Arg2039Met)
c.6083G>T (p.Arg2028Met)
c.6053G>T (p.Arg2018Met)
c.6050G>T (p.Arg2017Met)
c.6002G>T (p.Arg2001Met)
c.5966G>T (p.Arg1989Met)
c.5963G>T (p.Arg1988Met)
c.5918G>T (p.Arg1973Met)
n.6583G>T
Xg.77574292C>GCA413701043ATRXc.6284G>C (p.Arg2095Thr)
c.1382G>C (p.Arg461Thr)
c.6170G>C (p.Arg2057Thr)
c.*5912G>C (n.*5912G>C)
c.768G>C
n.3354G>C
c.6281G>C (p.Arg2094Thr)
c.6197G>C (p.Arg2066Thr)
c.6167G>C (p.Arg2056Thr)
c.6119G>C (p.Arg2040Thr)
c.6080G>C (p.Arg2027Thr)
c.6005G>C (p.Arg2002Thr)
n.6626G>C
c.6194G>C (p.Arg2065Thr)
c.6164G>C (p.Arg2055Thr)
c.6116G>C (p.Arg2039Thr)
c.6083G>C (p.Arg2028Thr)
c.6053G>C (p.Arg2018Thr)
c.6050G>C (p.Arg2017Thr)
c.6002G>C (p.Arg2001Thr)
c.5966G>C (p.Arg1989Thr)
c.5963G>C (p.Arg1988Thr)
c.5918G>C (p.Arg1973Thr)
n.6583G>C
Xg.77574292C>TCA413701047ATRXc.6284G>A (p.Arg2095Lys)
c.1382G>A (p.Arg461Lys)
c.6170G>A (p.Arg2057Lys)
c.*5912G>A (n.*5912G>A)
c.768G>A
n.3354G>A
c.6281G>A (p.Arg2094Lys)
c.6197G>A (p.Arg2066Lys)
c.6167G>A (p.Arg2056Lys)
c.6119G>A (p.Arg2040Lys)
c.6080G>A (p.Arg2027Lys)
c.6005G>A (p.Arg2002Lys)
n.6626G>A
c.6194G>A (p.Arg2065Lys)
c.6164G>A (p.Arg2055Lys)
c.6116G>A (p.Arg2039Lys)
c.6083G>A (p.Arg2028Lys)
c.6053G>A (p.Arg2018Lys)
c.6050G>A (p.Arg2017Lys)
c.6002G>A (p.Arg2001Lys)
c.5966G>A (p.Arg1989Lys)
c.5963G>A (p.Arg1988Lys)
c.5918G>A (p.Arg1973Lys)
n.6583G>A
Xg.77574293T>ACA413701049ATRXc.6283A>T (p.Arg2095Trp)
c.1381A>T (p.Arg461Trp)
c.6169A>T (p.Arg2057Trp)
c.*5911A>T (n.*5911A>T)
c.767A>T
n.3353A>T
c.6280A>T (p.Arg2094Trp)
c.6196A>T (p.Arg2066Trp)
c.6166A>T (p.Arg2056Trp)
c.6118A>T (p.Arg2040Trp)
c.6079A>T (p.Arg2027Trp)
c.6004A>T (p.Arg2002Trp)
n.6625A>T
c.6193A>T (p.Arg2065Trp)
c.6163A>T (p.Arg2055Trp)
c.6115A>T (p.Arg2039Trp)
c.6082A>T (p.Arg2028Trp)
c.6052A>T (p.Arg2018Trp)
c.6049A>T (p.Arg2017Trp)
c.6001A>T (p.Arg2001Trp)
c.5965A>T (p.Arg1989Trp)
c.5962A>T (p.Arg1988Trp)
c.5917A>T (p.Arg1973Trp)
n.6582A>T
Xg.77574293T>CCA413701051ATRXc.6283A>G (p.Arg2095Gly)
c.1381A>G (p.Arg461Gly)
c.6169A>G (p.Arg2057Gly)
c.*5911A>G (n.*5911A>G)
c.767A>G
n.3353A>G
c.6280A>G (p.Arg2094Gly)
c.6196A>G (p.Arg2066Gly)
c.6166A>G (p.Arg2056Gly)
c.6118A>G (p.Arg2040Gly)
c.6079A>G (p.Arg2027Gly)
c.6004A>G (p.Arg2002Gly)
n.6625A>G
c.6193A>G (p.Arg2065Gly)
c.6163A>G (p.Arg2055Gly)
c.6115A>G (p.Arg2039Gly)
c.6082A>G (p.Arg2028Gly)
c.6052A>G (p.Arg2018Gly)
c.6049A>G (p.Arg2017Gly)
c.6001A>G (p.Arg2001Gly)
c.5965A>G (p.Arg1989Gly)
c.5962A>G (p.Arg1988Gly)
c.5917A>G (p.Arg1973Gly)
n.6582A>G
Xg.77574293T>GCA517374770ATRXc.6283A>C (p.Arg2095=)
c.1381A>C (p.Arg461=)
c.6169A>C (p.Arg2057=)
c.*5911A>C (n.*5911A>C)
c.767A>C
n.3353A>C
c.6280A>C (p.Arg2094=)
c.6196A>C (p.Arg2066=)
c.6166A>C (p.Arg2056=)
c.6118A>C (p.Arg2040=)
c.6079A>C (p.Arg2027=)
c.6004A>C (p.Arg2002=)
n.6625A>C
c.6193A>C (p.Arg2065=)
c.6163A>C (p.Arg2055=)
c.6115A>C (p.Arg2039=)
c.6082A>C (p.Arg2028=)
c.6052A>C (p.Arg2018=)
c.6049A>C (p.Arg2017=)
c.6001A>C (p.Arg2001=)
c.5965A>C (p.Arg1989=)
c.5962A>C (p.Arg1988=)
c.5917A>C (p.Arg1973=)
n.6582A>C
Xg.77574294delCA2694140376ATRXc.6283del (p.Arg2095GlyfsTer14)
c.1381del (p.Arg461GlyfsTer14)
c.6169del (p.Arg2057GlyfsTer14)
c.*5911del (n.*5911del)
c.767del
n.3353del
c.6280del (p.Arg2094GlyfsTer14)
c.6196del (p.Arg2066GlyfsTer14)
c.6166del (p.Arg2056GlyfsTer14)
c.6118del (p.Arg2040GlyfsTer14)
c.6079del (p.Arg2027GlyfsTer14)
c.6004del (p.Arg2002GlyfsTer14)
n.6625del
c.6193del (p.Arg2065GlyfsTer14)
c.6163del (p.Arg2055GlyfsTer14)
c.6115del (p.Arg2039GlyfsTer14)
c.6082del (p.Arg2028GlyfsTer14)
c.6052del (p.Arg2018GlyfsTer14)
c.6049del (p.Arg2017GlyfsTer14)
c.6001del (p.Arg2001GlyfsTer14)
c.5965del (p.Arg1989GlyfsTer14)
c.5962del (p.Arg1988GlyfsTer14)
c.5917del (p.Arg1973GlyfsTer14)
n.6582del
 gnomAD v4
Xg.77574294T>ACA517374771ATRXc.6282A>T (p.Ser2094=)
c.1380A>T (p.Ser460=)
c.6168A>T (p.Ser2056=)
c.*5910A>T (n.*5910A>T)
c.766A>T
n.3352A>T
c.6279A>T (p.Ser2093=)
c.6195A>T (p.Ser2065=)
c.6165A>T (p.Ser2055=)
c.6117A>T (p.Ser2039=)
c.6078A>T (p.Ser2026=)
c.6003A>T (p.Ser2001=)
n.6624A>T
c.6192A>T (p.Ser2064=)
c.6162A>T (p.Ser2054=)
c.6114A>T (p.Ser2038=)
c.6081A>T (p.Ser2027=)
c.6051A>T (p.Ser2017=)
c.6048A>T (p.Ser2016=)
c.6000A>T (p.Ser2000=)
c.5964A>T (p.Ser1988=)
c.5961A>T (p.Ser1987=)
c.5916A>T (p.Ser1972=)
n.6581A>T
Xg.77574294T>CCA517374773ATRXc.6282A>G (p.Ser2094=)
c.1380A>G (p.Ser460=)
c.6168A>G (p.Ser2056=)
c.*5910A>G (n.*5910A>G)
c.766A>G
n.3352A>G
c.6279A>G (p.Ser2093=)
c.6195A>G (p.Ser2065=)
c.6165A>G (p.Ser2055=)
c.6117A>G (p.Ser2039=)
c.6078A>G (p.Ser2026=)
c.6003A>G (p.Ser2001=)
n.6624A>G
c.6192A>G (p.Ser2064=)
c.6162A>G (p.Ser2054=)
c.6114A>G (p.Ser2038=)
c.6081A>G (p.Ser2027=)
c.6051A>G (p.Ser2017=)
c.6048A>G (p.Ser2016=)
c.6000A>G (p.Ser2000=)
c.5964A>G (p.Ser1988=)
c.5961A>G (p.Ser1987=)
c.5916A>G (p.Ser1972=)
n.6581A>G
Xg.77574294T>GCA517374775ATRXc.6282A>C (p.Ser2094=)
c.1380A>C (p.Ser460=)
c.6168A>C (p.Ser2056=)
c.*5910A>C (n.*5910A>C)
c.766A>C
n.3352A>C
c.6279A>C (p.Ser2093=)
c.6195A>C (p.Ser2065=)
c.6165A>C (p.Ser2055=)
c.6117A>C (p.Ser2039=)
c.6078A>C (p.Ser2026=)
c.6003A>C (p.Ser2001=)
n.6624A>C
c.6192A>C (p.Ser2064=)
c.6162A>C (p.Ser2054=)
c.6114A>C (p.Ser2038=)
c.6081A>C (p.Ser2027=)
c.6051A>C (p.Ser2017=)
c.6048A>C (p.Ser2016=)
c.6000A>C (p.Ser2000=)
c.5964A>C (p.Ser1988=)
c.5961A>C (p.Ser1987=)
c.5916A>C (p.Ser1972=)
n.6581A>C
Xg.77574295delCA2579648814ATRXc.6281del (p.Ser2094Ter)
c.1379del (p.Ser460Ter)
c.6167del (p.Ser2056Ter)
c.*5909del (n.*5909del)
c.765del
n.3351del
c.6278del (p.Ser2093Ter)
c.6194del (p.Ser2065Ter)
c.6164del (p.Ser2055Ter)
c.6116del (p.Ser2039Ter)
c.6077del (p.Ser2026Ter)
c.6002del (p.Ser2001Ter)
n.6623del
c.6191del (p.Ser2064Ter)
c.6161del (p.Ser2054Ter)
c.6113del (p.Ser2038Ter)
c.6080del (p.Ser2027Ter)
c.6050del (p.Ser2017Ter)
c.6047del (p.Ser2016Ter)
c.5999del (p.Ser2000Ter)
c.5963del (p.Ser1988Ter)
c.5960del (p.Ser1987Ter)
c.5915del (p.Ser1972Ter)
n.6580del
Xg.77574295G>ACA10457520ATRXc.6281C>T (p.Ser2094Leu)
c.1379C>T (p.Ser460Leu)
c.6167C>T (p.Ser2056Leu)
c.*5909C>T (n.*5909C>T)
c.765C>T
n.3351C>T
c.6278C>T (p.Ser2093Leu)
c.6194C>T (p.Ser2065Leu)
c.6164C>T (p.Ser2055Leu)
c.6116C>T (p.Ser2039Leu)
c.6077C>T (p.Ser2026Leu)
c.6002C>T (p.Ser2001Leu)
n.6623C>T
c.6191C>T (p.Ser2064Leu)
c.6161C>T (p.Ser2054Leu)
c.6113C>T (p.Ser2038Leu)
c.6080C>T (p.Ser2027Leu)
c.6050C>T (p.Ser2017Leu)
c.6047C>T (p.Ser2016Leu)
c.5999C>T (p.Ser2000Leu)
c.5963C>T (p.Ser1988Leu)
c.5960C>T (p.Ser1987Leu)
c.5915C>T (p.Ser1972Leu)
n.6580C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77574295G>CCA413701057ATRXc.6281C>G (p.Ser2094Ter)
c.1379C>G (p.Ser460Ter)
c.6167C>G (p.Ser2056Ter)
c.*5909C>G (n.*5909C>G)
c.765C>G
n.3351C>G
c.6278C>G (p.Ser2093Ter)
c.6194C>G (p.Ser2065Ter)
c.6164C>G (p.Ser2055Ter)
c.6116C>G (p.Ser2039Ter)
c.6077C>G (p.Ser2026Ter)
c.6002C>G (p.Ser2001Ter)
n.6623C>G
c.6191C>G (p.Ser2064Ter)
c.6161C>G (p.Ser2054Ter)
c.6113C>G (p.Ser2038Ter)
c.6080C>G (p.Ser2027Ter)
c.6050C>G (p.Ser2017Ter)
c.6047C>G (p.Ser2016Ter)
c.5999C>G (p.Ser2000Ter)
c.5963C>G (p.Ser1988Ter)
c.5960C>G (p.Ser1987Ter)
c.5915C>G (p.Ser1972Ter)
n.6580C>G
 COSMIC COSMIC
Xg.77574295G=CA2438951395ATRXc.6281C= (p.Ser2094=)
c.1379C= (p.Ser460=)
c.6167C= (p.Ser2056=)
c.*5909C= (n.*5909C=)
c.765C=
n.3351C=
c.6278C= (p.Ser2093=)
c.6194C= (p.Ser2065=)
c.6164C= (p.Ser2055=)
c.6116C= (p.Ser2039=)
c.6077C= (p.Ser2026=)
c.6002C= (p.Ser2001=)
n.6623C=
c.6191C= (p.Ser2064=)
c.6161C= (p.Ser2054=)
c.6113C= (p.Ser2038=)
c.6080C= (p.Ser2027=)
c.6050C= (p.Ser2017=)
c.6047C= (p.Ser2016=)
c.5999C= (p.Ser2000=)
c.5963C= (p.Ser1988=)
c.5960C= (p.Ser1987=)
c.5915C= (p.Ser1972=)
n.6580C=
Xg.77574295G>TCA413701055ATRXc.6281C>A (p.Ser2094Ter)
c.1379C>A (p.Ser460Ter)
c.6167C>A (p.Ser2056Ter)
c.*5909C>A (n.*5909C>A)
c.765C>A
n.3351C>A
c.6278C>A (p.Ser2093Ter)
c.6194C>A (p.Ser2065Ter)
c.6164C>A (p.Ser2055Ter)
c.6116C>A (p.Ser2039Ter)
c.6077C>A (p.Ser2026Ter)
c.6002C>A (p.Ser2001Ter)
n.6623C>A
c.6191C>A (p.Ser2064Ter)
c.6161C>A (p.Ser2054Ter)
c.6113C>A (p.Ser2038Ter)
c.6080C>A (p.Ser2027Ter)
c.6050C>A (p.Ser2017Ter)
c.6047C>A (p.Ser2016Ter)
c.5999C>A (p.Ser2000Ter)
c.5963C>A (p.Ser1988Ter)
c.5960C>A (p.Ser1987Ter)
c.5915C>A (p.Ser1972Ter)
n.6580C>A
Xg.77574296A>CCA413701061ATRXc.6280T>G (p.Ser2094Ala)
c.1378T>G (p.Ser460Ala)
c.6166T>G (p.Ser2056Ala)
c.*5908T>G (n.*5908T>G)
c.764T>G
n.3350T>G
c.6277T>G (p.Ser2093Ala)
c.6193T>G (p.Ser2065Ala)
c.6163T>G (p.Ser2055Ala)
c.6115T>G (p.Ser2039Ala)
c.6076T>G (p.Ser2026Ala)
c.6001T>G (p.Ser2001Ala)
n.6622T>G
c.6190T>G (p.Ser2064Ala)
c.6160T>G (p.Ser2054Ala)
c.6112T>G (p.Ser2038Ala)
c.6079T>G (p.Ser2027Ala)
c.6049T>G (p.Ser2017Ala)
c.6046T>G (p.Ser2016Ala)
c.5998T>G (p.Ser2000Ala)
c.5962T>G (p.Ser1988Ala)
c.5959T>G (p.Ser1987Ala)
c.5914T>G (p.Ser1972Ala)
n.6579T>G
Xg.77574296A>GCA413701063ATRXc.6280T>C (p.Ser2094Pro)
c.1378T>C (p.Ser460Pro)
c.6166T>C (p.Ser2056Pro)
c.*5908T>C (n.*5908T>C)
c.764T>C
n.3350T>C
c.6277T>C (p.Ser2093Pro)
c.6193T>C (p.Ser2065Pro)
c.6163T>C (p.Ser2055Pro)
c.6115T>C (p.Ser2039Pro)
c.6076T>C (p.Ser2026Pro)
c.6001T>C (p.Ser2001Pro)
n.6622T>C
c.6190T>C (p.Ser2064Pro)
c.6160T>C (p.Ser2054Pro)
c.6112T>C (p.Ser2038Pro)
c.6079T>C (p.Ser2027Pro)
c.6049T>C (p.Ser2017Pro)
c.6046T>C (p.Ser2016Pro)
c.5998T>C (p.Ser2000Pro)
c.5962T>C (p.Ser1988Pro)
c.5959T>C (p.Ser1987Pro)
c.5914T>C (p.Ser1972Pro)
n.6579T>C
Xg.77574296A>TCA413701064ATRXc.6280T>A (p.Ser2094Thr)
c.1378T>A (p.Ser460Thr)
c.6166T>A (p.Ser2056Thr)
c.*5908T>A (n.*5908T>A)
c.764T>A
n.3350T>A
c.6277T>A (p.Ser2093Thr)
c.6193T>A (p.Ser2065Thr)
c.6163T>A (p.Ser2055Thr)
c.6115T>A (p.Ser2039Thr)
c.6076T>A (p.Ser2026Thr)
c.6001T>A (p.Ser2001Thr)
n.6622T>A
c.6190T>A (p.Ser2064Thr)
c.6160T>A (p.Ser2054Thr)
c.6112T>A (p.Ser2038Thr)
c.6079T>A (p.Ser2027Thr)
c.6049T>A (p.Ser2017Thr)
c.6046T>A (p.Ser2016Thr)
c.5998T>A (p.Ser2000Thr)
c.5962T>A (p.Ser1988Thr)
c.5959T>A (p.Ser1987Thr)
c.5914T>A (p.Ser1972Thr)
n.6579T>A
Xg.77574297C>ACA413701065ATRXc.6279G>T (p.Gln2093His)
c.1377G>T (p.Gln459His)
c.6165G>T (p.Gln2055His)
c.*5907G>T (n.*5907G>T)
c.763G>T
n.3349G>T
c.6276G>T (p.Gln2092His)
c.6192G>T (p.Gln2064His)
c.6162G>T (p.Gln2054His)
c.6114G>T (p.Gln2038His)
c.6075G>T (p.Gln2025His)
c.6000G>T (p.Gln2000His)
n.6621G>T
c.6189G>T (p.Gln2063His)
c.6159G>T (p.Gln2053His)
c.6111G>T (p.Gln2037His)
c.6078G>T (p.Gln2026His)
c.6048G>T (p.Gln2016His)
c.6045G>T (p.Gln2015His)
c.5997G>T (p.Gln1999His)
c.5961G>T (p.Gln1987His)
c.5958G>T (p.Gln1986His)
c.5913G>T (p.Gln1971His)
n.6578G>T
Xg.77574297C>GCA413701066ATRXc.6279G>C (p.Gln2093His)
c.1377G>C (p.Gln459His)
c.6165G>C (p.Gln2055His)
c.*5907G>C (n.*5907G>C)
c.763G>C
n.3349G>C
c.6276G>C (p.Gln2092His)
c.6192G>C (p.Gln2064His)
c.6162G>C (p.Gln2054His)
c.6114G>C (p.Gln2038His)
c.6075G>C (p.Gln2025His)
c.6000G>C (p.Gln2000His)
n.6621G>C
c.6189G>C (p.Gln2063His)
c.6159G>C (p.Gln2053His)
c.6111G>C (p.Gln2037His)
c.6078G>C (p.Gln2026His)
c.6048G>C (p.Gln2016His)
c.6045G>C (p.Gln2015His)
c.5997G>C (p.Gln1999His)
c.5961G>C (p.Gln1987His)
c.5958G>C (p.Gln1986His)
c.5913G>C (p.Gln1971His)
n.6578G>C
Xg.77574297C>TCA517374777ATRXc.6279G>A (p.Gln2093=)
c.1377G>A (p.Gln459=)
c.6165G>A (p.Gln2055=)
c.*5907G>A (n.*5907G>A)
c.763G>A
n.3349G>A
c.6276G>A (p.Gln2092=)
c.6192G>A (p.Gln2064=)
c.6162G>A (p.Gln2054=)
c.6114G>A (p.Gln2038=)
c.6075G>A (p.Gln2025=)
c.6000G>A (p.Gln2000=)
n.6621G>A
c.6189G>A (p.Gln2063=)
c.6159G>A (p.Gln2053=)
c.6111G>A (p.Gln2037=)
c.6078G>A (p.Gln2026=)
c.6048G>A (p.Gln2016=)
c.6045G>A (p.Gln2015=)
c.5997G>A (p.Gln1999=)
c.5961G>A (p.Gln1987=)
c.5958G>A (p.Gln1986=)
c.5913G>A (p.Gln1971=)
n.6578G>A
 dbSNP gnomAD v4
Xg.77574298T>ACA413701067ATRXc.6278A>T (p.Gln2093Leu)
c.1376A>T (p.Gln459Leu)
c.6164A>T (p.Gln2055Leu)
c.*5906A>T (n.*5906A>T)
c.762A>T
n.3348A>T
c.6275A>T (p.Gln2092Leu)
c.6191A>T (p.Gln2064Leu)
c.6161A>T (p.Gln2054Leu)
c.6113A>T (p.Gln2038Leu)
c.6074A>T (p.Gln2025Leu)
c.5999A>T (p.Gln2000Leu)
n.6620A>T
c.6188A>T (p.Gln2063Leu)
c.6158A>T (p.Gln2053Leu)
c.6110A>T (p.Gln2037Leu)
c.6077A>T (p.Gln2026Leu)
c.6047A>T (p.Gln2016Leu)
c.6044A>T (p.Gln2015Leu)
c.5996A>T (p.Gln1999Leu)
c.5960A>T (p.Gln1987Leu)
c.5957A>T (p.Gln1986Leu)
c.5912A>T (p.Gln1971Leu)
n.6577A>T
Xg.77574298T>CCA413701068ATRXc.6278A>G (p.Gln2093Arg)
c.1376A>G (p.Gln459Arg)
c.6164A>G (p.Gln2055Arg)
c.*5906A>G (n.*5906A>G)
c.762A>G
n.3348A>G
c.6275A>G (p.Gln2092Arg)
c.6191A>G (p.Gln2064Arg)
c.6161A>G (p.Gln2054Arg)
c.6113A>G (p.Gln2038Arg)
c.6074A>G (p.Gln2025Arg)
c.5999A>G (p.Gln2000Arg)
n.6620A>G
c.6188A>G (p.Gln2063Arg)
c.6158A>G (p.Gln2053Arg)
c.6110A>G (p.Gln2037Arg)
c.6077A>G (p.Gln2026Arg)
c.6047A>G (p.Gln2016Arg)
c.6044A>G (p.Gln2015Arg)
c.5996A>G (p.Gln1999Arg)
c.5960A>G (p.Gln1987Arg)
c.5957A>G (p.Gln1986Arg)
c.5912A>G (p.Gln1971Arg)
n.6577A>G
Xg.77574298T>GCA413701069ATRXc.6278A>C (p.Gln2093Pro)
c.1376A>C (p.Gln459Pro)
c.6164A>C (p.Gln2055Pro)
c.*5906A>C (n.*5906A>C)
c.762A>C
n.3348A>C
c.6275A>C (p.Gln2092Pro)
c.6191A>C (p.Gln2064Pro)
c.6161A>C (p.Gln2054Pro)
c.6113A>C (p.Gln2038Pro)
c.6074A>C (p.Gln2025Pro)
c.5999A>C (p.Gln2000Pro)
n.6620A>C
c.6188A>C (p.Gln2063Pro)
c.6158A>C (p.Gln2053Pro)
c.6110A>C (p.Gln2037Pro)
c.6077A>C (p.Gln2026Pro)
c.6047A>C (p.Gln2016Pro)
c.6044A>C (p.Gln2015Pro)
c.5996A>C (p.Gln1999Pro)
c.5960A>C (p.Gln1987Pro)
c.5957A>C (p.Gln1986Pro)
c.5912A>C (p.Gln1971Pro)
n.6577A>C
Xg.77574299G>ACA413701070ATRXc.6277C>T (p.Gln2093Ter)
c.1375C>T (p.Gln459Ter)
c.6163C>T (p.Gln2055Ter)
c.*5905C>T (n.*5905C>T)
c.761C>T
n.3347C>T
c.6274C>T (p.Gln2092Ter)
c.6190C>T (p.Gln2064Ter)
c.6160C>T (p.Gln2054Ter)
c.6112C>T (p.Gln2038Ter)
c.6073C>T (p.Gln2025Ter)
c.5998C>T (p.Gln2000Ter)
n.6619C>T
c.6187C>T (p.Gln2063Ter)
c.6157C>T (p.Gln2053Ter)
c.6109C>T (p.Gln2037Ter)
c.6076C>T (p.Gln2026Ter)
c.6046C>T (p.Gln2016Ter)
c.6043C>T (p.Gln2015Ter)
c.5995C>T (p.Gln1999Ter)
c.5959C>T (p.Gln1987Ter)
c.5956C>T (p.Gln1986Ter)
c.5911C>T (p.Gln1971Ter)
n.6576C>T
Xg.77574299G>CCA413701071ATRXc.6277C>G (p.Gln2093Glu)
c.1375C>G (p.Gln459Glu)
c.6163C>G (p.Gln2055Glu)
c.*5905C>G (n.*5905C>G)
c.761C>G
n.3347C>G
c.6274C>G (p.Gln2092Glu)
c.6190C>G (p.Gln2064Glu)
c.6160C>G (p.Gln2054Glu)
c.6112C>G (p.Gln2038Glu)
c.6073C>G (p.Gln2025Glu)
c.5998C>G (p.Gln2000Glu)
n.6619C>G
c.6187C>G (p.Gln2063Glu)
c.6157C>G (p.Gln2053Glu)
c.6109C>G (p.Gln2037Glu)
c.6076C>G (p.Gln2026Glu)
c.6046C>G (p.Gln2016Glu)
c.6043C>G (p.Gln2015Glu)
c.5995C>G (p.Gln1999Glu)
c.5959C>G (p.Gln1987Glu)
c.5956C>G (p.Gln1986Glu)
c.5911C>G (p.Gln1971Glu)
n.6576C>G
Xg.77574299G>TCA413701072ATRXc.6277C>A (p.Gln2093Lys)
c.1375C>A (p.Gln459Lys)
c.6163C>A (p.Gln2055Lys)
c.*5905C>A (n.*5905C>A)
c.761C>A
n.3347C>A
c.6274C>A (p.Gln2092Lys)
c.6190C>A (p.Gln2064Lys)
c.6160C>A (p.Gln2054Lys)
c.6112C>A (p.Gln2038Lys)
c.6073C>A (p.Gln2025Lys)
c.5998C>A (p.Gln2000Lys)
n.6619C>A
c.6187C>A (p.Gln2063Lys)
c.6157C>A (p.Gln2053Lys)
c.6109C>A (p.Gln2037Lys)
c.6076C>A (p.Gln2026Lys)
c.6046C>A (p.Gln2016Lys)
c.6043C>A (p.Gln2015Lys)
c.5995C>A (p.Gln1999Lys)
c.5959C>A (p.Gln1987Lys)
c.5956C>A (p.Gln1986Lys)
c.5911C>A (p.Gln1971Lys)
n.6576C>A
Xg.77574300T>ACA517374778ATRXc.6276A>T (p.Ala2092=)
c.1374A>T (p.Ala458=)
c.6162A>T (p.Ala2054=)
c.*5904A>T (n.*5904A>T)
c.760A>T
n.3346A>T
c.6273A>T (p.Ala2091=)
c.6189A>T (p.Ala2063=)
c.6159A>T (p.Ala2053=)
c.6111A>T (p.Ala2037=)
c.6072A>T (p.Ala2024=)
c.5997A>T (p.Ala1999=)
n.6618A>T
c.6186A>T (p.Ala2062=)
c.6156A>T (p.Ala2052=)
c.6108A>T (p.Ala2036=)
c.6075A>T (p.Ala2025=)
c.6045A>T (p.Ala2015=)
c.6042A>T (p.Ala2014=)
c.5994A>T (p.Ala1998=)
c.5958A>T (p.Ala1986=)
c.5955A>T (p.Ala1985=)
c.5910A>T (p.Ala1970=)
n.6575A>T
Xg.77574300T>CCA517374779ATRXc.6276A>G (p.Ala2092=)
c.1374A>G (p.Ala458=)
c.6162A>G (p.Ala2054=)
c.*5904A>G (n.*5904A>G)
c.760A>G
n.3346A>G
c.6273A>G (p.Ala2091=)
c.6189A>G (p.Ala2063=)
c.6159A>G (p.Ala2053=)
c.6111A>G (p.Ala2037=)
c.6072A>G (p.Ala2024=)
c.5997A>G (p.Ala1999=)
n.6618A>G
c.6186A>G (p.Ala2062=)
c.6156A>G (p.Ala2052=)
c.6108A>G (p.Ala2036=)
c.6075A>G (p.Ala2025=)
c.6045A>G (p.Ala2015=)
c.6042A>G (p.Ala2014=)
c.5994A>G (p.Ala1998=)
c.5958A>G (p.Ala1986=)
c.5955A>G (p.Ala1985=)
c.5910A>G (p.Ala1970=)
n.6575A>G
Xg.77574300T>GCA517374780ATRXc.6276A>C (p.Ala2092=)
c.1374A>C (p.Ala458=)
c.6162A>C (p.Ala2054=)
c.*5904A>C (n.*5904A>C)
c.760A>C
n.3346A>C
c.6273A>C (p.Ala2091=)
c.6189A>C (p.Ala2063=)
c.6159A>C (p.Ala2053=)
c.6111A>C (p.Ala2037=)
c.6072A>C (p.Ala2024=)
c.5997A>C (p.Ala1999=)
n.6618A>C
c.6186A>C (p.Ala2062=)
c.6156A>C (p.Ala2052=)
c.6108A>C (p.Ala2036=)
c.6075A>C (p.Ala2025=)
c.6045A>C (p.Ala2015=)
c.6042A>C (p.Ala2014=)
c.5994A>C (p.Ala1998=)
c.5958A>C (p.Ala1986=)
c.5955A>C (p.Ala1985=)
c.5910A>C (p.Ala1970=)
n.6575A>C
 ClinVar dbSNP COSMIC COSMIC
Xg.77574301G>ACA413701075ATRXc.6275C>T (p.Ala2092Val)
c.1373C>T (p.Ala458Val)
c.6161C>T (p.Ala2054Val)
c.*5903C>T (n.*5903C>T)
c.759C>T
n.3345C>T
c.6272C>T (p.Ala2091Val)
c.6188C>T (p.Ala2063Val)
c.6158C>T (p.Ala2053Val)
c.6110C>T (p.Ala2037Val)
c.6071C>T (p.Ala2024Val)
c.5996C>T (p.Ala1999Val)
n.6617C>T
c.6185C>T (p.Ala2062Val)
c.6155C>T (p.Ala2052Val)
c.6107C>T (p.Ala2036Val)
c.6074C>T (p.Ala2025Val)
c.6044C>T (p.Ala2015Val)
c.6041C>T (p.Ala2014Val)
c.5993C>T (p.Ala1998Val)
c.5957C>T (p.Ala1986Val)
c.5954C>T (p.Ala1985Val)
c.5909C>T (p.Ala1970Val)
n.6574C>T
Xg.77574301G>CCA413701074ATRXc.6275C>G (p.Ala2092Gly)
c.1373C>G (p.Ala458Gly)
c.6161C>G (p.Ala2054Gly)
c.*5903C>G (n.*5903C>G)
c.759C>G
n.3345C>G
c.6272C>G (p.Ala2091Gly)
c.6188C>G (p.Ala2063Gly)
c.6158C>G (p.Ala2053Gly)
c.6110C>G (p.Ala2037Gly)
c.6071C>G (p.Ala2024Gly)
c.5996C>G (p.Ala1999Gly)
n.6617C>G
c.6185C>G (p.Ala2062Gly)
c.6155C>G (p.Ala2052Gly)
c.6107C>G (p.Ala2036Gly)
c.6074C>G (p.Ala2025Gly)
c.6044C>G (p.Ala2015Gly)
c.6041C>G (p.Ala2014Gly)
c.5993C>G (p.Ala1998Gly)
c.5957C>G (p.Ala1986Gly)
c.5954C>G (p.Ala1985Gly)
c.5909C>G (p.Ala1970Gly)
n.6574C>G
Xg.77574301G>TCA413701073ATRXc.6275C>A (p.Ala2092Glu)
c.1373C>A (p.Ala458Glu)
c.6161C>A (p.Ala2054Glu)
c.*5903C>A (n.*5903C>A)
c.759C>A
n.3345C>A
c.6272C>A (p.Ala2091Glu)
c.6188C>A (p.Ala2063Glu)
c.6158C>A (p.Ala2053Glu)
c.6110C>A (p.Ala2037Glu)
c.6071C>A (p.Ala2024Glu)
c.5996C>A (p.Ala1999Glu)
n.6617C>A
c.6185C>A (p.Ala2062Glu)
c.6155C>A (p.Ala2052Glu)
c.6107C>A (p.Ala2036Glu)
c.6074C>A (p.Ala2025Glu)
c.6044C>A (p.Ala2015Glu)
c.6041C>A (p.Ala2014Glu)
c.5993C>A (p.Ala1998Glu)
c.5957C>A (p.Ala1986Glu)
c.5954C>A (p.Ala1985Glu)
c.5909C>A (p.Ala1970Glu)
n.6574C>A
Xg.77574302C>ACA413701076ATRXc.6274G>T (p.Ala2092Ser)
c.1372G>T (p.Ala458Ser)
c.6160G>T (p.Ala2054Ser)
c.*5902G>T (n.*5902G>T)
c.758G>T
n.3344G>T
c.6271G>T (p.Ala2091Ser)
c.6187G>T (p.Ala2063Ser)
c.6157G>T (p.Ala2053Ser)
c.6109G>T (p.Ala2037Ser)
c.6070G>T (p.Ala2024Ser)
c.5995G>T (p.Ala1999Ser)
n.6616G>T
c.6184G>T (p.Ala2062Ser)
c.6154G>T (p.Ala2052Ser)
c.6106G>T (p.Ala2036Ser)
c.6073G>T (p.Ala2025Ser)
c.6043G>T (p.Ala2015Ser)
c.6040G>T (p.Ala2014Ser)
c.5992G>T (p.Ala1998Ser)
c.5956G>T (p.Ala1986Ser)
c.5953G>T (p.Ala1985Ser)
c.5908G>T (p.Ala1970Ser)
n.6573G>T
Xg.77574302C>GCA413701077ATRXc.6274G>C (p.Ala2092Pro)
c.1372G>C (p.Ala458Pro)
c.6160G>C (p.Ala2054Pro)
c.*5902G>C (n.*5902G>C)
c.758G>C
n.3344G>C
c.6271G>C (p.Ala2091Pro)
c.6187G>C (p.Ala2063Pro)
c.6157G>C (p.Ala2053Pro)
c.6109G>C (p.Ala2037Pro)
c.6070G>C (p.Ala2024Pro)
c.5995G>C (p.Ala1999Pro)
n.6616G>C
c.6184G>C (p.Ala2062Pro)
c.6154G>C (p.Ala2052Pro)
c.6106G>C (p.Ala2036Pro)
c.6073G>C (p.Ala2025Pro)
c.6043G>C (p.Ala2015Pro)
c.6040G>C (p.Ala2014Pro)
c.5992G>C (p.Ala1998Pro)
c.5956G>C (p.Ala1986Pro)
c.5953G>C (p.Ala1985Pro)
c.5908G>C (p.Ala1970Pro)
n.6573G>C
Xg.77574302C>TCA413701078ATRXc.6274G>A (p.Ala2092Thr)
c.1372G>A (p.Ala458Thr)
c.6160G>A (p.Ala2054Thr)
