UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77574326A= | CA2438951401 | ATRX | c.6250T= (p.Tyr2084=) n.85T= c.1348T= (p.Tyr450=) c.6136T= (p.Tyr2046=) c.*5878T= (n.*5878T=) c.734T= n.3320T= c.6247T= (p.Tyr2083=) c.6163T= (p.Tyr2055=) c.6133T= (p.Tyr2045=) c.6085T= (p.Tyr2029=) c.6046T= (p.Tyr2016=) c.5971T= (p.Tyr1991=) n.6592T= c.6160T= (p.Tyr2054=) c.6130T= (p.Tyr2044=) c.6082T= (p.Tyr2028=) c.6049T= (p.Tyr2017=) c.6019T= (p.Tyr2007=) c.6016T= (p.Tyr2006=) c.5968T= (p.Tyr1990=) c.5932T= (p.Tyr1978=) c.5929T= (p.Tyr1977=) c.5884T= (p.Tyr1962=) n.6549T= | |
| X | g.77574326A>C | CA413701189 | ATRX | c.6250T>G (p.Tyr2084Asp) n.85T>G c.1348T>G (p.Tyr450Asp) c.6136T>G (p.Tyr2046Asp) c.*5878T>G (n.*5878T>G) c.734T>G n.3320T>G c.6247T>G (p.Tyr2083Asp) c.6163T>G (p.Tyr2055Asp) c.6133T>G (p.Tyr2045Asp) c.6085T>G (p.Tyr2029Asp) c.6046T>G (p.Tyr2016Asp) c.5971T>G (p.Tyr1991Asp) n.6592T>G c.6160T>G (p.Tyr2054Asp) c.6130T>G (p.Tyr2044Asp) c.6082T>G (p.Tyr2028Asp) c.6049T>G (p.Tyr2017Asp) c.6019T>G (p.Tyr2007Asp) c.6016T>G (p.Tyr2006Asp) c.5968T>G (p.Tyr1990Asp) c.5932T>G (p.Tyr1978Asp) c.5929T>G (p.Tyr1977Asp) c.5884T>G (p.Tyr1962Asp) n.6549T>G | |
| X | g.77574326A>G | CA256028 | ATRX | c.6250T>C (p.Tyr2084His) n.85T>C c.1348T>C (p.Tyr450His) c.6136T>C (p.Tyr2046His) c.*5878T>C (n.*5878T>C) c.734T>C n.3320T>C c.6247T>C (p.Tyr2083His) c.6163T>C (p.Tyr2055His) c.6133T>C (p.Tyr2045His) c.6085T>C (p.Tyr2029His) c.6046T>C (p.Tyr2016His) c.5971T>C (p.Tyr1991His) n.6592T>C c.6160T>C (p.Tyr2054His) c.6130T>C (p.Tyr2044His) c.6082T>C (p.Tyr2028His) c.6049T>C (p.Tyr2017His) c.6019T>C (p.Tyr2007His) c.6016T>C (p.Tyr2006His) c.5968T>C (p.Tyr1990His) c.5932T>C (p.Tyr1978His) c.5929T>C (p.Tyr1977His) c.5884T>C (p.Tyr1962His) n.6549T>C | ClinVar dbSNP |
| X | g.77574326A>T | CA413701193 | ATRX | c.6250T>A (p.Tyr2084Asn) n.85T>A c.1348T>A (p.Tyr450Asn) c.6136T>A (p.Tyr2046Asn) c.*5878T>A (n.*5878T>A) c.734T>A n.3320T>A c.6247T>A (p.Tyr2083Asn) c.6163T>A (p.Tyr2055Asn) c.6133T>A (p.Tyr2045Asn) c.6085T>A (p.Tyr2029Asn) c.6046T>A (p.Tyr2016Asn) c.5971T>A (p.Tyr1991Asn) n.6592T>A c.6160T>A (p.Tyr2054Asn) c.6130T>A (p.Tyr2044Asn) c.6082T>A (p.Tyr2028Asn) c.6049T>A (p.Tyr2017Asn) c.6019T>A (p.Tyr2007Asn) c.6016T>A (p.Tyr2006Asn) c.5968T>A (p.Tyr1990Asn) c.5932T>A (p.Tyr1978Asn) c.5929T>A (p.Tyr1977Asn) c.5884T>A (p.Tyr1962Asn) n.6549T>A | |
| X | g.77574327A= | CA2438951402 | ATRX | c.6249T= (p.Tyr2083=) n.84T= c.1347T= (p.Tyr449=) c.6135T= (p.Tyr2045=) c.*5877T= (n.*5877T=) c.733T= n.3319T= c.6246T= (p.Tyr2082=) c.6162T= (p.Tyr2054=) c.6132T= (p.Tyr2044=) c.6084T= (p.Tyr2028=) c.6045T= (p.Tyr2015=) c.5970T= (p.Tyr1990=) n.6591T= c.6159T= (p.Tyr2053=) c.6129T= (p.Tyr2043=) c.6081T= (p.Tyr2027=) c.6048T= (p.Tyr2016=) c.6018T= (p.Tyr2006=) c.6015T= (p.Tyr2005=) c.5967T= (p.Tyr1989=) c.5931T= (p.Tyr1977=) c.5928T= (p.Tyr1976=) c.5883T= (p.Tyr1961=) n.6548T= | |
| X | g.77574327A>C | CA413701196 | ATRX | c.6249T>G (p.Tyr2083Ter) n.84T>G c.1347T>G (p.Tyr449Ter) c.6135T>G (p.Tyr2045Ter) c.*5877T>G (n.*5877T>G) c.733T>G n.3319T>G c.6246T>G (p.Tyr2082Ter) c.6162T>G (p.Tyr2054Ter) c.6132T>G (p.Tyr2044Ter) c.6084T>G (p.Tyr2028Ter) c.6045T>G (p.Tyr2015Ter) c.5970T>G (p.Tyr1990Ter) n.6591T>G c.6159T>G (p.Tyr2053Ter) c.6129T>G (p.Tyr2043Ter) c.6081T>G (p.Tyr2027Ter) c.6048T>G (p.Tyr2016Ter) c.6018T>G (p.Tyr2006Ter) c.6015T>G (p.Tyr2005Ter) c.5967T>G (p.Tyr1989Ter) c.5931T>G (p.Tyr1977Ter) c.5928T>G (p.Tyr1976Ter) c.5883T>G (p.Tyr1961Ter) n.6548T>G | |
