Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.152648679_152648731del | CA2685735766 | XRCC2 | c.586_638del (p.Gln196PhefsTer9) c.754_806del (p.Gln252PhefsTer9) n.776_828del | gnomAD v4 |
7 | g.152648727A>C | CA370198004 | XRCC2 | c.590T>G (p.Phe197Cys) c.758T>G (p.Phe253Cys) n.780T>G | |
7 | g.152648727A>G | CA370198003 | XRCC2 | c.590T>C (p.Phe197Ser) c.758T>C (p.Phe253Ser) n.780T>C | |
7 | g.152648727A>T | CA370198002 | XRCC2 | c.590T>A (p.Phe197Tyr) c.758T>A (p.Phe253Tyr) n.780T>A | |
7 | g.152648727_152648729del | CA2580077736 | XRCC2 | c.588_590del (p.Gln196_Phe197delinsHis) c.756_758del (p.Gln252_Phe253delinsHis) n.778_780del | ClinVar |
7 | g.152648728A>C | CA370198005 | XRCC2 | c.589T>G (p.Phe197Val) c.757T>G (p.Phe253Val) n.779T>G | |
7 | g.152648728A>G | CA370198007 | XRCC2 | c.589T>C (p.Phe197Leu) c.757T>C (p.Phe253Leu) n.779T>C | |
7 | g.152648728A>T | CA370198006 | XRCC2 | c.589T>A (p.Phe197Ile) c.757T>A (p.Phe253Ile) n.779T>A | |
7 | g.152648729T>A | CA370198008 | XRCC2 | c.588A>T (p.Gln196His) c.756A>T (p.Gln252His) n.778A>T | |
7 | g.152648729T>C | CA458895234 | XRCC2 | c.588A>G (p.Gln196=) c.756A>G (p.Gln252=) n.778A>G | ClinVar dbSNP |
7 | g.152648729T>G | CA370198009 | XRCC2 | c.588A>C (p.Gln196His) c.756A>C (p.Gln252His) n.778A>C | |
7 | g.152648729T= | CA1753246612 | XRCC2 | c.588A= (p.Gln196=) c.756A= (p.Gln252=) n.778A= | |
7 | g.152648730T>A | CA370198010 | XRCC2 | c.587A>T (p.Gln196Leu) c.755A>T (p.Gln252Leu) n.777A>T | |
7 | g.152648730T>C | CA370198012 | XRCC2 | c.587A>G (p.Gln196Arg) c.755A>G (p.Gln252Arg) n.777A>G | |
7 | g.152648730T>G | CA370198011 | XRCC2 | c.587A>C (p.Gln196Pro) c.755A>C (p.Gln252Pro) n.777A>C | |
7 | g.152648731G>A | CA370198013 | XRCC2 | c.586C>T (p.Gln196Ter) c.754C>T (p.Gln252Ter) n.776C>T | |
7 | g.152648731G>C | CA370198015 | XRCC2 | c.586C>G (p.Gln196Glu) c.754C>G (p.Gln252Glu) n.776C>G | ClinVar dbSNP gnomAD v4 |
7 | g.152648731G= | CA1753246617 | XRCC2 | c.586C= (p.Gln196=) c.754C= (p.Gln252=) n.776C= | |
7 | g.152648731G>T | CA370198014 | XRCC2 | c.586C>A (p.Gln196Lys) c.754C>A (p.Gln252Lys) n.776C>A | |
7 | g.152648732G>A | CA458895239 | XRCC2 | c.585C>T (p.Asn195=) c.753C>T (p.Asn251=) n.775C>T | ClinVar dbSNP |
7 | g.152648732G>C | CA4582299 | XRCC2 | c.585C>G (p.Asn195Lys) c.753C>G (p.Asn251Lys) n.775C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152648732G= | CA1753246623 | XRCC2 | c.585C= (p.Asn195=) c.753C= (p.Asn251=) n.775C= | |
7 | g.152648732G>T | CA370198016 | XRCC2 | c.585C>A (p.Asn195Lys) c.753C>A (p.Asn251Lys) n.775C>A | |
7 | g.152648733T>A | CA370198017 | XRCC2 | c.584A>T (p.Asn195Ile) c.752A>T (p.Asn251Ile) n.774A>T | |
7 | g.152648733T>C | CA370198019 | XRCC2 | c.584A>G (p.Asn195Ser) c.752A>G (p.Asn251Ser) n.774A>G | |