c.*5902G>A (n.*5902G>A)
c.758G>A
n.3344G>A
c.6271G>A (p.Ala2091Thr)
c.6187G>A (p.Ala2063Thr)
c.6157G>A (p.Ala2053Thr)
c.6109G>A (p.Ala2037Thr)
c.6070G>A (p.Ala2024Thr)
c.5995G>A (p.Ala1999Thr)
n.6616G>A
c.6184G>A (p.Ala2062Thr)
c.6154G>A (p.Ala2052Thr)
c.6106G>A (p.Ala2036Thr)
c.6073G>A (p.Ala2025Thr)
c.6043G>A (p.Ala2015Thr)
c.6040G>A (p.Ala2014Thr)
c.5992G>A (p.Ala1998Thr)
c.5956G>A (p.Ala1986Thr)
c.5953G>A (p.Ala1985Thr)
c.5908G>A (p.Ala1970Thr)
n.6573G>A
 dbSNP
Xg.77574303A=CA2438951396ATRXc.6273T= (p.Thr2091=)
c.1371T= (p.Thr457=)
c.6159T= (p.Thr2053=)
c.*5901T= (n.*5901T=)
c.757T=
n.3343T=
c.6270T= (p.Thr2090=)
c.6186T= (p.Thr2062=)
c.6156T= (p.Thr2052=)
c.6108T= (p.Thr2036=)
c.6069T= (p.Thr2023=)
c.5994T= (p.Thr1998=)
n.6615T=
c.6183T= (p.Thr2061=)
c.6153T= (p.Thr2051=)
c.6105T= (p.Thr2035=)
c.6072T= (p.Thr2024=)
c.6042T= (p.Thr2014=)
c.6039T= (p.Thr2013=)
c.5991T= (p.Thr1997=)
c.5955T= (p.Thr1985=)
c.5952T= (p.Thr1984=)
c.5907T= (p.Thr1969=)
n.6572T=
Xg.77574303A>CCA517374781ATRXc.6273T>G (p.Thr2091=)
c.1371T>G (p.Thr457=)
c.6159T>G (p.Thr2053=)
c.*5901T>G (n.*5901T>G)
c.757T>G
n.3343T>G
c.6270T>G (p.Thr2090=)
c.6186T>G (p.Thr2062=)
c.6156T>G (p.Thr2052=)
c.6108T>G (p.Thr2036=)
c.6069T>G (p.Thr2023=)
c.5994T>G (p.Thr1998=)
n.6615T>G
c.6183T>G (p.Thr2061=)
c.6153T>G (p.Thr2051=)
c.6105T>G (p.Thr2035=)
c.6072T>G (p.Thr2024=)
c.6042T>G (p.Thr2014=)
c.6039T>G (p.Thr2013=)
c.5991T>G (p.Thr1997=)
c.5955T>G (p.Thr1985=)
c.5952T>G (p.Thr1984=)
c.5907T>G (p.Thr1969=)
n.6572T>G
Xg.77574303A>GCA517374782ATRXc.6273T>C (p.Thr2091=)
c.1371T>C (p.Thr457=)
c.6159T>C (p.Thr2053=)
c.*5901T>C (n.*5901T>C)
c.757T>C
n.3343T>C
c.6270T>C (p.Thr2090=)
c.6186T>C (p.Thr2062=)
c.6156T>C (p.Thr2052=)
c.6108T>C (p.Thr2036=)
c.6069T>C (p.Thr2023=)
c.5994T>C (p.Thr1998=)
n.6615T>C
c.6183T>C (p.Thr2061=)
c.6153T>C (p.Thr2051=)
c.6105T>C (p.Thr2035=)
c.6072T>C (p.Thr2024=)
c.6042T>C (p.Thr2014=)
c.6039T>C (p.Thr2013=)
c.5991T>C (p.Thr1997=)
c.5955T>C (p.Thr1985=)
c.5952T>C (p.Thr1984=)
c.5907T>C (p.Thr1969=)
n.6572T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.77574303A>TCA517374783ATRXc.6273T>A (p.Thr2091=)
c.1371T>A (p.Thr457=)
c.6159T>A (p.Thr2053=)
c.*5901T>A (n.*5901T>A)
c.757T>A
n.3343T>A
c.6270T>A (p.Thr2090=)
c.6186T>A (p.Thr2062=)
c.6156T>A (p.Thr2052=)
c.6108T>A (p.Thr2036=)
c.6069T>A (p.Thr2023=)
c.5994T>A (p.Thr1998=)
n.6615T>A
c.6183T>A (p.Thr2061=)
c.6153T>A (p.Thr2051=)
c.6105T>A (p.Thr2035=)
c.6072T>A (p.Thr2024=)
c.6042T>A (p.Thr2014=)
c.6039T>A (p.Thr2013=)
c.5991T>A (p.Thr1997=)
c.5955T>A (p.Thr1985=)
c.5952T>A (p.Thr1984=)
c.5907T>A (p.Thr1969=)
n.6572T>A
Xg.77574304G>ACA413701081ATRXc.6272C>T (p.Thr2091Ile)
c.1370C>T (p.Thr457Ile)
c.6158C>T (p.Thr2053Ile)
c.*5900C>T (n.*5900C>T)
c.756C>T
n.3342C>T
c.6269C>T (p.Thr2090Ile)
c.6185C>T (p.Thr2062Ile)
c.6155C>T (p.Thr2052Ile)
c.6107C>T (p.Thr2036Ile)
c.6068C>T (p.Thr2023Ile)
c.5993C>T (p.Thr1998Ile)
n.6614C>T
c.6182C>T (p.Thr2061Ile)
c.6152C>T (p.Thr2051Ile)
c.6104C>T (p.Thr2035Ile)
c.6071C>T (p.Thr2024Ile)
c.6041C>T (p.Thr2014Ile)
c.6038C>T (p.Thr2013Ile)
c.5990C>T (p.Thr1997Ile)
c.5954C>T (p.Thr1985Ile)
c.5951C>T (p.Thr1984Ile)
c.5906C>T (p.Thr1969Ile)
n.6571C>T
Xg.77574304G>CCA413701083ATRXc.6272C>G (p.Thr2091Ser)
c.1370C>G (p.Thr457Ser)
c.6158C>G (p.Thr2053Ser)
c.*5900C>G (n.*5900C>G)
c.756C>G
n.3342C>G
c.6269C>G (p.Thr2090Ser)
c.6185C>G (p.Thr2062Ser)
c.6155C>G (p.Thr2052Ser)
c.6107C>G (p.Thr2036Ser)
c.6068C>G (p.Thr2023Ser)
c.5993C>G (p.Thr1998Ser)
n.6614C>G
c.6182C>G (p.Thr2061Ser)
c.6152C>G (p.Thr2051Ser)
c.6104C>G (p.Thr2035Ser)
c.6071C>G (p.Thr2024Ser)
c.6041C>G (p.Thr2014Ser)
c.6038C>G (p.Thr2013Ser)
c.5990C>G (p.Thr1997Ser)
c.5954C>G (p.Thr1985Ser)
c.5951C>G (p.Thr1984Ser)
c.5906C>G (p.Thr1969Ser)
n.6571C>G
Xg.77574304G>TCA413701085ATRXc.6272C>A (p.Thr2091Asn)
c.1370C>A (p.Thr457Asn)
c.6158C>A (p.Thr2053Asn)
c.*5900C>A (n.*5900C>A)
c.756C>A
n.3342C>A
c.6269C>A (p.Thr2090Asn)
c.6185C>A (p.Thr2062Asn)
c.6155C>A (p.Thr2052Asn)
c.6107C>A (p.Thr2036Asn)
c.6068C>A (p.Thr2023Asn)
c.5993C>A (p.Thr1998Asn)
n.6614C>A
c.6182C>A (p.Thr2061Asn)
c.6152C>A (p.Thr2051Asn)
c.6104C>A (p.Thr2035Asn)
c.6071C>A (p.Thr2024Asn)
c.6041C>A (p.Thr2014Asn)
c.6038C>A (p.Thr2013Asn)
c.5990C>A (p.Thr1997Asn)
c.5954C>A (p.Thr1985Asn)
c.5951C>A (p.Thr1984Asn)
c.5906C>A (p.Thr1969Asn)
n.6571C>A
Xg.77574305T>ACA413701092ATRXc.6271A>T (p.Thr2091Ser)
c.1369A>T (p.Thr457Ser)
c.6157A>T (p.Thr2053Ser)
c.*5899A>T (n.*5899A>T)
c.755A>T
n.3341A>T
c.6268A>T (p.Thr2090Ser)
c.6184A>T (p.Thr2062Ser)
c.6154A>T (p.Thr2052Ser)
c.6106A>T (p.Thr2036Ser)
c.6067A>T (p.Thr2023Ser)
c.5992A>T (p.Thr1998Ser)
n.6613A>T
c.6181A>T (p.Thr2061Ser)
c.6151A>T (p.Thr2051Ser)
c.6103A>T (p.Thr2035Ser)
c.6070A>T (p.Thr2024Ser)
c.6040A>T (p.Thr2014Ser)
c.6037A>T (p.Thr2013Ser)
c.5989A>T (p.Thr1997Ser)
c.5953A>T (p.Thr1985Ser)
c.5950A>T (p.Thr1984Ser)
c.5905A>T (p.Thr1969Ser)
n.6570A>T
Xg.77574305T>CCA413701089ATRXc.6271A>G (p.Thr2091Ala)
c.1369A>G (p.Thr457Ala)
c.6157A>G (p.Thr2053Ala)
c.*5899A>G (n.*5899A>G)
c.755A>G
n.3341A>G
c.6268A>G (p.Thr2090Ala)
c.6184A>G (p.Thr2062Ala)
c.6154A>G (p.Thr2052Ala)
c.6106A>G (p.Thr2036Ala)
c.6067A>G (p.Thr2023Ala)
c.5992A>G (p.Thr1998Ala)
n.6613A>G
c.6181A>G (p.Thr2061Ala)
c.6151A>G (p.Thr2051Ala)
c.6103A>G (p.Thr2035Ala)
c.6070A>G (p.Thr2024Ala)
c.6040A>G (p.Thr2014Ala)
c.6037A>G (p.Thr2013Ala)
c.5989A>G (p.Thr1997Ala)
c.5953A>G (p.Thr1985Ala)
c.5950A>G (p.Thr1984Ala)
c.5905A>G (p.Thr1969Ala)
n.6570A>G
 ClinVar dbSNP
Xg.77574305T>GCA413701088ATRXc.6271A>C (p.Thr2091Pro)
c.1369A>C (p.Thr457Pro)
c.6157A>C (p.Thr2053Pro)
c.*5899A>C (n.*5899A>C)
c.755A>C
n.3341A>C
c.6268A>C (p.Thr2090Pro)
c.6184A>C (p.Thr2062Pro)
c.6154A>C (p.Thr2052Pro)
c.6106A>C (p.Thr2036Pro)
c.6067A>C (p.Thr2023Pro)
c.5992A>C (p.Thr1998Pro)
n.6613A>C
c.6181A>C (p.Thr2061Pro)
c.6151A>C (p.Thr2051Pro)
c.6103A>C (p.Thr2035Pro)
c.6070A>C (p.Thr2024Pro)
c.6040A>C (p.Thr2014Pro)
c.6037A>C (p.Thr2013Pro)
c.5989A>C (p.Thr1997Pro)
c.5953A>C (p.Thr1985Pro)
c.5950A>C (p.Thr1984Pro)
c.5905A>C (p.Thr1969Pro)
n.6570A>C
Xg.77574305T=CA2438951397ATRXc.6271A= (p.Thr2091=)
c.1369A= (p.Thr457=)
c.6157A= (p.Thr2053=)
c.*5899A= (n.*5899A=)
c.755A=
n.3341A=
c.6268A= (p.Thr2090=)
c.6184A= (p.Thr2062=)
c.6154A= (p.Thr2052=)
c.6106A= (p.Thr2036=)
c.6067A= (p.Thr2023=)
c.5992A= (p.Thr1998=)
n.6613A=
c.6181A= (p.Thr2061=)
c.6151A= (p.Thr2051=)
c.6103A= (p.Thr2035=)
c.6070A= (p.Thr2024=)
c.6040A= (p.Thr2014=)
c.6037A= (p.Thr2013=)
c.5989A= (p.Thr1997=)
c.5953A= (p.Thr1985=)
c.5950A= (p.Thr1984=)
c.5905A= (p.Thr1969=)
n.6570A=
Xg.77574306A>CCA517374785ATRXc.6270T>G (p.Thr2090=)
c.1368T>G (p.Thr456=)
c.6156T>G (p.Thr2052=)
c.*5898T>G (n.*5898T>G)
c.754T>G
n.3340T>G
c.6267T>G (p.Thr2089=)
c.6183T>G (p.Thr2061=)
c.6153T>G (p.Thr2051=)
c.6105T>G (p.Thr2035=)
c.6066T>G (p.Thr2022=)
c.5991T>G (p.Thr1997=)
n.6612T>G
c.6180T>G (p.Thr2060=)
c.6150T>G (p.Thr2050=)
c.6102T>G (p.Thr2034=)
c.6069T>G (p.Thr2023=)
c.6039T>G (p.Thr2013=)
c.6036T>G (p.Thr2012=)
c.5988T>G (p.Thr1996=)
c.5952T>G (p.Thr1984=)
c.5949T>G (p.Thr1983=)
c.5904T>G (p.Thr1968=)
n.6569T>G
Xg.77574306A>GCA517374786ATRXc.6270T>C (p.Thr2090=)
c.1368T>C (p.Thr456=)
c.6156T>C (p.Thr2052=)
c.*5898T>C (n.*5898T>C)
c.754T>C
n.3340T>C
c.6267T>C (p.Thr2089=)
c.6183T>C (p.Thr2061=)
c.6153T>C (p.Thr2051=)
c.6105T>C (p.Thr2035=)
c.6066T>C (p.Thr2022=)
c.5991T>C (p.Thr1997=)
n.6612T>C
c.6180T>C (p.Thr2060=)
c.6150T>C (p.Thr2050=)
c.6102T>C (p.Thr2034=)
c.6069T>C (p.Thr2023=)
c.6039T>C (p.Thr2013=)
c.6036T>C (p.Thr2012=)
c.5988T>C (p.Thr1996=)
c.5952T>C (p.Thr1984=)
c.5949T>C (p.Thr1983=)
c.5904T>C (p.Thr1968=)
n.6569T>C
Xg.77574306A>TCA517374787ATRXc.6270T>A (p.Thr2090=)
c.1368T>A (p.Thr456=)
c.6156T>A (p.Thr2052=)
c.*5898T>A (n.*5898T>A)
c.754T>A
n.3340T>A
c.6267T>A (p.Thr2089=)
c.6183T>A (p.Thr2061=)
c.6153T>A (p.Thr2051=)
c.6105T>A (p.Thr2035=)
c.6066T>A (p.Thr2022=)
c.5991T>A (p.Thr1997=)
n.6612T>A
c.6180T>A (p.Thr2060=)
c.6150T>A (p.Thr2050=)
c.6102T>A (p.Thr2034=)
c.6069T>A (p.Thr2023=)
c.6039T>A (p.Thr2013=)
c.6036T>A (p.Thr2012=)
c.5988T>A (p.Thr1996=)
c.5952T>A (p.Thr1984=)
c.5949T>A (p.Thr1983=)
c.5904T>A (p.Thr1968=)
n.6569T>A
Xg.77574307G>ACA10457521ATRXc.6269C>T (p.Thr2090Ile)
c.1367C>T (p.Thr456Ile)
c.6155C>T (p.Thr2052Ile)
c.*5897C>T (n.*5897C>T)
c.753C>T
n.3339C>T
c.6266C>T (p.Thr2089Ile)
c.6182C>T (p.Thr2061Ile)
c.6152C>T (p.Thr2051Ile)
c.6104C>T (p.Thr2035Ile)
c.6065C>T (p.Thr2022Ile)
c.5990C>T (p.Thr1997Ile)
n.6611C>T
c.6179C>T (p.Thr2060Ile)
c.6149C>T (p.Thr2050Ile)
c.6101C>T (p.Thr2034Ile)
c.6068C>T (p.Thr2023Ile)
c.6038C>T (p.Thr2013Ile)
c.6035C>T (p.Thr2012Ile)
c.5987C>T (p.Thr1996Ile)
c.5951C>T (p.Thr1984Ile)
c.5948C>T (p.Thr1983Ile)
c.5903C>T (p.Thr1968Ile)
n.6568C>T
 dbSNP ExAC gnomAD v4
Xg.77574307G>CCA413701096ATRXc.6269C>G (p.Thr2090Ser)
c.1367C>G (p.Thr456Ser)
c.6155C>G (p.Thr2052Ser)
c.*5897C>G (n.*5897C>G)
c.753C>G
n.3339C>G
c.6266C>G (p.Thr2089Ser)
c.6182C>G (p.Thr2061Ser)
c.6152C>G (p.Thr2051Ser)
c.6104C>G (p.Thr2035Ser)
c.6065C>G (p.Thr2022Ser)
c.5990C>G (p.Thr1997Ser)
n.6611C>G
c.6179C>G (p.Thr2060Ser)
c.6149C>G (p.Thr2050Ser)
c.6101C>G (p.Thr2034Ser)
c.6068C>G (p.Thr2023Ser)
c.6038C>G (p.Thr2013Ser)
c.6035C>G (p.Thr2012Ser)
c.5987C>G (p.Thr1996Ser)
c.5951C>G (p.Thr1984Ser)
c.5948C>G (p.Thr1983Ser)
c.5903C>G (p.Thr1968Ser)
n.6568C>G
Xg.77574307G=CA2438951398ATRXc.6269C= (p.Thr2090=)
c.1367C= (p.Thr456=)
c.6155C= (p.Thr2052=)
c.*5897C= (n.*5897C=)
c.753C=
n.3339C=
c.6266C= (p.Thr2089=)
c.6182C= (p.Thr2061=)
c.6152C= (p.Thr2051=)
c.6104C= (p.Thr2035=)
c.6065C= (p.Thr2022=)
c.5990C= (p.Thr1997=)
n.6611C=
c.6179C= (p.Thr2060=)
c.6149C= (p.Thr2050=)
c.6101C= (p.Thr2034=)
c.6068C= (p.Thr2023=)
c.6038C= (p.Thr2013=)
c.6035C= (p.Thr2012=)
c.5987C= (p.Thr1996=)
c.5951C= (p.Thr1984=)
c.5948C= (p.Thr1983=)
c.5903C= (p.Thr1968=)
n.6568C=
Xg.77574307G>TCA413701099ATRXc.6269C>A (p.Thr2090Asn)
c.1367C>A (p.Thr456Asn)
c.6155C>A (p.Thr2052Asn)
c.*5897C>A (n.*5897C>A)
c.753C>A
n.3339C>A
c.6266C>A (p.Thr2089Asn)
c.6182C>A (p.Thr2061Asn)
c.6152C>A (p.Thr2051Asn)
c.6104C>A (p.Thr2035Asn)
c.6065C>A (p.Thr2022Asn)
c.5990C>A (p.Thr1997Asn)
n.6611C>A
c.6179C>A (p.Thr2060Asn)
c.6149C>A (p.Thr2050Asn)
c.6101C>A (p.Thr2034Asn)
c.6068C>A (p.Thr2023Asn)
c.6038C>A (p.Thr2013Asn)
c.6035C>A (p.Thr2012Asn)
c.5987C>A (p.Thr1996Asn)
c.5951C>A (p.Thr1984Asn)
c.5948C>A (p.Thr1983Asn)
c.5903C>A (p.Thr1968Asn)
n.6568C>A
Xg.77574308T>ACA413701100ATRXc.6268A>T (p.Thr2090Ser)
c.1366A>T (p.Thr456Ser)
c.6154A>T (p.Thr2052Ser)
c.*5896A>T (n.*5896A>T)
c.752A>T
n.3338A>T
c.6265A>T (p.Thr2089Ser)
c.6181A>T (p.Thr2061Ser)
c.6151A>T (p.Thr2051Ser)
c.6103A>T (p.Thr2035Ser)
c.6064A>T (p.Thr2022Ser)
c.5989A>T (p.Thr1997Ser)
n.6610A>T
c.6178A>T (p.Thr2060Ser)
c.6148A>T (p.Thr2050Ser)
c.6100A>T (p.Thr2034Ser)
c.6067A>T (p.Thr2023Ser)
c.6037A>T (p.Thr2013Ser)
c.6034A>T (p.Thr2012Ser)
c.5986A>T (p.Thr1996Ser)
c.5950A>T (p.Thr1984Ser)
c.5947A>T (p.Thr1983Ser)
c.5902A>T (p.Thr1968Ser)
n.6567A>T
Xg.77574308T>CCA413701103ATRXc.6268A>G (p.Thr2090Ala)
c.1366A>G (p.Thr456Ala)
c.6154A>G (p.Thr2052Ala)
c.*5896A>G (n.*5896A>G)
c.752A>G
n.3338A>G
c.6265A>G (p.Thr2089Ala)
c.6181A>G (p.Thr2061Ala)
c.6151A>G (p.Thr2051Ala)
c.6103A>G (p.Thr2035Ala)
c.6064A>G (p.Thr2022Ala)
c.5989A>G (p.Thr1997Ala)
n.6610A>G
c.6178A>G (p.Thr2060Ala)
c.6148A>G (p.Thr2050Ala)
c.6100A>G (p.Thr2034Ala)
c.6067A>G (p.Thr2023Ala)
c.6037A>G (p.Thr2013Ala)
c.6034A>G (p.Thr2012Ala)
c.5986A>G (p.Thr1996Ala)
c.5950A>G (p.Thr1984Ala)
c.5947A>G (p.Thr1983Ala)
c.5902A>G (p.Thr1968Ala)
n.6567A>G
 gnomAD v4
Xg.77574308T>GCA413701106ATRXc.6268A>C (p.Thr2090Pro)
c.1366A>C (p.Thr456Pro)
c.6154A>C (p.Thr2052Pro)
c.*5896A>C (n.*5896A>C)
c.752A>C
n.3338A>C
c.6265A>C (p.Thr2089Pro)
c.6181A>C (p.Thr2061Pro)
c.6151A>C (p.Thr2051Pro)
c.6103A>C (p.Thr2035Pro)
c.6064A>C (p.Thr2022Pro)
c.5989A>C (p.Thr1997Pro)
n.6610A>C
c.6178A>C (p.Thr2060Pro)
c.6148A>C (p.Thr2050Pro)
c.6100A>C (p.Thr2034Pro)
c.6067A>C (p.Thr2023Pro)
c.6037A>C (p.Thr2013Pro)
c.6034A>C (p.Thr2012Pro)
c.5986A>C (p.Thr1996Pro)
c.5950A>C (p.Thr1984Pro)
c.5947A>C (p.Thr1983Pro)
c.5902A>C (p.Thr1968Pro)
n.6567A>C
Xg.77574309G>ACA517374788ATRXc.6267C>T (p.Ser2089=)
c.1365C>T (p.Ser455=)
c.6153C>T (p.Ser2051=)
c.*5895C>T (n.*5895C>T)
c.751C>T
n.3337C>T
c.6264C>T (p.Ser2088=)
c.6180C>T (p.Ser2060=)
c.6150C>T (p.Ser2050=)
c.6102C>T (p.Ser2034=)
c.6063C>T (p.Ser2021=)
c.5988C>T (p.Ser1996=)
n.6609C>T
c.6177C>T (p.Ser2059=)
c.6147C>T (p.Ser2049=)
c.6099C>T (p.Ser2033=)
c.6066C>T (p.Ser2022=)
c.6036C>T (p.Ser2012=)
c.6033C>T (p.Ser2011=)
c.5985C>T (p.Ser1995=)
c.5949C>T (p.Ser1983=)
c.5946C>T (p.Ser1982=)
c.5901C>T (p.Ser1967=)
n.6566C>T
 ClinVar dbSNP
Xg.77574309G>CCA517374790ATRXc.6267C>G (p.Ser2089=)
c.1365C>G (p.Ser455=)
c.6153C>G (p.Ser2051=)
c.*5895C>G (n.*5895C>G)
c.751C>G
n.3337C>G
c.6264C>G (p.Ser2088=)
c.6180C>G (p.Ser2060=)
c.6150C>G (p.Ser2050=)
c.6102C>G (p.Ser2034=)
c.6063C>G (p.Ser2021=)
c.5988C>G (p.Ser1996=)
n.6609C>G
c.6177C>G (p.Ser2059=)
c.6147C>G (p.Ser2049=)
c.6099C>G (p.Ser2033=)
c.6066C>G (p.Ser2022=)
c.6036C>G (p.Ser2012=)
c.6033C>G (p.Ser2011=)
c.5985C>G (p.Ser1995=)
c.5949C>G (p.Ser1983=)
c.5946C>G (p.Ser1982=)
c.5901C>G (p.Ser1967=)
n.6566C>G
Xg.77574309G>TCA517374791ATRXc.6267C>A (p.Ser2089=)
c.1365C>A (p.Ser455=)
c.6153C>A (p.Ser2051=)
c.*5895C>A (n.*5895C>A)
c.751C>A
n.3337C>A
c.6264C>A (p.Ser2088=)
c.6180C>A (p.Ser2060=)
c.6150C>A (p.Ser2050=)
c.6102C>A (p.Ser2034=)
c.6063C>A (p.Ser2021=)
c.5988C>A (p.Ser1996=)
n.6609C>A
c.6177C>A (p.Ser2059=)
c.6147C>A (p.Ser2049=)
c.6099C>A (p.Ser2033=)
c.6066C>A (p.Ser2022=)
c.6036C>A (p.Ser2012=)
c.6033C>A (p.Ser2011=)
c.5985C>A (p.Ser1995=)
c.5949C>A (p.Ser1983=)
c.5946C>A (p.Ser1982=)
c.5901C>A (p.Ser1967=)
n.6566C>A
Xg.77574310G>ACA413701113ATRXc.6266C>T (p.Ser2089Phe)
c.1364C>T (p.Ser455Phe)
c.6152C>T (p.Ser2051Phe)
c.*5894C>T (n.*5894C>T)
c.750C>T
n.3336C>T
c.6263C>T (p.Ser2088Phe)
c.6179C>T (p.Ser2060Phe)
c.6149C>T (p.Ser2050Phe)
c.6101C>T (p.Ser2034Phe)
c.6062C>T (p.Ser2021Phe)
c.5987C>T (p.Ser1996Phe)
n.6608C>T
c.6176C>T (p.Ser2059Phe)
c.6146C>T (p.Ser2049Phe)
c.6098C>T (p.Ser2033Phe)
c.6065C>T (p.Ser2022Phe)
c.6035C>T (p.Ser2012Phe)
c.6032C>T (p.Ser2011Phe)
c.5984C>T (p.Ser1995Phe)
c.5948C>T (p.Ser1983Phe)
c.5945C>T (p.Ser1982Phe)
c.5900C>T (p.Ser1967Phe)
n.6565C>T
 COSMIC COSMIC
Xg.77574310G>CCA413701116ATRXc.6266C>G (p.Ser2089Cys)
c.1364C>G (p.Ser455Cys)
c.6152C>G (p.Ser2051Cys)
c.*5894C>G (n.*5894C>G)
c.750C>G
n.3336C>G
c.6263C>G (p.Ser2088Cys)
c.6179C>G (p.Ser2060Cys)
c.6149C>G (p.Ser2050Cys)
c.6101C>G (p.Ser2034Cys)
c.6062C>G (p.Ser2021Cys)
c.5987C>G (p.Ser1996Cys)
n.6608C>G
c.6176C>G (p.Ser2059Cys)
c.6146C>G (p.Ser2049Cys)
c.6098C>G (p.Ser2033Cys)
c.6065C>G (p.Ser2022Cys)
c.6035C>G (p.Ser2012Cys)
c.6032C>G (p.Ser2011Cys)
c.5984C>G (p.Ser1995Cys)
c.5948C>G (p.Ser1983Cys)
c.5945C>G (p.Ser1982Cys)
c.5900C>G (p.Ser1967Cys)
n.6565C>G
Xg.77574310G>TCA413701114ATRXc.6266C>A (p.Ser2089Tyr)
c.1364C>A (p.Ser455Tyr)
c.6152C>A (p.Ser2051Tyr)
c.*5894C>A (n.*5894C>A)
c.750C>A
n.3336C>A
c.6263C>A (p.Ser2088Tyr)
c.6179C>A (p.Ser2060Tyr)
c.6149C>A (p.Ser2050Tyr)
c.6101C>A (p.Ser2034Tyr)
c.6062C>A (p.Ser2021Tyr)
c.5987C>A (p.Ser1996Tyr)
n.6608C>A
c.6176C>A (p.Ser2059Tyr)
c.6146C>A (p.Ser2049Tyr)
c.6098C>A (p.Ser2033Tyr)
c.6065C>A (p.Ser2022Tyr)
c.6035C>A (p.Ser2012Tyr)
c.6032C>A (p.Ser2011Tyr)
c.5984C>A (p.Ser1995Tyr)
c.5948C>A (p.Ser1983Tyr)
c.5945C>A (p.Ser1982Tyr)
c.5900C>A (p.Ser1967Tyr)
n.6565C>A
Xg.77574311A>CCA413701118ATRXc.6265T>G (p.Ser2089Ala)
n.100T>G
c.1363T>G (p.Ser455Ala)
c.6151T>G (p.Ser2051Ala)
c.*5893T>G (n.*5893T>G)
c.749T>G
n.3335T>G
c.6262T>G (p.Ser2088Ala)
c.6178T>G (p.Ser2060Ala)
c.6148T>G (p.Ser2050Ala)
c.6100T>G (p.Ser2034Ala)
c.6061T>G (p.Ser2021Ala)
c.5986T>G (p.Ser1996Ala)
n.6607T>G
c.6175T>G (p.Ser2059Ala)
c.6145T>G (p.Ser2049Ala)
c.6097T>G (p.Ser2033Ala)
c.6064T>G (p.Ser2022Ala)
c.6034T>G (p.Ser2012Ala)
c.6031T>G (p.Ser2011Ala)
c.5983T>G (p.Ser1995Ala)
c.5947T>G (p.Ser1983Ala)
c.5944T>G (p.Ser1982Ala)
c.5899T>G (p.Ser1967Ala)
n.6564T>G
Xg.77574311A>GCA413701121ATRXc.6265T>C (p.Ser2089Pro)
n.100T>C
c.1363T>C (p.Ser455Pro)
c.6151T>C (p.Ser2051Pro)
c.*5893T>C (n.*5893T>C)
c.749T>C
n.3335T>C
c.6262T>C (p.Ser2088Pro)
c.6178T>C (p.Ser2060Pro)
c.6148T>C (p.Ser2050Pro)
c.6100T>C (p.Ser2034Pro)
c.6061T>C (p.Ser2021Pro)
c.5986T>C (p.Ser1996Pro)
n.6607T>C
c.6175T>C (p.Ser2059Pro)
c.6145T>C (p.Ser2049Pro)
c.6097T>C (p.Ser2033Pro)
c.6064T>C (p.Ser2022Pro)
c.6034T>C (p.Ser2012Pro)
c.6031T>C (p.Ser2011Pro)
c.5983T>C (p.Ser1995Pro)
c.5947T>C (p.Ser1983Pro)
c.5944T>C (p.Ser1982Pro)
c.5899T>C (p.Ser1967Pro)
n.6564T>C
Xg.77574311A>TCA413701123ATRXc.6265T>A (p.Ser2089Thr)
n.100T>A
c.1363T>A (p.Ser455Thr)
c.6151T>A (p.Ser2051Thr)
c.*5893T>A (n.*5893T>A)
c.749T>A
n.3335T>A
c.6262T>A (p.Ser2088Thr)
c.6178T>A (p.Ser2060Thr)
c.6148T>A (p.Ser2050Thr)
c.6100T>A (p.Ser2034Thr)
c.6061T>A (p.Ser2021Thr)
c.5986T>A (p.Ser1996Thr)
n.6607T>A
c.6175T>A (p.Ser2059Thr)
c.6145T>A (p.Ser2049Thr)
c.6097T>A (p.Ser2033Thr)
c.6064T>A (p.Ser2022Thr)
c.6034T>A (p.Ser2012Thr)
c.6031T>A (p.Ser2011Thr)
c.5983T>A (p.Ser1995Thr)
c.5947T>A (p.Ser1983Thr)
c.5944T>A (p.Ser1982Thr)
c.5899T>A (p.Ser1967Thr)
n.6564T>A
Xg.77574312A>CCA517374793ATRXc.6264T>G (p.Gly2088=)
n.99T>G
c.1362T>G (p.Gly454=)
c.6150T>G (p.Gly2050=)
c.*5892T>G (n.*5892T>G)
c.748T>G
n.3334T>G
c.6261T>G (p.Gly2087=)
c.6177T>G (p.Gly2059=)
c.6147T>G (p.Gly2049=)
c.6099T>G (p.Gly2033=)
c.6060T>G (p.Gly2020=)
c.5985T>G (p.Gly1995=)
n.6606T>G
c.6174T>G (p.Gly2058=)
c.6144T>G (p.Gly2048=)
c.6096T>G (p.Gly2032=)
c.6063T>G (p.Gly2021=)
c.6033T>G (p.Gly2011=)
c.6030T>G (p.Gly2010=)
c.5982T>G (p.Gly1994=)
c.5946T>G (p.Gly1982=)
c.5943T>G (p.Gly1981=)
c.5898T>G (p.Gly1966=)
n.6563T>G
Xg.77574312A>GCA517374794ATRXc.6264T>C (p.Gly2088=)
n.99T>C
c.1362T>C (p.Gly454=)
c.6150T>C (p.Gly2050=)
c.*5892T>C (n.*5892T>C)
c.748T>C
n.3334T>C
c.6261T>C (p.Gly2087=)
c.6177T>C (p.Gly2059=)
c.6147T>C (p.Gly2049=)
c.6099T>C (p.Gly2033=)
c.6060T>C (p.Gly2020=)
c.5985T>C (p.Gly1995=)
n.6606T>C
c.6174T>C (p.Gly2058=)
c.6144T>C (p.Gly2048=)
c.6096T>C (p.Gly2032=)
c.6063T>C (p.Gly2021=)
c.6033T>C (p.Gly2011=)
c.6030T>C (p.Gly2010=)
c.5982T>C (p.Gly1994=)
c.5946T>C (p.Gly1982=)
c.5943T>C (p.Gly1981=)
c.5898T>C (p.Gly1966=)
n.6563T>C
 gnomAD v4
Xg.77574312A>TCA517374795ATRXc.6264T>A (p.Gly2088=)
n.99T>A
c.1362T>A (p.Gly454=)
c.6150T>A (p.Gly2050=)
c.*5892T>A (n.*5892T>A)
c.748T>A
n.3334T>A
c.6261T>A (p.Gly2087=)
c.6177T>A (p.Gly2059=)
c.6147T>A (p.Gly2049=)
c.6099T>A (p.Gly2033=)
c.6060T>A (p.Gly2020=)
c.5985T>A (p.Gly1995=)
n.6606T>A
c.6174T>A (p.Gly2058=)
c.6144T>A (p.Gly2048=)
c.6096T>A (p.Gly2032=)
c.6063T>A (p.Gly2021=)
c.6033T>A (p.Gly2011=)
c.6030T>A (p.Gly2010=)
c.5982T>A (p.Gly1994=)
c.5946T>A (p.Gly1982=)
c.5943T>A (p.Gly1981=)
c.5898T>A (p.Gly1966=)
n.6563T>A
Xg.77574313C>ACA413701125ATRXc.6263G>T (p.Gly2088Val)
n.98G>T
c.1361G>T (p.Gly454Val)
c.6149G>T (p.Gly2050Val)
c.*5891G>T (n.*5891G>T)
c.747G>T
n.3333G>T
c.6260G>T (p.Gly2087Val)
c.6176G>T (p.Gly2059Val)
c.6146G>T (p.Gly2049Val)
c.6098G>T (p.Gly2033Val)
c.6059G>T (p.Gly2020Val)
c.5984G>T (p.Gly1995Val)
n.6605G>T
c.6173G>T (p.Gly2058Val)
c.6143G>T (p.Gly2048Val)
c.6095G>T (p.Gly2032Val)
c.6062G>T (p.Gly2021Val)
c.6032G>T (p.Gly2011Val)
c.6029G>T (p.Gly2010Val)
c.5981G>T (p.Gly1994Val)
c.5945G>T (p.Gly1982Val)
c.5942G>T (p.Gly1981Val)
c.5897G>T (p.Gly1966Val)
n.6562G>T
Xg.77574313C>GCA413701127ATRXc.6263G>C (p.Gly2088Ala)
n.98G>C
c.1361G>C (p.Gly454Ala)
c.6149G>C (p.Gly2050Ala)
c.*5891G>C (n.*5891G>C)
c.747G>C