| X | g.77574327A>G | CA517374810 | ATRX | c.6249T>C (p.Tyr2083=) n.84T>C c.1347T>C (p.Tyr449=) c.6135T>C (p.Tyr2045=) c.*5877T>C (n.*5877T>C) c.733T>C n.3319T>C c.6246T>C (p.Tyr2082=) c.6162T>C (p.Tyr2054=) c.6132T>C (p.Tyr2044=) c.6084T>C (p.Tyr2028=) c.6045T>C (p.Tyr2015=) c.5970T>C (p.Tyr1990=) n.6591T>C c.6159T>C (p.Tyr2053=) c.6129T>C (p.Tyr2043=) c.6081T>C (p.Tyr2027=) c.6048T>C (p.Tyr2016=) c.6018T>C (p.Tyr2006=) c.6015T>C (p.Tyr2005=) c.5967T>C (p.Tyr1989=) c.5931T>C (p.Tyr1977=) c.5928T>C (p.Tyr1976=) c.5883T>C (p.Tyr1961=) n.6548T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.77574327A>T | CA413701198 | ATRX | c.6249T>A (p.Tyr2083Ter) n.84T>A c.1347T>A (p.Tyr449Ter) c.6135T>A (p.Tyr2045Ter) c.*5877T>A (n.*5877T>A) c.733T>A n.3319T>A c.6246T>A (p.Tyr2082Ter) c.6162T>A (p.Tyr2054Ter) c.6132T>A (p.Tyr2044Ter) c.6084T>A (p.Tyr2028Ter) c.6045T>A (p.Tyr2015Ter) c.5970T>A (p.Tyr1990Ter) n.6591T>A c.6159T>A (p.Tyr2053Ter) c.6129T>A (p.Tyr2043Ter) c.6081T>A (p.Tyr2027Ter) c.6048T>A (p.Tyr2016Ter) c.6018T>A (p.Tyr2006Ter) c.6015T>A (p.Tyr2005Ter) c.5967T>A (p.Tyr1989Ter) c.5931T>A (p.Tyr1977Ter) c.5928T>A (p.Tyr1976Ter) c.5883T>A (p.Tyr1961Ter) n.6548T>A | |
| X | g.77574328T>A | CA413701200 | ATRX | c.6248A>T (p.Tyr2083Phe) n.83A>T c.1346A>T (p.Tyr449Phe) c.6134A>T (p.Tyr2045Phe) c.*5876A>T (n.*5876A>T) c.732A>T n.3318A>T c.6245A>T (p.Tyr2082Phe) c.6161A>T (p.Tyr2054Phe) c.6131A>T (p.Tyr2044Phe) c.6083A>T (p.Tyr2028Phe) c.6044A>T (p.Tyr2015Phe) c.5969A>T (p.Tyr1990Phe) n.6590A>T c.6158A>T (p.Tyr2053Phe) c.6128A>T (p.Tyr2043Phe) c.6080A>T (p.Tyr2027Phe) c.6047A>T (p.Tyr2016Phe) c.6017A>T (p.Tyr2006Phe) c.6014A>T (p.Tyr2005Phe) c.5966A>T (p.Tyr1989Phe) c.5930A>T (p.Tyr1977Phe) c.5927A>T (p.Tyr1976Phe) c.5882A>T (p.Tyr1961Phe) n.6547A>T | |
| X | g.77574328T>C | CA413701209 | ATRX | c.6248A>G (p.Tyr2083Cys) n.83A>G c.1346A>G (p.Tyr449Cys) c.6134A>G (p.Tyr2045Cys) c.*5876A>G (n.*5876A>G) c.732A>G n.3318A>G c.6245A>G (p.Tyr2082Cys) c.6161A>G (p.Tyr2054Cys) c.6131A>G (p.Tyr2044Cys) c.6083A>G (p.Tyr2028Cys) c.6044A>G (p.Tyr2015Cys) c.5969A>G (p.Tyr1990Cys) n.6590A>G c.6158A>G (p.Tyr2053Cys) c.6128A>G (p.Tyr2043Cys) c.6080A>G (p.Tyr2027Cys) c.6047A>G (p.Tyr2016Cys) c.6017A>G (p.Tyr2006Cys) c.6014A>G (p.Tyr2005Cys) c.5966A>G (p.Tyr1989Cys) c.5930A>G (p.Tyr1977Cys) c.5927A>G (p.Tyr1976Cys) c.5882A>G (p.Tyr1961Cys) n.6547A>G | |
| X | g.77574328T>G | CA413701211 | ATRX | c.6248A>C (p.Tyr2083Ser) n.83A>C c.1346A>C (p.Tyr449Ser) c.6134A>C (p.Tyr2045Ser) c.*5876A>C (n.*5876A>C) c.732A>C n.3318A>C c.6245A>C (p.Tyr2082Ser) c.6161A>C (p.Tyr2054Ser) c.6131A>C (p.Tyr2044Ser) c.6083A>C (p.Tyr2028Ser) c.6044A>C (p.Tyr2015Ser) c.5969A>C (p.Tyr1990Ser) n.6590A>C c.6158A>C (p.Tyr2053Ser) c.6128A>C (p.Tyr2043Ser) c.6080A>C (p.Tyr2027Ser) c.6047A>C (p.Tyr2016Ser) c.6017A>C (p.Tyr2006Ser) c.6014A>C (p.Tyr2005Ser) c.5966A>C (p.Tyr1989Ser) c.5930A>C (p.Tyr1977Ser) c.5927A>C (p.Tyr1976Ser) c.5882A>C (p.Tyr1961Ser) n.6547A>C | |
| X | g.77574329A>C | CA413701213 | ATRX | c.6247T>G (p.Tyr2083Asp) n.82T>G c.1345T>G (p.Tyr449Asp) c.6133T>G (p.Tyr2045Asp) c.*5875T>G (n.*5875T>G) c.731T>G n.3317T>G c.6244T>G (p.Tyr2082Asp) c.6160T>G (p.Tyr2054Asp) c.6130T>G (p.Tyr2044Asp) c.6082T>G (p.Tyr2028Asp) c.6043T>G (p.Tyr2015Asp) c.5968T>G (p.Tyr1990Asp) n.6589T>G c.6157T>G (p.Tyr2053Asp) c.6127T>G (p.Tyr2043Asp) c.6079T>G (p.Tyr2027Asp) c.6046T>G (p.Tyr2016Asp) c.6016T>G (p.Tyr2006Asp) c.6013T>G (p.Tyr2005Asp) c.5965T>G (p.Tyr1989Asp) c.5929T>G (p.Tyr1977Asp) c.5926T>G (p.Tyr1976Asp) c.5881T>G (p.Tyr1961Asp) n.6546T>G | |
| X | g.77574329A>G | CA413701215 | ATRX | c.6247T>C (p.Tyr2083His) n.82T>C c.1345T>C (p.Tyr449His) c.6133T>C (p.Tyr2045His) c.*5875T>C (n.*5875T>C) c.731T>C n.3317T>C c.6244T>C (p.Tyr2082His) c.6160T>C (p.Tyr2054His) c.6130T>C (p.Tyr2044His) c.6082T>C (p.Tyr2028His) c.6043T>C (p.Tyr2015His) c.5968T>C (p.Tyr1990His) n.6589T>C c.6157T>C (p.Tyr2053His) c.6127T>C (p.Tyr2043His) c.6079T>C (p.Tyr2027His) c.6046T>C (p.Tyr2016His) c.6016T>C (p.Tyr2006His) c.6013T>C (p.Tyr2005His) c.5965T>C (p.Tyr1989His) c.5929T>C (p.Tyr1977His) c.5926T>C (p.Tyr1976His) c.5881T>C (p.Tyr1961His) n.6546T>C | |