7 | g.152648733T>G | CA370198018 | XRCC2 | c.584A>C (p.Asn195Thr) c.752A>C (p.Asn251Thr) n.774A>C | |
7 | g.152648734T>A | CA370198020 | XRCC2 | c.583A>T (p.Asn195Tyr) c.751A>T (p.Asn251Tyr) n.773A>T | |
7 | g.152648734T>C | CA370198022 | XRCC2 | c.583A>G (p.Asn195Asp) c.751A>G (p.Asn251Asp) n.773A>G | |
7 | g.152648734T>G | CA370198021 | XRCC2 | c.583A>C (p.Asn195His) c.751A>C (p.Asn251His) n.773A>C | gnomAD v4 |
7 | g.152648735G>A | CA458895241 | XRCC2 | c.582C>T (p.Ser194=) c.750C>T (p.Ser250=) n.772C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152648735G>C | CA370198023 | XRCC2 | c.582C>G (p.Ser194Arg) c.750C>G (p.Ser250Arg) n.772C>G | |
7 | g.152648735G= | CA1753246636 | XRCC2 | c.582C= (p.Ser194=) c.750C= (p.Ser250=) n.772C= | |
7 | g.152648735G>T | CA370198024 | XRCC2 | c.582C>A (p.Ser194Arg) c.750C>A (p.Ser250Arg) n.772C>A | |
7 | g.152648736C>A | CA370198025 | XRCC2 | c.581G>T (p.Ser194Ile) c.749G>T (p.Ser250Ile) n.771G>T | |
7 | g.152648736C= | CA1753246640 | XRCC2 | c.581G= (p.Ser194=) c.749G= (p.Ser250=) n.771G= | |
7 | g.152648736C>G | CA370198026 | XRCC2 | c.581G>C (p.Ser194Thr) c.749G>C (p.Ser250Thr) n.771G>C | ClinVar dbSNP |
7 | g.152648736C>T | CA370198027 | XRCC2 | c.581G>A (p.Ser194Asn) c.749G>A (p.Ser250Asn) n.771G>A | |
7 | g.152648737T>A | CA370198028 | XRCC2 | c.580A>T (p.Ser194Cys) c.748A>T (p.Ser250Cys) n.770A>T | |
7 | g.152648737T>C | CA370198029 | XRCC2 | c.580A>G (p.Ser194Gly) c.748A>G (p.Ser250Gly) n.770A>G | dbSNP |
7 | g.152648737T>G | CA370198030 | XRCC2 | c.580A>C (p.Ser194Arg) c.748A>C (p.Ser250Arg) n.770A>C | |
7 | g.152648737T= | CA1753246644 | XRCC2 | c.580A= (p.Ser194=) c.748A= (p.Ser250=) n.770A= | |
7 | g.152648738G>A | CA4582300 | XRCC2 | c.579C>T (p.Ser193=) c.747C>T (p.Ser249=) n.769C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152648738G>C | CA370198031 | XRCC2 | c.579C>G (p.Ser193Arg) c.747C>G (p.Ser249Arg) n.769C>G | |
7 | g.152648738G= | CA1753246651 | XRCC2 | c.579C= (p.Ser193=) c.747C= (p.Ser249=) n.769C= | |
7 | g.152648738G>T | CA370198032 | XRCC2 | c.579C>A (p.Ser193Arg) c.747C>A (p.Ser249Arg) n.769C>A | |
7 | g.152648739C>A | CA370198034 | XRCC2 | c.578G>T (p.Ser193Ile) c.746G>T (p.Ser249Ile) n.768G>T | |
7 | g.152648739C= | CA1753246654 | XRCC2 | c.578G= (p.Ser193=) c.746G= (p.Ser249=) n.768G= | |
7 | g.152648739C>G | CA4582301 | XRCC2 | c.578G>C (p.Ser193Thr) c.746G>C (p.Ser249Thr) n.768G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152648739C>T | CA370198033 | XRCC2 | c.578G>A (p.Ser193Asn) c.746G>A (p.Ser249Asn) n.768G>A | |
7 | g.152648742_152648754dup | CA2579071949 | XRCC2 | c.566_578dup (p.Ser193ArgfsTer2) c.734_746dup (p.Ser249ArgfsTer2) n.756_768dup | ClinVar |