n.3333G>C
c.6260G>C (p.Gly2087Ala)
c.6176G>C (p.Gly2059Ala)
c.6146G>C (p.Gly2049Ala)
c.6098G>C (p.Gly2033Ala)
c.6059G>C (p.Gly2020Ala)
c.5984G>C (p.Gly1995Ala)
n.6605G>C
c.6173G>C (p.Gly2058Ala)
c.6143G>C (p.Gly2048Ala)
c.6095G>C (p.Gly2032Ala)
c.6062G>C (p.Gly2021Ala)
c.6032G>C (p.Gly2011Ala)
c.6029G>C (p.Gly2010Ala)
c.5981G>C (p.Gly1994Ala)
c.5945G>C (p.Gly1982Ala)
c.5942G>C (p.Gly1981Ala)
c.5897G>C (p.Gly1966Ala)
n.6562G>C
Xg.77574313C>TCA413701129ATRXc.6263G>A (p.Gly2088Asp)
n.98G>A
c.1361G>A (p.Gly454Asp)
c.6149G>A (p.Gly2050Asp)
c.*5891G>A (n.*5891G>A)
c.747G>A
n.3333G>A
c.6260G>A (p.Gly2087Asp)
c.6176G>A (p.Gly2059Asp)
c.6146G>A (p.Gly2049Asp)
c.6098G>A (p.Gly2033Asp)
c.6059G>A (p.Gly2020Asp)
c.5984G>A (p.Gly1995Asp)
n.6605G>A
c.6173G>A (p.Gly2058Asp)
c.6143G>A (p.Gly2048Asp)
c.6095G>A (p.Gly2032Asp)
c.6062G>A (p.Gly2021Asp)
c.6032G>A (p.Gly2011Asp)
c.6029G>A (p.Gly2010Asp)
c.5981G>A (p.Gly1994Asp)
c.5945G>A (p.Gly1982Asp)
c.5942G>A (p.Gly1981Asp)
c.5897G>A (p.Gly1966Asp)
n.6562G>A
Xg.77574314C>ACA413701131ATRXc.6262G>T (p.Gly2088Cys)
n.97G>T
c.1360G>T (p.Gly454Cys)
c.6148G>T (p.Gly2050Cys)
c.*5890G>T (n.*5890G>T)
c.746G>T
n.3332G>T
c.6259G>T (p.Gly2087Cys)
c.6175G>T (p.Gly2059Cys)
c.6145G>T (p.Gly2049Cys)
c.6097G>T (p.Gly2033Cys)
c.6058G>T (p.Gly2020Cys)
c.5983G>T (p.Gly1995Cys)
n.6604G>T
c.6172G>T (p.Gly2058Cys)
c.6142G>T (p.Gly2048Cys)
c.6094G>T (p.Gly2032Cys)
c.6061G>T (p.Gly2021Cys)
c.6031G>T (p.Gly2011Cys)
c.6028G>T (p.Gly2010Cys)
c.5980G>T (p.Gly1994Cys)
c.5944G>T (p.Gly1982Cys)
c.5941G>T (p.Gly1981Cys)
c.5896G>T (p.Gly1966Cys)
n.6561G>T
Xg.77574314C>GCA413701133ATRXc.6262G>C (p.Gly2088Arg)
n.97G>C
c.1360G>C (p.Gly454Arg)
c.6148G>C (p.Gly2050Arg)
c.*5890G>C (n.*5890G>C)
c.746G>C
n.3332G>C
c.6259G>C (p.Gly2087Arg)
c.6175G>C (p.Gly2059Arg)
c.6145G>C (p.Gly2049Arg)
c.6097G>C (p.Gly2033Arg)
c.6058G>C (p.Gly2020Arg)
c.5983G>C (p.Gly1995Arg)
n.6604G>C
c.6172G>C (p.Gly2058Arg)
c.6142G>C (p.Gly2048Arg)
c.6094G>C (p.Gly2032Arg)
c.6061G>C (p.Gly2021Arg)
c.6031G>C (p.Gly2011Arg)
c.6028G>C (p.Gly2010Arg)
c.5980G>C (p.Gly1994Arg)
c.5944G>C (p.Gly1982Arg)
c.5941G>C (p.Gly1981Arg)
c.5896G>C (p.Gly1966Arg)
n.6561G>C
Xg.77574314C>TCA413701135ATRXc.6262G>A (p.Gly2088Ser)
n.97G>A
c.1360G>A (p.Gly454Ser)
c.6148G>A (p.Gly2050Ser)
c.*5890G>A (n.*5890G>A)
c.746G>A
n.3332G>A
c.6259G>A (p.Gly2087Ser)
c.6175G>A (p.Gly2059Ser)
c.6145G>A (p.Gly2049Ser)
c.6097G>A (p.Gly2033Ser)
c.6058G>A (p.Gly2020Ser)
c.5983G>A (p.Gly1995Ser)
n.6604G>A
c.6172G>A (p.Gly2058Ser)
c.6142G>A (p.Gly2048Ser)
c.6094G>A (p.Gly2032Ser)
c.6061G>A (p.Gly2021Ser)
c.6031G>A (p.Gly2011Ser)
c.6028G>A (p.Gly2010Ser)
c.5980G>A (p.Gly1994Ser)
c.5944G>A (p.Gly1982Ser)
c.5941G>A (p.Gly1981Ser)
c.5896G>A (p.Gly1966Ser)
n.6561G>A
Xg.77574315A>CCA413701137ATRXc.6261T>G (p.Asp2087Glu)
n.96T>G
c.1359T>G (p.Asp453Glu)
c.6147T>G (p.Asp2049Glu)
c.*5889T>G (n.*5889T>G)
c.745T>G
n.3331T>G
c.6258T>G (p.Asp2086Glu)
c.6174T>G (p.Asp2058Glu)
c.6144T>G (p.Asp2048Glu)
c.6096T>G (p.Asp2032Glu)
c.6057T>G (p.Asp2019Glu)
c.5982T>G (p.Asp1994Glu)
n.6603T>G
c.6171T>G (p.Asp2057Glu)
c.6141T>G (p.Asp2047Glu)
c.6093T>G (p.Asp2031Glu)
c.6060T>G (p.Asp2020Glu)
c.6030T>G (p.Asp2010Glu)
c.6027T>G (p.Asp2009Glu)
c.5979T>G (p.Asp1993Glu)
c.5943T>G (p.Asp1981Glu)
c.5940T>G (p.Asp1980Glu)
c.5895T>G (p.Asp1965Glu)
n.6560T>G
Xg.77574315A>GCA517374796ATRXc.6261T>C (p.Asp2087=)
n.96T>C
c.1359T>C (p.Asp453=)
c.6147T>C (p.Asp2049=)
c.*5889T>C (n.*5889T>C)
c.745T>C
n.3331T>C
c.6258T>C (p.Asp2086=)
c.6174T>C (p.Asp2058=)
c.6144T>C (p.Asp2048=)
c.6096T>C (p.Asp2032=)
c.6057T>C (p.Asp2019=)
c.5982T>C (p.Asp1994=)
n.6603T>C
c.6171T>C (p.Asp2057=)
c.6141T>C (p.Asp2047=)
c.6093T>C (p.Asp2031=)
c.6060T>C (p.Asp2020=)
c.6030T>C (p.Asp2010=)
c.6027T>C (p.Asp2009=)
c.5979T>C (p.Asp1993=)
c.5943T>C (p.Asp1981=)
c.5940T>C (p.Asp1980=)
c.5895T>C (p.Asp1965=)
n.6560T>C
Xg.77574315A>TCA413701139ATRXc.6261T>A (p.Asp2087Glu)
n.96T>A
c.1359T>A (p.Asp453Glu)
c.6147T>A (p.Asp2049Glu)
c.*5889T>A (n.*5889T>A)
c.745T>A
n.3331T>A
c.6258T>A (p.Asp2086Glu)
c.6174T>A (p.Asp2058Glu)
c.6144T>A (p.Asp2048Glu)
c.6096T>A (p.Asp2032Glu)
c.6057T>A (p.Asp2019Glu)
c.5982T>A (p.Asp1994Glu)
n.6603T>A
c.6171T>A (p.Asp2057Glu)
c.6141T>A (p.Asp2047Glu)
c.6093T>A (p.Asp2031Glu)
c.6060T>A (p.Asp2020Glu)
c.6030T>A (p.Asp2010Glu)
c.6027T>A (p.Asp2009Glu)
c.5979T>A (p.Asp1993Glu)
c.5943T>A (p.Asp1981Glu)
c.5940T>A (p.Asp1980Glu)
c.5895T>A (p.Asp1965Glu)
n.6560T>A
Xg.77574316T>ACA413701146ATRXc.6260A>T (p.Asp2087Val)
n.95A>T
c.1358A>T (p.Asp453Val)
c.6146A>T (p.Asp2049Val)
c.*5888A>T (n.*5888A>T)
c.744A>T
n.3330A>T
c.6257A>T (p.Asp2086Val)
c.6173A>T (p.Asp2058Val)
c.6143A>T (p.Asp2048Val)
c.6095A>T (p.Asp2032Val)
c.6056A>T (p.Asp2019Val)
c.5981A>T (p.Asp1994Val)
n.6602A>T
c.6170A>T (p.Asp2057Val)
c.6140A>T (p.Asp2047Val)
c.6092A>T (p.Asp2031Val)
c.6059A>T (p.Asp2020Val)
c.6029A>T (p.Asp2010Val)
c.6026A>T (p.Asp2009Val)
c.5978A>T (p.Asp1993Val)
c.5942A>T (p.Asp1981Val)
c.5939A>T (p.Asp1980Val)
c.5894A>T (p.Asp1965Val)
n.6559A>T
Xg.77574316T>CCA413701144ATRXc.6260A>G (p.Asp2087Gly)
n.95A>G
c.1358A>G (p.Asp453Gly)
c.6146A>G (p.Asp2049Gly)
c.*5888A>G (n.*5888A>G)
c.744A>G
n.3330A>G
c.6257A>G (p.Asp2086Gly)
c.6173A>G (p.Asp2058Gly)
c.6143A>G (p.Asp2048Gly)
c.6095A>G (p.Asp2032Gly)
c.6056A>G (p.Asp2019Gly)
c.5981A>G (p.Asp1994Gly)
n.6602A>G
c.6170A>G (p.Asp2057Gly)
c.6140A>G (p.Asp2047Gly)
c.6092A>G (p.Asp2031Gly)
c.6059A>G (p.Asp2020Gly)
c.6029A>G (p.Asp2010Gly)
c.6026A>G (p.Asp2009Gly)
c.5978A>G (p.Asp1993Gly)
c.5942A>G (p.Asp1981Gly)
c.5939A>G (p.Asp1980Gly)
c.5894A>G (p.Asp1965Gly)
n.6559A>G
Xg.77574316T>GCA413701142ATRXc.6260A>C (p.Asp2087Ala)
n.95A>C
c.1358A>C (p.Asp453Ala)
c.6146A>C (p.Asp2049Ala)
c.*5888A>C (n.*5888A>C)
c.744A>C
n.3330A>C
c.6257A>C (p.Asp2086Ala)
c.6173A>C (p.Asp2058Ala)
c.6143A>C (p.Asp2048Ala)
c.6095A>C (p.Asp2032Ala)
c.6056A>C (p.Asp2019Ala)
c.5981A>C (p.Asp1994Ala)
n.6602A>C
c.6170A>C (p.Asp2057Ala)
c.6140A>C (p.Asp2047Ala)
c.6092A>C (p.Asp2031Ala)
c.6059A>C (p.Asp2020Ala)
c.6029A>C (p.Asp2010Ala)
c.6026A>C (p.Asp2009Ala)
c.5978A>C (p.Asp1993Ala)
c.5942A>C (p.Asp1981Ala)
c.5939A>C (p.Asp1980Ala)
c.5894A>C (p.Asp1965Ala)
n.6559A>C
Xg.77574317C>ACA413701149ATRXc.6259G>T (p.Asp2087Tyr)
n.94G>T
c.1357G>T (p.Asp453Tyr)
c.6145G>T (p.Asp2049Tyr)
c.*5887G>T (n.*5887G>T)
c.743G>T
n.3329G>T
c.6256G>T (p.Asp2086Tyr)
c.6172G>T (p.Asp2058Tyr)
c.6142G>T (p.Asp2048Tyr)
c.6094G>T (p.Asp2032Tyr)
c.6055G>T (p.Asp2019Tyr)
c.5980G>T (p.Asp1994Tyr)
n.6601G>T
c.6169G>T (p.Asp2057Tyr)
c.6139G>T (p.Asp2047Tyr)
c.6091G>T (p.Asp2031Tyr)
c.6058G>T (p.Asp2020Tyr)
c.6028G>T (p.Asp2010Tyr)
c.6025G>T (p.Asp2009Tyr)
c.5977G>T (p.Asp1993Tyr)
c.5941G>T (p.Asp1981Tyr)
c.5938G>T (p.Asp1980Tyr)
c.5893G>T (p.Asp1965Tyr)
n.6558G>T
Xg.77574317C>GCA413701152ATRXc.6259G>C (p.Asp2087His)
n.94G>C
c.1357G>C (p.Asp453His)
c.6145G>C (p.Asp2049His)
c.*5887G>C (n.*5887G>C)
c.743G>C
n.3329G>C
c.6256G>C (p.Asp2086His)
c.6172G>C (p.Asp2058His)
c.6142G>C (p.Asp2048His)
c.6094G>C (p.Asp2032His)
c.6055G>C (p.Asp2019His)
c.5980G>C (p.Asp1994His)
n.6601G>C
c.6169G>C (p.Asp2057His)
c.6139G>C (p.Asp2047His)
c.6091G>C (p.Asp2031His)
c.6058G>C (p.Asp2020His)
c.6028G>C (p.Asp2010His)
c.6025G>C (p.Asp2009His)
c.5977G>C (p.Asp1993His)
c.5941G>C (p.Asp1981His)
c.5938G>C (p.Asp1980His)
c.5893G>C (p.Asp1965His)
n.6558G>C
Xg.77574317C>TCA413701150ATRXc.6259G>A (p.Asp2087Asn)
n.94G>A
c.1357G>A (p.Asp453Asn)
c.6145G>A (p.Asp2049Asn)
c.*5887G>A (n.*5887G>A)
c.743G>A
n.3329G>A
c.6256G>A (p.Asp2086Asn)
c.6172G>A (p.Asp2058Asn)
c.6142G>A (p.Asp2048Asn)
c.6094G>A (p.Asp2032Asn)
c.6055G>A (p.Asp2019Asn)
c.5980G>A (p.Asp1994Asn)
n.6601G>A
c.6169G>A (p.Asp2057Asn)
c.6139G>A (p.Asp2047Asn)
c.6091G>A (p.Asp2031Asn)
c.6058G>A (p.Asp2020Asn)
c.6028G>A (p.Asp2010Asn)
c.6025G>A (p.Asp2009Asn)
c.5977G>A (p.Asp1993Asn)
c.5941G>A (p.Asp1981Asn)
c.5938G>A (p.Asp1980Asn)
c.5893G>A (p.Asp1965Asn)
n.6558G>A
Xg.77574318T>ACA413701155ATRXc.6258A>T (p.Leu2086Phe)
n.93A>T
c.1356A>T (p.Leu452Phe)
c.6144A>T (p.Leu2048Phe)
c.*5886A>T (n.*5886A>T)
c.742A>T
n.3328A>T
c.6255A>T (p.Leu2085Phe)
c.6171A>T (p.Leu2057Phe)
c.6141A>T (p.Leu2047Phe)
c.6093A>T (p.Leu2031Phe)
c.6054A>T (p.Leu2018Phe)
c.5979A>T (p.Leu1993Phe)
n.6600A>T
c.6168A>T (p.Leu2056Phe)
c.6138A>T (p.Leu2046Phe)
c.6090A>T (p.Leu2030Phe)
c.6057A>T (p.Leu2019Phe)
c.6027A>T (p.Leu2009Phe)
c.6024A>T (p.Leu2008Phe)
c.5976A>T (p.Leu1992Phe)
c.5940A>T (p.Leu1980Phe)
c.5937A>T (p.Leu1979Phe)
c.5892A>T (p.Leu1964Phe)
n.6557A>T
Xg.77574318T>CCA517374798ATRXc.6258A>G (p.Leu2086=)
n.93A>G
c.1356A>G (p.Leu452=)
c.6144A>G (p.Leu2048=)
c.*5886A>G (n.*5886A>G)
c.742A>G
n.3328A>G
c.6255A>G (p.Leu2085=)
c.6171A>G (p.Leu2057=)
c.6141A>G (p.Leu2047=)
c.6093A>G (p.Leu2031=)
c.6054A>G (p.Leu2018=)
c.5979A>G (p.Leu1993=)
n.6600A>G
c.6168A>G (p.Leu2056=)
c.6138A>G (p.Leu2046=)
c.6090A>G (p.Leu2030=)
c.6057A>G (p.Leu2019=)
c.6027A>G (p.Leu2009=)
c.6024A>G (p.Leu2008=)
c.5976A>G (p.Leu1992=)
c.5940A>G (p.Leu1980=)
c.5937A>G (p.Leu1979=)
c.5892A>G (p.Leu1964=)
n.6557A>G
 gnomAD v4
Xg.77574318T>GCA413701157ATRXc.6258A>C (p.Leu2086Phe)
n.93A>C
c.1356A>C (p.Leu452Phe)
c.6144A>C (p.Leu2048Phe)
c.*5886A>C (n.*5886A>C)
c.742A>C
n.3328A>C
c.6255A>C (p.Leu2085Phe)
c.6171A>C (p.Leu2057Phe)
c.6141A>C (p.Leu2047Phe)
c.6093A>C (p.Leu2031Phe)
c.6054A>C (p.Leu2018Phe)
c.5979A>C (p.Leu1993Phe)
n.6600A>C
c.6168A>C (p.Leu2056Phe)
c.6138A>C (p.Leu2046Phe)
c.6090A>C (p.Leu2030Phe)
c.6057A>C (p.Leu2019Phe)
c.6027A>C (p.Leu2009Phe)
c.6024A>C (p.Leu2008Phe)
c.5976A>C (p.Leu1992Phe)
c.5940A>C (p.Leu1980Phe)
c.5937A>C (p.Leu1979Phe)
c.5892A>C (p.Leu1964Phe)
n.6557A>C
Xg.77574319A>CCA413701159ATRXc.6257T>G (p.Leu2086Ter)
n.92T>G
c.1355T>G (p.Leu452Ter)
c.6143T>G (p.Leu2048Ter)
c.*5885T>G (n.*5885T>G)
c.741T>G
n.3327T>G
c.6254T>G (p.Leu2085Ter)
c.6170T>G (p.Leu2057Ter)
c.6140T>G (p.Leu2047Ter)
c.6092T>G (p.Leu2031Ter)
c.6053T>G (p.Leu2018Ter)
c.5978T>G (p.Leu1993Ter)
n.6599T>G
c.6167T>G (p.Leu2056Ter)
c.6137T>G (p.Leu2046Ter)
c.6089T>G (p.Leu2030Ter)
c.6056T>G (p.Leu2019Ter)
c.6026T>G (p.Leu2009Ter)
c.6023T>G (p.Leu2008Ter)
c.5975T>G (p.Leu1992Ter)
c.5939T>G (p.Leu1980Ter)
c.5936T>G (p.Leu1979Ter)
c.5891T>G (p.Leu1964Ter)
n.6556T>G
Xg.77574319A>GCA413701160ATRXc.6257T>C (p.Leu2086Ser)
n.92T>C
c.1355T>C (p.Leu452Ser)
c.6143T>C (p.Leu2048Ser)
c.*5885T>C (n.*5885T>C)
c.741T>C
n.3327T>C
c.6254T>C (p.Leu2085Ser)
c.6170T>C (p.Leu2057Ser)
c.6140T>C (p.Leu2047Ser)
c.6092T>C (p.Leu2031Ser)
c.6053T>C (p.Leu2018Ser)
c.5978T>C (p.Leu1993Ser)
n.6599T>C
c.6167T>C (p.Leu2056Ser)
c.6137T>C (p.Leu2046Ser)
c.6089T>C (p.Leu2030Ser)
c.6056T>C (p.Leu2019Ser)
c.6026T>C (p.Leu2009Ser)
c.6023T>C (p.Leu2008Ser)
c.5975T>C (p.Leu1992Ser)
c.5939T>C (p.Leu1980Ser)
c.5936T>C (p.Leu1979Ser)
c.5891T>C (p.Leu1964Ser)
n.6556T>C
Xg.77574319A>TCA413701161ATRXc.6257T>A (p.Leu2086Ter)
n.92T>A
c.1355T>A (p.Leu452Ter)
c.6143T>A (p.Leu2048Ter)
c.*5885T>A (n.*5885T>A)
c.741T>A
n.3327T>A
c.6254T>A (p.Leu2085Ter)
c.6170T>A (p.Leu2057Ter)
c.6140T>A (p.Leu2047Ter)
c.6092T>A (p.Leu2031Ter)
c.6053T>A (p.Leu2018Ter)
c.5978T>A (p.Leu1993Ter)
n.6599T>A
c.6167T>A (p.Leu2056Ter)
c.6137T>A (p.Leu2046Ter)
c.6089T>A (p.Leu2030Ter)
c.6056T>A (p.Leu2019Ter)
c.6026T>A (p.Leu2009Ter)
c.6023T>A (p.Leu2008Ter)
c.5975T>A (p.Leu1992Ter)
c.5939T>A (p.Leu1980Ter)
c.5936T>A (p.Leu1979Ter)
c.5891T>A (p.Leu1964Ter)
n.6556T>A
Xg.77574320A>CCA413701162ATRXc.6256T>G (p.Leu2086Val)
n.91T>G
c.1354T>G (p.Leu452Val)
c.6142T>G (p.Leu2048Val)
c.*5884T>G (n.*5884T>G)
c.740T>G
n.3326T>G
c.6253T>G (p.Leu2085Val)
c.6169T>G (p.Leu2057Val)
c.6139T>G (p.Leu2047Val)
c.6091T>G (p.Leu2031Val)
c.6052T>G (p.Leu2018Val)
c.5977T>G (p.Leu1993Val)
n.6598T>G
c.6166T>G (p.Leu2056Val)
c.6136T>G (p.Leu2046Val)
c.6088T>G (p.Leu2030Val)
c.6055T>G (p.Leu2019Val)
c.6025T>G (p.Leu2009Val)
c.6022T>G (p.Leu2008Val)
c.5974T>G (p.Leu1992Val)
c.5938T>G (p.Leu1980Val)
c.5935T>G (p.Leu1979Val)
c.5890T>G (p.Leu1964Val)
n.6555T>G
Xg.77574320A>GCA517374799ATRXc.6256T>C (p.Leu2086=)
n.91T>C
c.1354T>C (p.Leu452=)
c.6142T>C (p.Leu2048=)
c.*5884T>C (n.*5884T>C)
c.740T>C
n.3326T>C
c.6253T>C (p.Leu2085=)
c.6169T>C (p.Leu2057=)
c.6139T>C (p.Leu2047=)
c.6091T>C (p.Leu2031=)
c.6052T>C (p.Leu2018=)
c.5977T>C (p.Leu1993=)
n.6598T>C
c.6166T>C (p.Leu2056=)
c.6136T>C (p.Leu2046=)
c.6088T>C (p.Leu2030=)
c.6055T>C (p.Leu2019=)
c.6025T>C (p.Leu2009=)
c.6022T>C (p.Leu2008=)
c.5974T>C (p.Leu1992=)
c.5938T>C (p.Leu1980=)
c.5935T>C (p.Leu1979=)
c.5890T>C (p.Leu1964=)
n.6555T>C
Xg.77574320A>TCA413701163ATRXc.6256T>A (p.Leu2086Ile)
n.91T>A
c.1354T>A (p.Leu452Ile)
c.6142T>A (p.Leu2048Ile)
c.*5884T>A (n.*5884T>A)
c.740T>A
n.3326T>A
c.6253T>A (p.Leu2085Ile)
c.6169T>A (p.Leu2057Ile)
c.6139T>A (p.Leu2047Ile)
c.6091T>A (p.Leu2031Ile)
c.6052T>A (p.Leu2018Ile)
c.5977T>A (p.Leu1993Ile)
n.6598T>A
c.6166T>A (p.Leu2056Ile)
c.6136T>A (p.Leu2046Ile)
c.6088T>A (p.Leu2030Ile)
c.6055T>A (p.Leu2019Ile)
c.6025T>A (p.Leu2009Ile)
c.6022T>A (p.Leu2008Ile)
c.5974T>A (p.Leu1992Ile)
c.5938T>A (p.Leu1980Ile)
c.5935T>A (p.Leu1979Ile)
c.5890T>A (p.Leu1964Ile)
n.6555T>A
Xg.77574321A>CCA517374801ATRXc.6255T>G (p.Arg2085=)
n.90T>G
c.1353T>G (p.Arg451=)
c.6141T>G (p.Arg2047=)
c.*5883T>G (n.*5883T>G)
c.739T>G
n.3325T>G
c.6252T>G (p.Arg2084=)
c.6168T>G (p.Arg2056=)
c.6138T>G (p.Arg2046=)
c.6090T>G (p.Arg2030=)
c.6051T>G (p.Arg2017=)
c.5976T>G (p.Arg1992=)
n.6597T>G
c.6165T>G (p.Arg2055=)
c.6135T>G (p.Arg2045=)
c.6087T>G (p.Arg2029=)
c.6054T>G (p.Arg2018=)
c.6024T>G (p.Arg2008=)
c.6021T>G (p.Arg2007=)
c.5973T>G (p.Arg1991=)
c.5937T>G (p.Arg1979=)
c.5934T>G (p.Arg1978=)
c.5889T>G (p.Arg1963=)
n.6554T>G
Xg.77574321A>GCA517374802ATRXc.6255T>C (p.Arg2085=)
n.90T>C
c.1353T>C (p.Arg451=)
c.6141T>C (p.Arg2047=)
c.*5883T>C (n.*5883T>C)
c.739T>C
n.3325T>C
c.6252T>C (p.Arg2084=)
c.6168T>C (p.Arg2056=)
c.6138T>C (p.Arg2046=)
c.6090T>C (p.Arg2030=)
c.6051T>C (p.Arg2017=)
c.5976T>C (p.Arg1992=)
n.6597T>C
c.6165T>C (p.Arg2055=)
c.6135T>C (p.Arg2045=)
c.6087T>C (p.Arg2029=)
c.6054T>C (p.Arg2018=)
c.6024T>C (p.Arg2008=)
c.6021T>C (p.Arg2007=)
c.5973T>C (p.Arg1991=)
c.5937T>C (p.Arg1979=)
c.5934T>C (p.Arg1978=)
c.5889T>C (p.Arg1963=)
n.6554T>C
Xg.77574321A>TCA517374803ATRXc.6255T>A (p.Arg2085=)
n.90T>A
c.1353T>A (p.Arg451=)
c.6141T>A (p.Arg2047=)
c.*5883T>A (n.*5883T>A)
c.739T>A
n.3325T>A
c.6252T>A (p.Arg2084=)
c.6168T>A (p.Arg2056=)
c.6138T>A (p.Arg2046=)
c.6090T>A (p.Arg2030=)
c.6051T>A (p.Arg2017=)
c.5976T>A (p.Arg1992=)
n.6597T>A
c.6165T>A (p.Arg2055=)
c.6135T>A (p.Arg2045=)
c.6087T>A (p.Arg2029=)
c.6054T>A (p.Arg2018=)
c.6024T>A (p.Arg2008=)
c.6021T>A (p.Arg2007=)
c.5973T>A (p.Arg1991=)
c.5937T>A (p.Arg1979=)
c.5934T>A (p.Arg1978=)
c.5889T>A (p.Arg1963=)
n.6554T>A
Xg.77574322C>ACA413701166ATRXc.6254G>T (p.Arg2085Leu)
n.89G>T
c.1352G>T (p.Arg451Leu)
c.6140G>T (p.Arg2047Leu)
c.*5882G>T (n.*5882G>T)
c.738G>T
n.3324G>T
c.6251G>T (p.Arg2084Leu)
c.6167G>T (p.Arg2056Leu)
c.6137G>T (p.Arg2046Leu)
c.6089G>T (p.Arg2030Leu)
c.6050G>T (p.Arg2017Leu)
c.5975G>T (p.Arg1992Leu)
n.6596G>T
c.6164G>T (p.Arg2055Leu)
c.6134G>T (p.Arg2045Leu)
c.6086G>T (p.Arg2029Leu)
c.6053G>T (p.Arg2018Leu)
c.6023G>T (p.Arg2008Leu)
c.6020G>T (p.Arg2007Leu)
c.5972G>T (p.Arg1991Leu)
c.5936G>T (p.Arg1979Leu)
c.5933G>T (p.Arg1978Leu)
c.5888G>T (p.Arg1963Leu)
n.6553G>T
 ClinVar dbSNP
Xg.77574322C=CA2438951399ATRXc.6254G= (p.Arg2085=)
n.89G=
c.1352G= (p.Arg451=)
c.6140G= (p.Arg2047=)
c.*5882G= (n.*5882G=)
c.738G=
n.3324G=
c.6251G= (p.Arg2084=)
c.6167G= (p.Arg2056=)
c.6137G= (p.Arg2046=)
c.6089G= (p.Arg2030=)
c.6050G= (p.Arg2017=)
c.5975G= (p.Arg1992=)
n.6596G=
c.6164G= (p.Arg2055=)
c.6134G= (p.Arg2045=)
c.6086G= (p.Arg2029=)
c.6053G= (p.Arg2018=)
c.6023G= (p.Arg2008=)
c.6020G= (p.Arg2007=)
c.5972G= (p.Arg1991=)
c.5936G= (p.Arg1979=)
c.5933G= (p.Arg1978=)
c.5888G= (p.Arg1963=)
n.6553G=
Xg.77574322C>GCA413701167ATRXc.6254G>C (p.Arg2085Pro)
n.89G>C
c.1352G>C (p.Arg451Pro)
c.6140G>C (p.Arg2047Pro)
c.*5882G>C (n.*5882G>C)
c.738G>C
n.3324G>C
c.6251G>C (p.Arg2084Pro)
c.6167G>C (p.Arg2056Pro)
c.6137G>C (p.Arg2046Pro)
c.6089G>C (p.Arg2030Pro)
c.6050G>C (p.Arg2017Pro)
c.5975G>C (p.Arg1992Pro)
n.6596G>C
c.6164G>C (p.Arg2055Pro)
c.6134G>C (p.Arg2045Pro)
c.6086G>C (p.Arg2029Pro)
c.6053G>C (p.Arg2018Pro)
c.6023G>C (p.Arg2008Pro)
c.6020G>C (p.Arg2007Pro)
c.5972G>C (p.Arg1991Pro)
c.5936G>C (p.Arg1979Pro)
c.5933G>C (p.Arg1978Pro)
c.5888G>C (p.Arg1963Pro)
n.6553G>C
Xg.77574322C>TCA16043310ATRXc.6254G>A (p.Arg2085His)
n.89G>A
c.1352G>A (p.Arg451His)
c.6140G>A (p.Arg2047His)
c.*5882G>A (n.*5882G>A)
c.738G>A
n.3324G>A
c.6251G>A (p.Arg2084His)
c.6167G>A (p.Arg2056His)
c.6137G>A (p.Arg2046His)
c.6089G>A (p.Arg2030His)
c.6050G>A (p.Arg2017His)
c.5975G>A (p.Arg1992His)
n.6596G>A
c.6164G>A (p.Arg2055His)
c.6134G>A (p.Arg2045His)
c.6086G>A (p.Arg2029His)
c.6053G>A (p.Arg2018His)
c.6023G>A (p.Arg2008His)
c.6020G>A (p.Arg2007His)
c.5972G>A (p.Arg1991His)
c.5936G>A (p.Arg1979His)
c.5933G>A (p.Arg1978His)
c.5888G>A (p.Arg1963His)
n.6553G>A
 ClinVar dbSNP gnomAD v4
Xg.77574323G>ACA413701171ATRXc.6253C>T (p.Arg2085Cys)
n.88C>T
c.1351C>T (p.Arg451Cys)
c.6139C>T (p.Arg2047Cys)
c.*5881C>T (n.*5881C>T)
c.737C>T
n.3323C>T
c.6250C>T (p.Arg2084Cys)
c.6166C>T (p.Arg2056Cys)
c.6136C>T (p.Arg2046Cys)
c.6088C>T (p.Arg2030Cys)
c.6049C>T (p.Arg2017Cys)
c.5974C>T (p.Arg1992Cys)
n.6595C>T
c.6163C>T (p.Arg2055Cys)
c.6133C>T (p.Arg2045Cys)
c.6085C>T (p.Arg2029Cys)
c.6052C>T (p.Arg2018Cys)
c.6022C>T (p.Arg2008Cys)
c.6019C>T (p.Arg2007Cys)
c.5971C>T (p.Arg1991Cys)
c.5935C>T (p.Arg1979Cys)
c.5932C>T (p.Arg1978Cys)
c.5887C>T (p.Arg1963Cys)
n.6552C>T
 ClinVar dbSNP COSMIC
Xg.77574323G>CCA413701173ATRXc.6253C>G (p.Arg2085Gly)
n.88C>G
c.1351C>G (p.Arg451Gly)
c.6139C>G (p.Arg2047Gly)
c.*5881C>G (n.*5881C>G)
c.737C>G
n.3323C>G
c.6250C>G (p.Arg2084Gly)
c.6166C>G (p.Arg2056Gly)
c.6136C>G (p.Arg2046Gly)
c.6088C>G (p.Arg2030Gly)
c.6049C>G (p.Arg2017Gly)
c.5974C>G (p.Arg1992Gly)
n.6595C>G
c.6163C>G (p.Arg2055Gly)
c.6133C>G (p.Arg2045Gly)
c.6085C>G (p.Arg2029Gly)
c.6052C>G (p.Arg2018Gly)
c.6022C>G (p.Arg2008Gly)
c.6019C>G (p.Arg2007Gly)
c.5971C>G (p.Arg1991Gly)
c.5935C>G (p.Arg1979Gly)
c.5932C>G (p.Arg1978Gly)
c.5887C>G (p.Arg1963Gly)
n.6552C>G
Xg.77574323G>TCA413701175ATRXc.6253C>A (p.Arg2085Ser)
n.88C>A
c.1351C>A (p.Arg451Ser)
c.6139C>A (p.Arg2047Ser)
c.*5881C>A (n.*5881C>A)
c.737C>A
n.3323C>A
c.6250C>A (p.Arg2084Ser)
c.6166C>A (p.Arg2056Ser)
c.6136C>A (p.Arg2046Ser)
c.6088C>A (p.Arg2030Ser)
c.6049C>A (p.Arg2017Ser)
c.5974C>A (p.Arg1992Ser)
n.6595C>A
c.6163C>A (p.Arg2055Ser)
c.6133C>A (p.Arg2045Ser)
c.6085C>A (p.Arg2029Ser)
c.6052C>A (p.Arg2018Ser)
c.6022C>A (p.Arg2008Ser)
c.6019C>A (p.Arg2007Ser)
c.5971C>A (p.Arg1991Ser)
c.5935C>A (p.Arg1979Ser)
c.5932C>A (p.Arg1978Ser)
c.5887C>A (p.Arg1963Ser)
n.6552C>A
Xg.77574324G>ACA517374805ATRXc.6252C>T (p.Tyr2084=)
n.87C>T
c.1350C>T (p.Tyr450=)
c.6138C>T (p.Tyr2046=)
c.*5880C>T (n.*5880C>T)
c.736C>T
n.3322C>T
c.6249C>T (p.Tyr2083=)
c.6165C>T (p.Tyr2055=)
c.6135C>T (p.Tyr2045=)
c.6087C>T (p.Tyr2029=)
c.6048C>T (p.Tyr2016=)
c.5973C>T (p.Tyr1991=)
n.6594C>T
c.6162C>T (p.Tyr2054=)
c.6132C>T (p.Tyr2044=)
c.6084C>T (p.Tyr2028=)
c.6051C>T (p.Tyr2017=)
c.6021C>T (p.Tyr2007=)
c.6018C>T (p.Tyr2006=)
c.5970C>T (p.Tyr1990=)
c.5934C>T (p.Tyr1978=)
c.5931C>T (p.Tyr1977=)
c.5886C>T (p.Tyr1962=)
n.6551C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.77574324G>CCA413701177ATRXc.6252C>G (p.Tyr2084Ter)
n.87C>G
c.1350C>G (p.Tyr450Ter)
c.6138C>G (p.Tyr2046Ter)
c.*5880C>G (n.*5880C>G)
c.736C>G
n.3322C>G
c.6249C>G (p.Tyr2083Ter)
c.6165C>G (p.Tyr2055Ter)
c.6135C>G (p.Tyr2045Ter)
c.6087C>G (p.Tyr2029Ter)