| X | g.77574329A>T | CA413701217 | ATRX | c.6247T>A (p.Tyr2083Asn) n.82T>A c.1345T>A (p.Tyr449Asn) c.6133T>A (p.Tyr2045Asn) c.*5875T>A (n.*5875T>A) c.731T>A n.3317T>A c.6244T>A (p.Tyr2082Asn) c.6160T>A (p.Tyr2054Asn) c.6130T>A (p.Tyr2044Asn) c.6082T>A (p.Tyr2028Asn) c.6043T>A (p.Tyr2015Asn) c.5968T>A (p.Tyr1990Asn) n.6589T>A c.6157T>A (p.Tyr2053Asn) c.6127T>A (p.Tyr2043Asn) c.6079T>A (p.Tyr2027Asn) c.6046T>A (p.Tyr2016Asn) c.6016T>A (p.Tyr2006Asn) c.6013T>A (p.Tyr2005Asn) c.5965T>A (p.Tyr1989Asn) c.5929T>A (p.Tyr1977Asn) c.5926T>A (p.Tyr1976Asn) c.5881T>A (p.Tyr1961Asn) n.6546T>A | |
| X | g.77574330G>A | CA517374812 | ATRX | c.6246C>T (p.Asp2082=) n.81C>T c.1344C>T (p.Asp448=) c.6132C>T (p.Asp2044=) c.*5874C>T (n.*5874C>T) c.730C>T n.3316C>T c.6243C>T (p.Asp2081=) c.6159C>T (p.Asp2053=) c.6129C>T (p.Asp2043=) c.6081C>T (p.Asp2027=) c.6042C>T (p.Asp2014=) c.5967C>T (p.Asp1989=) n.6588C>T c.6156C>T (p.Asp2052=) c.6126C>T (p.Asp2042=) c.6078C>T (p.Asp2026=) c.6045C>T (p.Asp2015=) c.6015C>T (p.Asp2005=) c.6012C>T (p.Asp2004=) c.5964C>T (p.Asp1988=) c.5928C>T (p.Asp1976=) c.5925C>T (p.Asp1975=) c.5880C>T (p.Asp1960=) n.6545C>T | |
| X | g.77574330G>C | CA413701219 | ATRX | c.6246C>G (p.Asp2082Glu) n.81C>G c.1344C>G (p.Asp448Glu) c.6132C>G (p.Asp2044Glu) c.*5874C>G (n.*5874C>G) c.730C>G n.3316C>G c.6243C>G (p.Asp2081Glu) c.6159C>G (p.Asp2053Glu) c.6129C>G (p.Asp2043Glu) c.6081C>G (p.Asp2027Glu) c.6042C>G (p.Asp2014Glu) c.5967C>G (p.Asp1989Glu) n.6588C>G c.6156C>G (p.Asp2052Glu) c.6126C>G (p.Asp2042Glu) c.6078C>G (p.Asp2026Glu) c.6045C>G (p.Asp2015Glu) c.6015C>G (p.Asp2005Glu) c.6012C>G (p.Asp2004Glu) c.5964C>G (p.Asp1988Glu) c.5928C>G (p.Asp1976Glu) c.5925C>G (p.Asp1975Glu) c.5880C>G (p.Asp1960Glu) n.6545C>G | |
| X | g.77574330G>T | CA413701220 | ATRX | c.6246C>A (p.Asp2082Glu) n.81C>A c.1344C>A (p.Asp448Glu) c.6132C>A (p.Asp2044Glu) c.*5874C>A (n.*5874C>A) c.730C>A n.3316C>A c.6243C>A (p.Asp2081Glu) c.6159C>A (p.Asp2053Glu) c.6129C>A (p.Asp2043Glu) c.6081C>A (p.Asp2027Glu) c.6042C>A (p.Asp2014Glu) c.5967C>A (p.Asp1989Glu) n.6588C>A c.6156C>A (p.Asp2052Glu) c.6126C>A (p.Asp2042Glu) c.6078C>A (p.Asp2026Glu) c.6045C>A (p.Asp2015Glu) c.6015C>A (p.Asp2005Glu) c.6012C>A (p.Asp2004Glu) c.5964C>A (p.Asp1988Glu) c.5928C>A (p.Asp1976Glu) c.5925C>A (p.Asp1975Glu) c.5880C>A (p.Asp1960Glu) n.6545C>A | |
| X | g.77574331T>A | CA413701228 | ATRX | c.6245A>T (p.Asp2082Val) n.80A>T c.1343A>T (p.Asp448Val) c.6131A>T (p.Asp2044Val) c.*5873A>T (n.*5873A>T) c.729A>T n.3315A>T c.6242A>T (p.Asp2081Val) c.6158A>T (p.Asp2053Val) c.6128A>T (p.Asp2043Val) c.6080A>T (p.Asp2027Val) c.6041A>T (p.Asp2014Val) c.5966A>T (p.Asp1989Val) n.6587A>T c.6155A>T (p.Asp2052Val) c.6125A>T (p.Asp2042Val) c.6077A>T (p.Asp2026Val) c.6044A>T (p.Asp2015Val) c.6014A>T (p.Asp2005Val) c.6011A>T (p.Asp2004Val) c.5963A>T (p.Asp1988Val) c.5927A>T (p.Asp1976Val) c.5924A>T (p.Asp1975Val) c.5879A>T (p.Asp1960Val) n.6544A>T | |
| X | g.77574331T>C | CA413701229 | ATRX | c.6245A>G (p.Asp2082Gly) n.80A>G c.1343A>G (p.Asp448Gly) c.6131A>G (p.Asp2044Gly) c.*5873A>G (n.*5873A>G) c.729A>G n.3315A>G c.6242A>G (p.Asp2081Gly) c.6158A>G (p.Asp2053Gly) c.6128A>G (p.Asp2043Gly) c.6080A>G (p.Asp2027Gly) c.6041A>G (p.Asp2014Gly) c.5966A>G (p.Asp1989Gly) n.6587A>G c.6155A>G (p.Asp2052Gly) c.6125A>G (p.Asp2042Gly) c.6077A>G (p.Asp2026Gly) c.6044A>G (p.Asp2015Gly) c.6014A>G (p.Asp2005Gly) c.6011A>G (p.Asp2004Gly) c.5963A>G (p.Asp1988Gly) c.5927A>G (p.Asp1976Gly) c.5924A>G (p.Asp1975Gly) c.5879A>G (p.Asp1960Gly) n.6544A>G | |