c.6048C>G (p.Tyr2016Ter)
c.5973C>G (p.Tyr1991Ter)
n.6594C>G
c.6162C>G (p.Tyr2054Ter)
c.6132C>G (p.Tyr2044Ter)
c.6084C>G (p.Tyr2028Ter)
c.6051C>G (p.Tyr2017Ter)
c.6021C>G (p.Tyr2007Ter)
c.6018C>G (p.Tyr2006Ter)
c.5970C>G (p.Tyr1990Ter)
c.5934C>G (p.Tyr1978Ter)
c.5931C>G (p.Tyr1977Ter)
c.5886C>G (p.Tyr1962Ter)
n.6551C>G
Xg.77574324G=CA2438951400ATRXc.6252C= (p.Tyr2084=)
n.87C=
c.1350C= (p.Tyr450=)
c.6138C= (p.Tyr2046=)
c.*5880C= (n.*5880C=)
c.736C=
n.3322C=
c.6249C= (p.Tyr2083=)
c.6165C= (p.Tyr2055=)
c.6135C= (p.Tyr2045=)
c.6087C= (p.Tyr2029=)
c.6048C= (p.Tyr2016=)
c.5973C= (p.Tyr1991=)
n.6594C=
c.6162C= (p.Tyr2054=)
c.6132C= (p.Tyr2044=)
c.6084C= (p.Tyr2028=)
c.6051C= (p.Tyr2017=)
c.6021C= (p.Tyr2007=)
c.6018C= (p.Tyr2006=)
c.5970C= (p.Tyr1990=)
c.5934C= (p.Tyr1978=)
c.5931C= (p.Tyr1977=)
c.5886C= (p.Tyr1962=)
n.6551C=
Xg.77574324G>TCA413701179ATRXc.6252C>A (p.Tyr2084Ter)
n.87C>A
c.1350C>A (p.Tyr450Ter)
c.6138C>A (p.Tyr2046Ter)
c.*5880C>A (n.*5880C>A)
c.736C>A
n.3322C>A
c.6249C>A (p.Tyr2083Ter)
c.6165C>A (p.Tyr2055Ter)
c.6135C>A (p.Tyr2045Ter)
c.6087C>A (p.Tyr2029Ter)
c.6048C>A (p.Tyr2016Ter)
c.5973C>A (p.Tyr1991Ter)
n.6594C>A
c.6162C>A (p.Tyr2054Ter)
c.6132C>A (p.Tyr2044Ter)
c.6084C>A (p.Tyr2028Ter)
c.6051C>A (p.Tyr2017Ter)
c.6021C>A (p.Tyr2007Ter)
c.6018C>A (p.Tyr2006Ter)
c.5970C>A (p.Tyr1990Ter)
c.5934C>A (p.Tyr1978Ter)
c.5931C>A (p.Tyr1977Ter)
c.5886C>A (p.Tyr1962Ter)
n.6551C>A
Xg.77574325delCA2579648815ATRXc.6251del (p.Tyr2084SerfsTer3)
n.86del
c.1349del (p.Tyr450SerfsTer3)
c.6137del (p.Tyr2046SerfsTer3)
c.*5879del (n.*5879del)
c.735del
n.3321del
c.6248del (p.Tyr2083SerfsTer3)
c.6164del (p.Tyr2055SerfsTer3)
c.6134del (p.Tyr2045SerfsTer3)
c.6086del (p.Tyr2029SerfsTer3)
c.6047del (p.Tyr2016SerfsTer3)
c.5972del (p.Tyr1991SerfsTer3)
n.6593del
c.6161del (p.Tyr2054SerfsTer3)
c.6131del (p.Tyr2044SerfsTer3)
c.6083del (p.Tyr2028SerfsTer3)
c.6050del (p.Tyr2017SerfsTer3)
c.6020del (p.Tyr2007SerfsTer3)
c.6017del (p.Tyr2006SerfsTer3)
c.5969del (p.Tyr1990SerfsTer3)
c.5933del (p.Tyr1978SerfsTer3)
c.5930del (p.Tyr1977SerfsTer3)
c.5885del (p.Tyr1962SerfsTer3)
n.6550del
Xg.77574325T>ACA413701187ATRXc.6251A>T (p.Tyr2084Phe)
n.86A>T
c.1349A>T (p.Tyr450Phe)
c.6137A>T (p.Tyr2046Phe)
c.*5879A>T (n.*5879A>T)
c.735A>T
n.3321A>T
c.6248A>T (p.Tyr2083Phe)
c.6164A>T (p.Tyr2055Phe)
c.6134A>T (p.Tyr2045Phe)
c.6086A>T (p.Tyr2029Phe)
c.6047A>T (p.Tyr2016Phe)
c.5972A>T (p.Tyr1991Phe)
n.6593A>T
c.6161A>T (p.Tyr2054Phe)
c.6131A>T (p.Tyr2044Phe)
c.6083A>T (p.Tyr2028Phe)
c.6050A>T (p.Tyr2017Phe)
c.6020A>T (p.Tyr2007Phe)
c.6017A>T (p.Tyr2006Phe)
c.5969A>T (p.Tyr1990Phe)
c.5933A>T (p.Tyr1978Phe)
c.5930A>T (p.Tyr1977Phe)
c.5885A>T (p.Tyr1962Phe)
n.6550A>T
Xg.77574325T>CCA413701184ATRXc.6251A>G (p.Tyr2084Cys)
n.86A>G
c.1349A>G (p.Tyr450Cys)
c.6137A>G (p.Tyr2046Cys)
c.*5879A>G (n.*5879A>G)
c.735A>G
n.3321A>G
c.6248A>G (p.Tyr2083Cys)
c.6164A>G (p.Tyr2055Cys)
c.6134A>G (p.Tyr2045Cys)
c.6086A>G (p.Tyr2029Cys)
c.6047A>G (p.Tyr2016Cys)
c.5972A>G (p.Tyr1991Cys)
n.6593A>G
c.6161A>G (p.Tyr2054Cys)
c.6131A>G (p.Tyr2044Cys)
c.6083A>G (p.Tyr2028Cys)
c.6050A>G (p.Tyr2017Cys)
c.6020A>G (p.Tyr2007Cys)
c.6017A>G (p.Tyr2006Cys)
c.5969A>G (p.Tyr1990Cys)
c.5933A>G (p.Tyr1978Cys)
c.5930A>G (p.Tyr1977Cys)
c.5885A>G (p.Tyr1962Cys)
n.6550A>G
Xg.77574325T>GCA413701182ATRXc.6251A>C (p.Tyr2084Ser)
n.86A>C
c.1349A>C (p.Tyr450Ser)
c.6137A>C (p.Tyr2046Ser)
c.*5879A>C (n.*5879A>C)
c.735A>C
n.3321A>C
c.6248A>C (p.Tyr2083Ser)
c.6164A>C (p.Tyr2055Ser)
c.6134A>C (p.Tyr2045Ser)
c.6086A>C (p.Tyr2029Ser)
c.6047A>C (p.Tyr2016Ser)
c.5972A>C (p.Tyr1991Ser)
n.6593A>C
c.6161A>C (p.Tyr2054Ser)
c.6131A>C (p.Tyr2044Ser)
c.6083A>C (p.Tyr2028Ser)
c.6050A>C (p.Tyr2017Ser)
c.6020A>C (p.Tyr2007Ser)
c.6017A>C (p.Tyr2006Ser)
c.5969A>C (p.Tyr1990Ser)
c.5933A>C (p.Tyr1978Ser)
c.5930A>C (p.Tyr1977Ser)
c.5885A>C (p.Tyr1962Ser)
n.6550A>C
Xg.77574326A=CA2438951401ATRXc.6250T= (p.Tyr2084=)
n.85T=
c.1348T= (p.Tyr450=)
c.6136T= (p.Tyr2046=)
c.*5878T= (n.*5878T=)
c.734T=
n.3320T=
c.6247T= (p.Tyr2083=)
c.6163T= (p.Tyr2055=)
c.6133T= (p.Tyr2045=)
c.6085T= (p.Tyr2029=)
c.6046T= (p.Tyr2016=)
c.5971T= (p.Tyr1991=)
n.6592T=
c.6160T= (p.Tyr2054=)
c.6130T= (p.Tyr2044=)
c.6082T= (p.Tyr2028=)
c.6049T= (p.Tyr2017=)
c.6019T= (p.Tyr2007=)
c.6016T= (p.Tyr2006=)
c.5968T= (p.Tyr1990=)
c.5932T= (p.Tyr1978=)
c.5929T= (p.Tyr1977=)
c.5884T= (p.Tyr1962=)
n.6549T=
Xg.77574326A>CCA413701189ATRXc.6250T>G (p.Tyr2084Asp)
n.85T>G
c.1348T>G (p.Tyr450Asp)
c.6136T>G (p.Tyr2046Asp)
c.*5878T>G (n.*5878T>G)
c.734T>G
n.3320T>G
c.6247T>G (p.Tyr2083Asp)
c.6163T>G (p.Tyr2055Asp)
c.6133T>G (p.Tyr2045Asp)
c.6085T>G (p.Tyr2029Asp)
c.6046T>G (p.Tyr2016Asp)
c.5971T>G (p.Tyr1991Asp)
n.6592T>G
c.6160T>G (p.Tyr2054Asp)
c.6130T>G (p.Tyr2044Asp)
c.6082T>G (p.Tyr2028Asp)
c.6049T>G (p.Tyr2017Asp)
c.6019T>G (p.Tyr2007Asp)
c.6016T>G (p.Tyr2006Asp)
c.5968T>G (p.Tyr1990Asp)
c.5932T>G (p.Tyr1978Asp)
c.5929T>G (p.Tyr1977Asp)
c.5884T>G (p.Tyr1962Asp)
n.6549T>G
Xg.77574326A>GCA256028ATRXc.6250T>C (p.Tyr2084His)
n.85T>C
c.1348T>C (p.Tyr450His)
c.6136T>C (p.Tyr2046His)
c.*5878T>C (n.*5878T>C)
c.734T>C
n.3320T>C
c.6247T>C (p.Tyr2083His)
c.6163T>C (p.Tyr2055His)
c.6133T>C (p.Tyr2045His)
c.6085T>C (p.Tyr2029His)
c.6046T>C (p.Tyr2016His)
c.5971T>C (p.Tyr1991His)
n.6592T>C
c.6160T>C (p.Tyr2054His)
c.6130T>C (p.Tyr2044His)
c.6082T>C (p.Tyr2028His)
c.6049T>C (p.Tyr2017His)
c.6019T>C (p.Tyr2007His)
c.6016T>C (p.Tyr2006His)
c.5968T>C (p.Tyr1990His)
c.5932T>C (p.Tyr1978His)
c.5929T>C (p.Tyr1977His)
c.5884T>C (p.Tyr1962His)
n.6549T>C
 ClinVar dbSNP
Xg.77574326A>TCA413701193ATRXc.6250T>A (p.Tyr2084Asn)
n.85T>A
c.1348T>A (p.Tyr450Asn)
c.6136T>A (p.Tyr2046Asn)
c.*5878T>A (n.*5878T>A)
c.734T>A
n.3320T>A
c.6247T>A (p.Tyr2083Asn)
c.6163T>A (p.Tyr2055Asn)
c.6133T>A (p.Tyr2045Asn)
c.6085T>A (p.Tyr2029Asn)
c.6046T>A (p.Tyr2016Asn)
c.5971T>A (p.Tyr1991Asn)
n.6592T>A
c.6160T>A (p.Tyr2054Asn)
c.6130T>A (p.Tyr2044Asn)
c.6082T>A (p.Tyr2028Asn)
c.6049T>A (p.Tyr2017Asn)
c.6019T>A (p.Tyr2007Asn)
c.6016T>A (p.Tyr2006Asn)
c.5968T>A (p.Tyr1990Asn)
c.5932T>A (p.Tyr1978Asn)
c.5929T>A (p.Tyr1977Asn)
c.5884T>A (p.Tyr1962Asn)
n.6549T>A
Xg.77574327A=CA2438951402ATRXc.6249T= (p.Tyr2083=)
n.84T=
c.1347T= (p.Tyr449=)
c.6135T= (p.Tyr2045=)
c.*5877T= (n.*5877T=)
c.733T=
n.3319T=
c.6246T= (p.Tyr2082=)
c.6162T= (p.Tyr2054=)
c.6132T= (p.Tyr2044=)
c.6084T= (p.Tyr2028=)
c.6045T= (p.Tyr2015=)
c.5970T= (p.Tyr1990=)
n.6591T=
c.6159T= (p.Tyr2053=)
c.6129T= (p.Tyr2043=)
c.6081T= (p.Tyr2027=)
c.6048T= (p.Tyr2016=)
c.6018T= (p.Tyr2006=)
c.6015T= (p.Tyr2005=)
c.5967T= (p.Tyr1989=)
c.5931T= (p.Tyr1977=)
c.5928T= (p.Tyr1976=)
c.5883T= (p.Tyr1961=)
n.6548T=
Xg.77574327A>CCA413701196ATRXc.6249T>G (p.Tyr2083Ter)
n.84T>G
c.1347T>G (p.Tyr449Ter)
c.6135T>G (p.Tyr2045Ter)
c.*5877T>G (n.*5877T>G)
c.733T>G
n.3319T>G
c.6246T>G (p.Tyr2082Ter)
c.6162T>G (p.Tyr2054Ter)
c.6132T>G (p.Tyr2044Ter)
c.6084T>G (p.Tyr2028Ter)
c.6045T>G (p.Tyr2015Ter)
c.5970T>G (p.Tyr1990Ter)
n.6591T>G
c.6159T>G (p.Tyr2053Ter)
c.6129T>G (p.Tyr2043Ter)
c.6081T>G (p.Tyr2027Ter)
c.6048T>G (p.Tyr2016Ter)
c.6018T>G (p.Tyr2006Ter)
c.6015T>G (p.Tyr2005Ter)
c.5967T>G (p.Tyr1989Ter)
c.5931T>G (p.Tyr1977Ter)
c.5928T>G (p.Tyr1976Ter)
c.5883T>G (p.Tyr1961Ter)
n.6548T>G
Xg.77574327A>GCA517374810ATRXc.6249T>C (p.Tyr2083=)
n.84T>C
c.1347T>C (p.Tyr449=)
c.6135T>C (p.Tyr2045=)
c.*5877T>C (n.*5877T>C)
c.733T>C
n.3319T>C
c.6246T>C (p.Tyr2082=)
c.6162T>C (p.Tyr2054=)
c.6132T>C (p.Tyr2044=)
c.6084T>C (p.Tyr2028=)
c.6045T>C (p.Tyr2015=)
c.5970T>C (p.Tyr1990=)
n.6591T>C
c.6159T>C (p.Tyr2053=)
c.6129T>C (p.Tyr2043=)
c.6081T>C (p.Tyr2027=)
c.6048T>C (p.Tyr2016=)
c.6018T>C (p.Tyr2006=)
c.6015T>C (p.Tyr2005=)
c.5967T>C (p.Tyr1989=)
c.5931T>C (p.Tyr1977=)
c.5928T>C (p.Tyr1976=)
c.5883T>C (p.Tyr1961=)
n.6548T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.77574327A>TCA413701198ATRXc.6249T>A (p.Tyr2083Ter)
n.84T>A
c.1347T>A (p.Tyr449Ter)
c.6135T>A (p.Tyr2045Ter)
c.*5877T>A (n.*5877T>A)
c.733T>A
n.3319T>A
c.6246T>A (p.Tyr2082Ter)
c.6162T>A (p.Tyr2054Ter)
c.6132T>A (p.Tyr2044Ter)
c.6084T>A (p.Tyr2028Ter)
c.6045T>A (p.Tyr2015Ter)
c.5970T>A (p.Tyr1990Ter)
n.6591T>A
c.6159T>A (p.Tyr2053Ter)
c.6129T>A (p.Tyr2043Ter)
c.6081T>A (p.Tyr2027Ter)
c.6048T>A (p.Tyr2016Ter)
c.6018T>A (p.Tyr2006Ter)
c.6015T>A (p.Tyr2005Ter)
c.5967T>A (p.Tyr1989Ter)
c.5931T>A (p.Tyr1977Ter)
c.5928T>A (p.Tyr1976Ter)
c.5883T>A (p.Tyr1961Ter)
n.6548T>A
Xg.77574328T>ACA413701200ATRXc.6248A>T (p.Tyr2083Phe)
n.83A>T
c.1346A>T (p.Tyr449Phe)
c.6134A>T (p.Tyr2045Phe)
c.*5876A>T (n.*5876A>T)
c.732A>T
n.3318A>T
c.6245A>T (p.Tyr2082Phe)
c.6161A>T (p.Tyr2054Phe)
c.6131A>T (p.Tyr2044Phe)
c.6083A>T (p.Tyr2028Phe)
c.6044A>T (p.Tyr2015Phe)
c.5969A>T (p.Tyr1990Phe)
n.6590A>T
c.6158A>T (p.Tyr2053Phe)
c.6128A>T (p.Tyr2043Phe)
c.6080A>T (p.Tyr2027Phe)
c.6047A>T (p.Tyr2016Phe)
c.6017A>T (p.Tyr2006Phe)
c.6014A>T (p.Tyr2005Phe)
c.5966A>T (p.Tyr1989Phe)
c.5930A>T (p.Tyr1977Phe)
c.5927A>T (p.Tyr1976Phe)
c.5882A>T (p.Tyr1961Phe)
n.6547A>T
Xg.77574328T>CCA413701209ATRXc.6248A>G (p.Tyr2083Cys)
n.83A>G
c.1346A>G (p.Tyr449Cys)
c.6134A>G (p.Tyr2045Cys)
c.*5876A>G (n.*5876A>G)
c.732A>G
n.3318A>G
c.6245A>G (p.Tyr2082Cys)
c.6161A>G (p.Tyr2054Cys)
c.6131A>G (p.Tyr2044Cys)
c.6083A>G (p.Tyr2028Cys)
c.6044A>G (p.Tyr2015Cys)
c.5969A>G (p.Tyr1990Cys)
n.6590A>G
c.6158A>G (p.Tyr2053Cys)
c.6128A>G (p.Tyr2043Cys)
c.6080A>G (p.Tyr2027Cys)
c.6047A>G (p.Tyr2016Cys)
c.6017A>G (p.Tyr2006Cys)
c.6014A>G (p.Tyr2005Cys)
c.5966A>G (p.Tyr1989Cys)
c.5930A>G (p.Tyr1977Cys)
c.5927A>G (p.Tyr1976Cys)
c.5882A>G (p.Tyr1961Cys)
n.6547A>G
Xg.77574328T>GCA413701211ATRXc.6248A>C (p.Tyr2083Ser)
n.83A>C
c.1346A>C (p.Tyr449Ser)
c.6134A>C (p.Tyr2045Ser)
c.*5876A>C (n.*5876A>C)
c.732A>C
n.3318A>C
c.6245A>C (p.Tyr2082Ser)
c.6161A>C (p.Tyr2054Ser)
c.6131A>C (p.Tyr2044Ser)
c.6083A>C (p.Tyr2028Ser)
c.6044A>C (p.Tyr2015Ser)
c.5969A>C (p.Tyr1990Ser)
n.6590A>C
c.6158A>C (p.Tyr2053Ser)
c.6128A>C (p.Tyr2043Ser)
c.6080A>C (p.Tyr2027Ser)
c.6047A>C (p.Tyr2016Ser)
c.6017A>C (p.Tyr2006Ser)
c.6014A>C (p.Tyr2005Ser)
c.5966A>C (p.Tyr1989Ser)
c.5930A>C (p.Tyr1977Ser)
c.5927A>C (p.Tyr1976Ser)
c.5882A>C (p.Tyr1961Ser)
n.6547A>C
Xg.77574329A>CCA413701213ATRXc.6247T>G (p.Tyr2083Asp)
n.82T>G
c.1345T>G (p.Tyr449Asp)
c.6133T>G (p.Tyr2045Asp)
c.*5875T>G (n.*5875T>G)
c.731T>G
n.3317T>G
c.6244T>G (p.Tyr2082Asp)
c.6160T>G (p.Tyr2054Asp)
c.6130T>G (p.Tyr2044Asp)
c.6082T>G (p.Tyr2028Asp)
c.6043T>G (p.Tyr2015Asp)
c.5968T>G (p.Tyr1990Asp)
n.6589T>G
c.6157T>G (p.Tyr2053Asp)
c.6127T>G (p.Tyr2043Asp)
c.6079T>G (p.Tyr2027Asp)
c.6046T>G (p.Tyr2016Asp)
c.6016T>G (p.Tyr2006Asp)
c.6013T>G (p.Tyr2005Asp)
c.5965T>G (p.Tyr1989Asp)
c.5929T>G (p.Tyr1977Asp)
c.5926T>G (p.Tyr1976Asp)
c.5881T>G (p.Tyr1961Asp)
n.6546T>G
Xg.77574329A>GCA413701215ATRXc.6247T>C (p.Tyr2083His)
n.82T>C
c.1345T>C (p.Tyr449His)
c.6133T>C (p.Tyr2045His)
c.*5875T>C (n.*5875T>C)
c.731T>C
n.3317T>C
c.6244T>C (p.Tyr2082His)
c.6160T>C (p.Tyr2054His)
c.6130T>C (p.Tyr2044His)
c.6082T>C (p.Tyr2028His)
c.6043T>C (p.Tyr2015His)
c.5968T>C (p.Tyr1990His)
n.6589T>C
c.6157T>C (p.Tyr2053His)
c.6127T>C (p.Tyr2043His)
c.6079T>C (p.Tyr2027His)
c.6046T>C (p.Tyr2016His)
c.6016T>C (p.Tyr2006His)
c.6013T>C (p.Tyr2005His)
c.5965T>C (p.Tyr1989His)
c.5929T>C (p.Tyr1977His)
c.5926T>C (p.Tyr1976His)
c.5881T>C (p.Tyr1961His)
n.6546T>C
Xg.77574329A>TCA413701217ATRXc.6247T>A (p.Tyr2083Asn)
n.82T>A
c.1345T>A (p.Tyr449Asn)
c.6133T>A (p.Tyr2045Asn)
c.*5875T>A (n.*5875T>A)
c.731T>A
n.3317T>A
c.6244T>A (p.Tyr2082Asn)
c.6160T>A (p.Tyr2054Asn)
c.6130T>A (p.Tyr2044Asn)
c.6082T>A (p.Tyr2028Asn)
c.6043T>A (p.Tyr2015Asn)
c.5968T>A (p.Tyr1990Asn)
n.6589T>A
c.6157T>A (p.Tyr2053Asn)
c.6127T>A (p.Tyr2043Asn)
c.6079T>A (p.Tyr2027Asn)
c.6046T>A (p.Tyr2016Asn)
c.6016T>A (p.Tyr2006Asn)
c.6013T>A (p.Tyr2005Asn)
c.5965T>A (p.Tyr1989Asn)
c.5929T>A (p.Tyr1977Asn)
c.5926T>A (p.Tyr1976Asn)
c.5881T>A (p.Tyr1961Asn)
n.6546T>A
Xg.77574330G>ACA517374812ATRXc.6246C>T (p.Asp2082=)
n.81C>T
c.1344C>T (p.Asp448=)
c.6132C>T (p.Asp2044=)
c.*5874C>T (n.*5874C>T)
c.730C>T
n.3316C>T
c.6243C>T (p.Asp2081=)
c.6159C>T (p.Asp2053=)
c.6129C>T (p.Asp2043=)
c.6081C>T (p.Asp2027=)
c.6042C>T (p.Asp2014=)
c.5967C>T (p.Asp1989=)
n.6588C>T
c.6156C>T (p.Asp2052=)
c.6126C>T (p.Asp2042=)
c.6078C>T (p.Asp2026=)
c.6045C>T (p.Asp2015=)
c.6015C>T (p.Asp2005=)
c.6012C>T (p.Asp2004=)
c.5964C>T (p.Asp1988=)
c.5928C>T (p.Asp1976=)
c.5925C>T (p.Asp1975=)
c.5880C>T (p.Asp1960=)
n.6545C>T
Xg.77574330G>CCA413701219ATRXc.6246C>G (p.Asp2082Glu)
n.81C>G
c.1344C>G (p.Asp448Glu)
c.6132C>G (p.Asp2044Glu)
c.*5874C>G (n.*5874C>G)
c.730C>G
n.3316C>G
c.6243C>G (p.Asp2081Glu)
c.6159C>G (p.Asp2053Glu)
c.6129C>G (p.Asp2043Glu)
c.6081C>G (p.Asp2027Glu)
c.6042C>G (p.Asp2014Glu)
c.5967C>G (p.Asp1989Glu)
n.6588C>G
c.6156C>G (p.Asp2052Glu)
c.6126C>G (p.Asp2042Glu)
c.6078C>G (p.Asp2026Glu)
c.6045C>G (p.Asp2015Glu)
c.6015C>G (p.Asp2005Glu)
c.6012C>G (p.Asp2004Glu)
c.5964C>G (p.Asp1988Glu)
c.5928C>G (p.Asp1976Glu)
c.5925C>G (p.Asp1975Glu)
c.5880C>G (p.Asp1960Glu)
n.6545C>G
Xg.77574330G>TCA413701220ATRXc.6246C>A (p.Asp2082Glu)
n.81C>A
c.1344C>A (p.Asp448Glu)
c.6132C>A (p.Asp2044Glu)
c.*5874C>A (n.*5874C>A)
c.730C>A
n.3316C>A
c.6243C>A (p.Asp2081Glu)
c.6159C>A (p.Asp2053Glu)
c.6129C>A (p.Asp2043Glu)
c.6081C>A (p.Asp2027Glu)
c.6042C>A (p.Asp2014Glu)
c.5967C>A (p.Asp1989Glu)
n.6588C>A
c.6156C>A (p.Asp2052Glu)
c.6126C>A (p.Asp2042Glu)
c.6078C>A (p.Asp2026Glu)
c.6045C>A (p.Asp2015Glu)
c.6015C>A (p.Asp2005Glu)
c.6012C>A (p.Asp2004Glu)
c.5964C>A (p.Asp1988Glu)
c.5928C>A (p.Asp1976Glu)
c.5925C>A (p.Asp1975Glu)
c.5880C>A (p.Asp1960Glu)
n.6545C>A
Xg.77574331T>ACA413701228ATRXc.6245A>T (p.Asp2082Val)
n.80A>T
c.1343A>T (p.Asp448Val)
c.6131A>T (p.Asp2044Val)
c.*5873A>T (n.*5873A>T)
c.729A>T
n.3315A>T
c.6242A>T (p.Asp2081Val)
c.6158A>T (p.Asp2053Val)
c.6128A>T (p.Asp2043Val)
c.6080A>T (p.Asp2027Val)
c.6041A>T (p.Asp2014Val)
c.5966A>T (p.Asp1989Val)
n.6587A>T
c.6155A>T (p.Asp2052Val)
c.6125A>T (p.Asp2042Val)
c.6077A>T (p.Asp2026Val)
c.6044A>T (p.Asp2015Val)
c.6014A>T (p.Asp2005Val)
c.6011A>T (p.Asp2004Val)
c.5963A>T (p.Asp1988Val)
c.5927A>T (p.Asp1976Val)
c.5924A>T (p.Asp1975Val)
c.5879A>T (p.Asp1960Val)
n.6544A>T
Xg.77574331T>CCA413701229ATRXc.6245A>G (p.Asp2082Gly)
n.80A>G
c.1343A>G (p.Asp448Gly)
c.6131A>G (p.Asp2044Gly)
c.*5873A>G (n.*5873A>G)
c.729A>G
n.3315A>G
c.6242A>G (p.Asp2081Gly)
c.6158A>G (p.Asp2053Gly)
c.6128A>G (p.Asp2043Gly)
c.6080A>G (p.Asp2027Gly)
c.6041A>G (p.Asp2014Gly)
c.5966A>G (p.Asp1989Gly)
n.6587A>G
c.6155A>G (p.Asp2052Gly)
c.6125A>G (p.Asp2042Gly)
c.6077A>G (p.Asp2026Gly)
c.6044A>G (p.Asp2015Gly)
c.6014A>G (p.Asp2005Gly)
c.6011A>G (p.Asp2004Gly)
c.5963A>G (p.Asp1988Gly)
c.5927A>G (p.Asp1976Gly)
c.5924A>G (p.Asp1975Gly)
c.5879A>G (p.Asp1960Gly)
n.6544A>G
Xg.77574331T>GCA413701227ATRXc.6245A>C (p.Asp2082Ala)
n.80A>C
c.1343A>C (p.Asp448Ala)
c.6131A>C (p.Asp2044Ala)
c.*5873A>C (n.*5873A>C)
c.729A>C
n.3315A>C
c.6242A>C (p.Asp2081Ala)
c.6158A>C (p.Asp2053Ala)
c.6128A>C (p.Asp2043Ala)
c.6080A>C (p.Asp2027Ala)
c.6041A>C (p.Asp2014Ala)
c.5966A>C (p.Asp1989Ala)
n.6587A>C
c.6155A>C (p.Asp2052Ala)
c.6125A>C (p.Asp2042Ala)
c.6077A>C (p.Asp2026Ala)
c.6044A>C (p.Asp2015Ala)
c.6014A>C (p.Asp2005Ala)
c.6011A>C (p.Asp2004Ala)
c.5963A>C (p.Asp1988Ala)
c.5927A>C (p.Asp1976Ala)
c.5924A>C (p.Asp1975Ala)
c.5879A>C (p.Asp1960Ala)
n.6544A>C
Xg.77574332C>ACA413701230ATRXc.6244G>T (p.Asp2082Tyr)
n.79G>T
c.1342G>T (p.Asp448Tyr)
c.6130G>T (p.Asp2044Tyr)
c.*5872G>T (n.*5872G>T)
c.728G>T
n.3314G>T
c.6241G>T (p.Asp2081Tyr)
c.6157G>T (p.Asp2053Tyr)
c.6127G>T (p.Asp2043Tyr)
c.6079G>T (p.Asp2027Tyr)
c.6040G>T (p.Asp2014Tyr)
c.5965G>T (p.Asp1989Tyr)
n.6586G>T
c.6154G>T (p.Asp2052Tyr)
c.6124G>T (p.Asp2042Tyr)
c.6076G>T (p.Asp2026Tyr)
c.6043G>T (p.Asp2015Tyr)
c.6013G>T (p.Asp2005Tyr)
c.6010G>T (p.Asp2004Tyr)
c.5962G>T (p.Asp1988Tyr)
c.5926G>T (p.Asp1976Tyr)
c.5923G>T (p.Asp1975Tyr)
c.5878G>T (p.Asp1960Tyr)
n.6543G>T
Xg.77574332C>GCA413701231ATRXc.6244G>C (p.Asp2082His)
n.79G>C
c.1342G>C (p.Asp448His)
c.6130G>C (p.Asp2044His)
c.*5872G>C (n.*5872G>C)
c.728G>C
n.3314G>C
c.6241G>C (p.Asp2081His)
c.6157G>C (p.Asp2053His)
c.6127G>C (p.Asp2043His)
c.6079G>C (p.Asp2027His)
c.6040G>C (p.Asp2014His)
c.5965G>C (p.Asp1989His)
n.6586G>C
c.6154G>C (p.Asp2052His)
c.6124G>C (p.Asp2042His)
c.6076G>C (p.Asp2026His)
c.6043G>C (p.Asp2015His)
c.6013G>C (p.Asp2005His)
c.6010G>C (p.Asp2004His)
c.5962G>C (p.Asp1988His)
c.5926G>C (p.Asp1976His)
c.5923G>C (p.Asp1975His)
c.5878G>C (p.Asp1960His)
n.6543G>C
Xg.77574332C>TCA413701232ATRXc.6244G>A (p.Asp2082Asn)
n.79G>A
c.1342G>A (p.Asp448Asn)
c.6130G>A (p.Asp2044Asn)
c.*5872G>A (n.*5872G>A)
c.728G>A
n.3314G>A
c.6241G>A (p.Asp2081Asn)
c.6157G>A (p.Asp2053Asn)
c.6127G>A (p.Asp2043Asn)
c.6079G>A (p.Asp2027Asn)
c.6040G>A (p.Asp2014Asn)
c.5965G>A (p.Asp1989Asn)
n.6586G>A
c.6154G>A (p.Asp2052Asn)
c.6124G>A (p.Asp2042Asn)
c.6076G>A (p.Asp2026Asn)
c.6043G>A (p.Asp2015Asn)
c.6013G>A (p.Asp2005Asn)
c.6010G>A (p.Asp2004Asn)
c.5962G>A (p.Asp1988Asn)
c.5926G>A (p.Asp1976Asn)
c.5923G>A (p.Asp1975Asn)
c.5878G>A (p.Asp1960Asn)
n.6543G>A
Xg.77574333A>CCA413701233ATRXc.6243T>G (p.Ile2081Met)
n.78T>G
c.1341T>G (p.Ile447Met)
c.6129T>G (p.Ile2043Met)
c.*5871T>G (n.*5871T>G)
c.727T>G
n.3313T>G
c.6240T>G (p.Ile2080Met)
c.6156T>G (p.Ile2052Met)
c.6126T>G (p.Ile2042Met)
c.6078T>G (p.Ile2026Met)
c.6039T>G (p.Ile2013Met)
c.5964T>G (p.Ile1988Met)
n.6585T>G
c.6153T>G (p.Ile2051Met)
c.6123T>G (p.Ile2041Met)
c.6075T>G (p.Ile2025Met)
c.6042T>G (p.Ile2014Met)
c.6012T>G (p.Ile2004Met)
c.6009T>G (p.Ile2003Met)
c.5961T>G (p.Ile1987Met)
c.5925T>G (p.Ile1975Met)
c.5922T>G (p.Ile1974Met)
c.5877T>G (p.Ile1959Met)
n.6542T>G
Xg.77574333A>GCA517374817ATRXc.6243T>C (p.Ile2081=)
n.78T>C
c.1341T>C (p.Ile447=)
c.6129T>C (p.Ile2043=)
c.*5871T>C (n.*5871T>C)
c.727T>C
n.3313T>C
c.6240T>C (p.Ile2080=)
c.6156T>C (p.Ile2052=)
c.6126T>C (p.Ile2042=)
c.6078T>C (p.Ile2026=)
c.6039T>C (p.Ile2013=)
c.5964T>C (p.Ile1988=)
n.6585T>C
c.6153T>C (p.Ile2051=)
c.6123T>C (p.Ile2041=)
c.6075T>C (p.Ile2025=)
c.6042T>C (p.Ile2014=)
c.6012T>C (p.Ile2004=)
c.6009T>C (p.Ile2003=)
c.5961T>C (p.Ile1987=)
c.5925T>C (p.Ile1975=)
c.5922T>C (p.Ile1974=)
c.5877T>C (p.Ile1959=)
n.6542T>C
 gnomAD v4
Xg.77574333A>TCA517374818ATRXc.6243T>A (p.Ile2081=)
n.78T>A
c.1341T>A (p.Ile447=)
c.6129T>A (p.Ile2043=)
c.*5871T>A (n.*5871T>A)
c.727T>A
n.3313T>A
c.6240T>A (p.Ile2080=)
c.6156T>A (p.Ile2052=)
c.6126T>A (p.Ile2042=)
c.6078T>A (p.Ile2026=)
c.6039T>A (p.Ile2013=)
c.5964T>A (p.Ile1988=)
n.6585T>A
c.6153T>A (p.Ile2051=)
c.6123T>A (p.Ile2041=)
c.6075T>A (p.Ile2025=)
c.6042T>A (p.Ile2014=)
c.6012T>A (p.Ile2004=)
c.6009T>A (p.Ile2003=)
c.5961T>A (p.Ile1987=)
c.5925T>A (p.Ile1975=)
c.5922T>A (p.Ile1974=)
c.5877T>A (p.Ile1959=)
n.6542T>A
 ClinVar dbSNP gnomAD v4
Xg.77574334A>CCA413701234ATRXc.6242T>G (p.Ile2081Ser)
n.77T>G
c.1340T>G (p.Ile447Ser)
c.6128T>G (p.Ile2043Ser)
c.*5870T>G (n.*5870T>G)
c.726T>G
n.3312T>G
c.6239T>G (p.Ile2080Ser)
c.6155T>G (p.Ile2052Ser)
c.6125T>G (p.Ile2042Ser)
c.6077T>G (p.Ile2026Ser)
c.6038T>G (p.Ile2013Ser)
c.5963T>G (p.Ile1988Ser)
n.6584T>G
c.6152T>G (p.Ile2051Ser)
c.6122T>G (p.Ile2041Ser)
c.6074T>G (p.Ile2025Ser)
c.6041T>G (p.Ile2014Ser)
c.6011T>G (p.Ile2004Ser)
c.6008T>G (p.Ile2003Ser)
c.5960T>G (p.Ile1987Ser)
c.5924T>G (p.Ile1975Ser)
c.5921T>G (p.Ile1974Ser)
c.5876T>G (p.Ile1959Ser)
n.6541T>G
Xg.77574334A>GCA413701235ATRXc.6242T>C (p.Ile2081Thr)
n.77T>C
c.1340T>C (p.Ile447Thr)
c.6128T>C (p.Ile2043Thr)
c.*5870T>C (n.*5870T>C)
c.726T>C
n.3312T>C
c.6239T>C (p.Ile2080Thr)
c.6155T>C (p.Ile2052Thr)
c.6125T>C (p.Ile2042Thr)
c.6077T>C (p.Ile2026Thr)
c.6038T>C (p.Ile2013Thr)
c.5963T>C (p.Ile1988Thr)
n.6584T>C
c.6152T>C (p.Ile2051Thr)
c.6122T>C (p.Ile2041Thr)
c.6074T>C (p.Ile2025Thr)
c.6041T>C (p.Ile2014Thr)
c.6011T>C (p.Ile2004Thr)
c.6008T>C (p.Ile2003Thr)
c.5960T>C (p.Ile1987Thr)
c.5924T>C (p.Ile1975Thr)
c.5921T>C (p.Ile1974Thr)
c.5876T>C (p.Ile1959Thr)
n.6541T>C
Xg.77574334A>TCA413701236ATRXc.6242T>A (p.Ile2081Asn)
n.77T>A
c.1340T>A (p.Ile447Asn)
c.6128T>A (p.Ile2043Asn)
c.*5870T>A (n.*5870T>A)
c.726T>A
n.3312T>A
c.6239T>A (p.Ile2080Asn)
c.6155T>A (p.Ile2052Asn)
c.6125T>A (p.Ile2042Asn)
c.6077T>A (p.Ile2026Asn)
c.6038T>A (p.Ile2013Asn)
c.5963T>A (p.Ile1988Asn)
n.6584T>A
c.6152T>A (p.Ile2051Asn)
c.6122T>A (p.Ile2041Asn)
c.6074T>A (p.Ile2025Asn)
c.6041T>A (p.Ile2014Asn)
c.6011T>A (p.Ile2004Asn)
c.6008T>A (p.Ile2003Asn)
c.5960T>A (p.Ile1987Asn)
c.5924T>A (p.Ile1975Asn)
c.5921T>A (p.Ile1974Asn)
c.5876T>A (p.Ile1959Asn)
n.6541T>A
Xg.77574335T>ACA413701237ATRXc.6241A>T (p.Ile2081Phe)
n.76A>T
c.1339A>T (p.Ile447Phe)
c.6127A>T (p.Ile2043Phe)
c.*5869A>T (n.*5869A>T)
c.725A>T
n.3311A>T
c.6238A>T (p.Ile2080Phe)
c.6154A>T (p.Ile2052Phe)
c.6124A>T (p.Ile2042Phe)
c.6076A>T (p.Ile2026Phe)
c.6037A>T (p.Ile2013Phe)
c.5962A>T (p.Ile1988Phe)
n.6583A>T
c.6151A>T (p.Ile2051Phe)
c.6121A>T (p.Ile2041Phe)
c.6073A>T (p.Ile2025Phe)
c.6040A>T (p.Ile2014Phe)
c.6010A>T (p.Ile2004Phe)
c.6007A>T (p.Ile2003Phe)
c.5959A>T (p.Ile1987Phe)
c.5923A>T (p.Ile1975Phe)
c.5920A>T (p.Ile1974Phe)
c.5875A>T (p.Ile1959Phe)
n.6540A>T
 ClinVar
Xg.77574335T>CCA413701238ATRXc.6241A>G (p.Ile2081Val)
n.76A>G
c.1339A>G (p.Ile447Val)
c.6127A>G (p.Ile2043Val)
c.*5869A>G (n.*5869A>G)
c.725A>G
n.3311A>G
c.6238A>G (p.Ile2080Val)
c.6154A>G (p.Ile2052Val)
c.6124A>G (p.Ile2042Val)
c.6076A>G (p.Ile2026Val)
c.6037A>G (p.Ile2013Val)
c.5962A>G (p.Ile1988Val)
n.6583A>G
c.6151A>G (p.Ile2051Val)
c.6121A>G (p.Ile2041Val)
c.6073A>G (p.Ile2025Val)
c.6040A>G (p.Ile2014Val)
c.6010A>G (p.Ile2004Val)
c.6007A>G (p.Ile2003Val)
c.5959A>G (p.Ile1987Val)
c.5923A>G (p.Ile1975Val)
c.5920A>G (p.Ile1974Val)
c.5875A>G (p.Ile1959Val)
n.6540A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.77574335T>GCA413701239ATRXc.6241A>C (p.Ile2081Leu)
n.76A>C
c.1339A>C (p.Ile447Leu)
c.6127A>C (p.Ile2043Leu)
c.*5869A>C (n.*5869A>C)
c.725A>C
n.3311A>C
c.6238A>C (p.Ile2080Leu)
c.6154A>C (p.Ile2052Leu)
c.6124A>C (p.Ile2042Leu)
c.6076A>C (p.Ile2026Leu)
c.6037A>C (p.Ile2013Leu)
c.5962A>C (p.Ile1988Leu)
n.6583A>C
c.6151A>C (p.Ile2051Leu)
c.6121A>C (p.Ile2041Leu)
c.6073A>C (p.Ile2025Leu)
c.6040A>C (p.Ile2014Leu)
c.6010A>C (p.Ile2004Leu)
c.6007A>C (p.Ile2003Leu)
c.5959A>C (p.Ile1987Leu)
c.5923A>C (p.Ile1975Leu)
c.5920A>C (p.Ile1974Leu)
c.5875A>C (p.Ile1959Leu)
n.6540A>C
Xg.77574335T=CA2438951403ATRXc.6241A= (p.Ile2081=)
n.76A=
c.1339A= (p.Ile447=)
c.6127A= (p.Ile2043=)
c.*5869A= (n.*5869A=)
c.725A=
n.3311A=
c.6238A= (p.Ile2080=)
c.6154A= (p.Ile2052=)
c.6124A= (p.Ile2042=)
c.6076A= (p.Ile2026=)
c.6037A= (p.Ile2013=)
c.5962A= (p.Ile1988=)
n.6583A=
c.6151A= (p.Ile2051=)
c.6121A= (p.Ile2041=)
c.6073A= (p.Ile2025=)
c.6040A= (p.Ile2014=)
c.6010A= (p.Ile2004=)
c.6007A= (p.Ile2003=)
c.5959A= (p.Ile1987=)
c.5923A= (p.Ile1975=)
c.5920A= (p.Ile1974=)
c.5875A= (p.Ile1959=)
n.6540A=
Xg.77574336G>ACA517374819ATRXc.6240C>T (p.Asn2080=)
n.75C>T
c.1338C>T (p.Asn446=)
c.6126C>T (p.Asn2042=)
c.*5868C>T (n.*5868C>T)
c.724C>T
n.3310C>T
c.6237C>T (p.Asn2079=)
c.6153C>T (p.Asn2051=)
c.6123C>T (p.Asn2041=)
c.6075C>T (p.Asn2025=)
c.6036C>T (p.Asn2012=)
c.5961C>T (p.Asn1987=)
n.6582C>T
c.6150C>T (p.Asn2050=)
c.6120C>T (p.Asn2040=)
c.6072C>T (p.Asn2024=)
c.6039C>T (p.Asn2013=)
c.6009C>T (p.Asn2003=)
c.6006C>T (p.Asn2002=)
c.5958C>T (p.Asn1986=)
c.5922C>T (p.Asn1974=)
c.5919C>T (p.Asn1973=)
c.5874C>T (p.Asn1958=)
n.6539C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.77574336G>CCA413701240ATRXc.6240C>G (p.Asn2080Lys)
n.75C>G
c.1338C>G (p.Asn446Lys)
c.6126C>G (p.Asn2042Lys)
c.*5868C>G (n.*5868C>G)
c.724C>G
n.3310C>G
c.6237C>G (p.Asn2079Lys)
c.6153C>G (p.Asn2051Lys)
c.6123C>G (p.Asn2041Lys)
c.6075C>G (p.Asn2025Lys)
c.6036C>G (p.Asn2012Lys)
c.5961C>G (p.Asn1987Lys)
n.6582C>G
c.6150C>G (p.Asn2050Lys)
c.6120C>G (p.Asn2040Lys)
c.6072C>G (p.Asn2024Lys)
c.6039C>G (p.Asn2013Lys)
c.6009C>G (p.Asn2003Lys)
c.6006C>G (p.Asn2002Lys)
c.5958C>G (p.Asn1986Lys)
c.5922C>G (p.Asn1974Lys)
c.5919C>G (p.Asn1973Lys)
c.5874C>G (p.Asn1958Lys)
n.6539C>G
Xg.77574336G=CA2438951404ATRXc.6240C= (p.Asn2080=)
n.75C=
c.1338C= (p.Asn446=)
c.6126C= (p.Asn2042=)
c.*5868C= (n.*5868C=)
c.724C=
n.3310C=
c.6237C= (p.Asn2079=)
c.6153C= (p.Asn2051=)
c.6123C= (p.Asn2041=)
c.6075C= (p.Asn2025=)
c.6036C= (p.Asn2012=)
c.5961C= (p.Asn1987=)
n.6582C=
c.6150C= (p.Asn2050=)
c.6120C= (p.Asn2040=)
c.6072C= (p.Asn2024=)
c.6039C= (p.Asn2013=)
c.6009C= (p.Asn2003=)
c.6006C= (p.Asn2002=)
c.5958C= (p.Asn1986=)
c.5922C= (p.Asn1974=)
c.5919C= (p.Asn1973=)
c.5874C= (p.Asn1958=)
n.6539C=
Xg.77574336G>TCA413701241ATRXc.6240C>A (p.Asn2080Lys)
n.75C>A
c.1338C>A (p.Asn446Lys)
c.6126C>A (p.Asn2042Lys)
c.*5868C>A (n.*5868C>A)
c.724C>A
n.3310C>A
c.6237C>A (p.Asn2079Lys)
c.6153C>A (p.Asn2051Lys)
c.6123C>A (p.Asn2041Lys)
c.6075C>A (p.Asn2025Lys)
c.6036C>A (p.Asn2012Lys)
c.5961C>A (p.Asn1987Lys)
n.6582C>A
c.6150C>A (p.Asn2050Lys)
c.6120C>A (p.Asn2040Lys)
c.6072C>A (p.Asn2024Lys)
c.6039C>A (p.Asn2013Lys)
c.6009C>A (p.Asn2003Lys)
c.6006C>A (p.Asn2002Lys)
c.5958C>A (p.Asn1986Lys)
c.5922C>A (p.Asn1974Lys)
c.5919C>A (p.Asn1973Lys)
c.5874C>A (p.Asn1958Lys)
n.6539C>A
Xg.77574337T>ACA413701244ATRXc.6239A>T (p.Asn2080Ile)
n.74A>T
c.1337A>T (p.Asn446Ile)
c.6125A>T (p.Asn2042Ile)
c.*5867A>T (n.*5867A>T)
c.723A>T
n.3309A>T
c.6236A>T (p.Asn2079Ile)
c.6152A>T (p.Asn2051Ile)
c.6122A>T (p.Asn2041Ile)
c.6074A>T (p.Asn2025Ile)
c.6035A>T (p.Asn2012Ile)
c.5960A>T (p.Asn1987Ile)
n.6581A>T
c.6149A>T (p.Asn2050Ile)
c.6119A>T (p.Asn2040Ile)
c.6071A>T (p.Asn2024Ile)
c.6038A>T (p.Asn2013Ile)
c.6008A>T (p.Asn2003Ile)
c.6005A>T (p.Asn2002Ile)
c.5957A>T (p.Asn1986Ile)
c.5921A>T (p.Asn1974Ile)
c.5918A>T (p.Asn1973Ile)
c.5873A>T (p.Asn1958Ile)
n.6538A>T
Xg.77574337T>CCA413701242ATRXc.6239A>G (p.Asn2080Ser)
n.74A>G
c.1337A>G (p.Asn446Ser)
c.6125A>G (p.Asn2042Ser)
c.*5867A>G (n.*5867A>G)
c.723A>G
n.3309A>G
c.6236A>G (p.Asn2079Ser)
c.6152A>G (p.Asn2051Ser)
c.6122A>G (p.Asn2041Ser)
c.6074A>G (p.Asn2025Ser)
c.6035A>G (p.Asn2012Ser)
c.5960A>G (p.Asn1987Ser)
n.6581A>G
c.6149A>G (p.Asn2050Ser)
c.6119A>G (p.Asn2040Ser)
c.6071A>G (p.Asn2024Ser)
c.6038A>G (p.Asn2013Ser)
c.6008A>G (p.Asn2003Ser)
c.6005A>G (p.Asn2002Ser)
c.5957A>G (p.Asn1986Ser)
c.5921A>G (p.Asn1974Ser)
c.5918A>G (p.Asn1973Ser)
c.5873A>G (p.Asn1958Ser)
n.6538A>G
Xg.77574337T>GCA413701243ATRXc.6239A>C (p.Asn2080Thr)
n.74A>C
c.1337A>C (p.Asn446Thr)
c.6125A>C (p.Asn2042Thr)
c.*5867A>C (n.*5867A>C)
c.723A>C
n.3309A>C
c.6236A>C (p.Asn2079Thr)
c.6152A>C (p.Asn2051Thr)
c.6122A>C (p.Asn2041Thr)
c.6074A>C (p.Asn2025Thr)
c.6035A>C (p.Asn2012Thr)
c.5960A>C (p.Asn1987Thr)
n.6581A>C
c.6149A>C (p.Asn2050Thr)
c.6119A>C (p.Asn2040Thr)
c.6071A>C (p.Asn2024Thr)
c.6038A>C (p.Asn2013Thr)
c.6008A>C (p.Asn2003Thr)
c.6005A>C (p.Asn2002Thr)
c.5957A>C (p.Asn1986Thr)
c.5921A>C (p.Asn1974Thr)
c.5918A>C (p.Asn1973Thr)
c.5873A>C (p.Asn1958Thr)
n.6538A>C
Xg.77574338T>ACA413701245ATRXc.6238A>T (p.Asn2080Tyr)
n.73A>T
c.1336A>T (p.Asn446Tyr)
c.6124A>T (p.Asn2042Tyr)
c.*5866A>T (n.*5866A>T)
c.722A>T
n.3308A>T
c.6235A>T (p.Asn2079Tyr)
c.6151A>T (p.Asn2051Tyr)
c.6121A>T (p.Asn2041Tyr)
c.6073A>T (p.Asn2025Tyr)
c.6034A>T (p.Asn2012Tyr)
c.5959A>T (p.Asn1987Tyr)
n.6580A>T
c.6148A>T (p.Asn2050Tyr)
c.6118A>T (p.Asn2040Tyr)
c.6070A>T (p.Asn2024Tyr)
c.6037A>T (p.Asn2013Tyr)
c.6007A>T (p.Asn2003Tyr)
c.6004A>T (p.Asn2002Tyr)
c.5956A>T (p.Asn1986Tyr)
c.5920A>T (p.Asn1974Tyr)
c.5917A>T (p.Asn1973Tyr)
c.5872A>T (p.Asn1958Tyr)
n.6537A>T
Xg.77574338T>CCA413701246ATRXc.6238A>G (p.Asn2080Asp)
n.73A>G
c.1336A>G (p.Asn446Asp)
c.6124A>G (p.Asn2042Asp)
c.*5866A>G (n.*5866A>G)
c.722A>G
n.3308A>G
c.6235A>G (p.Asn2079Asp)
c.6151A>G (p.Asn2051Asp)
c.6121A>G (p.Asn2041Asp)
c.6073A>G (p.Asn2025Asp)
c.6034A>G (p.Asn2012Asp)
c.5959A>G (p.Asn1987Asp)
n.6580A>G
c.6148A>G (p.Asn2050Asp)
c.6118A>G (p.Asn2040Asp)
c.6070A>G (p.Asn2024Asp)
c.6037A>G (p.Asn2013Asp)
c.6007A>G (p.Asn2003Asp)
c.6004A>G (p.Asn2002Asp)
c.5956A>G (p.Asn1986Asp)
c.5920A>G (p.Asn1974Asp)
c.5917A>G (p.Asn1973Asp)
c.5872A>G (p.Asn1958Asp)
n.6537A>G
Xg.77574338T>GCA413701247ATRXc.6238A>C (p.Asn2080His)
n.73A>C
c.1336A>C (p.Asn446His)
c.6124A>C (p.Asn2042His)
c.*5866A>C (n.*5866A>C)
c.722A>C
n.3308A>C
c.6235A>C (p.Asn2079His)
c.6151A>C (p.Asn2051His)
c.6121A>C (p.Asn2041His)
c.6073A>C (p.Asn2025His)
c.6034A>C (p.Asn2012His)
c.5959A>C (p.Asn1987His)
n.6580A>C
c.6148A>C (p.Asn2050His)
c.6118A>C (p.Asn2040His)
c.6070A>C (p.Asn2024His)
c.6037A>C (p.Asn2013His)
c.6007A>C (p.Asn2003His)
c.6004A>C (p.Asn2002His)
c.5956A>C (p.Asn1986His)
c.5920A>C (p.Asn1974His)
c.5917A>C (p.Asn1973His)
c.5872A>C (p.Asn1958His)
n.6537A>C
Xg.77574339T>ACA517374828ATRXc.6237A>T (p.Arg2079=)
n.72A>T
c.1335A>T (p.Arg445=)
c.6123A>T (p.Arg2041=)
c.*5865A>T (n.*5865A>T)
c.721A>T
n.3307A>T
c.6234A>T (p.Arg2078=)
c.6150A>T (p.Arg2050=)
c.6120A>T (p.Arg2040=)
c.6072A>T (p.Arg2024=)
c.6033A>T (p.Arg2011=)
c.5958A>T (p.Arg1986=)
n.6579A>T
c.6147A>T (p.Arg2049=)
c.6117A>T (p.Arg2039=)
c.6069A>T (p.Arg2023=)
c.6036A>T (p.Arg2012=)
c.6006A>T (p.Arg2002=)
c.6003A>T (p.Arg2001=)
c.5955A>T (p.Arg1985=)
c.5919A>T (p.Arg1973=)
c.5916A>T (p.Arg1972=)
c.5871A>T (p.Arg1957=)
n.6536A>T
Xg.77574339T>CCA517374827ATRXc.6237A>G (p.Arg2079=)
n.72A>G
c.1335A>G (p.Arg445=)
c.6123A>G (p.Arg2041=)
c.*5865A>G (n.*5865A>G)
c.721A>G
n.3307A>G
c.6234A>G (p.Arg2078=)
c.6150A>G (p.Arg2050=)
c.6120A>G (p.Arg2040=)
c.6072A>G (p.Arg2024=)
c.6033A>G (p.Arg2011=)
c.5958A>G (p.Arg1986=)
n.6579A>G
c.6147A>G (p.Arg2049=)
c.6117A>G (p.Arg2039=)
c.6069A>G (p.Arg2023=)
c.6036A>G (p.Arg2012=)
c.6006A>G (p.Arg2002=)
c.6003A>G (p.Arg2001=)
c.5955A>G (p.Arg1985=)
c.5919A>G (p.Arg1973=)
c.5916A>G (p.Arg1972=)
c.5871A>G (p.Arg1957=)
n.6536A>G
Xg.77574339T>GCA517374826ATRXc.6237A>C (p.Arg2079=)
n.72A>C
c.1335A>C (p.Arg445=)
c.6123A>C (p.Arg2041=)
c.*5865A>C (n.*5865A>C)
c.721A>C
n.3307A>C
c.6234A>C (p.Arg2078=)
c.6150A>C (p.Arg2050=)
c.6120A>C (p.Arg2040=)
c.6072A>C (p.Arg2024=)
c.6033A>C (p.Arg2011=)
c.5958A>C (p.Arg1986=)
n.6579A>C
c.6147A>C (p.Arg2049=)
c.6117A>C (p.Arg2039=)
c.6069A>C (p.Arg2023=)
c.6036A>C (p.Arg2012=)
c.6006A>C (p.Arg2002=)
c.6003A>C (p.Arg2001=)
c.5955A>C (p.Arg1985=)
c.5919A>C (p.Arg1973=)
c.5916A>C (p.Arg1972=)
c.5871A>C (p.Arg1957=)
n.6536A>C
Xg.77574340delCA2579648816ATRXc.6236del (p.Arg2079GlnfsTer8)
n.71del
c.1334del (p.Arg445GlnfsTer8)
c.6122del (p.Arg2041GlnfsTer8)
c.*5864del (n.*5864del)
c.720del
n.3306del
c.6233del (p.Arg2078GlnfsTer8)
c.6149del (p.Arg2050GlnfsTer8)
c.6119del (p.Arg2040GlnfsTer8)
c.6071del (p.Arg2024GlnfsTer8)
c.6032del (p.Arg2011GlnfsTer8)
c.5957del (p.Arg1986GlnfsTer8)
n.6578del
c.6146del (p.Arg2049GlnfsTer8)
c.6116del (p.Arg2039GlnfsTer8)
c.6068del (p.Arg2023GlnfsTer8)
c.6035del (p.Arg2012GlnfsTer8)
c.6005del (p.Arg2002GlnfsTer8)
c.6002del (p.Arg2001GlnfsTer8)
c.5954del (p.Arg1985GlnfsTer8)
c.5918del (p.Arg1973GlnfsTer8)
c.5915del (p.Arg1972GlnfsTer8)
c.5870del (p.Arg1957GlnfsTer8)
n.6535del
Xg.77574340C>ACA413701248ATRXc.6236G>T (p.Arg2079Leu)
n.71G>T
c.1334G>T (p.Arg445Leu)
c.6122G>T (p.Arg2041Leu)
c.*5864G>T (n.*5864G>T)
c.720G>T
n.3306G>T
c.6233G>T (p.Arg2078Leu)
c.6149G>T (p.Arg2050Leu)
c.6119G>T (p.Arg2040Leu)
c.6071G>T (p.Arg2024Leu)
c.6032G>T (p.Arg2011Leu)
c.5957G>T (p.Arg1986Leu)
n.6578G>T
c.6146G>T (p.Arg2049Leu)
c.6116G>T (p.Arg2039Leu)
c.6068G>T (p.Arg2023Leu)
c.6035G>T (p.Arg2012Leu)
c.6005G>T (p.Arg2002Leu)
c.6002G>T (p.Arg2001Leu)
c.5954G>T (p.Arg1985Leu)
c.5918G>T (p.Arg1973Leu)
c.5915G>T (p.Arg1972Leu)
c.5870G>T (p.Arg1957Leu)
n.6535G>T
Xg.77574340C>GCA413701249ATRXc.6236G>C (p.Arg2079Pro)
n.71G>C
c.1334G>C (p.Arg445Pro)
c.6122G>C (p.Arg2041Pro)
c.*5864G>C (n.*5864G>C)
c.720G>C
n.3306G>C
c.6233G>C (p.Arg2078Pro)
c.6149G>C (p.Arg2050Pro)
c.6119G>C (p.Arg2040Pro)
c.6071G>C (p.Arg2024Pro)
c.6032G>C (p.Arg2011Pro)
c.5957G>C (p.Arg1986Pro)
n.6578G>C
c.6146G>C (p.Arg2049Pro)
c.6116G>C (p.Arg2039Pro)
c.6068G>C (p.Arg2023Pro)
c.6035G>C (p.Arg2012Pro)
c.6005G>C (p.Arg2002Pro)
c.6002G>C (p.Arg2001Pro)
c.5954G>C (p.Arg1985Pro)
c.5918G>C (p.Arg1973Pro)
c.5915G>C (p.Arg1972Pro)
c.5870G>C (p.Arg1957Pro)
n.6535G>C
Xg.77574340C>TCA413701250ATRXc.6236G>A (p.Arg2079Gln)
n.71G>A
c.1334G>A (p.Arg445Gln)
c.6122G>A (p.Arg2041Gln)
c.*5864G>A (n.*5864G>A)
c.720G>A
n.3306G>A
c.6233G>A (p.Arg2078Gln)
c.6149G>A (p.Arg2050Gln)
c.6119G>A (p.Arg2040Gln)
c.6071G>A (p.Arg2024Gln)
c.6032G>A (p.Arg2011Gln)
c.5957G>A (p.Arg1986Gln)
n.6578G>A
c.6146G>A (p.Arg2049Gln)
c.6116G>A (p.Arg2039Gln)
c.6068G>A (p.Arg2023Gln)
c.6035G>A (p.Arg2012Gln)
c.6005G>A (p.Arg2002Gln)
c.6002G>A (p.Arg2001Gln)
c.5954G>A (p.Arg1985Gln)
c.5918G>A (p.Arg1973Gln)
c.5915G>A (p.Arg1972Gln)
c.5870G>A (p.Arg1957Gln)
n.6535G>A
 dbSNP COSMIC COSMIC
Xg.77574341G>ACA413701251ATRXc.6235C>T (p.Arg2079Ter)
n.70C>T
c.1333C>T (p.Arg445Ter)
c.6121C>T (p.Arg2041Ter)
c.*5863C>T (n.*5863C>T)
c.719C>T
n.3305C>T
c.6232C>T (p.Arg2078Ter)
c.6148C>T (p.Arg2050Ter)
c.6118C>T (p.Arg2040Ter)
c.6070C>T (p.Arg2024Ter)
c.6031C>T (p.Arg2011Ter)
c.5956C>T (p.Arg1986Ter)
n.6577C>T
c.6145C>T (p.Arg2049Ter)
c.6115C>T (p.Arg2039Ter)
c.6067C>T (p.Arg2023Ter)
c.6034C>T (p.Arg2012Ter)
c.6004C>T (p.Arg2002Ter)
c.6001C>T (p.Arg2001Ter)
c.5953C>T (p.Arg1985Ter)
c.5917C>T (p.Arg1973Ter)
c.5914C>T (p.Arg1972Ter)
c.5869C>T (p.Arg1957Ter)
n.6534C>T
 ClinVar dbSNP COSMIC COSMIC
Xg.77574341G>CCA413701252ATRXc.6235C>G (p.Arg2079Gly)
n.70C>G
c.1333C>G (p.Arg445Gly)
c.6121C>G (p.Arg2041Gly)
c.*5863C>G (n.*5863C>G)
c.719C>G
n.3305C>G
c.6232C>G (p.Arg2078Gly)
c.6148C>G (p.Arg2050Gly)
c.6118C>G (p.Arg2040Gly)
c.6070C>G (p.Arg2024Gly)
c.6031C>G (p.Arg2011Gly)
c.5956C>G (p.Arg1986Gly)
n.6577C>G
c.6145C>G (p.Arg2049Gly)
c.6115C>G (p.Arg2039Gly)
c.6067C>G (p.Arg2023Gly)
c.6034C>G (p.Arg2012Gly)
c.6004C>G (p.Arg2002Gly)
c.6001C>G (p.Arg2001Gly)
c.5953C>G (p.Arg1985Gly)
c.5917C>G (p.Arg1973Gly)
c.5914C>G (p.Arg1972Gly)
c.5869C>G (p.Arg1957Gly)
n.6534C>G
 dbSNP
Xg.77574341G>TCA517374830ATRXc.6235C>A (p.Arg2079=)
n.70C>A
c.1333C>A (p.Arg445=)
c.6121C>A (p.Arg2041=)
c.*5863C>A (n.*5863C>A)
c.719C>A
n.3305C>A
c.6232C>A (p.Arg2078=)
c.6148C>A (p.Arg2050=)
c.6118C>A (p.Arg2040=)
c.6070C>A (p.Arg2024=)
c.6031C>A (p.Arg2011=)
c.5956C>A (p.Arg1986=)
n.6577C>A
c.6145C>A (p.Arg2049=)
c.6115C>A (p.Arg2039=)
c.6067C>A (p.Arg2023=)
c.6034C>A (p.Arg2012=)
c.6004C>A (p.Arg2002=)
c.6001C>A (p.Arg2001=)
c.5953C>A (p.Arg1985=)
c.5917C>A (p.Arg1973=)
c.5914C>A (p.Arg1972=)
c.5869C>A (p.Arg1957=)
n.6534C>A
Xg.77574342A>CCA517374831ATRXc.6234T>G (p.Leu2078=)
n.69T>G
c.1332T>G (p.Leu444=)
c.6120T>G (p.Leu2040=)
c.*5862T>G (n.*5862T>G)
c.718T>G
n.3304T>G
c.6231T>G (p.Leu2077=)
c.6147T>G (p.Leu2049=)
c.6117T>G (p.Leu2039=)
c.6069T>G (p.Leu2023=)
c.6030T>G (p.Leu2010=)
c.5955T>G (p.Leu1985=)
n.6576T>G
c.6144T>G (p.Leu2048=)
c.6114T>G (p.Leu2038=)
c.6066T>G (p.Leu2022=)
c.6033T>G (p.Leu2011=)
c.6003T>G (p.Leu2001=)
c.6000T>G (p.Leu2000=)
c.5952T>G (p.Leu1984=)
c.5916T>G (p.Leu1972=)
c.5913T>G (p.Leu1971=)
c.5868T>G (p.Leu1956=)
n.6533T>G
Xg.77574342A>GCA517374832ATRXc.6234T>C (p.Leu2078=)
n.69T>C
c.1332T>C (p.Leu444=)
c.6120T>C (p.Leu2040=)
c.*5862T>C (n.*5862T>C)
c.718T>C
n.3304T>C
c.6231T>C (p.Leu2077=)
c.6147T>C (p.Leu2049=)
c.6117T>C (p.Leu2039=)
c.6069T>C (p.Leu2023=)
c.6030T>C (p.Leu2010=)
c.5955T>C (p.Leu1985=)
n.6576T>C
c.6144T>C (p.Leu2048=)
c.6114T>C (p.Leu2038=)
c.6066T>C (p.Leu2022=)
c.6033T>C (p.Leu2011=)
c.6003T>C (p.Leu2001=)
c.6000T>C (p.Leu2000=)
c.5952T>C (p.Leu1984=)
c.5916T>C (p.Leu1972=)
c.5913T>C (p.Leu1971=)
c.5868T>C (p.Leu1956=)
n.6533T>C
Xg.77574342A>TCA517374833ATRXc.6234T>A (p.Leu2078=)
n.69T>A
c.1332T>A (p.Leu444=)
c.6120T>A (p.Leu2040=)
c.*5862T>A (n.*5862T>A)
c.718T>A
n.3304T>A
c.6231T>A (p.Leu2077=)
c.6147T>A (p.Leu2049=)
c.6117T>A (p.Leu2039=)
c.6069T>A (p.Leu2023=)
c.6030T>A (p.Leu2010=)
c.5955T>A (p.Leu1985=)
n.6576T>A
c.6144T>A (p.Leu2048=)
c.6114T>A (p.Leu2038=)
c.6066T>A (p.Leu2022=)
c.6033T>A (p.Leu2011=)
c.6003T>A (p.Leu2001=)
c.6000T>A (p.Leu2000=)
c.5952T>A (p.Leu1984=)
c.5916T>A (p.Leu1972=)
c.5913T>A (p.Leu1971=)
c.5868T>A (p.Leu1956=)
n.6533T>A
Xg.77574343A>CCA413701253ATRXc.6233T>G (p.Leu2078Arg)
n.68T>G
c.1331T>G (p.Leu444Arg)
c.6119T>G (p.Leu2040Arg)
c.*5861T>G (n.*5861T>G)
c.717T>G
n.3303T>G
c.6230T>G (p.Leu2077Arg)
c.6146T>G (p.Leu2049Arg)
c.6116T>G (p.Leu2039Arg)
c.6068T>G (p.Leu2023Arg)
c.6029T>G (p.Leu2010Arg)
c.5954T>G (p.Leu1985Arg)
n.6575T>G
c.6143T>G (p.Leu2048Arg)
c.6113T>G (p.Leu2038Arg)
c.6065T>G (p.Leu2022Arg)
c.6032T>G (p.Leu2011Arg)
c.6002T>G (p.Leu2001Arg)
c.5999T>G (p.Leu2000Arg)
c.5951T>G (p.Leu1984Arg)
c.5915T>G (p.Leu1972Arg)
c.5912T>G (p.Leu1971Arg)
c.5867T>G (p.Leu1956Arg)
n.6532T>G
Xg.77574343A>GCA413701254ATRXc.6233T>C (p.Leu2078Pro)
n.68T>C
c.1331T>C (p.Leu444Pro)
c.6119T>C (p.Leu2040Pro)
c.*5861T>C (n.*5861T>C)
c.717T>C
n.3303T>C
c.6230T>C (p.Leu2077Pro)
c.6146T>C (p.Leu2049Pro)
c.6116T>C (p.Leu2039Pro)
c.6068T>C (p.Leu2023Pro)
c.6029T>C (p.Leu2010Pro)
c.5954T>C (p.Leu1985Pro)
n.6575T>C
c.6143T>C (p.Leu2048Pro)
c.6113T>C (p.Leu2038Pro)
c.6065T>C (p.Leu2022Pro)
c.6032T>C (p.Leu2011Pro)
c.6002T>C (p.Leu2001Pro)
c.5999T>C (p.Leu2000Pro)
c.5951T>C (p.Leu1984Pro)
c.5915T>C (p.Leu1972Pro)
c.5912T>C (p.Leu1971Pro)
c.5867T>C (p.Leu1956Pro)
n.6532T>C
Xg.77574343A>TCA413701255ATRXc.6233T>A (p.Leu2078His)
n.68T>A
c.1331T>A (p.Leu444His)
c.6119T>A (p.Leu2040His)
c.*5861T>A (n.*5861T>A)
c.717T>A
n.3303T>A
c.6230T>A (p.Leu2077His)
c.6146T>A (p.Leu2049His)
c.6116T>A (p.Leu2039His)
c.6068T>A (p.Leu2023His)
c.6029T>A (p.Leu2010His)
c.5954T>A (p.Leu1985His)
n.6575T>A
c.6143T>A (p.Leu2048His)
c.6113T>A (p.Leu2038His)
c.6065T>A (p.Leu2022His)
c.6032T>A (p.Leu2011His)
c.6002T>A (p.Leu2001His)
c.5999T>A (p.Leu2000His)
c.5951T>A (p.Leu1984His)
c.5915T>A (p.Leu1972His)
c.5912T>A (p.Leu1971His)
c.5867T>A (p.Leu1956His)
n.6532T>A
Xg.77574344G>ACA413701258ATRXc.6232C>T (p.Leu2078Phe)
n.67C>T
c.1330C>T (p.Leu444Phe)
c.6118C>T (p.Leu2040Phe)
c.*5860C>T (n.*5860C>T)
c.716C>T
n.3302C>T
c.6229C>T (p.Leu2077Phe)
c.6145C>T (p.Leu2049Phe)
c.6115C>T (p.Leu2039Phe)
c.6067C>T (p.Leu2023Phe)
c.6028C>T (p.Leu2010Phe)
c.5953C>T (p.Leu1985Phe)
n.6574C>T
c.6142C>T (p.Leu2048Phe)
c.6112C>T (p.Leu2038Phe)
c.6064C>T (p.Leu2022Phe)
c.6031C>T (p.Leu2011Phe)
c.6001C>T (p.Leu2001Phe)
c.5998C>T (p.Leu2000Phe)
c.5950C>T (p.Leu1984Phe)
c.5914C>T (p.Leu1972Phe)
c.5911C>T (p.Leu1971Phe)
c.5866C>T (p.Leu1956Phe)
n.6531C>T
Xg.77574344G>CCA413701257ATRXc.6232C>G (p.Leu2078Val)
n.67C>G
c.1330C>G (p.Leu444Val)
c.6118C>G (p.Leu2040Val)
c.*5860C>G (n.*5860C>G)
c.716C>G
n.3302C>G
c.6229C>G (p.Leu2077Val)
c.6145C>G (p.Leu2049Val)
c.6115C>G (p.Leu2039Val)
c.6067C>G (p.Leu2023Val)
c.6028C>G (p.Leu2010Val)
c.5953C>G (p.Leu1985Val)
n.6574C>G
c.6142C>G (p.Leu2048Val)
c.6112C>G (p.Leu2038Val)
c.6064C>G (p.Leu2022Val)
c.6031C>G (p.Leu2011Val)
c.6001C>G (p.Leu2001Val)
c.5998C>G (p.Leu2000Val)
c.5950C>G (p.Leu1984Val)
c.5914C>G (p.Leu1972Val)
c.5911C>G (p.Leu1971Val)
c.5866C>G (p.Leu1956Val)
n.6531C>G
Xg.77574344G>TCA413701256ATRXc.6232C>A (p.Leu2078Ile)
n.67C>A
c.1330C>A (p.Leu444Ile)
c.6118C>A (p.Leu2040Ile)
c.*5860C>A (n.*5860C>A)
c.716C>A
n.3302C>A
c.6229C>A (p.Leu2077Ile)
c.6145C>A (p.Leu2049Ile)
c.6115C>A (p.Leu2039Ile)
c.6067C>A (p.Leu2023Ile)
c.6028C>A (p.Leu2010Ile)
c.5953C>A (p.Leu1985Ile)
n.6574C>A
c.6142C>A (p.Leu2048Ile)