| X | g.77574331T>G | CA413701227 | ATRX | c.6245A>C (p.Asp2082Ala) n.80A>C c.1343A>C (p.Asp448Ala) c.6131A>C (p.Asp2044Ala) c.*5873A>C (n.*5873A>C) c.729A>C n.3315A>C c.6242A>C (p.Asp2081Ala) c.6158A>C (p.Asp2053Ala) c.6128A>C (p.Asp2043Ala) c.6080A>C (p.Asp2027Ala) c.6041A>C (p.Asp2014Ala) c.5966A>C (p.Asp1989Ala) n.6587A>C c.6155A>C (p.Asp2052Ala) c.6125A>C (p.Asp2042Ala) c.6077A>C (p.Asp2026Ala) c.6044A>C (p.Asp2015Ala) c.6014A>C (p.Asp2005Ala) c.6011A>C (p.Asp2004Ala) c.5963A>C (p.Asp1988Ala) c.5927A>C (p.Asp1976Ala) c.5924A>C (p.Asp1975Ala) c.5879A>C (p.Asp1960Ala) n.6544A>C | |
| X | g.77574332C>A | CA413701230 | ATRX | c.6244G>T (p.Asp2082Tyr) n.79G>T c.1342G>T (p.Asp448Tyr) c.6130G>T (p.Asp2044Tyr) c.*5872G>T (n.*5872G>T) c.728G>T n.3314G>T c.6241G>T (p.Asp2081Tyr) c.6157G>T (p.Asp2053Tyr) c.6127G>T (p.Asp2043Tyr) c.6079G>T (p.Asp2027Tyr) c.6040G>T (p.Asp2014Tyr) c.5965G>T (p.Asp1989Tyr) n.6586G>T c.6154G>T (p.Asp2052Tyr) c.6124G>T (p.Asp2042Tyr) c.6076G>T (p.Asp2026Tyr) c.6043G>T (p.Asp2015Tyr) c.6013G>T (p.Asp2005Tyr) c.6010G>T (p.Asp2004Tyr) c.5962G>T (p.Asp1988Tyr) c.5926G>T (p.Asp1976Tyr) c.5923G>T (p.Asp1975Tyr) c.5878G>T (p.Asp1960Tyr) n.6543G>T | |
| X | g.77574332C>G | CA413701231 | ATRX | c.6244G>C (p.Asp2082His) n.79G>C c.1342G>C (p.Asp448His) c.6130G>C (p.Asp2044His) c.*5872G>C (n.*5872G>C) c.728G>C n.3314G>C c.6241G>C (p.Asp2081His) c.6157G>C (p.Asp2053His) c.6127G>C (p.Asp2043His) c.6079G>C (p.Asp2027His) c.6040G>C (p.Asp2014His) c.5965G>C (p.Asp1989His) n.6586G>C c.6154G>C (p.Asp2052His) c.6124G>C (p.Asp2042His) c.6076G>C (p.Asp2026His) c.6043G>C (p.Asp2015His) c.6013G>C (p.Asp2005His) c.6010G>C (p.Asp2004His) c.5962G>C (p.Asp1988His) c.5926G>C (p.Asp1976His) c.5923G>C (p.Asp1975His) c.5878G>C (p.Asp1960His) n.6543G>C | |
| X | g.77574332C>T | CA413701232 | ATRX | c.6244G>A (p.Asp2082Asn) n.79G>A c.1342G>A (p.Asp448Asn) c.6130G>A (p.Asp2044Asn) c.*5872G>A (n.*5872G>A) c.728G>A n.3314G>A c.6241G>A (p.Asp2081Asn) c.6157G>A (p.Asp2053Asn) c.6127G>A (p.Asp2043Asn) c.6079G>A (p.Asp2027Asn) c.6040G>A (p.Asp2014Asn) c.5965G>A (p.Asp1989Asn) n.6586G>A c.6154G>A (p.Asp2052Asn) c.6124G>A (p.Asp2042Asn) c.6076G>A (p.Asp2026Asn) c.6043G>A (p.Asp2015Asn) c.6013G>A (p.Asp2005Asn) c.6010G>A (p.Asp2004Asn) c.5962G>A (p.Asp1988Asn) c.5926G>A (p.Asp1976Asn) c.5923G>A (p.Asp1975Asn) c.5878G>A (p.Asp1960Asn) n.6543G>A | |
| X | g.77574333A>C | CA413701233 | ATRX | c.6243T>G (p.Ile2081Met) n.78T>G c.1341T>G (p.Ile447Met) c.6129T>G (p.Ile2043Met) c.*5871T>G (n.*5871T>G) c.727T>G n.3313T>G c.6240T>G (p.Ile2080Met) c.6156T>G (p.Ile2052Met) c.6126T>G (p.Ile2042Met) c.6078T>G (p.Ile2026Met) c.6039T>G (p.Ile2013Met) c.5964T>G (p.Ile1988Met) n.6585T>G c.6153T>G (p.Ile2051Met) c.6123T>G (p.Ile2041Met) c.6075T>G (p.Ile2025Met) c.6042T>G (p.Ile2014Met) c.6012T>G (p.Ile2004Met) c.6009T>G (p.Ile2003Met) c.5961T>G (p.Ile1987Met) c.5925T>G (p.Ile1975Met) c.5922T>G (p.Ile1974Met) c.5877T>G (p.Ile1959Met) n.6542T>G | |
| X | g.77574333A>G | CA517374817 | ATRX | c.6243T>C (p.Ile2081=) n.78T>C c.1341T>C (p.Ile447=) c.6129T>C (p.Ile2043=) c.*5871T>C (n.*5871T>C) c.727T>C n.3313T>C c.6240T>C (p.Ile2080=) c.6156T>C (p.Ile2052=) c.6126T>C (p.Ile2042=) c.6078T>C (p.Ile2026=) c.6039T>C (p.Ile2013=) c.5964T>C (p.Ile1988=) n.6585T>C c.6153T>C (p.Ile2051=) c.6123T>C (p.Ile2041=) c.6075T>C (p.Ile2025=) c.6042T>C (p.Ile2014=) c.6012T>C (p.Ile2004=) c.6009T>C (p.Ile2003=) c.5961T>C (p.Ile1987=) c.5925T>C (p.Ile1975=) c.5922T>C (p.Ile1974=) c.5877T>C (p.Ile1959=) n.6542T>C | gnomAD v4 |