c.6112C>A (p.Leu2038Ile)
c.6064C>A (p.Leu2022Ile)
c.6031C>A (p.Leu2011Ile)
c.6001C>A (p.Leu2001Ile)
c.5998C>A (p.Leu2000Ile)
c.5950C>A (p.Leu1984Ile)
c.5914C>A (p.Leu1972Ile)
c.5911C>A (p.Leu1971Ile)
c.5866C>A (p.Leu1956Ile)
n.6531C>A
 gnomAD v4
Xg.77574345C>ACA413701259ATRXc.6231G>T (p.Trp2077Cys)
n.66G>T
c.1329G>T (p.Trp443Cys)
c.6117G>T (p.Trp2039Cys)
c.*5859G>T (n.*5859G>T)
c.715G>T
n.3301G>T
c.6228G>T (p.Trp2076Cys)
c.6144G>T (p.Trp2048Cys)
c.6114G>T (p.Trp2038Cys)
c.6066G>T (p.Trp2022Cys)
c.6027G>T (p.Trp2009Cys)
c.5952G>T (p.Trp1984Cys)
n.6573G>T
c.6141G>T (p.Trp2047Cys)
c.6111G>T (p.Trp2037Cys)
c.6063G>T (p.Trp2021Cys)
c.6030G>T (p.Trp2010Cys)
c.6000G>T (p.Trp2000Cys)
c.5997G>T (p.Trp1999Cys)
c.5949G>T (p.Trp1983Cys)
c.5913G>T (p.Trp1971Cys)
c.5910G>T (p.Trp1970Cys)
c.5865G>T (p.Trp1955Cys)
n.6530G>T
Xg.77574345C>GCA413701261ATRXc.6231G>C (p.Trp2077Cys)
n.66G>C
c.1329G>C (p.Trp443Cys)
c.6117G>C (p.Trp2039Cys)
c.*5859G>C (n.*5859G>C)
c.715G>C
n.3301G>C
c.6228G>C (p.Trp2076Cys)
c.6144G>C (p.Trp2048Cys)
c.6114G>C (p.Trp2038Cys)
c.6066G>C (p.Trp2022Cys)
c.6027G>C (p.Trp2009Cys)
c.5952G>C (p.Trp1984Cys)
n.6573G>C
c.6141G>C (p.Trp2047Cys)
c.6111G>C (p.Trp2037Cys)
c.6063G>C (p.Trp2021Cys)
c.6030G>C (p.Trp2010Cys)
c.6000G>C (p.Trp2000Cys)
c.5997G>C (p.Trp1999Cys)
c.5949G>C (p.Trp1983Cys)
c.5913G>C (p.Trp1971Cys)
c.5910G>C (p.Trp1970Cys)
c.5865G>C (p.Trp1955Cys)
n.6530G>C
Xg.77574345C>TCA413701260ATRXc.6231G>A (p.Trp2077Ter)
n.66G>A
c.1329G>A (p.Trp443Ter)
c.6117G>A (p.Trp2039Ter)
c.*5859G>A (n.*5859G>A)
c.715G>A
n.3301G>A
c.6228G>A (p.Trp2076Ter)
c.6144G>A (p.Trp2048Ter)
c.6114G>A (p.Trp2038Ter)
c.6066G>A (p.Trp2022Ter)
c.6027G>A (p.Trp2009Ter)
c.5952G>A (p.Trp1984Ter)
n.6573G>A
c.6141G>A (p.Trp2047Ter)
c.6111G>A (p.Trp2037Ter)
c.6063G>A (p.Trp2021Ter)
c.6030G>A (p.Trp2010Ter)
c.6000G>A (p.Trp2000Ter)
c.5997G>A (p.Trp1999Ter)
c.5949G>A (p.Trp1983Ter)
c.5913G>A (p.Trp1971Ter)
c.5910G>A (p.Trp1970Ter)
c.5865G>A (p.Trp1955Ter)
n.6530G>A
Xg.77574346C>ACA413701262ATRXc.6230G>T (p.Trp2077Leu)
n.65G>T
c.1328G>T (p.Trp443Leu)
c.6116G>T (p.Trp2039Leu)
c.*5858G>T (n.*5858G>T)
c.714G>T
n.3300G>T
c.6227G>T (p.Trp2076Leu)
c.6143G>T (p.Trp2048Leu)
c.6113G>T (p.Trp2038Leu)
c.6065G>T (p.Trp2022Leu)
c.6026G>T (p.Trp2009Leu)
c.5951G>T (p.Trp1984Leu)
n.6572G>T
c.6140G>T (p.Trp2047Leu)
c.6110G>T (p.Trp2037Leu)
c.6062G>T (p.Trp2021Leu)
c.6029G>T (p.Trp2010Leu)
c.5999G>T (p.Trp2000Leu)
c.5996G>T (p.Trp1999Leu)
c.5948G>T (p.Trp1983Leu)
c.5912G>T (p.Trp1971Leu)
c.5909G>T (p.Trp1970Leu)
c.5864G>T (p.Trp1955Leu)
n.6529G>T
Xg.77574346C>GCA413701263ATRXc.6230G>C (p.Trp2077Ser)
n.65G>C
c.1328G>C (p.Trp443Ser)
c.6116G>C (p.Trp2039Ser)
c.*5858G>C (n.*5858G>C)
c.714G>C
n.3300G>C
c.6227G>C (p.Trp2076Ser)
c.6143G>C (p.Trp2048Ser)
c.6113G>C (p.Trp2038Ser)
c.6065G>C (p.Trp2022Ser)
c.6026G>C (p.Trp2009Ser)
c.5951G>C (p.Trp1984Ser)
n.6572G>C
c.6140G>C (p.Trp2047Ser)
c.6110G>C (p.Trp2037Ser)
c.6062G>C (p.Trp2021Ser)
c.6029G>C (p.Trp2010Ser)
c.5999G>C (p.Trp2000Ser)
c.5996G>C (p.Trp1999Ser)
c.5948G>C (p.Trp1983Ser)
c.5912G>C (p.Trp1971Ser)
c.5909G>C (p.Trp1970Ser)
c.5864G>C (p.Trp1955Ser)
n.6529G>C
Xg.77574346C>TCA413701264ATRXc.6230G>A (p.Trp2077Ter)
n.65G>A
c.1328G>A (p.Trp443Ter)
c.6116G>A (p.Trp2039Ter)
c.*5858G>A (n.*5858G>A)
c.714G>A
n.3300G>A
c.6227G>A (p.Trp2076Ter)
c.6143G>A (p.Trp2048Ter)
c.6113G>A (p.Trp2038Ter)
c.6065G>A (p.Trp2022Ter)
c.6026G>A (p.Trp2009Ter)
c.5951G>A (p.Trp1984Ter)
n.6572G>A
c.6140G>A (p.Trp2047Ter)
c.6110G>A (p.Trp2037Ter)
c.6062G>A (p.Trp2021Ter)
c.6029G>A (p.Trp2010Ter)
c.5999G>A (p.Trp2000Ter)
c.5996G>A (p.Trp1999Ter)
c.5948G>A (p.Trp1983Ter)
c.5912G>A (p.Trp1971Ter)
c.5909G>A (p.Trp1970Ter)
c.5864G>A (p.Trp1955Ter)
n.6529G>A
Xg.77574347A>CCA413701265ATRXc.6229T>G (p.Trp2077Gly)
n.64T>G
c.1327T>G (p.Trp443Gly)
c.6115T>G (p.Trp2039Gly)
c.*5857T>G (n.*5857T>G)
c.713T>G
n.3299T>G
c.6226T>G (p.Trp2076Gly)
c.6142T>G (p.Trp2048Gly)
c.6112T>G (p.Trp2038Gly)
c.6064T>G (p.Trp2022Gly)
c.6025T>G (p.Trp2009Gly)
c.5950T>G (p.Trp1984Gly)
n.6571T>G
c.6139T>G (p.Trp2047Gly)
c.6109T>G (p.Trp2037Gly)
c.6061T>G (p.Trp2021Gly)
c.6028T>G (p.Trp2010Gly)
c.5998T>G (p.Trp2000Gly)
c.5995T>G (p.Trp1999Gly)
c.5947T>G (p.Trp1983Gly)
c.5911T>G (p.Trp1971Gly)
c.5908T>G (p.Trp1970Gly)
c.5863T>G (p.Trp1955Gly)
n.6528T>G
Xg.77574347A>GCA413701266ATRXc.6229T>C (p.Trp2077Arg)
n.64T>C
c.1327T>C (p.Trp443Arg)
c.6115T>C (p.Trp2039Arg)
c.*5857T>C (n.*5857T>C)
c.713T>C
n.3299T>C
c.6226T>C (p.Trp2076Arg)
c.6142T>C (p.Trp2048Arg)
c.6112T>C (p.Trp2038Arg)
c.6064T>C (p.Trp2022Arg)
c.6025T>C (p.Trp2009Arg)
c.5950T>C (p.Trp1984Arg)
n.6571T>C
c.6139T>C (p.Trp2047Arg)
c.6109T>C (p.Trp2037Arg)
c.6061T>C (p.Trp2021Arg)
c.6028T>C (p.Trp2010Arg)
c.5998T>C (p.Trp2000Arg)
c.5995T>C (p.Trp1999Arg)
c.5947T>C (p.Trp1983Arg)
c.5911T>C (p.Trp1971Arg)
c.5908T>C (p.Trp1970Arg)
c.5863T>C (p.Trp1955Arg)
n.6528T>C
Xg.77574347A>TCA413701267ATRXc.6229T>A (p.Trp2077Arg)
n.64T>A
c.1327T>A (p.Trp443Arg)
c.6115T>A (p.Trp2039Arg)
c.*5857T>A (n.*5857T>A)
c.713T>A
n.3299T>A
c.6226T>A (p.Trp2076Arg)
c.6142T>A (p.Trp2048Arg)
c.6112T>A (p.Trp2038Arg)
c.6064T>A (p.Trp2022Arg)
c.6025T>A (p.Trp2009Arg)
c.5950T>A (p.Trp1984Arg)
n.6571T>A
c.6139T>A (p.Trp2047Arg)
c.6109T>A (p.Trp2037Arg)
c.6061T>A (p.Trp2021Arg)
c.6028T>A (p.Trp2010Arg)
c.5998T>A (p.Trp2000Arg)
c.5995T>A (p.Trp1999Arg)
c.5947T>A (p.Trp1983Arg)
c.5911T>A (p.Trp1971Arg)
c.5908T>A (p.Trp1970Arg)
c.5863T>A (p.Trp1955Arg)
n.6528T>A
Xg.77574348C>ACA413701268ATRXc.6228G>T (p.Lys2076Asn)
n.63G>T
c.1326G>T (p.Lys442Asn)
c.6114G>T (p.Lys2038Asn)
c.*5856G>T (n.*5856G>T)
c.712G>T
n.3298G>T
c.6225G>T (p.Lys2075Asn)
c.6141G>T (p.Lys2047Asn)
c.6111G>T (p.Lys2037Asn)
c.6063G>T (p.Lys2021Asn)
c.6024G>T (p.Lys2008Asn)
c.5949G>T (p.Lys1983Asn)
n.6570G>T
c.6138G>T (p.Lys2046Asn)
c.6108G>T (p.Lys2036Asn)
c.6060G>T (p.Lys2020Asn)
c.6027G>T (p.Lys2009Asn)
c.5997G>T (p.Lys1999Asn)
c.5994G>T (p.Lys1998Asn)
c.5946G>T (p.Lys1982Asn)
c.5910G>T (p.Lys1970Asn)
c.5907G>T (p.Lys1969Asn)
c.5862G>T (p.Lys1954Asn)
n.6527G>T
Xg.77574348C>GCA413701269ATRXc.6228G>C (p.Lys2076Asn)
n.63G>C
c.1326G>C (p.Lys442Asn)
c.6114G>C (p.Lys2038Asn)
c.*5856G>C (n.*5856G>C)
c.712G>C
n.3298G>C
c.6225G>C (p.Lys2075Asn)
c.6141G>C (p.Lys2047Asn)
c.6111G>C (p.Lys2037Asn)
c.6063G>C (p.Lys2021Asn)
c.6024G>C (p.Lys2008Asn)
c.5949G>C (p.Lys1983Asn)
n.6570G>C
c.6138G>C (p.Lys2046Asn)
c.6108G>C (p.Lys2036Asn)
c.6060G>C (p.Lys2020Asn)
c.6027G>C (p.Lys2009Asn)
c.5997G>C (p.Lys1999Asn)
c.5994G>C (p.Lys1998Asn)
c.5946G>C (p.Lys1982Asn)
c.5910G>C (p.Lys1970Asn)
c.5907G>C (p.Lys1969Asn)
c.5862G>C (p.Lys1954Asn)
n.6527G>C
Xg.77574348C>TCA517374837ATRXc.6228G>A (p.Lys2076=)
n.63G>A
c.1326G>A (p.Lys442=)
c.6114G>A (p.Lys2038=)
c.*5856G>A (n.*5856G>A)
c.712G>A
n.3298G>A
c.6225G>A (p.Lys2075=)
c.6141G>A (p.Lys2047=)
c.6111G>A (p.Lys2037=)
c.6063G>A (p.Lys2021=)
c.6024G>A (p.Lys2008=)
c.5949G>A (p.Lys1983=)
n.6570G>A
c.6138G>A (p.Lys2046=)
c.6108G>A (p.Lys2036=)
c.6060G>A (p.Lys2020=)
c.6027G>A (p.Lys2009=)
c.5997G>A (p.Lys1999=)
c.5994G>A (p.Lys1998=)
c.5946G>A (p.Lys1982=)
c.5910G>A (p.Lys1970=)
c.5907G>A (p.Lys1969=)
c.5862G>A (p.Lys1954=)
n.6527G>A
Xg.77574349T>ACA413701270ATRXc.6227A>T (p.Lys2076Met)
n.62A>T
c.1325A>T (p.Lys442Met)
c.6113A>T (p.Lys2038Met)
c.*5855A>T (n.*5855A>T)
c.711A>T
n.3297A>T
c.6224A>T (p.Lys2075Met)
c.6140A>T (p.Lys2047Met)
c.6110A>T (p.Lys2037Met)
c.6062A>T (p.Lys2021Met)
c.6023A>T (p.Lys2008Met)
c.5948A>T (p.Lys1983Met)
n.6569A>T
c.6137A>T (p.Lys2046Met)
c.6107A>T (p.Lys2036Met)
c.6059A>T (p.Lys2020Met)
c.6026A>T (p.Lys2009Met)
c.5996A>T (p.Lys1999Met)
c.5993A>T (p.Lys1998Met)
c.5945A>T (p.Lys1982Met)
c.5909A>T (p.Lys1970Met)
c.5906A>T (p.Lys1969Met)
c.5861A>T (p.Lys1954Met)
n.6526A>T
Xg.77574349T>CCA413701271ATRXc.6227A>G (p.Lys2076Arg)
n.62A>G
c.1325A>G (p.Lys442Arg)
c.6113A>G (p.Lys2038Arg)
c.*5855A>G (n.*5855A>G)
c.711A>G
n.3297A>G
c.6224A>G (p.Lys2075Arg)
c.6140A>G (p.Lys2047Arg)
c.6110A>G (p.Lys2037Arg)
c.6062A>G (p.Lys2021Arg)
c.6023A>G (p.Lys2008Arg)
c.5948A>G (p.Lys1983Arg)
n.6569A>G
c.6137A>G (p.Lys2046Arg)
c.6107A>G (p.Lys2036Arg)
c.6059A>G (p.Lys2020Arg)
c.6026A>G (p.Lys2009Arg)
c.5996A>G (p.Lys1999Arg)
c.5993A>G (p.Lys1998Arg)
c.5945A>G (p.Lys1982Arg)
c.5909A>G (p.Lys1970Arg)
c.5906A>G (p.Lys1969Arg)
c.5861A>G (p.Lys1954Arg)
n.6526A>G
 dbSNP gnomAD v4
Xg.77574349T>GCA413701272ATRXc.6227A>C (p.Lys2076Thr)
n.62A>C
c.1325A>C (p.Lys442Thr)
c.6113A>C (p.Lys2038Thr)
c.*5855A>C (n.*5855A>C)
c.711A>C
n.3297A>C
c.6224A>C (p.Lys2075Thr)
c.6140A>C (p.Lys2047Thr)
c.6110A>C (p.Lys2037Thr)
c.6062A>C (p.Lys2021Thr)
c.6023A>C (p.Lys2008Thr)
c.5948A>C (p.Lys1983Thr)
n.6569A>C
c.6137A>C (p.Lys2046Thr)
c.6107A>C (p.Lys2036Thr)
c.6059A>C (p.Lys2020Thr)
c.6026A>C (p.Lys2009Thr)
c.5996A>C (p.Lys1999Thr)
c.5993A>C (p.Lys1998Thr)
c.5945A>C (p.Lys1982Thr)
c.5909A>C (p.Lys1970Thr)
c.5906A>C (p.Lys1969Thr)
c.5861A>C (p.Lys1954Thr)
n.6526A>C
 ClinVar
Xg.77574349T=CA2438951405ATRXc.6227A= (p.Lys2076=)
n.62A=
c.1325A= (p.Lys442=)
c.6113A= (p.Lys2038=)
c.*5855A= (n.*5855A=)
c.711A=
n.3297A=
c.6224A= (p.Lys2075=)
c.6140A= (p.Lys2047=)
c.6110A= (p.Lys2037=)
c.6062A= (p.Lys2021=)
c.6023A= (p.Lys2008=)
c.5948A= (p.Lys1983=)
n.6569A=
c.6137A= (p.Lys2046=)
c.6107A= (p.Lys2036=)
c.6059A= (p.Lys2020=)
c.6026A= (p.Lys2009=)
c.5996A= (p.Lys1999=)
c.5993A= (p.Lys1998=)
c.5945A= (p.Lys1982=)
c.5909A= (p.Lys1970=)
c.5906A= (p.Lys1969=)
c.5861A= (p.Lys1954=)
n.6526A=
Xg.77574350T>ACA413701279ATRXc.6226A>T (p.Lys2076Ter)
n.61A>T
c.1324A>T (p.Lys442Ter)
c.6112A>T (p.Lys2038Ter)
c.*5854A>T (n.*5854A>T)
c.710A>T
n.3296A>T
c.6223A>T (p.Lys2075Ter)
c.6139A>T (p.Lys2047Ter)
c.6109A>T (p.Lys2037Ter)
c.6061A>T (p.Lys2021Ter)
c.6022A>T (p.Lys2008Ter)
c.5947A>T (p.Lys1983Ter)
n.6568A>T
c.6136A>T (p.Lys2046Ter)
c.6106A>T (p.Lys2036Ter)
c.6058A>T (p.Lys2020Ter)
c.6025A>T (p.Lys2009Ter)
c.5995A>T (p.Lys1999Ter)
c.5992A>T (p.Lys1998Ter)
c.5944A>T (p.Lys1982Ter)
c.5908A>T (p.Lys1970Ter)
c.5905A>T (p.Lys1969Ter)
c.5860A>T (p.Lys1954Ter)
n.6525A>T
 COSMIC
Xg.77574350T>CCA413701277ATRXc.6226A>G (p.Lys2076Glu)
n.61A>G
c.1324A>G (p.Lys442Glu)
c.6112A>G (p.Lys2038Glu)
c.*5854A>G (n.*5854A>G)
c.710A>G
n.3296A>G
c.6223A>G (p.Lys2075Glu)
c.6139A>G (p.Lys2047Glu)
c.6109A>G (p.Lys2037Glu)
c.6061A>G (p.Lys2021Glu)
c.6022A>G (p.Lys2008Glu)
c.5947A>G (p.Lys1983Glu)
n.6568A>G
c.6136A>G (p.Lys2046Glu)
c.6106A>G (p.Lys2036Glu)
c.6058A>G (p.Lys2020Glu)
c.6025A>G (p.Lys2009Glu)
c.5995A>G (p.Lys1999Glu)
c.5992A>G (p.Lys1998Glu)
c.5944A>G (p.Lys1982Glu)
c.5908A>G (p.Lys1970Glu)
c.5905A>G (p.Lys1969Glu)
c.5860A>G (p.Lys1954Glu)
n.6525A>G
Xg.77574350T>GCA413701276ATRXc.6226A>C (p.Lys2076Gln)
n.61A>C
c.1324A>C (p.Lys442Gln)
c.6112A>C (p.Lys2038Gln)
c.*5854A>C (n.*5854A>C)
c.710A>C
n.3296A>C
c.6223A>C (p.Lys2075Gln)
c.6139A>C (p.Lys2047Gln)
c.6109A>C (p.Lys2037Gln)
c.6061A>C (p.Lys2021Gln)
c.6022A>C (p.Lys2008Gln)
c.5947A>C (p.Lys1983Gln)
n.6568A>C
c.6136A>C (p.Lys2046Gln)
c.6106A>C (p.Lys2036Gln)
c.6058A>C (p.Lys2020Gln)
c.6025A>C (p.Lys2009Gln)
c.5995A>C (p.Lys1999Gln)
c.5992A>C (p.Lys1998Gln)
c.5944A>C (p.Lys1982Gln)
c.5908A>C (p.Lys1970Gln)
c.5905A>C (p.Lys1969Gln)
c.5860A>C (p.Lys1954Gln)
n.6525A>C
Xg.77574351C>ACA517374840ATRXc.6225G>T (p.Gly2075=)
n.60G>T
c.1323G>T (p.Gly441=)
c.6111G>T (p.Gly2037=)
c.*5853G>T (n.*5853G>T)
c.709G>T
n.3295G>T
c.6222G>T (p.Gly2074=)
c.6138G>T (p.Gly2046=)
c.6108G>T (p.Gly2036=)
c.6060G>T (p.Gly2020=)
c.6021G>T (p.Gly2007=)
c.5946G>T (p.Gly1982=)
n.6567G>T
c.6135G>T (p.Gly2045=)
c.6105G>T (p.Gly2035=)
c.6057G>T (p.Gly2019=)
c.6024G>T (p.Gly2008=)
c.5994G>T (p.Gly1998=)
c.5991G>T (p.Gly1997=)
c.5943G>T (p.Gly1981=)
c.5907G>T (p.Gly1969=)
c.5904G>T (p.Gly1968=)
c.5859G>T (p.Gly1953=)
n.6524G>T
Xg.77574351C>GCA517374841ATRXc.6225G>C (p.Gly2075=)
n.60G>C
c.1323G>C (p.Gly441=)
c.6111G>C (p.Gly2037=)
c.*5853G>C (n.*5853G>C)
c.709G>C
n.3295G>C
c.6222G>C (p.Gly2074=)
c.6138G>C (p.Gly2046=)
c.6108G>C (p.Gly2036=)
c.6060G>C (p.Gly2020=)
c.6021G>C (p.Gly2007=)
c.5946G>C (p.Gly1982=)
n.6567G>C
c.6135G>C (p.Gly2045=)
c.6105G>C (p.Gly2035=)
c.6057G>C (p.Gly2019=)
c.6024G>C (p.Gly2008=)
c.5994G>C (p.Gly1998=)
c.5991G>C (p.Gly1997=)
c.5943G>C (p.Gly1981=)
c.5907G>C (p.Gly1969=)
c.5904G>C (p.Gly1968=)
c.5859G>C (p.Gly1953=)
n.6524G>C
 gnomAD v4
Xg.77574351C>TCA517374842ATRXc.6225G>A (p.Gly2075=)
n.60G>A
c.1323G>A (p.Gly441=)
c.6111G>A (p.Gly2037=)
c.*5853G>A (n.*5853G>A)
c.709G>A
n.3295G>A
c.6222G>A (p.Gly2074=)
c.6138G>A (p.Gly2046=)
c.6108G>A (p.Gly2036=)
c.6060G>A (p.Gly2020=)
c.6021G>A (p.Gly2007=)
c.5946G>A (p.Gly1982=)
n.6567G>A
c.6135G>A (p.Gly2045=)
c.6105G>A (p.Gly2035=)
c.6057G>A (p.Gly2019=)
c.6024G>A (p.Gly2008=)
c.5994G>A (p.Gly1998=)
c.5991G>A (p.Gly1997=)
c.5943G>A (p.Gly1981=)
c.5907G>A (p.Gly1969=)
c.5904G>A (p.Gly1968=)
c.5859G>A (p.Gly1953=)
n.6524G>A
 gnomAD v4 COSMIC COSMIC
Xg.77574352C>ACA413701282ATRXc.6224G>T (p.Gly2075Val)
n.59G>T
c.1322G>T (p.Gly441Val)
c.6110G>T (p.Gly2037Val)
c.*5852G>T (n.*5852G>T)
c.708G>T
n.3294G>T
c.6221G>T (p.Gly2074Val)
c.6137G>T (p.Gly2046Val)
c.6107G>T (p.Gly2036Val)
c.6059G>T (p.Gly2020Val)
c.6020G>T (p.Gly2007Val)
c.5945G>T (p.Gly1982Val)
n.6566G>T
c.6134G>T (p.Gly2045Val)
c.6104G>T (p.Gly2035Val)
c.6056G>T (p.Gly2019Val)
c.6023G>T (p.Gly2008Val)
c.5993G>T (p.Gly1998Val)
c.5990G>T (p.Gly1997Val)
c.5942G>T (p.Gly1981Val)
c.5906G>T (p.Gly1969Val)
c.5903G>T (p.Gly1968Val)
c.5858G>T (p.Gly1953Val)
n.6523G>T
Xg.77574352C>GCA413701283ATRXc.6224G>C (p.Gly2075Ala)
n.59G>C
c.1322G>C (p.Gly441Ala)
c.6110G>C (p.Gly2037Ala)
c.*5852G>C (n.*5852G>C)
c.708G>C
n.3294G>C
c.6221G>C (p.Gly2074Ala)
c.6137G>C (p.Gly2046Ala)
c.6107G>C (p.Gly2036Ala)
c.6059G>C (p.Gly2020Ala)
c.6020G>C (p.Gly2007Ala)
c.5945G>C (p.Gly1982Ala)
n.6566G>C
c.6134G>C (p.Gly2045Ala)
c.6104G>C (p.Gly2035Ala)
c.6056G>C (p.Gly2019Ala)
c.6023G>C (p.Gly2008Ala)
c.5993G>C (p.Gly1998Ala)
c.5990G>C (p.Gly1997Ala)
c.5942G>C (p.Gly1981Ala)
c.5906G>C (p.Gly1969Ala)
c.5903G>C (p.Gly1968Ala)
c.5858G>C (p.Gly1953Ala)
n.6523G>C
Xg.77574352C>TCA413701285ATRXc.6224G>A (p.Gly2075Glu)
n.59G>A
c.1322G>A (p.Gly441Glu)
c.6110G>A (p.Gly2037Glu)
c.*5852G>A (n.*5852G>A)
c.708G>A
n.3294G>A
c.6221G>A (p.Gly2074Glu)
c.6137G>A (p.Gly2046Glu)
c.6107G>A (p.Gly2036Glu)
c.6059G>A (p.Gly2020Glu)
c.6020G>A (p.Gly2007Glu)
c.5945G>A (p.Gly1982Glu)
n.6566G>A
c.6134G>A (p.Gly2045Glu)
c.6104G>A (p.Gly2035Glu)
c.6056G>A (p.Gly2019Glu)
c.6023G>A (p.Gly2008Glu)
c.5993G>A (p.Gly1998Glu)
c.5990G>A (p.Gly1997Glu)
c.5942G>A (p.Gly1981Glu)
c.5906G>A (p.Gly1969Glu)
c.5903G>A (p.Gly1968Glu)
c.5858G>A (p.Gly1953Glu)
n.6523G>A
 COSMIC
Xg.77574353C>ACA413701288ATRXc.6223G>T (p.Gly2075Trp)
n.58G>T
c.1321G>T (p.Gly441Trp)
c.6109G>T (p.Gly2037Trp)
c.*5851G>T (n.*5851G>T)
c.707G>T
n.3293G>T
c.6220G>T (p.Gly2074Trp)
c.6136G>T (p.Gly2046Trp)
c.6106G>T (p.Gly2036Trp)
c.6058G>T (p.Gly2020Trp)
c.6019G>T (p.Gly2007Trp)
c.5944G>T (p.Gly1982Trp)
n.6565G>T
c.6133G>T (p.Gly2045Trp)
c.6103G>T (p.Gly2035Trp)
c.6055G>T (p.Gly2019Trp)
c.6022G>T (p.Gly2008Trp)
c.5992G>T (p.Gly1998Trp)
c.5989G>T (p.Gly1997Trp)
c.5941G>T (p.Gly1981Trp)
c.5905G>T (p.Gly1969Trp)
c.5902G>T (p.Gly1968Trp)
c.5857G>T (p.Gly1953Trp)
n.6522G>T
Xg.77574353C=CA2438951406ATRXc.6223G= (p.Gly2075=)
n.58G=
c.1321G= (p.Gly441=)
c.6109G= (p.Gly2037=)
c.*5851G= (n.*5851G=)
c.707G=
n.3293G=
c.6220G= (p.Gly2074=)
c.6136G= (p.Gly2046=)
c.6106G= (p.Gly2036=)
c.6058G= (p.Gly2020=)
c.6019G= (p.Gly2007=)
c.5944G= (p.Gly1982=)
n.6565G=
c.6133G= (p.Gly2045=)
c.6103G= (p.Gly2035=)
c.6055G= (p.Gly2019=)
c.6022G= (p.Gly2008=)
c.5992G= (p.Gly1998=)
c.5989G= (p.Gly1997=)
c.5941G= (p.Gly1981=)
c.5905G= (p.Gly1969=)
c.5902G= (p.Gly1968=)
c.5857G= (p.Gly1953=)
n.6522G=
Xg.77574353C>GCA413701290ATRXc.6223G>C (p.Gly2075Arg)
n.58G>C
c.1321G>C (p.Gly441Arg)
c.6109G>C (p.Gly2037Arg)
c.*5851G>C (n.*5851G>C)
c.707G>C
n.3293G>C
c.6220G>C (p.Gly2074Arg)
c.6136G>C (p.Gly2046Arg)
c.6106G>C (p.Gly2036Arg)
c.6058G>C (p.Gly2020Arg)
c.6019G>C (p.Gly2007Arg)
c.5944G>C (p.Gly1982Arg)
n.6565G>C
c.6133G>C (p.Gly2045Arg)
c.6103G>C (p.Gly2035Arg)
c.6055G>C (p.Gly2019Arg)
c.6022G>C (p.Gly2008Arg)
c.5992G>C (p.Gly1998Arg)
c.5989G>C (p.Gly1997Arg)
c.5941G>C (p.Gly1981Arg)
c.5905G>C (p.Gly1969Arg)
c.5902G>C (p.Gly1968Arg)
c.5857G>C (p.Gly1953Arg)
n.6522G>C
Xg.77574353C>TCA413701292ATRXc.6223G>A (p.Gly2075Arg)
n.58G>A
c.1321G>A (p.Gly441Arg)
c.6109G>A (p.Gly2037Arg)
c.*5851G>A (n.*5851G>A)
c.707G>A
n.3293G>A
c.6220G>A (p.Gly2074Arg)
c.6136G>A (p.Gly2046Arg)
c.6106G>A (p.Gly2036Arg)
c.6058G>A (p.Gly2020Arg)
c.6019G>A (p.Gly2007Arg)
c.5944G>A (p.Gly1982Arg)
n.6565G>A
c.6133G>A (p.Gly2045Arg)
c.6103G>A (p.Gly2035Arg)
c.6055G>A (p.Gly2019Arg)
c.6022G>A (p.Gly2008Arg)
c.5992G>A (p.Gly1998Arg)
c.5989G>A (p.Gly1997Arg)
c.5941G>A (p.Gly1981Arg)
c.5905G>A (p.Gly1969Arg)
c.5902G>A (p.Gly1968Arg)
c.5857G>A (p.Gly1953Arg)
n.6522G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.77574354C>ACA413701293ATRXc.6222G>T (p.Glu2074Asp)
n.57G>T
c.1320G>T (p.Glu440Asp)
c.6108G>T (p.Glu2036Asp)
c.*5850G>T (n.*5850G>T)
c.706G>T
n.3292G>T
c.6219G>T (p.Glu2073Asp)
c.6135G>T (p.Glu2045Asp)
c.6105G>T (p.Glu2035Asp)
c.6057G>T (p.Glu2019Asp)
c.6018G>T (p.Glu2006Asp)
c.5943G>T (p.Glu1981Asp)
n.6564G>T
c.6132G>T (p.Glu2044Asp)
c.6102G>T (p.Glu2034Asp)
c.6054G>T (p.Glu2018Asp)
c.6021G>T (p.Glu2007Asp)
c.5991G>T (p.Glu1997Asp)
c.5988G>T (p.Glu1996Asp)
c.5940G>T (p.Glu1980Asp)
c.5904G>T (p.Glu1968Asp)
c.5901G>T (p.Glu1967Asp)
c.5856G>T (p.Glu1952Asp)
n.6521G>T
Xg.77574354C=CA2438951407ATRXc.6222G= (p.Glu2074=)
n.57G=
c.1320G= (p.Glu440=)
c.6108G= (p.Glu2036=)
c.*5850G= (n.*5850G=)
c.706G=
n.3292G=
c.6219G= (p.Glu2073=)
c.6135G= (p.Glu2045=)
c.6105G= (p.Glu2035=)
c.6057G= (p.Glu2019=)
c.6018G= (p.Glu2006=)
c.5943G= (p.Glu1981=)
n.6564G=
c.6132G= (p.Glu2044=)
c.6102G= (p.Glu2034=)
c.6054G= (p.Glu2018=)
c.6021G= (p.Glu2007=)
c.5991G= (p.Glu1997=)
c.5988G= (p.Glu1996=)
c.5940G= (p.Glu1980=)
c.5904G= (p.Glu1968=)
c.5901G= (p.Glu1967=)
c.5856G= (p.Glu1952=)
n.6521G=
Xg.77574354C>GCA413701294ATRXc.6222G>C (p.Glu2074Asp)
n.57G>C
c.1320G>C (p.Glu440Asp)
c.6108G>C (p.Glu2036Asp)
c.*5850G>C (n.*5850G>C)
c.706G>C
n.3292G>C
c.6219G>C (p.Glu2073Asp)
c.6135G>C (p.Glu2045Asp)
c.6105G>C (p.Glu2035Asp)
c.6057G>C (p.Glu2019Asp)
c.6018G>C (p.Glu2006Asp)
c.5943G>C (p.Glu1981Asp)
n.6564G>C
c.6132G>C (p.Glu2044Asp)
c.6102G>C (p.Glu2034Asp)
c.6054G>C (p.Glu2018Asp)
c.6021G>C (p.Glu2007Asp)
c.5991G>C (p.Glu1997Asp)
c.5988G>C (p.Glu1996Asp)
c.5940G>C (p.Glu1980Asp)
c.5904G>C (p.Glu1968Asp)
c.5901G>C (p.Glu1967Asp)
c.5856G>C (p.Glu1952Asp)
n.6521G>C
Xg.77574354C>TCA10457522ATRXc.6222G>A (p.Glu2074=)
n.57G>A
c.1320G>A (p.Glu440=)
c.6108G>A (p.Glu2036=)
c.*5850G>A (n.*5850G>A)
c.706G>A
n.3292G>A
c.6219G>A (p.Glu2073=)
c.6135G>A (p.Glu2045=)
c.6105G>A (p.Glu2035=)
c.6057G>A (p.Glu2019=)
c.6018G>A (p.Glu2006=)
c.5943G>A (p.Glu1981=)
n.6564G>A
c.6132G>A (p.Glu2044=)
c.6102G>A (p.Glu2034=)
c.6054G>A (p.Glu2018=)
c.6021G>A (p.Glu2007=)
c.5991G>A (p.Glu1997=)
c.5988G>A (p.Glu1996=)
c.5940G>A (p.Glu1980=)
c.5904G>A (p.Glu1968=)
c.5901G>A (p.Glu1967=)
c.5856G>A (p.Glu1952=)
n.6521G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77574354_77574355insACCACCCCAAACACACCCACA2821944083ATRXc.6221_6222insTGGGTGTGTTTGGGGTGGT (p.Glu2074AspfsTer15)
n.56_57insTGGGTGTGTTTGGGGTGGT
c.1319_1320insTGGGTGTGTTTGGGGTGGT (p.Glu440AspfsTer15)
c.6107_6108insTGGGTGTGTTTGGGGTGGT (p.Glu2036AspfsTer15)
c.*5849_*5850insTGGGTGTGTTTGGGGTGGT (n.*5849_*5850insTGGGTGTGTTTGGGGTGGT)
c.705_706insTGGGTGTGTTTGGGGTGGT
n.3291_3292insTGGGTGTGTTTGGGGTGGT
c.6218_6219insTGGGTGTGTTTGGGGTGGT (p.Glu2073AspfsTer15)
c.6134_6135insTGGGTGTGTTTGGGGTGGT (p.Glu2045AspfsTer15)
c.6104_6105insTGGGTGTGTTTGGGGTGGT (p.Glu2035AspfsTer15)
c.6056_6057insTGGGTGTGTTTGGGGTGGT (p.Glu2019AspfsTer15)
c.6017_6018insTGGGTGTGTTTGGGGTGGT (p.Glu2006AspfsTer15)
c.5942_5943insTGGGTGTGTTTGGGGTGGT (p.Glu1981AspfsTer15)
n.6563_6564insTGGGTGTGTTTGGGGTGGT
c.6131_6132insTGGGTGTGTTTGGGGTGGT (p.Glu2044AspfsTer15)
c.6101_6102insTGGGTGTGTTTGGGGTGGT (p.Glu2034AspfsTer15)
c.6053_6054insTGGGTGTGTTTGGGGTGGT (p.Glu2018AspfsTer15)
c.6020_6021insTGGGTGTGTTTGGGGTGGT (p.Glu2007AspfsTer15)
c.5990_5991insTGGGTGTGTTTGGGGTGGT (p.Glu1997AspfsTer15)
c.5987_5988insTGGGTGTGTTTGGGGTGGT (p.Glu1996AspfsTer15)
c.5939_5940insTGGGTGTGTTTGGGGTGGT (p.Glu1980AspfsTer15)
c.5903_5904insTGGGTGTGTTTGGGGTGGT (p.Glu1968AspfsTer15)
c.5900_5901insTGGGTGTGTTTGGGGTGGT (p.Glu1967AspfsTer15)
c.5855_5856insTGGGTGTGTTTGGGGTGGT (p.Glu1952AspfsTer15)
n.6520_6521insTGGGTGTGTTTGGGGTGGT
Xg.77574355T>ACA413701295ATRXc.6221A>T (p.Glu2074Val)
n.56A>T
c.1319A>T (p.Glu440Val)
c.6107A>T (p.Glu2036Val)
c.*5849A>T (n.*5849A>T)
c.705A>T
n.3291A>T
c.6218A>T (p.Glu2073Val)
c.6134A>T (p.Glu2045Val)
c.6104A>T (p.Glu2035Val)
c.6056A>T (p.Glu2019Val)
c.6017A>T (p.Glu2006Val)
c.5942A>T (p.Glu1981Val)
n.6563A>T
c.6131A>T (p.Glu2044Val)
c.6101A>T (p.Glu2034Val)
c.6053A>T (p.Glu2018Val)
c.6020A>T (p.Glu2007Val)
c.5990A>T (p.Glu1997Val)
c.5987A>T (p.Glu1996Val)
c.5939A>T (p.Glu1980Val)
c.5903A>T (p.Glu1968Val)
c.5900A>T (p.Glu1967Val)
c.5855A>T (p.Glu1952Val)
n.6520A>T
Xg.77574355T>CCA413701296ATRXc.6221A>G (p.Glu2074Gly)
n.56A>G
c.1319A>G (p.Glu440Gly)
c.6107A>G (p.Glu2036Gly)
c.*5849A>G (n.*5849A>G)
c.705A>G
n.3291A>G
c.6218A>G (p.Glu2073Gly)
c.6134A>G (p.Glu2045Gly)
c.6104A>G (p.Glu2035Gly)
c.6056A>G (p.Glu2019Gly)
c.6017A>G (p.Glu2006Gly)
c.5942A>G (p.Glu1981Gly)
n.6563A>G
c.6131A>G (p.Glu2044Gly)
c.6101A>G (p.Glu2034Gly)
c.6053A>G (p.Glu2018Gly)
c.6020A>G (p.Glu2007Gly)
c.5990A>G (p.Glu1997Gly)
c.5987A>G (p.Glu1996Gly)
c.5939A>G (p.Glu1980Gly)
c.5903A>G (p.Glu1968Gly)
c.5900A>G (p.Glu1967Gly)
c.5855A>G (p.Glu1952Gly)
n.6520A>G
 gnomAD v4
Xg.77574355T>GCA413701298ATRXc.6221A>C (p.Glu2074Ala)
n.56A>C
c.1319A>C (p.Glu440Ala)
c.6107A>C (p.Glu2036Ala)
c.*5849A>C (n.*5849A>C)
c.705A>C
n.3291A>C
c.6218A>C (p.Glu2073Ala)
c.6134A>C (p.Glu2045Ala)
c.6104A>C (p.Glu2035Ala)
c.6056A>C (p.Glu2019Ala)
c.6017A>C (p.Glu2006Ala)
c.5942A>C (p.Glu1981Ala)
n.6563A>C
c.6131A>C (p.Glu2044Ala)
c.6101A>C (p.Glu2034Ala)
c.6053A>C (p.Glu2018Ala)
c.6020A>C (p.Glu2007Ala)
c.5990A>C (p.Glu1997Ala)
c.5987A>C (p.Glu1996Ala)
c.5939A>C (p.Glu1980Ala)
c.5903A>C (p.Glu1968Ala)
c.5900A>C (p.Glu1967Ala)
c.5855A>C (p.Glu1952Ala)
n.6520A>C
Xg.77574356C>ACA413701302ATRXc.6220G>T (p.Glu2074Ter)
n.55G>T
c.1318G>T (p.Glu440Ter)
c.6106G>T (p.Glu2036Ter)
c.*5848G>T (n.*5848G>T)
c.704G>T
n.3290G>T
c.6217G>T (p.Glu2073Ter)
c.6133G>T (p.Glu2045Ter)
c.6103G>T (p.Glu2035Ter)
c.6055G>T (p.Glu2019Ter)
c.6016G>T (p.Glu2006Ter)
c.5941G>T (p.Glu1981Ter)
n.6562G>T
c.6130G>T (p.Glu2044Ter)
c.6100G>T (p.Glu2034Ter)
c.6052G>T (p.Glu2018Ter)
c.6019G>T (p.Glu2007Ter)
c.5989G>T (p.Glu1997Ter)
c.5986G>T (p.Glu1996Ter)
c.5938G>T (p.Glu1980Ter)
c.5902G>T (p.Glu1968Ter)
c.5899G>T (p.Glu1967Ter)
c.5854G>T (p.Glu1952Ter)
n.6519G>T
Xg.77574356C=CA2438951408ATRXc.6220G= (p.Glu2074=)
n.55G=
c.1318G= (p.Glu440=)
c.6106G= (p.Glu2036=)
c.*5848G= (n.*5848G=)
c.704G=
n.3290G=
c.6217G= (p.Glu2073=)
c.6133G= (p.Glu2045=)
c.6103G= (p.Glu2035=)
c.6055G= (p.Glu2019=)
c.6016G= (p.Glu2006=)
c.5941G= (p.Glu1981=)
n.6562G=
c.6130G= (p.Glu2044=)
c.6100G= (p.Glu2034=)
c.6052G= (p.Glu2018=)
c.6019G= (p.Glu2007=)
c.5989G= (p.Glu1997=)
c.5986G= (p.Glu1996=)
c.5938G= (p.Glu1980=)
c.5902G= (p.Glu1968=)
c.5899G= (p.Glu1967=)
c.5854G= (p.Glu1952=)
n.6519G=
Xg.77574356C>GCA413701300ATRXc.6220G>C (p.Glu2074Gln)
n.55G>C
c.1318G>C (p.Glu440Gln)
c.6106G>C (p.Glu2036Gln)
c.*5848G>C (n.*5848G>C)
c.704G>C
n.3290G>C
c.6217G>C (p.Glu2073Gln)
c.6133G>C (p.Glu2045Gln)
c.6103G>C (p.Glu2035Gln)
c.6055G>C (p.Glu2019Gln)
c.6016G>C (p.Glu2006Gln)
c.5941G>C (p.Glu1981Gln)
n.6562G>C
c.6130G>C (p.Glu2044Gln)
c.6100G>C (p.Glu2034Gln)
c.6052G>C (p.Glu2018Gln)
c.6019G>C (p.Glu2007Gln)
c.5989G>C (p.Glu1997Gln)
c.5986G>C (p.Glu1996Gln)
c.5938G>C (p.Glu1980Gln)
c.5902G>C (p.Glu1968Gln)
c.5899G>C (p.Glu1967Gln)
c.5854G>C (p.Glu1952Gln)
n.6519G>C
 dbSNP gnomAD v4
Xg.77574356C>TCA413701299ATRXc.6220G>A (p.Glu2074Lys)
n.55G>A
c.1318G>A (p.Glu440Lys)
c.6106G>A (p.Glu2036Lys)
c.*5848G>A (n.*5848G>A)
c.704G>A
n.3290G>A
c.6217G>A (p.Glu2073Lys)
c.6133G>A (p.Glu2045Lys)
c.6103G>A (p.Glu2035Lys)
c.6055G>A (p.Glu2019Lys)
c.6016G>A (p.Glu2006Lys)
c.5941G>A (p.Glu1981Lys)
n.6562G>A
c.6130G>A (p.Glu2044Lys)
c.6100G>A (p.Glu2034Lys)
c.6052G>A (p.Glu2018Lys)
c.6019G>A (p.Glu2007Lys)
c.5989G>A (p.Glu1997Lys)
c.5986G>A (p.Glu1996Lys)
c.5938G>A (p.Glu1980Lys)
c.5902G>A (p.Glu1968Lys)
c.5899G>A (p.Glu1967Lys)
c.5854G>A (p.Glu1952Lys)
n.6519G>A
 gnomAD v4
Xg.77574357A>CCA517374848ATRXc.6219T>G (p.Gly2073=)
n.54T>G
c.1317T>G (p.Gly439=)
c.6105T>G (p.Gly2035=)
c.*5847T>G (n.*5847T>G)
c.703T>G
n.3289T>G
c.6216T>G (p.Gly2072=)
c.6132T>G (p.Gly2044=)
c.6102T>G (p.Gly2034=)
c.6054T>G (p.Gly2018=)
c.6015T>G (p.Gly2005=)
c.5940T>G (p.Gly1980=)
n.6561T>G
c.6129T>G (p.Gly2043=)
c.6099T>G (p.Gly2033=)
c.6051T>G (p.Gly2017=)
c.6018T>G (p.Gly2006=)
c.5988T>G (p.Gly1996=)
c.5985T>G (p.Gly1995=)
c.5937T>G (p.Gly1979=)
c.5901T>G (p.Gly1967=)
c.5898T>G (p.Gly1966=)
c.5853T>G (p.Gly1951=)
n.6518T>G
Xg.77574357A>GCA517374849ATRXc.6219T>C (p.Gly2073=)
n.54T>C
c.1317T>C (p.Gly439=)
c.6105T>C (p.Gly2035=)
c.*5847T>C (n.*5847T>C)
c.703T>C
n.3289T>C
c.6216T>C (p.Gly2072=)
c.6132T>C (p.Gly2044=)
c.6102T>C (p.Gly2034=)
c.6054T>C (p.Gly2018=)
c.6015T>C (p.Gly2005=)
c.5940T>C (p.Gly1980=)
n.6561T>C
c.6129T>C (p.Gly2043=)
c.6099T>C (p.Gly2033=)
c.6051T>C (p.Gly2017=)
c.6018T>C (p.Gly2006=)
c.5988T>C (p.Gly1996=)
c.5985T>C (p.Gly1995=)
c.5937T>C (p.Gly1979=)
c.5901T>C (p.Gly1967=)
c.5898T>C (p.Gly1966=)
c.5853T>C (p.Gly1951=)
n.6518T>C
Xg.77574357A>TCA517374850ATRXc.6219T>A (p.Gly2073=)
n.54T>A
c.1317T>A (p.Gly439=)
c.6105T>A (p.Gly2035=)
c.*5847T>A (n.*5847T>A)
c.703T>A
n.3289T>A
c.6216T>A (p.Gly2072=)
c.6132T>A (p.Gly2044=)
c.6102T>A (p.Gly2034=)
c.6054T>A (p.Gly2018=)
c.6015T>A (p.Gly2005=)
c.5940T>A (p.Gly1980=)
n.6561T>A
c.6129T>A (p.Gly2043=)
c.6099T>A (p.Gly2033=)
c.6051T>A (p.Gly2017=)
c.6018T>A (p.Gly2006=)
c.5988T>A (p.Gly1996=)
c.5985T>A (p.Gly1995=)
c.5937T>A (p.Gly1979=)
c.5901T>A (p.Gly1967=)
c.5898T>A (p.Gly1966=)
c.5853T>A (p.Gly1951=)
n.6518T>A
Xg.77574358C>ACA413701304ATRXc.6218G>T (p.Gly2073Val)
n.53G>T
c.1316G>T (p.Gly439Val)
c.6104G>T (p.Gly2035Val)
c.*5846G>T (n.*5846G>T)
c.702G>T
n.3288G>T
c.6215G>T (p.Gly2072Val)
c.6131G>T (p.Gly2044Val)
c.6101G>T (p.Gly2034Val)
c.6053G>T (p.Gly2018Val)
c.6014G>T (p.Gly2005Val)
c.5939G>T (p.Gly1980Val)
n.6560G>T
c.6128G>T (p.Gly2043Val)
c.6098G>T (p.Gly2033Val)
c.6050G>T (p.Gly2017Val)
c.6017G>T (p.Gly2006Val)
c.5987G>T (p.Gly1996Val)
c.5984G>T (p.Gly1995Val)
c.5936G>T (p.Gly1979Val)
c.5900G>T (p.Gly1967Val)
c.5897G>T (p.Gly1966Val)
c.5852G>T (p.Gly1951Val)
n.6517G>T
Xg.77574358C>GCA413701306ATRXc.6218G>C (p.Gly2073Ala)
n.53G>C
c.1316G>C (p.Gly439Ala)
c.6104G>C (p.Gly2035Ala)
c.*5846G>C (n.*5846G>C)
c.702G>C
n.3288G>C
c.6215G>C (p.Gly2072Ala)
c.6131G>C (p.Gly2044Ala)
c.6101G>C (p.Gly2034Ala)
c.6053G>C (p.Gly2018Ala)
c.6014G>C (p.Gly2005Ala)
c.5939G>C (p.Gly1980Ala)
n.6560G>C
c.6128G>C (p.Gly2043Ala)
c.6098G>C (p.Gly2033Ala)
c.6050G>C (p.Gly2017Ala)
c.6017G>C (p.Gly2006Ala)
c.5987G>C (p.Gly1996Ala)
c.5984G>C (p.Gly1995Ala)
c.5936G>C (p.Gly1979Ala)
c.5900G>C (p.Gly1967Ala)
c.5897G>C (p.Gly1966Ala)
c.5852G>C (p.Gly1951Ala)
n.6517G>C
Xg.77574358C>TCA413701308ATRXc.6218G>A (p.Gly2073Asp)
n.53G>A
c.1316G>A (p.Gly439Asp)
c.6104G>A (p.Gly2035Asp)
c.*5846G>A (n.*5846G>A)
c.702G>A
n.3288G>A
c.6215G>A (p.Gly2072Asp)
c.6131G>A (p.Gly2044Asp)
c.6101G>A (p.Gly2034Asp)
c.6053G>A (p.Gly2018Asp)
c.6014G>A (p.Gly2005Asp)
c.5939G>A (p.Gly1980Asp)
n.6560G>A
c.6128G>A (p.Gly2043Asp)
c.6098G>A (p.Gly2033Asp)
c.6050G>A (p.Gly2017Asp)
c.6017G>A (p.Gly2006Asp)
c.5987G>A (p.Gly1996Asp)
c.5984G>A (p.Gly1995Asp)
c.5936G>A (p.Gly1979Asp)
c.5900G>A (p.Gly1967Asp)
c.5897G>A (p.Gly1966Asp)
c.5852G>A (p.Gly1951Asp)
n.6517G>A
 gnomAD v4
Xg.77574359C>ACA413701309ATRXc.6218-1G>T (n.6218-1G>T)
n.53-1G>T
c.1316-1G>T (n.1316-1G>T)
c.6104-1G>T (n.6104-1G>T)
c.*5846-1G>T (n.*5846-1G>T)
c.702-1G>T
n.3288-1G>T
c.6215-1G>T (n.6215-1G>T)
c.6131-1G>T (n.6131-1G>T)
c.6101-1G>T (n.6101-1G>T)
c.6053-1G>T (n.6053-1G>T)
c.6014-1G>T (n.6014-1G>T)
c.5939-1G>T (n.5939-1G>T)
n.6560-1G>T
c.6128-1G>T (n.6128-1G>T)
c.6098-1G>T (n.6098-1G>T)
c.6050-1G>T (n.6050-1G>T)
c.6017-1G>T (n.6017-1G>T)
c.5987-1G>T (n.5987-1G>T)
c.5984-1G>T (n.5984-1G>T)
c.5936-1G>T (n.5936-1G>T)
c.5900-1G>T (n.5900-1G>T)
c.5897-1G>T (n.5897-1G>T)
c.5852-1G>T (n.5852-1G>T)
n.6517-1G>T
Xg.77574359C>GCA413701311ATRXc.6218-1G>C (n.6218-1G>C)
n.53-1G>C
c.1316-1G>C (n.1316-1G>C)
c.6104-1G>C (n.6104-1G>C)
c.*5846-1G>C (n.*5846-1G>C)
c.702-1G>C
n.3288-1G>C
c.6215-1G>C (n.6215-1G>C)
c.6131-1G>C (n.6131-1G>C)
c.6101-1G>C (n.6101-1G>C)
c.6053-1G>C (n.6053-1G>C)
c.6014-1G>C (n.6014-1G>C)
c.5939-1G>C (n.5939-1G>C)
n.6560-1G>C
c.6128-1G>C (n.6128-1G>C)
c.6098-1G>C (n.6098-1G>C)
c.6050-1G>C (n.6050-1G>C)
c.6017-1G>C (n.6017-1G>C)
c.5987-1G>C (n.5987-1G>C)
c.5984-1G>C (n.5984-1G>C)
c.5936-1G>C (n.5936-1G>C)
c.5900-1G>C (n.5900-1G>C)
c.5897-1G>C (n.5897-1G>C)
c.5852-1G>C (n.5852-1G>C)
n.6517-1G>C
Xg.77574359C>TCA413701312ATRXc.6218-1G>A (n.6218-1G>A)
n.53-1G>A
c.1316-1G>A (n.1316-1G>A)
c.6104-1G>A (n.6104-1G>A)
c.*5846-1G>A (n.*5846-1G>A)
c.702-1G>A
n.3288-1G>A
c.6215-1G>A (n.6215-1G>A)
c.6131-1G>A (n.6131-1G>A)
c.6101-1G>A (n.6101-1G>A)
c.6053-1G>A (n.6053-1G>A)
c.6014-1G>A (n.6014-1G>A)
c.5939-1G>A (n.5939-1G>A)
n.6560-1G>A
c.6128-1G>A (n.6128-1G>A)
c.6098-1G>A (n.6098-1G>A)
c.6050-1G>A (n.6050-1G>A)
c.6017-1G>A (n.6017-1G>A)
c.5987-1G>A (n.5987-1G>A)
c.5984-1G>A (n.5984-1G>A)
c.5936-1G>A (n.5936-1G>A)
c.5900-1G>A (n.5900-1G>A)
c.5897-1G>A (n.5897-1G>A)
c.5852-1G>A (n.5852-1G>A)
n.6517-1G>A
Xg.77574360T>ACA413701314ATRXc.6218-2A>T (n.6218-2A>T)
n.53-2A>T
c.1316-2A>T (n.1316-2A>T)
c.6104-2A>T (n.6104-2A>T)
c.*5846-2A>T (n.*5846-2A>T)
c.702-2A>T
n.3288-2A>T
c.6215-2A>T (n.6215-2A>T)
c.6131-2A>T (n.6131-2A>T)
c.6101-2A>T (n.6101-2A>T)
c.6053-2A>T (n.6053-2A>T)
c.6014-2A>T (n.6014-2A>T)
c.5939-2A>T (n.5939-2A>T)
n.6560-2A>T
c.6128-2A>T (n.6128-2A>T)
c.6098-2A>T (n.6098-2A>T)
c.6050-2A>T (n.6050-2A>T)
c.6017-2A>T (n.6017-2A>T)
c.5987-2A>T (n.5987-2A>T)
c.5984-2A>T (n.5984-2A>T)
c.5936-2A>T (n.5936-2A>T)
c.5900-2A>T (n.5900-2A>T)
c.5897-2A>T (n.5897-2A>T)
c.5852-2A>T (n.5852-2A>T)
n.6517-2A>T
Xg.77574360T>CCA413701316ATRXc.6218-2A>G (n.6218-2A>G)
n.53-2A>G
c.1316-2A>G (n.1316-2A>G)
c.6104-2A>G (n.6104-2A>G)
c.*5846-2A>G (n.*5846-2A>G)
c.702-2A>G
n.3288-2A>G
c.6215-2A>G (n.6215-2A>G)
c.6131-2A>G (n.6131-2A>G)
c.6101-2A>G (n.6101-2A>G)
c.6053-2A>G (n.6053-2A>G)
c.6014-2A>G (n.6014-2A>G)
c.5939-2A>G (n.5939-2A>G)
n.6560-2A>G
c.6128-2A>G (n.6128-2A>G)
c.6098-2A>G (n.6098-2A>G)
c.6050-2A>G (n.6050-2A>G)
c.6017-2A>G (n.6017-2A>G)
c.5987-2A>G (n.5987-2A>G)
c.5984-2A>G (n.5984-2A>G)
c.5936-2A>G (n.5936-2A>G)
c.5900-2A>G (n.5900-2A>G)
c.5897-2A>G (n.5897-2A>G)
c.5852-2A>G (n.5852-2A>G)
n.6517-2A>G
 gnomAD v4
Xg.77574360T>GCA413701317ATRXc.6218-2A>C (n.6218-2A>C)
n.53-2A>C
c.1316-2A>C (n.1316-2A>C)
c.6104-2A>C (n.6104-2A>C)
c.*5846-2A>C (n.*5846-2A>C)
c.702-2A>C
n.3288-2A>C
c.6215-2A>C (n.6215-2A>C)
c.6131-2A>C (n.6131-2A>C)
c.6101-2A>C (n.6101-2A>C)
c.6053-2A>C (n.6053-2A>C)
c.6014-2A>C (n.6014-2A>C)
c.5939-2A>C (n.5939-2A>C)
n.6560-2A>C
c.6128-2A>C (n.6128-2A>C)
c.6098-2A>C (n.6098-2A>C)
c.6050-2A>C (n.6050-2A>C)
c.6017-2A>C (n.6017-2A>C)
c.5987-2A>C (n.5987-2A>C)
c.5984-2A>C (n.5984-2A>C)
c.5936-2A>C (n.5936-2A>C)
c.5900-2A>C (n.5900-2A>C)
c.5897-2A>C (n.5897-2A>C)
c.5852-2A>C (n.5852-2A>C)
n.6517-2A>C
Xg.77574361G>TCA2694140377ATRXc.6218-3C>A (n.6218-3C>A)
n.53-3C>A
c.1316-3C>A (n.1316-3C>A)
c.6104-3C>A (n.6104-3C>A)
c.*5846-3C>A (n.*5846-3C>A)
c.702-3C>A
n.3288-3C>A
c.6215-3C>A (n.6215-3C>A)
c.6131-3C>A (n.6131-3C>A)
c.6101-3C>A (n.6101-3C>A)
c.6053-3C>A (n.6053-3C>A)
c.6014-3C>A (n.6014-3C>A)
c.5939-3C>A (n.5939-3C>A)
n.6560-3C>A
c.6128-3C>A (n.6128-3C>A)
c.6098-3C>A (n.6098-3C>A)
c.6050-3C>A (n.6050-3C>A)
c.6017-3C>A (n.6017-3C>A)
c.5987-3C>A (n.5987-3C>A)
c.5984-3C>A (n.5984-3C>A)
c.5936-3C>A (n.5936-3C>A)
c.5900-3C>A (n.5900-3C>A)
c.5897-3C>A (n.5897-3C>A)
c.5852-3C>A (n.5852-3C>A)
n.6517-3C>A
 gnomAD v4
Xg.77574362A>GCA2694140378ATRXc.6218-4T>C (n.6218-4T>C)
n.53-4T>C
c.1316-4T>C (n.1316-4T>C)
c.6104-4T>C (n.6104-4T>C)
c.*5846-4T>C (n.*5846-4T>C)
c.702-4T>C
n.3288-4T>C
c.6215-4T>C (n.6215-4T>C)
c.6131-4T>C (n.6131-4T>C)
c.6101-4T>C (n.6101-4T>C)
c.6053-4T>C (n.6053-4T>C)
c.6014-4T>C (n.6014-4T>C)
c.5939-4T>C (n.5939-4T>C)
n.6560-4T>C
c.6128-4T>C (n.6128-4T>C)
c.6098-4T>C (n.6098-4T>C)
c.6050-4T>C (n.6050-4T>C)
c.6017-4T>C (n.6017-4T>C)
c.5987-4T>C (n.5987-4T>C)
c.5984-4T>C (n.5984-4T>C)
c.5936-4T>C (n.5936-4T>C)
c.5900-4T>C (n.5900-4T>C)
c.5897-4T>C (n.5897-4T>C)
c.5852-4T>C (n.5852-4T>C)
n.6517-4T>C
 gnomAD v4
Xg.77574364A>GCA2694140379ATRXc.6218-6T>C (n.6218-6T>C)
n.53-6T>C
c.1316-6T>C (n.1316-6T>C)
c.6104-6T>C (n.6104-6T>C)
c.*5846-6T>C (n.*5846-6T>C)
c.702-6T>C
n.3288-6T>C
c.6215-6T>C (n.6215-6T>C)
c.6131-6T>C (n.6131-6T>C)
c.6101-6T>C (n.6101-6T>C)
c.6053-6T>C (n.6053-6T>C)
c.6014-6T>C (n.6014-6T>C)
c.5939-6T>C (n.5939-6T>C)
n.6560-6T>C
c.6128-6T>C (n.6128-6T>C)
c.6098-6T>C (n.6098-6T>C)
c.6050-6T>C (n.6050-6T>C)
c.6017-6T>C (n.6017-6T>C)
c.5987-6T>C (n.5987-6T>C)
c.5984-6T>C (n.5984-6T>C)
c.5936-6T>C (n.5936-6T>C)
c.5900-6T>C (n.5900-6T>C)
c.5897-6T>C (n.5897-6T>C)
c.5852-6T>C (n.5852-6T>C)
n.6517-6T>C
 gnomAD v4
Xg.77574364A>TCA645610433ATRXc.6218-6T>A (n.6218-6T>A)
n.53-6T>A
c.1316-6T>A (n.1316-6T>A)
c.6104-6T>A (n.6104-6T>A)
c.*5846-6T>A (n.*5846-6T>A)
c.702-6T>A
n.3288-6T>A
c.6215-6T>A (n.6215-6T>A)
c.6131-6T>A (n.6131-6T>A)
c.6101-6T>A (n.6101-6T>A)
c.6053-6T>A (n.6053-6T>A)
c.6014-6T>A (n.6014-6T>A)
c.5939-6T>A (n.5939-6T>A)
n.6560-6T>A
c.6128-6T>A (n.6128-6T>A)
c.6098-6T>A (n.6098-6T>A)
c.6050-6T>A (n.6050-6T>A)
c.6017-6T>A (n.6017-6T>A)
c.5987-6T>A (n.5987-6T>A)
c.5984-6T>A (n.5984-6T>A)
c.5936-6T>A (n.5936-6T>A)
c.5900-6T>A (n.5900-6T>A)
c.5897-6T>A (n.5897-6T>A)
c.5852-6T>A (n.5852-6T>A)
n.6517-6T>A
 COSMIC COSMIC
Xg.77574368T>ACA2579648817ATRXc.6218-10A>T (n.6218-10A>T)
n.53-10A>T
c.1316-10A>T (n.1316-10A>T)
c.6104-10A>T (n.6104-10A>T)
c.*5846-10A>T (n.*5846-10A>T)
c.702-10A>T
n.3288-10A>T
c.6215-10A>T (n.6215-10A>T)
c.6131-10A>T (n.6131-10A>T)
c.6101-10A>T (n.6101-10A>T)
c.6053-10A>T (n.6053-10A>T)
c.6014-10A>T (n.6014-10A>T)
c.5939-10A>T (n.5939-10A>T)
n.6560-10A>T
c.6128-10A>T (n.6128-10A>T)
c.6098-10A>T (n.6098-10A>T)
c.6050-10A>T (n.6050-10A>T)
c.6017-10A>T (n.6017-10A>T)
c.5987-10A>T (n.5987-10A>T)
c.5984-10A>T (n.5984-10A>T)
c.5936-10A>T (n.5936-10A>T)
c.5900-10A>T (n.5900-10A>T)
c.5897-10A>T (n.5897-10A>T)
c.5852-10A>T (n.5852-10A>T)
n.6517-10A>T
 gnomAD v4
Xg.77574370_77574371insTGATGAAACA2551077118ATRXc.6218-11_6218-10insTCATCATT (n.6218-11_6218-10insTCATCATT)
n.53-11_53-10insTCATCATT
c.1316-11_1316-10insTCATCATT (n.1316-11_1316-10insTCATCATT)
c.6104-11_6104-10insTCATCATT (n.6104-11_6104-10insTCATCATT)
c.*5846-11_*5846-10insTCATCATT (n.*5846-11_*5846-10insTCATCATT)
c.702-11_702-10insTCATCATT
n.3288-11_3288-10insTCATCATT
c.6215-11_6215-10insTCATCATT (n.6215-11_6215-10insTCATCATT)
c.6131-11_6131-10insTCATCATT (n.6131-11_6131-10insTCATCATT)
c.6101-11_6101-10insTCATCATT (n.6101-11_6101-10insTCATCATT)
c.6053-11_6053-10insTCATCATT (n.6053-11_6053-10insTCATCATT)
c.6014-11_6014-10insTCATCATT (n.6014-11_6014-10insTCATCATT)
c.5939-11_5939-10insTCATCATT (n.5939-11_5939-10insTCATCATT)
n.6560-11_6560-10insTCATCATT
c.6128-11_6128-10insTCATCATT (n.6128-11_6128-10insTCATCATT)
c.6098-11_6098-10insTCATCATT (n.6098-11_6098-10insTCATCATT)
c.6050-11_6050-10insTCATCATT (n.6050-11_6050-10insTCATCATT)
c.6017-11_6017-10insTCATCATT (n.6017-11_6017-10insTCATCATT)
c.5987-11_5987-10insTCATCATT (n.5987-11_5987-10insTCATCATT)
c.5984-11_5984-10insTCATCATT (n.5984-11_5984-10insTCATCATT)
c.5936-11_5936-10insTCATCATT (n.5936-11_5936-10insTCATCATT)
c.5900-11_5900-10insTCATCATT (n.5900-11_5900-10insTCATCATT)
c.5897-11_5897-10insTCATCATT (n.5897-11_5897-10insTCATCATT)
c.5852-11_5852-10insTCATCATT (n.5852-11_5852-10insTCATCATT)
n.6517-11_6517-10insTCATCATT
 dbSNP
Xg.77574370_77574371insTGATGAAACTAATGTGAGGTAGGAAAAATTTTCA2738741427ATRXc.6218-13_6218-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.6218-13_6218-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
n.53-13_53-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA
c.1316-13_1316-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.1316-13_1316-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.6104-13_6104-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.6104-13_6104-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.*5846-13_*5846-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.*5846-13_*5846-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.702-13_702-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA
n.3288-13_3288-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA
c.6215-13_6215-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.6215-13_6215-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.6131-13_6131-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.6131-13_6131-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.6101-13_6101-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.6101-13_6101-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.6053-13_6053-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.6053-13_6053-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.6014-13_6014-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.6014-13_6014-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.5939-13_5939-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.5939-13_5939-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
n.6560-13_6560-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA
c.6128-13_6128-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.6128-13_6128-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.6098-13_6098-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.6098-13_6098-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.6050-13_6050-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.6050-13_6050-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.6017-13_6017-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.6017-13_6017-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.5987-13_5987-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.5987-13_5987-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.5984-13_5984-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.5984-13_5984-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.5936-13_5936-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.5936-13_5936-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.5900-13_5900-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.5900-13_5900-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.5897-13_5897-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.5897-13_5897-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