| X | g.77574333A>T | CA517374818 | ATRX | c.6243T>A (p.Ile2081=) n.78T>A c.1341T>A (p.Ile447=) c.6129T>A (p.Ile2043=) c.*5871T>A (n.*5871T>A) c.727T>A n.3313T>A c.6240T>A (p.Ile2080=) c.6156T>A (p.Ile2052=) c.6126T>A (p.Ile2042=) c.6078T>A (p.Ile2026=) c.6039T>A (p.Ile2013=) c.5964T>A (p.Ile1988=) n.6585T>A c.6153T>A (p.Ile2051=) c.6123T>A (p.Ile2041=) c.6075T>A (p.Ile2025=) c.6042T>A (p.Ile2014=) c.6012T>A (p.Ile2004=) c.6009T>A (p.Ile2003=) c.5961T>A (p.Ile1987=) c.5925T>A (p.Ile1975=) c.5922T>A (p.Ile1974=) c.5877T>A (p.Ile1959=) n.6542T>A | ClinVar dbSNP gnomAD v4 |
| X | g.77574334A>C | CA413701234 | ATRX | c.6242T>G (p.Ile2081Ser) n.77T>G c.1340T>G (p.Ile447Ser) c.6128T>G (p.Ile2043Ser) c.*5870T>G (n.*5870T>G) c.726T>G n.3312T>G c.6239T>G (p.Ile2080Ser) c.6155T>G (p.Ile2052Ser) c.6125T>G (p.Ile2042Ser) c.6077T>G (p.Ile2026Ser) c.6038T>G (p.Ile2013Ser) c.5963T>G (p.Ile1988Ser) n.6584T>G c.6152T>G (p.Ile2051Ser) c.6122T>G (p.Ile2041Ser) c.6074T>G (p.Ile2025Ser) c.6041T>G (p.Ile2014Ser) c.6011T>G (p.Ile2004Ser) c.6008T>G (p.Ile2003Ser) c.5960T>G (p.Ile1987Ser) c.5924T>G (p.Ile1975Ser) c.5921T>G (p.Ile1974Ser) c.5876T>G (p.Ile1959Ser) n.6541T>G | |
| X | g.77574334A>G | CA413701235 | ATRX | c.6242T>C (p.Ile2081Thr) n.77T>C c.1340T>C (p.Ile447Thr) c.6128T>C (p.Ile2043Thr) c.*5870T>C (n.*5870T>C) c.726T>C n.3312T>C c.6239T>C (p.Ile2080Thr) c.6155T>C (p.Ile2052Thr) c.6125T>C (p.Ile2042Thr) c.6077T>C (p.Ile2026Thr) c.6038T>C (p.Ile2013Thr) c.5963T>C (p.Ile1988Thr) n.6584T>C c.6152T>C (p.Ile2051Thr) c.6122T>C (p.Ile2041Thr) c.6074T>C (p.Ile2025Thr) c.6041T>C (p.Ile2014Thr) c.6011T>C (p.Ile2004Thr) c.6008T>C (p.Ile2003Thr) c.5960T>C (p.Ile1987Thr) c.5924T>C (p.Ile1975Thr) c.5921T>C (p.Ile1974Thr) c.5876T>C (p.Ile1959Thr) n.6541T>C | |
| X | g.77574334A>T | CA413701236 | ATRX | c.6242T>A (p.Ile2081Asn) n.77T>A c.1340T>A (p.Ile447Asn) c.6128T>A (p.Ile2043Asn) c.*5870T>A (n.*5870T>A) c.726T>A n.3312T>A c.6239T>A (p.Ile2080Asn) c.6155T>A (p.Ile2052Asn) c.6125T>A (p.Ile2042Asn) c.6077T>A (p.Ile2026Asn) c.6038T>A (p.Ile2013Asn) c.5963T>A (p.Ile1988Asn) n.6584T>A c.6152T>A (p.Ile2051Asn) c.6122T>A (p.Ile2041Asn) c.6074T>A (p.Ile2025Asn) c.6041T>A (p.Ile2014Asn) c.6011T>A (p.Ile2004Asn) c.6008T>A (p.Ile2003Asn) c.5960T>A (p.Ile1987Asn) c.5924T>A (p.Ile1975Asn) c.5921T>A (p.Ile1974Asn) c.5876T>A (p.Ile1959Asn) n.6541T>A | |
| X | g.77574335T>A | CA413701237 | ATRX | c.6241A>T (p.Ile2081Phe) n.76A>T c.1339A>T (p.Ile447Phe) c.6127A>T (p.Ile2043Phe) c.*5869A>T (n.*5869A>T) c.725A>T n.3311A>T c.6238A>T (p.Ile2080Phe) c.6154A>T (p.Ile2052Phe) c.6124A>T (p.Ile2042Phe) c.6076A>T (p.Ile2026Phe) c.6037A>T (p.Ile2013Phe) c.5962A>T (p.Ile1988Phe) n.6583A>T c.6151A>T (p.Ile2051Phe) c.6121A>T (p.Ile2041Phe) c.6073A>T (p.Ile2025Phe) c.6040A>T (p.Ile2014Phe) c.6010A>T (p.Ile2004Phe) c.6007A>T (p.Ile2003Phe) c.5959A>T (p.Ile1987Phe) c.5923A>T (p.Ile1975Phe) c.5920A>T (p.Ile1974Phe) c.5875A>T (p.Ile1959Phe) n.6540A>T | ClinVar |
| X | g.77574335T>C | CA413701238 | ATRX | c.6241A>G (p.Ile2081Val) n.76A>G c.1339A>G (p.Ile447Val) c.6127A>G (p.Ile2043Val) c.*5869A>G (n.*5869A>G) c.725A>G n.3311A>G c.6238A>G (p.Ile2080Val) c.6154A>G (p.Ile2052Val) c.6124A>G (p.Ile2042Val) c.6076A>G (p.Ile2026Val) c.6037A>G (p.Ile2013Val) c.5962A>G (p.Ile1988Val) n.6583A>G c.6151A>G (p.Ile2051Val) c.6121A>G (p.Ile2041Val) c.6073A>G (p.Ile2025Val) c.6040A>G (p.Ile2014Val) c.6010A>G (p.Ile2004Val) c.6007A>G (p.Ile2003Val) c.5959A>G (p.Ile1987Val) c.5923A>G (p.Ile1975Val) c.5920A>G (p.Ile1974Val) c.5875A>G (p.Ile1959Val) n.6540A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.77574335T>G | CA413701239 | ATRX | c.6241A>C (p.Ile2081Leu) n.76A>C c.1339A>C (p.Ile447Leu) c.6127A>C (p.Ile2043Leu) c.*5869A>C (n.*5869A>C) c.725A>C n.3311A>C c.6238A>C (p.Ile2080Leu) c.6154A>C (p.Ile2052Leu) c.6124A>C (p.Ile2042Leu) c.6076A>C (p.Ile2026Leu) c.6037A>C (p.Ile2013Leu) c.5962A>C (p.Ile1988Leu) n.6583A>C c.6151A>C (p.Ile2051Leu) c.6121A>C (p.Ile2041Leu) c.6073A>C (p.Ile2025Leu) c.6040A>C (p.Ile2014Leu) c.6010A>C (p.Ile2004Leu) c.6007A>C (p.Ile2003Leu) c.5959A>C (p.Ile1987Leu) c.5923A>C (p.Ile1975Leu) c.5920A>C (p.Ile1974Leu) c.5875A>C (p.Ile1959Leu) n.6540A>C | |
| X | g.77574335T= | CA2438951403 | ATRX | c.6241A= (p.Ile2081=) n.76A= c.1339A= (p.Ile447=) c.6127A= (p.Ile2043=) c.*5869A= (n.*5869A=) c.725A= n.3311A= c.6238A= (p.Ile2080=) c.6154A= (p.Ile2052=) c.6124A= (p.Ile2042=) c.6076A= (p.Ile2026=) c.6037A= (p.Ile2013=) c.5962A= (p.Ile1988=) n.6583A= c.6151A= (p.Ile2051=) c.6121A= (p.Ile2041=) c.6073A= (p.Ile2025=) c.6040A= (p.Ile2014=) c.6010A= (p.Ile2004=) c.6007A= (p.Ile2003=) c.5959A= (p.Ile1987=) c.5923A= (p.Ile1975=) c.5920A= (p.Ile1974=) c.5875A= (p.Ile1959=) n.6540A= | |
| X | g.77574336G>A | CA517374819 | ATRX | c.6240C>T (p.Asn2080=) n.75C>T c.1338C>T (p.Asn446=) c.6126C>T (p.Asn2042=) c.*5868C>T (n.*5868C>T) c.724C>T n.3310C>T c.6237C>T (p.Asn2079=) c.6153C>T (p.Asn2051=) c.6123C>T (p.Asn2041=) c.6075C>T (p.Asn2025=) c.6036C>T (p.Asn2012=) c.5961C>T (p.Asn1987=) n.6582C>T c.6150C>T (p.Asn2050=) c.6120C>T (p.Asn2040=) c.6072C>T (p.Asn2024=) c.6039C>T (p.Asn2013=) c.6009C>T (p.Asn2003=) c.6006C>T (p.Asn2002=) c.5958C>T (p.Asn1986=) c.5922C>T (p.Asn1974=) c.5919C>T (p.Asn1973=) c.5874C>T (p.Asn1958=) n.6539C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.77574336G>C | CA413701240 | ATRX | c.6240C>G (p.Asn2080Lys) n.75C>G c.1338C>G (p.Asn446Lys) c.6126C>G (p.Asn2042Lys) c.*5868C>G (n.*5868C>G) c.724C>G n.3310C>G c.6237C>G (p.Asn2079Lys) c.6153C>G (p.Asn2051Lys) c.6123C>G (p.Asn2041Lys) c.6075C>G (p.Asn2025Lys) c.6036C>G (p.Asn2012Lys) c.5961C>G (p.Asn1987Lys) n.6582C>G c.6150C>G (p.Asn2050Lys) c.6120C>G (p.Asn2040Lys) c.6072C>G (p.Asn2024Lys) c.6039C>G (p.Asn2013Lys) c.6009C>G (p.Asn2003Lys) c.6006C>G (p.Asn2002Lys) c.5958C>G (p.Asn1986Lys) c.5922C>G (p.Asn1974Lys) c.5919C>G (p.Asn1973Lys) c.5874C>G (p.Asn1958Lys) n.6539C>G | |
| X | g.77574336G= | CA2438951404 | ATRX | c.6240C= (p.Asn2080=) n.75C= c.1338C= (p.Asn446=) c.6126C= (p.Asn2042=) c.*5868C= (n.*5868C=) c.724C= n.3310C= c.6237C= (p.Asn2079=) c.6153C= (p.Asn2051=) c.6123C= (p.Asn2041=) c.6075C= (p.Asn2025=) c.6036C= (p.Asn2012=) c.5961C= (p.Asn1987=) n.6582C= c.6150C= (p.Asn2050=) c.6120C= (p.Asn2040=) c.6072C= (p.Asn2024=) c.6039C= (p.Asn2013=) c.6009C= (p.Asn2003=) c.6006C= (p.Asn2002=) c.5958C= (p.Asn1986=) c.5922C= (p.Asn1974=) c.5919C= (p.Asn1973=) c.5874C= (p.Asn1958=) n.6539C= | |
| X | g.77574336G>T | CA413701241 | ATRX | c.6240C>A (p.Asn2080Lys) n.75C>A c.1338C>A (p.Asn446Lys) c.6126C>A (p.Asn2042Lys) c.*5868C>A (n.*5868C>A) c.724C>A n.3310C>A c.6237C>A (p.Asn2079Lys) c.6153C>A (p.Asn2051Lys) c.6123C>A (p.Asn2041Lys) c.6075C>A (p.Asn2025Lys) c.6036C>A (p.Asn2012Lys) c.5961C>A (p.Asn1987Lys) n.6582C>A c.6150C>A (p.Asn2050Lys) c.6120C>A (p.Asn2040Lys) c.6072C>A (p.Asn2024Lys) c.6039C>A (p.Asn2013Lys) c.6009C>A (p.Asn2003Lys) c.6006C>A (p.Asn2002Lys) c.5958C>A (p.Asn1986Lys) c.5922C>A (p.Asn1974Lys) c.5919C>A (p.Asn1973Lys) c.5874C>A (p.Asn1958Lys) n.6539C>A | |
| X | g.77574337T>A | CA413701244 | ATRX | c.6239A>T (p.Asn2080Ile) n.74A>T c.1337A>T (p.Asn446Ile) c.6125A>T (p.Asn2042Ile) c.*5867A>T (n.*5867A>T) c.723A>T n.3309A>T c.6236A>T (p.Asn2079Ile) c.6152A>T (p.Asn2051Ile) c.6122A>T (p.Asn2041Ile) c.6074A>T (p.Asn2025Ile) c.6035A>T (p.Asn2012Ile) c.5960A>T (p.Asn1987Ile) n.6581A>T c.6149A>T (p.Asn2050Ile) c.6119A>T (p.Asn2040Ile) c.6071A>T (p.Asn2024Ile) c.6038A>T (p.Asn2013Ile) c.6008A>T (p.Asn2003Ile) c.6005A>T (p.Asn2002Ile) c.5957A>T (p.Asn1986Ile) c.5921A>T (p.Asn1974Ile) c.5918A>T (p.Asn1973Ile) c.5873A>T (p.Asn1958Ile) n.6538A>T | |
| X | g.77574337T>C | CA413701242 | ATRX | c.6239A>G (p.Asn2080Ser) n.74A>G c.1337A>G (p.Asn446Ser) c.6125A>G (p.Asn2042Ser) c.*5867A>G (n.*5867A>G) c.723A>G n.3309A>G c.6236A>G (p.Asn2079Ser) c.6152A>G (p.Asn2051Ser) c.6122A>G (p.Asn2041Ser) c.6074A>G (p.Asn2025Ser) c.6035A>G (p.Asn2012Ser) c.5960A>G (p.Asn1987Ser) n.6581A>G c.6149A>G (p.Asn2050Ser) c.6119A>G (p.Asn2040Ser) c.6071A>G (p.Asn2024Ser) c.6038A>G (p.Asn2013Ser) c.6008A>G (p.Asn2003Ser) c.6005A>G (p.Asn2002Ser) c.5957A>G (p.Asn1986Ser) c.5921A>G (p.Asn1974Ser) c.5918A>G (p.Asn1973Ser) c.5873A>G (p.Asn1958Ser) n.6538A>G | |
| X | g.77574337T>G | CA413701243 | ATRX | c.6239A>C (p.Asn2080Thr) n.74A>C c.1337A>C (p.Asn446Thr) c.6125A>C (p.Asn2042Thr) c.*5867A>C (n.*5867A>C) c.723A>C n.3309A>C c.6236A>C (p.Asn2079Thr) c.6152A>C (p.Asn2051Thr) c.6122A>C (p.Asn2041Thr) c.6074A>C (p.Asn2025Thr) c.6035A>C (p.Asn2012Thr) c.5960A>C (p.Asn1987Thr) n.6581A>C c.6149A>C (p.Asn2050Thr) c.6119A>C (p.Asn2040Thr) c.6071A>C (p.Asn2024Thr) c.6038A>C (p.Asn2013Thr) c.6008A>C (p.Asn2003Thr) c.6005A>C (p.Asn2002Thr) c.5957A>C (p.Asn1986Thr) c.5921A>C (p.Asn1974Thr) c.5918A>C (p.Asn1973Thr) c.5873A>C (p.Asn1958Thr) n.6538A>C | |
| X | g.77574338T>A | CA413701245 | ATRX | c.6238A>T (p.Asn2080Tyr) n.73A>T c.1336A>T (p.Asn446Tyr) c.6124A>T (p.Asn2042Tyr) c.*5866A>T (n.*5866A>T) c.722A>T n.3308A>T c.6235A>T (p.Asn2079Tyr) c.6151A>T (p.Asn2051Tyr) c.6121A>T (p.Asn2041Tyr) c.6073A>T (p.Asn2025Tyr) c.6034A>T (p.Asn2012Tyr) c.5959A>T (p.Asn1987Tyr) n.6580A>T c.6148A>T (p.Asn2050Tyr) c.6118A>T (p.Asn2040Tyr) c.6070A>T (p.Asn2024Tyr) c.6037A>T (p.Asn2013Tyr) c.6007A>T (p.Asn2003Tyr) c.6004A>T (p.Asn2002Tyr) c.5956A>T (p.Asn1986Tyr) c.5920A>T (p.Asn1974Tyr) c.5917A>T (p.Asn1973Tyr) c.5872A>T (p.Asn1958Tyr) n.6537A>T | |
| X | g.77574338T>C | CA413701246 | ATRX | c.6238A>G (p.Asn2080Asp) n.73A>G c.1336A>G (p.Asn446Asp) c.6124A>G (p.Asn2042Asp) c.*5866A>G (n.*5866A>G) c.722A>G n.3308A>G c.6235A>G (p.Asn2079Asp) c.6151A>G (p.Asn2051Asp) c.6121A>G (p.Asn2041Asp) c.6073A>G (p.Asn2025Asp) c.6034A>G (p.Asn2012Asp) c.5959A>G (p.Asn1987Asp) n.6580A>G c.6148A>G (p.Asn2050Asp) c.6118A>G (p.Asn2040Asp) c.6070A>G (p.Asn2024Asp) c.6037A>G (p.Asn2013Asp) c.6007A>G (p.Asn2003Asp) c.6004A>G (p.Asn2002Asp) c.5956A>G (p.Asn1986Asp) c.5920A>G (p.Asn1974Asp) c.5917A>G (p.Asn1973Asp) c.5872A>G (p.Asn1958Asp) n.6537A>G | |
| X | g.77574338T>G | CA413701247 | ATRX | c.6238A>C (p.Asn2080His) n.73A>C c.1336A>C (p.Asn446His) c.6124A>C (p.Asn2042His) c.*5866A>C (n.*5866A>C) c.722A>C n.3308A>C c.6235A>C (p.Asn2079His) c.6151A>C (p.Asn2051His) c.6121A>C (p.Asn2041His) c.6073A>C (p.Asn2025His) c.6034A>C (p.Asn2012His) c.5959A>C (p.Asn1987His) n.6580A>C c.6148A>C (p.Asn2050His) c.6118A>C (p.Asn2040His) c.6070A>C (p.Asn2024His) c.6037A>C (p.Asn2013His) c.6007A>C (p.Asn2003His) c.6004A>C (p.Asn2002His) c.5956A>C (p.Asn1986His) c.5920A>C (p.Asn1974His) c.5917A>C (p.Asn1973His) c.5872A>C (p.Asn1958His) n.6537A>C | |
| X | g.77574339T>A | CA517374828 | ATRX | c.6237A>T (p.Arg2079=) n.72A>T c.1335A>T (p.Arg445=) c.6123A>T (p.Arg2041=) c.*5865A>T (n.*5865A>T) c.721A>T n.3307A>T c.6234A>T (p.Arg2078=) c.6150A>T (p.Arg2050=) c.6120A>T (p.Arg2040=) c.6072A>T (p.Arg2024=) c.6033A>T (p.Arg2011=) c.5958A>T (p.Arg1986=) n.6579A>T c.6147A>T (p.Arg2049=) c.6117A>T (p.Arg2039=) c.6069A>T (p.Arg2023=) c.6036A>T (p.Arg2012=) c.6006A>T (p.Arg2002=) c.6003A>T (p.Arg2001=) c.5955A>T (p.Arg1985=) c.5919A>T (p.Arg1973=) c.5916A>T (p.Arg1972=) c.5871A>T (p.Arg1957=) n.6536A>T | |
| X | g.77574339T>C | CA517374827 | ATRX | c.6237A>G (p.Arg2079=) n.72A>G c.1335A>G (p.Arg445=) c.6123A>G (p.Arg2041=) c.*5865A>G (n.*5865A>G) c.721A>G n.3307A>G c.6234A>G (p.Arg2078=) c.6150A>G (p.Arg2050=) c.6120A>G (p.Arg2040=) c.6072A>G (p.Arg2024=) c.6033A>G (p.Arg2011=) c.5958A>G (p.Arg1986=) n.6579A>G c.6147A>G (p.Arg2049=) c.6117A>G (p.Arg2039=) c.6069A>G (p.Arg2023=) c.6036A>G (p.Arg2012=) c.6006A>G (p.Arg2002=) c.6003A>G (p.Arg2001=) c.5955A>G (p.Arg1985=) c.5919A>G (p.Arg1973=) c.5916A>G (p.Arg1972=) c.5871A>G (p.Arg1957=) n.6536A>G | |
| X | g.77574339T>G | CA517374826 | ATRX | c.6237A>C (p.Arg2079=) n.72A>C c.1335A>C (p.Arg445=) c.6123A>C (p.Arg2041=) c.*5865A>C (n.*5865A>C) c.721A>C n.3307A>C c.6234A>C (p.Arg2078=) c.6150A>C (p.Arg2050=) c.6120A>C (p.Arg2040=) c.6072A>C (p.Arg2024=) c.6033A>C (p.Arg2011=) c.5958A>C (p.Arg1986=) n.6579A>C c.6147A>C (p.Arg2049=) c.6117A>C (p.Arg2039=) c.6069A>C (p.Arg2023=) c.6036A>C (p.Arg2012=) c.6006A>C (p.Arg2002=) c.6003A>C (p.Arg2001=) c.5955A>C (p.Arg1985=) c.5919A>C (p.Arg1973=) c.5916A>C (p.Arg1972=) c.5871A>C (p.Arg1957=) n.6536A>C | |
| X | g.77574340del | CA2579648816 | ATRX | c.6236del (p.Arg2079GlnfsTer8) n.71del c.1334del (p.Arg445GlnfsTer8) c.6122del (p.Arg2041GlnfsTer8) c.*5864del (n.*5864del) c.720del n.3306del c.6233del (p.Arg2078GlnfsTer8) c.6149del (p.Arg2050GlnfsTer8) c.6119del (p.Arg2040GlnfsTer8) c.6071del (p.Arg2024GlnfsTer8) c.6032del (p.Arg2011GlnfsTer8) c.5957del (p.Arg1986GlnfsTer8) n.6578del c.6146del (p.Arg2049GlnfsTer8) c.6116del (p.Arg2039GlnfsTer8) c.6068del (p.Arg2023GlnfsTer8) c.6035del (p.Arg2012GlnfsTer8) c.6005del (p.Arg2002GlnfsTer8) c.6002del (p.Arg2001GlnfsTer8) c.5954del (p.Arg1985GlnfsTer8) c.5918del (p.Arg1973GlnfsTer8) c.5915del (p.Arg1972GlnfsTer8) c.5870del (p.Arg1957GlnfsTer8) n.6535del | |
| X | g.77574340C>A | CA413701248 | ATRX | c.6236G>T (p.Arg2079Leu) n.71G>T c.1334G>T (p.Arg445Leu) c.6122G>T (p.Arg2041Leu) c.*5864G>T (n.*5864G>T) c.720G>T n.3306G>T c.6233G>T (p.Arg2078Leu) c.6149G>T (p.Arg2050Leu) c.6119G>T (p.Arg2040Leu) c.6071G>T (p.Arg2024Leu) c.6032G>T (p.Arg2011Leu) c.5957G>T (p.Arg1986Leu) n.6578G>T c.6146G>T (p.Arg2049Leu) c.6116G>T (p.Arg2039Leu) c.6068G>T (p.Arg2023Leu) c.6035G>T (p.Arg2012Leu) c.6005G>T (p.Arg2002Leu) c.6002G>T (p.Arg2001Leu) c.5954G>T (p.Arg1985Leu) c.5918G>T (p.Arg1973Leu) c.5915G>T (p.Arg1972Leu) c.5870G>T (p.Arg1957Leu) n.6535G>T | |
| X | g.77574340C>G | CA413701249 | ATRX | c.6236G>C (p.Arg2079Pro) n.71G>C c.1334G>C (p.Arg445Pro) c.6122G>C (p.Arg2041Pro) c.*5864G>C (n.*5864G>C) c.720G>C n.3306G>C c.6233G>C (p.Arg2078Pro) c.6149G>C (p.Arg2050Pro) c.6119G>C (p.Arg2040Pro) c.6071G>C (p.Arg2024Pro) c.6032G>C (p.Arg2011Pro) c.5957G>C (p.Arg1986Pro) n.6578G>C c.6146G>C (p.Arg2049Pro) c.6116G>C (p.Arg2039Pro) c.6068G>C (p.Arg2023Pro) c.6035G>C (p.Arg2012Pro) c.6005G>C (p.Arg2002Pro) c.6002G>C (p.Arg2001Pro) c.5954G>C (p.Arg1985Pro) c.5918G>C (p.Arg1973Pro) c.5915G>C (p.Arg1972Pro) c.5870G>C (p.Arg1957Pro) n.6535G>C | |
| X | g.77574340C>T | CA413701250 | ATRX | c.6236G>A (p.Arg2079Gln) n.71G>A c.1334G>A (p.Arg445Gln) c.6122G>A (p.Arg2041Gln) c.*5864G>A (n.*5864G>A) c.720G>A n.3306G>A c.6233G>A (p.Arg2078Gln) c.6149G>A (p.Arg2050Gln) c.6119G>A (p.Arg2040Gln) c.6071G>A (p.Arg2024Gln) c.6032G>A (p.Arg2011Gln) c.5957G>A (p.Arg1986Gln) n.6578G>A c.6146G>A (p.Arg2049Gln) c.6116G>A (p.Arg2039Gln) c.6068G>A (p.Arg2023Gln) c.6035G>A (p.Arg2012Gln) c.6005G>A (p.Arg2002Gln) c.6002G>A (p.Arg2001Gln) c.5954G>A (p.Arg1985Gln) c.5918G>A (p.Arg1973Gln) c.5915G>A (p.Arg1972Gln) c.5870G>A (p.Arg1957Gln) n.6535G>A | dbSNP COSMIC COSMIC |