c.5852-13_5852-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA (n.5852-13_5852-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA)
n.6517-13_6517-12insAAAATTTTTCCTACCTCACATTAGTTTCATCA
 dbSNP
Xg.77574371C>ACA2521515128ATRXc.6218-13G>T (n.6218-13G>T)
n.53-13G>T
c.1316-13G>T (n.1316-13G>T)
c.6104-13G>T (n.6104-13G>T)
c.*5846-13G>T (n.*5846-13G>T)
c.702-13G>T
n.3288-13G>T
c.6215-13G>T (n.6215-13G>T)
c.6131-13G>T (n.6131-13G>T)
c.6101-13G>T (n.6101-13G>T)
c.6053-13G>T (n.6053-13G>T)
c.6014-13G>T (n.6014-13G>T)
c.5939-13G>T (n.5939-13G>T)
n.6560-13G>T
c.6128-13G>T (n.6128-13G>T)
c.6098-13G>T (n.6098-13G>T)
c.6050-13G>T (n.6050-13G>T)
c.6017-13G>T (n.6017-13G>T)
c.5987-13G>T (n.5987-13G>T)
c.5984-13G>T (n.5984-13G>T)
c.5936-13G>T (n.5936-13G>T)
c.5900-13G>T (n.5900-13G>T)
c.5897-13G>T (n.5897-13G>T)
c.5852-13G>T (n.5852-13G>T)
n.6517-13G>T
Xg.77574372A=CA2438951409ATRXc.6218-14T= (n.6218-14T=)
n.53-14T=
c.1316-14T= (n.1316-14T=)
c.6104-14T= (n.6104-14T=)
c.*5846-14T= (n.*5846-14T=)
c.702-14T=
n.3288-14T=
c.6215-14T= (n.6215-14T=)
c.6131-14T= (n.6131-14T=)
c.6101-14T= (n.6101-14T=)
c.6053-14T= (n.6053-14T=)
c.6014-14T= (n.6014-14T=)
c.5939-14T= (n.5939-14T=)
n.6560-14T=
c.6128-14T= (n.6128-14T=)
c.6098-14T= (n.6098-14T=)
c.6050-14T= (n.6050-14T=)
c.6017-14T= (n.6017-14T=)
c.5987-14T= (n.5987-14T=)
c.5984-14T= (n.5984-14T=)
c.5936-14T= (n.5936-14T=)
c.5900-14T= (n.5900-14T=)
c.5897-14T= (n.5897-14T=)
c.5852-14T= (n.5852-14T=)
n.6517-14T=
Xg.77574372A>CCA10457523ATRXc.6218-14T>G (n.6218-14T>G)
n.53-14T>G
c.1316-14T>G (n.1316-14T>G)
c.6104-14T>G (n.6104-14T>G)
c.*5846-14T>G (n.*5846-14T>G)
c.702-14T>G
n.3288-14T>G
c.6215-14T>G (n.6215-14T>G)
c.6131-14T>G (n.6131-14T>G)
c.6101-14T>G (n.6101-14T>G)
c.6053-14T>G (n.6053-14T>G)
c.6014-14T>G (n.6014-14T>G)
c.5939-14T>G (n.5939-14T>G)
n.6560-14T>G
c.6128-14T>G (n.6128-14T>G)
c.6098-14T>G (n.6098-14T>G)
c.6050-14T>G (n.6050-14T>G)
c.6017-14T>G (n.6017-14T>G)
c.5987-14T>G (n.5987-14T>G)
c.5984-14T>G (n.5984-14T>G)
c.5936-14T>G (n.5936-14T>G)
c.5900-14T>G (n.5900-14T>G)
c.5897-14T>G (n.5897-14T>G)
c.5852-14T>G (n.5852-14T>G)
n.6517-14T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77574372A>GCA10457524ATRXc.6218-14T>C (n.6218-14T>C)
n.53-14T>C
c.1316-14T>C (n.1316-14T>C)
c.6104-14T>C (n.6104-14T>C)
c.*5846-14T>C (n.*5846-14T>C)
c.702-14T>C
n.3288-14T>C
c.6215-14T>C (n.6215-14T>C)
c.6131-14T>C (n.6131-14T>C)
c.6101-14T>C (n.6101-14T>C)
c.6053-14T>C (n.6053-14T>C)
c.6014-14T>C (n.6014-14T>C)
c.5939-14T>C (n.5939-14T>C)
n.6560-14T>C
c.6128-14T>C (n.6128-14T>C)
c.6098-14T>C (n.6098-14T>C)
c.6050-14T>C (n.6050-14T>C)
c.6017-14T>C (n.6017-14T>C)
c.5987-14T>C (n.5987-14T>C)
c.5984-14T>C (n.5984-14T>C)
c.5936-14T>C (n.5936-14T>C)
c.5900-14T>C (n.5900-14T>C)
c.5897-14T>C (n.5897-14T>C)
c.5852-14T>C (n.5852-14T>C)
n.6517-14T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77574372A>TCA2499618002ATRXc.6218-14T>A (n.6218-14T>A)
n.53-14T>A
c.1316-14T>A (n.1316-14T>A)
c.6104-14T>A (n.6104-14T>A)
c.*5846-14T>A (n.*5846-14T>A)
c.702-14T>A
n.3288-14T>A
c.6215-14T>A (n.6215-14T>A)
c.6131-14T>A (n.6131-14T>A)
c.6101-14T>A (n.6101-14T>A)
c.6053-14T>A (n.6053-14T>A)
c.6014-14T>A (n.6014-14T>A)
c.5939-14T>A (n.5939-14T>A)
n.6560-14T>A
c.6128-14T>A (n.6128-14T>A)
c.6098-14T>A (n.6098-14T>A)
c.6050-14T>A (n.6050-14T>A)
c.6017-14T>A (n.6017-14T>A)
c.5987-14T>A (n.5987-14T>A)
c.5984-14T>A (n.5984-14T>A)
c.5936-14T>A (n.5936-14T>A)
c.5900-14T>A (n.5900-14T>A)
c.5897-14T>A (n.5897-14T>A)
c.5852-14T>A (n.5852-14T>A)
n.6517-14T>A
Xg.77574373A=CA2438951410ATRXc.6218-15T= (n.6218-15T=)
n.53-15T=
c.1316-15T= (n.1316-15T=)
c.6104-15T= (n.6104-15T=)
c.*5846-15T= (n.*5846-15T=)
c.702-15T=
n.3288-15T=
c.6215-15T= (n.6215-15T=)
c.6131-15T= (n.6131-15T=)
c.6101-15T= (n.6101-15T=)
c.6053-15T= (n.6053-15T=)
c.6014-15T= (n.6014-15T=)
c.5939-15T= (n.5939-15T=)
n.6560-15T=
c.6128-15T= (n.6128-15T=)
c.6098-15T= (n.6098-15T=)
c.6050-15T= (n.6050-15T=)
c.6017-15T= (n.6017-15T=)
c.5987-15T= (n.5987-15T=)
c.5984-15T= (n.5984-15T=)
c.5936-15T= (n.5936-15T=)
c.5900-15T= (n.5900-15T=)
c.5897-15T= (n.5897-15T=)
c.5852-15T= (n.5852-15T=)
n.6517-15T=
Xg.77574373A>GCA10457525ATRXc.6218-15T>C (n.6218-15T>C)
n.53-15T>C
c.1316-15T>C (n.1316-15T>C)
c.6104-15T>C (n.6104-15T>C)
c.*5846-15T>C (n.*5846-15T>C)
c.702-15T>C
n.3288-15T>C
c.6215-15T>C (n.6215-15T>C)
c.6131-15T>C (n.6131-15T>C)
c.6101-15T>C (n.6101-15T>C)
c.6053-15T>C (n.6053-15T>C)
c.6014-15T>C (n.6014-15T>C)
c.5939-15T>C (n.5939-15T>C)
n.6560-15T>C
c.6128-15T>C (n.6128-15T>C)
c.6098-15T>C (n.6098-15T>C)
c.6050-15T>C (n.6050-15T>C)
c.6017-15T>C (n.6017-15T>C)
c.5987-15T>C (n.5987-15T>C)
c.5984-15T>C (n.5984-15T>C)
c.5936-15T>C (n.5936-15T>C)
c.5900-15T>C (n.5900-15T>C)
c.5897-15T>C (n.5897-15T>C)
c.5852-15T>C (n.5852-15T>C)
n.6517-15T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77574373A>TCA2694140380ATRXc.6218-15T>A (n.6218-15T>A)
n.53-15T>A
c.1316-15T>A (n.1316-15T>A)
c.6104-15T>A (n.6104-15T>A)
c.*5846-15T>A (n.*5846-15T>A)
c.702-15T>A
n.3288-15T>A
c.6215-15T>A (n.6215-15T>A)
c.6131-15T>A (n.6131-15T>A)
c.6101-15T>A (n.6101-15T>A)
c.6053-15T>A (n.6053-15T>A)
c.6014-15T>A (n.6014-15T>A)
c.5939-15T>A (n.5939-15T>A)
n.6560-15T>A
c.6128-15T>A (n.6128-15T>A)
c.6098-15T>A (n.6098-15T>A)
c.6050-15T>A (n.6050-15T>A)
c.6017-15T>A (n.6017-15T>A)
c.5987-15T>A (n.5987-15T>A)
c.5984-15T>A (n.5984-15T>A)
c.5936-15T>A (n.5936-15T>A)
c.5900-15T>A (n.5900-15T>A)
c.5897-15T>A (n.5897-15T>A)
c.5852-15T>A (n.5852-15T>A)
n.6517-15T>A
 gnomAD v4
Xg.77574373_77574374insTGTGAGGTCA2738741429ATRXc.6218-16_6218-15insACCTCACA (n.6218-16_6218-15insACCTCACA)
n.53-16_53-15insACCTCACA
c.1316-16_1316-15insACCTCACA (n.1316-16_1316-15insACCTCACA)
c.6104-16_6104-15insACCTCACA (n.6104-16_6104-15insACCTCACA)
c.*5846-16_*5846-15insACCTCACA (n.*5846-16_*5846-15insACCTCACA)
c.702-16_702-15insACCTCACA
n.3288-16_3288-15insACCTCACA
c.6215-16_6215-15insACCTCACA (n.6215-16_6215-15insACCTCACA)
c.6131-16_6131-15insACCTCACA (n.6131-16_6131-15insACCTCACA)
c.6101-16_6101-15insACCTCACA (n.6101-16_6101-15insACCTCACA)
c.6053-16_6053-15insACCTCACA (n.6053-16_6053-15insACCTCACA)
c.6014-16_6014-15insACCTCACA (n.6014-16_6014-15insACCTCACA)
c.5939-16_5939-15insACCTCACA (n.5939-16_5939-15insACCTCACA)
n.6560-16_6560-15insACCTCACA
c.6128-16_6128-15insACCTCACA (n.6128-16_6128-15insACCTCACA)
c.6098-16_6098-15insACCTCACA (n.6098-16_6098-15insACCTCACA)
c.6050-16_6050-15insACCTCACA (n.6050-16_6050-15insACCTCACA)
c.6017-16_6017-15insACCTCACA (n.6017-16_6017-15insACCTCACA)
c.5987-16_5987-15insACCTCACA (n.5987-16_5987-15insACCTCACA)
c.5984-16_5984-15insACCTCACA (n.5984-16_5984-15insACCTCACA)
c.5936-16_5936-15insACCTCACA (n.5936-16_5936-15insACCTCACA)
c.5900-16_5900-15insACCTCACA (n.5900-16_5900-15insACCTCACA)
c.5897-16_5897-15insACCTCACA (n.5897-16_5897-15insACCTCACA)
c.5852-16_5852-15insACCTCACA (n.5852-16_5852-15insACCTCACA)
n.6517-16_6517-15insACCTCACA
 dbSNP
Xg.77574374A>CCA2545138099ATRXc.6218-16T>G (n.6218-16T>G)
n.53-16T>G
c.1316-16T>G (n.1316-16T>G)
c.6104-16T>G (n.6104-16T>G)
c.*5846-16T>G (n.*5846-16T>G)
c.702-16T>G
n.3288-16T>G
c.6215-16T>G (n.6215-16T>G)
c.6131-16T>G (n.6131-16T>G)
c.6101-16T>G (n.6101-16T>G)
c.6053-16T>G (n.6053-16T>G)
c.6014-16T>G (n.6014-16T>G)
c.5939-16T>G (n.5939-16T>G)
n.6560-16T>G
c.6128-16T>G (n.6128-16T>G)
c.6098-16T>G (n.6098-16T>G)
c.6050-16T>G (n.6050-16T>G)
c.6017-16T>G (n.6017-16T>G)
c.5987-16T>G (n.5987-16T>G)
c.5984-16T>G (n.5984-16T>G)
c.5936-16T>G (n.5936-16T>G)
c.5900-16T>G (n.5900-16T>G)
c.5897-16T>G (n.5897-16T>G)
c.5852-16T>G (n.5852-16T>G)
n.6517-16T>G
Xg.77574375A=CA2438951411ATRXc.6218-17T= (n.6218-17T=)
n.53-17T=
c.1316-17T= (n.1316-17T=)
c.6104-17T= (n.6104-17T=)
c.*5846-17T= (n.*5846-17T=)
c.702-17T=
n.3288-17T=
c.6215-17T= (n.6215-17T=)
c.6131-17T= (n.6131-17T=)
c.6101-17T= (n.6101-17T=)
c.6053-17T= (n.6053-17T=)
c.6014-17T= (n.6014-17T=)
c.5939-17T= (n.5939-17T=)
n.6560-17T=
c.6128-17T= (n.6128-17T=)
c.6098-17T= (n.6098-17T=)
c.6050-17T= (n.6050-17T=)
c.6017-17T= (n.6017-17T=)
c.5987-17T= (n.5987-17T=)
c.5984-17T= (n.5984-17T=)
c.5936-17T= (n.5936-17T=)
c.5900-17T= (n.5900-17T=)
c.5897-17T= (n.5897-17T=)
c.5852-17T= (n.5852-17T=)
n.6517-17T=
Xg.77574375A>GCA10457526ATRXc.6218-17T>C (n.6218-17T>C)
n.53-17T>C
c.1316-17T>C (n.1316-17T>C)
c.6104-17T>C (n.6104-17T>C)
c.*5846-17T>C (n.*5846-17T>C)
c.702-17T>C
n.3288-17T>C
c.6215-17T>C (n.6215-17T>C)
c.6131-17T>C (n.6131-17T>C)
c.6101-17T>C (n.6101-17T>C)
c.6053-17T>C (n.6053-17T>C)
c.6014-17T>C (n.6014-17T>C)
c.5939-17T>C (n.5939-17T>C)
n.6560-17T>C
c.6128-17T>C (n.6128-17T>C)
c.6098-17T>C (n.6098-17T>C)
c.6050-17T>C (n.6050-17T>C)
c.6017-17T>C (n.6017-17T>C)
c.5987-17T>C (n.5987-17T>C)
c.5984-17T>C (n.5984-17T>C)
c.5936-17T>C (n.5936-17T>C)
c.5900-17T>C (n.5900-17T>C)
c.5897-17T>C (n.5897-17T>C)
c.5852-17T>C (n.5852-17T>C)
n.6517-17T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77574375A>TCA2554299552ATRXc.6218-17T>A (n.6218-17T>A)
n.53-17T>A
c.1316-17T>A (n.1316-17T>A)
c.6104-17T>A (n.6104-17T>A)
c.*5846-17T>A (n.*5846-17T>A)
c.702-17T>A
n.3288-17T>A
c.6215-17T>A (n.6215-17T>A)
c.6131-17T>A (n.6131-17T>A)
c.6101-17T>A (n.6101-17T>A)
c.6053-17T>A (n.6053-17T>A)
c.6014-17T>A (n.6014-17T>A)
c.5939-17T>A (n.5939-17T>A)
n.6560-17T>A
c.6128-17T>A (n.6128-17T>A)
c.6098-17T>A (n.6098-17T>A)
c.6050-17T>A (n.6050-17T>A)
c.6017-17T>A (n.6017-17T>A)
c.5987-17T>A (n.5987-17T>A)
c.5984-17T>A (n.5984-17T>A)
c.5936-17T>A (n.5936-17T>A)
c.5900-17T>A (n.5900-17T>A)
c.5897-17T>A (n.5897-17T>A)
c.5852-17T>A (n.5852-17T>A)
n.6517-17T>A
Xg.77574375_77574376insAACCCAAACACACCCA2821944087ATRXc.6218-18_6218-17insGGTGTGTTTGGGTT (n.6218-18_6218-17insGGTGTGTTTGGGTT)
n.53-18_53-17insGGTGTGTTTGGGTT
c.1316-18_1316-17insGGTGTGTTTGGGTT (n.1316-18_1316-17insGGTGTGTTTGGGTT)
c.6104-18_6104-17insGGTGTGTTTGGGTT (n.6104-18_6104-17insGGTGTGTTTGGGTT)
c.*5846-18_*5846-17insGGTGTGTTTGGGTT (n.*5846-18_*5846-17insGGTGTGTTTGGGTT)
c.702-18_702-17insGGTGTGTTTGGGTT
n.3288-18_3288-17insGGTGTGTTTGGGTT
c.6215-18_6215-17insGGTGTGTTTGGGTT (n.6215-18_6215-17insGGTGTGTTTGGGTT)
c.6131-18_6131-17insGGTGTGTTTGGGTT (n.6131-18_6131-17insGGTGTGTTTGGGTT)
c.6101-18_6101-17insGGTGTGTTTGGGTT (n.6101-18_6101-17insGGTGTGTTTGGGTT)
c.6053-18_6053-17insGGTGTGTTTGGGTT (n.6053-18_6053-17insGGTGTGTTTGGGTT)
c.6014-18_6014-17insGGTGTGTTTGGGTT (n.6014-18_6014-17insGGTGTGTTTGGGTT)
c.5939-18_5939-17insGGTGTGTTTGGGTT (n.5939-18_5939-17insGGTGTGTTTGGGTT)
n.6560-18_6560-17insGGTGTGTTTGGGTT
c.6128-18_6128-17insGGTGTGTTTGGGTT (n.6128-18_6128-17insGGTGTGTTTGGGTT)
c.6098-18_6098-17insGGTGTGTTTGGGTT (n.6098-18_6098-17insGGTGTGTTTGGGTT)
c.6050-18_6050-17insGGTGTGTTTGGGTT (n.6050-18_6050-17insGGTGTGTTTGGGTT)
c.6017-18_6017-17insGGTGTGTTTGGGTT (n.6017-18_6017-17insGGTGTGTTTGGGTT)
c.5987-18_5987-17insGGTGTGTTTGGGTT (n.5987-18_5987-17insGGTGTGTTTGGGTT)
c.5984-18_5984-17insGGTGTGTTTGGGTT (n.5984-18_5984-17insGGTGTGTTTGGGTT)
c.5936-18_5936-17insGGTGTGTTTGGGTT (n.5936-18_5936-17insGGTGTGTTTGGGTT)
c.5900-18_5900-17insGGTGTGTTTGGGTT (n.5900-18_5900-17insGGTGTGTTTGGGTT)
c.5897-18_5897-17insGGTGTGTTTGGGTT (n.5897-18_5897-17insGGTGTGTTTGGGTT)
c.5852-18_5852-17insGGTGTGTTTGGGTT (n.5852-18_5852-17insGGTGTGTTTGGGTT)
n.6517-18_6517-17insGGTGTGTTTGGGTT
Xg.77574375_77574376insAACCCCAAACACACCCA2821944088ATRXc.6218-18_6218-17insGGTGTGTTTGGGGTT (n.6218-18_6218-17insGGTGTGTTTGGGGTT)
n.53-18_53-17insGGTGTGTTTGGGGTT
c.1316-18_1316-17insGGTGTGTTTGGGGTT (n.1316-18_1316-17insGGTGTGTTTGGGGTT)
c.6104-18_6104-17insGGTGTGTTTGGGGTT (n.6104-18_6104-17insGGTGTGTTTGGGGTT)
c.*5846-18_*5846-17insGGTGTGTTTGGGGTT (n.*5846-18_*5846-17insGGTGTGTTTGGGGTT)
c.702-18_702-17insGGTGTGTTTGGGGTT
n.3288-18_3288-17insGGTGTGTTTGGGGTT
c.6215-18_6215-17insGGTGTGTTTGGGGTT (n.6215-18_6215-17insGGTGTGTTTGGGGTT)
c.6131-18_6131-17insGGTGTGTTTGGGGTT (n.6131-18_6131-17insGGTGTGTTTGGGGTT)
c.6101-18_6101-17insGGTGTGTTTGGGGTT (n.6101-18_6101-17insGGTGTGTTTGGGGTT)
c.6053-18_6053-17insGGTGTGTTTGGGGTT (n.6053-18_6053-17insGGTGTGTTTGGGGTT)
c.6014-18_6014-17insGGTGTGTTTGGGGTT (n.6014-18_6014-17insGGTGTGTTTGGGGTT)
c.5939-18_5939-17insGGTGTGTTTGGGGTT (n.5939-18_5939-17insGGTGTGTTTGGGGTT)
n.6560-18_6560-17insGGTGTGTTTGGGGTT
c.6128-18_6128-17insGGTGTGTTTGGGGTT (n.6128-18_6128-17insGGTGTGTTTGGGGTT)
c.6098-18_6098-17insGGTGTGTTTGGGGTT (n.6098-18_6098-17insGGTGTGTTTGGGGTT)
c.6050-18_6050-17insGGTGTGTTTGGGGTT (n.6050-18_6050-17insGGTGTGTTTGGGGTT)
c.6017-18_6017-17insGGTGTGTTTGGGGTT (n.6017-18_6017-17insGGTGTGTTTGGGGTT)
c.5987-18_5987-17insGGTGTGTTTGGGGTT (n.5987-18_5987-17insGGTGTGTTTGGGGTT)
c.5984-18_5984-17insGGTGTGTTTGGGGTT (n.5984-18_5984-17insGGTGTGTTTGGGGTT)
c.5936-18_5936-17insGGTGTGTTTGGGGTT (n.5936-18_5936-17insGGTGTGTTTGGGGTT)
c.5900-18_5900-17insGGTGTGTTTGGGGTT (n.5900-18_5900-17insGGTGTGTTTGGGGTT)
c.5897-18_5897-17insGGTGTGTTTGGGGTT (n.5897-18_5897-17insGGTGTGTTTGGGGTT)
c.5852-18_5852-17insGGTGTGTTTGGGGTT (n.5852-18_5852-17insGGTGTGTTTGGGGTT)
n.6517-18_6517-17insGGTGTGTTTGGGGTT
Xg.77574376G>ACA2438951413ATRXc.6218-18C>T (n.6218-18C>T)
n.53-18C>T
c.1316-18C>T (n.1316-18C>T)
c.6104-18C>T (n.6104-18C>T)
c.*5846-18C>T (n.*5846-18C>T)
c.702-18C>T
n.3288-18C>T
c.6215-18C>T (n.6215-18C>T)
c.6131-18C>T (n.6131-18C>T)
c.6101-18C>T (n.6101-18C>T)
c.6053-18C>T (n.6053-18C>T)
c.6014-18C>T (n.6014-18C>T)
c.5939-18C>T (n.5939-18C>T)
n.6560-18C>T
c.6128-18C>T (n.6128-18C>T)
c.6098-18C>T (n.6098-18C>T)
c.6050-18C>T (n.6050-18C>T)
c.6017-18C>T (n.6017-18C>T)
c.5987-18C>T (n.5987-18C>T)
c.5984-18C>T (n.5984-18C>T)
c.5936-18C>T (n.5936-18C>T)
c.5900-18C>T (n.5900-18C>T)
c.5897-18C>T (n.5897-18C>T)
c.5852-18C>T (n.5852-18C>T)
n.6517-18C>T
 dbSNP gnomAD v4
Xg.77574376G>CCA642693648ATRXc.6218-18C>G (n.6218-18C>G)
n.53-18C>G
c.1316-18C>G (n.1316-18C>G)
c.6104-18C>G (n.6104-18C>G)
c.*5846-18C>G (n.*5846-18C>G)
c.702-18C>G
n.3288-18C>G
c.6215-18C>G (n.6215-18C>G)
c.6131-18C>G (n.6131-18C>G)
c.6101-18C>G (n.6101-18C>G)
c.6053-18C>G (n.6053-18C>G)
c.6014-18C>G (n.6014-18C>G)
c.5939-18C>G (n.5939-18C>G)
n.6560-18C>G
c.6128-18C>G (n.6128-18C>G)
c.6098-18C>G (n.6098-18C>G)
c.6050-18C>G (n.6050-18C>G)
c.6017-18C>G (n.6017-18C>G)
c.5987-18C>G (n.5987-18C>G)
c.5984-18C>G (n.5984-18C>G)
c.5936-18C>G (n.5936-18C>G)
c.5900-18C>G (n.5900-18C>G)
c.5897-18C>G (n.5897-18C>G)
c.5852-18C>G (n.5852-18C>G)
n.6517-18C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.77574376G=CA2438951412ATRXc.6218-18C= (n.6218-18C=)
n.53-18C=
c.1316-18C= (n.1316-18C=)
c.6104-18C= (n.6104-18C=)
c.*5846-18C= (n.*5846-18C=)
c.702-18C=
n.3288-18C=
c.6215-18C= (n.6215-18C=)
c.6131-18C= (n.6131-18C=)
c.6101-18C= (n.6101-18C=)
c.6053-18C= (n.6053-18C=)
c.6014-18C= (n.6014-18C=)
c.5939-18C= (n.5939-18C=)
n.6560-18C=
c.6128-18C= (n.6128-18C=)
c.6098-18C= (n.6098-18C=)
c.6050-18C= (n.6050-18C=)
c.6017-18C= (n.6017-18C=)
c.5987-18C= (n.5987-18C=)
c.5984-18C= (n.5984-18C=)
c.5936-18C= (n.5936-18C=)
c.5900-18C= (n.5900-18C=)
c.5897-18C= (n.5897-18C=)
c.5852-18C= (n.5852-18C=)
n.6517-18C=
Xg.77574376G>TCA2694140381ATRXc.6218-18C>A (n.6218-18C>A)
n.53-18C>A
c.1316-18C>A (n.1316-18C>A)
c.6104-18C>A (n.6104-18C>A)
c.*5846-18C>A (n.*5846-18C>A)
c.702-18C>A
n.3288-18C>A
c.6215-18C>A (n.6215-18C>A)
c.6131-18C>A (n.6131-18C>A)
c.6101-18C>A (n.6101-18C>A)
c.6053-18C>A (n.6053-18C>A)
c.6014-18C>A (n.6014-18C>A)
c.5939-18C>A (n.5939-18C>A)
n.6560-18C>A
c.6128-18C>A (n.6128-18C>A)
c.6098-18C>A (n.6098-18C>A)
c.6050-18C>A (n.6050-18C>A)
c.6017-18C>A (n.6017-18C>A)
c.5987-18C>A (n.5987-18C>A)
c.5984-18C>A (n.5984-18C>A)
c.5936-18C>A (n.5936-18C>A)
c.5900-18C>A (n.5900-18C>A)
c.5897-18C>A (n.5897-18C>A)
c.5852-18C>A (n.5852-18C>A)
n.6517-18C>A
 gnomAD v4
Xg.77574379C>ACA2694140382ATRXc.6218-21G>T (n.6218-21G>T)
n.53-21G>T
c.1316-21G>T (n.1316-21G>T)
c.6104-21G>T (n.6104-21G>T)
c.*5846-21G>T (n.*5846-21G>T)
c.702-21G>T
n.3288-21G>T
c.6215-21G>T (n.6215-21G>T)
c.6131-21G>T (n.6131-21G>T)
c.6101-21G>T (n.6101-21G>T)
c.6053-21G>T (n.6053-21G>T)
c.6014-21G>T (n.6014-21G>T)
c.5939-21G>T (n.5939-21G>T)
n.6560-21G>T
c.6128-21G>T (n.6128-21G>T)
c.6098-21G>T (n.6098-21G>T)
c.6050-21G>T (n.6050-21G>T)
c.6017-21G>T (n.6017-21G>T)
c.5987-21G>T (n.5987-21G>T)
c.5984-21G>T (n.5984-21G>T)
c.5936-21G>T (n.5936-21G>T)
c.5900-21G>T (n.5900-21G>T)
c.5897-21G>T (n.5897-21G>T)
c.5852-21G>T (n.5852-21G>T)
n.6517-21G>T
 dbSNP gnomAD v4
Xg.77574380A=CA2438951414ATRXc.6218-22T= (n.6218-22T=)
n.53-22T=
c.1316-22T= (n.1316-22T=)
c.6104-22T= (n.6104-22T=)
c.*5846-22T= (n.*5846-22T=)
c.702-22T=
n.3288-22T=
c.6215-22T= (n.6215-22T=)
c.6131-22T= (n.6131-22T=)
c.6101-22T= (n.6101-22T=)
c.6053-22T= (n.6053-22T=)
c.6014-22T= (n.6014-22T=)
c.5939-22T= (n.5939-22T=)
n.6560-22T=
c.6128-22T= (n.6128-22T=)
c.6098-22T= (n.6098-22T=)
c.6050-22T= (n.6050-22T=)
c.6017-22T= (n.6017-22T=)
c.5987-22T= (n.5987-22T=)
c.5984-22T= (n.5984-22T=)
c.5936-22T= (n.5936-22T=)
c.5900-22T= (n.5900-22T=)
c.5897-22T= (n.5897-22T=)
c.5852-22T= (n.5852-22T=)
n.6517-22T=
Xg.77574380A>CCA10457527ATRXc.6218-22T>G (n.6218-22T>G)
n.53-22T>G
c.1316-22T>G (n.1316-22T>G)
c.6104-22T>G (n.6104-22T>G)
c.*5846-22T>G (n.*5846-22T>G)
c.702-22T>G
n.3288-22T>G
c.6215-22T>G (n.6215-22T>G)
c.6131-22T>G (n.6131-22T>G)
c.6101-22T>G (n.6101-22T>G)
c.6053-22T>G (n.6053-22T>G)
c.6014-22T>G (n.6014-22T>G)
c.5939-22T>G (n.5939-22T>G)
n.6560-22T>G
c.6128-22T>G (n.6128-22T>G)
c.6098-22T>G (n.6098-22T>G)
c.6050-22T>G (n.6050-22T>G)
c.6017-22T>G (n.6017-22T>G)
c.5987-22T>G (n.5987-22T>G)
c.5984-22T>G (n.5984-22T>G)
c.5936-22T>G (n.5936-22T>G)
c.5900-22T>G (n.5900-22T>G)
c.5897-22T>G (n.5897-22T>G)
c.5852-22T>G (n.5852-22T>G)
n.6517-22T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77574380A>GCA2694140383ATRXc.6218-22T>C (n.6218-22T>C)
n.53-22T>C
c.1316-22T>C (n.1316-22T>C)
c.6104-22T>C (n.6104-22T>C)
c.*5846-22T>C (n.*5846-22T>C)
c.702-22T>C
n.3288-22T>C
c.6215-22T>C (n.6215-22T>C)
c.6131-22T>C (n.6131-22T>C)
c.6101-22T>C (n.6101-22T>C)
c.6053-22T>C (n.6053-22T>C)
c.6014-22T>C (n.6014-22T>C)
c.5939-22T>C (n.5939-22T>C)
n.6560-22T>C
c.6128-22T>C (n.6128-22T>C)
c.6098-22T>C (n.6098-22T>C)
c.6050-22T>C (n.6050-22T>C)
c.6017-22T>C (n.6017-22T>C)
c.5987-22T>C (n.5987-22T>C)
c.5984-22T>C (n.5984-22T>C)
c.5936-22T>C (n.5936-22T>C)
c.5900-22T>C (n.5900-22T>C)
c.5897-22T>C (n.5897-22T>C)
c.5852-22T>C (n.5852-22T>C)
n.6517-22T>C
 gnomAD v4
Xg.77574381C=CA2438951415ATRXc.6218-23G= (n.6218-23G=)
n.53-23G=
c.1316-23G= (n.1316-23G=)
c.6104-23G= (n.6104-23G=)
c.*5846-23G= (n.*5846-23G=)
c.702-23G=
n.3288-23G=
c.6215-23G= (n.6215-23G=)
c.6131-23G= (n.6131-23G=)
c.6101-23G= (n.6101-23G=)
c.6053-23G= (n.6053-23G=)
c.6014-23G= (n.6014-23G=)
c.5939-23G= (n.5939-23G=)
n.6560-23G=
c.6128-23G= (n.6128-23G=)
c.6098-23G= (n.6098-23G=)
c.6050-23G= (n.6050-23G=)
c.6017-23G= (n.6017-23G=)
c.5987-23G= (n.5987-23G=)
c.5984-23G= (n.5984-23G=)
c.5936-23G= (n.5936-23G=)
c.5900-23G= (n.5900-23G=)
c.5897-23G= (n.5897-23G=)
c.5852-23G= (n.5852-23G=)
n.6517-23G=
Xg.77574381C>TCA10457528ATRXc.6218-23G>A (n.6218-23G>A)
n.53-23G>A
c.1316-23G>A (n.1316-23G>A)
c.6104-23G>A (n.6104-23G>A)
c.*5846-23G>A (n.*5846-23G>A)
c.702-23G>A
n.3288-23G>A
c.6215-23G>A (n.6215-23G>A)
c.6131-23G>A (n.6131-23G>A)
c.6101-23G>A (n.6101-23G>A)
c.6053-23G>A (n.6053-23G>A)
c.6014-23G>A (n.6014-23G>A)
c.5939-23G>A (n.5939-23G>A)
n.6560-23G>A
c.6128-23G>A (n.6128-23G>A)
c.6098-23G>A (n.6098-23G>A)
c.6050-23G>A (n.6050-23G>A)
c.6017-23G>A (n.6017-23G>A)
c.5987-23G>A (n.5987-23G>A)
c.5984-23G>A (n.5984-23G>A)
c.5936-23G>A (n.5936-23G>A)
c.5900-23G>A (n.5900-23G>A)
c.5897-23G>A (n.5897-23G>A)
c.5852-23G>A (n.5852-23G>A)
n.6517-23G>A
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched