Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.139961932T>A | CA369583923 | TBXAS1 | c.833T>A (p.Phe278Tyr) c.*622T>A (n.*622T>A) c.971T>A (p.Phe324Tyr) c.836T>A (p.Phe279Tyr) c.974T>A (p.Phe325Tyr) c.632T>A (p.Phe211Tyr) n.804T>A n.316T>A n.198T>A c.776T>A (p.Phe259Tyr) c.-4294966196T>A c.650T>A (p.Phe217Tyr) c.578T>A (p.Phe193Tyr) | |
7 | g.139961932T>C | CA369583925 | TBXAS1 | c.833T>C (p.Phe278Ser) c.*622T>C (n.*622T>C) c.971T>C (p.Phe324Ser) c.836T>C (p.Phe279Ser) c.974T>C (p.Phe325Ser) c.632T>C (p.Phe211Ser) n.804T>C n.316T>C n.198T>C c.776T>C (p.Phe259Ser) c.-4294966196T>C c.650T>C (p.Phe217Ser) c.578T>C (p.Phe193Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139961932T>G | CA369583927 | TBXAS1 | c.833T>G (p.Phe278Cys) c.*622T>G (n.*622T>G) c.971T>G (p.Phe324Cys) c.836T>G (p.Phe279Cys) c.974T>G (p.Phe325Cys) c.632T>G (p.Phe211Cys) n.804T>G n.316T>G n.198T>G c.776T>G (p.Phe259Cys) c.-4294966196T>G c.650T>G (p.Phe217Cys) c.578T>G (p.Phe193Cys) | |
7 | g.139961932T= | CA1747341010 | TBXAS1 | c.833T= (p.Phe278=) c.*622T= (n.*622T=) c.971T= (p.Phe324=) c.836T= (p.Phe279=) c.974T= (p.Phe325=) c.632T= (p.Phe211=) n.804T= n.316T= n.198T= c.776T= (p.Phe259=) c.-4294966196T= c.650T= (p.Phe217=) c.578T= (p.Phe193=) | |
7 | g.139961933C>A | CA369583930 | TBXAS1 | c.834C>A (p.Phe278Leu) c.*623C>A (n.*623C>A) c.972C>A (p.Phe324Leu) c.837C>A (p.Phe279Leu) c.975C>A (p.Phe325Leu) c.633C>A (p.Phe211Leu) n.805C>A n.317C>A n.199C>A c.777C>A (p.Phe259Leu) c.-4294966195C>A c.651C>A (p.Phe217Leu) c.579C>A (p.Phe193Leu) | |
7 | g.139961933C>G | CA369583931 | TBXAS1 | c.834C>G (p.Phe278Leu) c.*623C>G (n.*623C>G) c.972C>G (p.Phe324Leu) c.837C>G (p.Phe279Leu) c.975C>G (p.Phe325Leu) c.633C>G (p.Phe211Leu) n.805C>G n.317C>G n.199C>G c.777C>G (p.Phe259Leu) c.-4294966195C>G c.651C>G (p.Phe217Leu) c.579C>G (p.Phe193Leu) | |
7 | g.139961933C>T | CA458115317 | TBXAS1 | c.834C>T (p.Phe278=) c.*623C>T (n.*623C>T) c.972C>T (p.Phe324=) c.837C>T (p.Phe279=) c.975C>T (p.Phe325=) c.633C>T (p.Phe211=) n.805C>T n.317C>T n.199C>T c.777C>T (p.Phe259=) c.-4294966195C>T c.651C>T (p.Phe217=) c.579C>T (p.Phe193=) | COSMIC COSMIC |
7 | g.139961934C>A | CA369583934 | TBXAS1 | c.835C>A (p.Leu279Ile) c.*624C>A (n.*624C>A) c.973C>A (p.Leu325Ile) c.838C>A (p.Leu280Ile) c.976C>A (p.Leu326Ile) c.634C>A (p.Leu212Ile) n.806C>A n.318C>A n.200C>A c.778C>A (p.Leu260Ile) c.-4294966194C>A c.652C>A (p.Leu218Ile) c.580C>A (p.Leu194Ile) | |
7 | g.139961934C>G | CA369583936 | TBXAS1 | c.835C>G (p.Leu279Val) c.*624C>G (n.*624C>G) c.973C>G (p.Leu325Val) c.838C>G (p.Leu280Val) c.976C>G (p.Leu326Val) c.634C>G (p.Leu212Val) n.806C>G n.318C>G n.200C>G c.778C>G (p.Leu260Val) c.-4294966194C>G c.652C>G (p.Leu218Val) c.580C>G (p.Leu194Val) | |
7 | g.139961934C>T | CA369583938 | TBXAS1 | c.835C>T (p.Leu279Phe) c.*624C>T (n.*624C>T) c.973C>T (p.Leu325Phe) c.838C>T (p.Leu280Phe) c.976C>T (p.Leu326Phe) c.634C>T (p.Leu212Phe) n.806C>T n.318C>T n.200C>T c.778C>T (p.Leu260Phe) c.-4294966194C>T c.652C>T (p.Leu218Phe) c.580C>T (p.Leu194Phe) | |
7 | g.139961935T>A | CA369583944 | TBXAS1 | c.836T>A (p.Leu279His) c.*625T>A (n.*625T>A) c.974T>A (p.Leu325His) c.839T>A (p.Leu280His) c.977T>A (p.Leu326His) c.635T>A (p.Leu212His) n.807T>A n.319T>A n.201T>A c.779T>A (p.Leu260His) c.-4294966193T>A c.653T>A (p.Leu218His) c.581T>A (p.Leu194His) | |
7 | g.139961935T>C | CA369583943 | TBXAS1 | c.836T>C (p.Leu279Pro) c.*625T>C (n.*625T>C) c.974T>C (p.Leu325Pro) c.839T>C (p.Leu280Pro) c.977T>C (p.Leu326Pro) c.635T>C (p.Leu212Pro) n.807T>C n.319T>C n.201T>C c.779T>C (p.Leu260Pro) c.-4294966193T>C c.653T>C (p.Leu218Pro) c.581T>C (p.Leu194Pro) | |
7 | g.139961935T>G | CA369583940 | TBXAS1 | c.836T>G (p.Leu279Arg) c.*625T>G (n.*625T>G) c.974T>G (p.Leu325Arg) c.839T>G (p.Leu280Arg) c.977T>G (p.Leu326Arg) c.635T>G (p.Leu212Arg) n.807T>G n.319T>G n.201T>G c.779T>G (p.Leu260Arg) c.-4294966193T>G c.653T>G (p.Leu218Arg) c.581T>G (p.Leu194Arg) | |
7 | g.139961936C>A | CA458115318 | TBXAS1 | c.837C>A (p.Leu279=) c.*626C>A (n.*626C>A) c.975C>A (p.Leu325=) c.840C>A (p.Leu280=) c.978C>A (p.Leu326=) c.636C>A (p.Leu212=) n.808C>A n.320C>A n.202C>A c.780C>A (p.Leu260=) c.-4294966192C>A c.654C>A (p.Leu218=) c.582C>A (p.Leu194=) | |
7 | g.139961936C= | CA1747341011 | TBXAS1 | c.837C= (p.Leu279=) c.*626C= (n.*626C=) c.975C= (p.Leu325=) c.840C= (p.Leu280=) c.978C= (p.Leu326=) c.636C= (p.Leu212=) n.808C= n.320C= n.202C= c.780C= (p.Leu260=) c.-4294966192C= c.654C= (p.Leu218=) c.582C= (p.Leu194=) | |
7 | g.139961936C>G | CA458115319 | TBXAS1 | c.837C>G (p.Leu279=) c.*626C>G (n.*626C>G) c.975C>G (p.Leu325=) c.840C>G (p.Leu280=) c.978C>G (p.Leu326=) c.636C>G (p.Leu212=) n.808C>G n.320C>G n.202C>G c.780C>G (p.Leu260=) c.-4294966192C>G c.654C>G (p.Leu218=) c.582C>G (p.Leu194=) | |
7 | g.139961936C>T | CA458115320 | TBXAS1 | c.837C>T (p.Leu279=) c.*626C>T (n.*626C>T) c.975C>T (p.Leu325=) c.840C>T (p.Leu280=) c.978C>T (p.Leu326=) c.636C>T (p.Leu212=) n.808C>T n.320C>T n.202C>T c.780C>T (p.Leu260=) c.-4294966192C>T c.654C>T (p.Leu218=) c.582C>T (p.Leu194=) | dbSNP |
7 | g.139961937C>A | CA369583946 | TBXAS1 | c.838C>A (p.Gln280Lys) c.*627C>A (n.*627C>A) c.976C>A (p.Gln326Lys) c.841C>A (p.Gln281Lys) c.979C>A (p.Gln327Lys) c.637C>A (p.Gln213Lys) n.809C>A n.321C>A n.203C>A c.781C>A (p.Gln261Lys) c.-4294966191C>A c.655C>A (p.Gln219Lys) c.583C>A (p.Gln195Lys) | |
7 | g.139961937C>G | CA369583948 | TBXAS1 | c.838C>G (p.Gln280Glu) c.*627C>G (n.*627C>G) c.976C>G (p.Gln326Glu) c.841C>G (p.Gln281Glu) c.979C>G (p.Gln327Glu) c.637C>G (p.Gln213Glu) n.809C>G n.321C>G n.203C>G c.781C>G (p.Gln261Glu) c.-4294966191C>G c.655C>G (p.Gln219Glu) c.583C>G (p.Gln195Glu) | |
7 | g.139961937C>T | CA369583949 | TBXAS1 | c.838C>T (p.Gln280Ter) c.*627C>T (n.*627C>T) c.976C>T (p.Gln326Ter) c.841C>T (p.Gln281Ter) c.979C>T (p.Gln327Ter) c.637C>T (p.Gln213Ter) n.809C>T n.321C>T n.203C>T c.781C>T (p.Gln261Ter) c.-4294966191C>T c.655C>T (p.Gln219Ter) c.583C>T (p.Gln195Ter) | |
7 | g.139961938A>C | CA369583951 | TBXAS1 | c.839A>C (p.Gln280Pro) c.*628A>C (n.*628A>C) c.977A>C (p.Gln326Pro) c.842A>C (p.Gln281Pro) c.980A>C (p.Gln327Pro) c.638A>C (p.Gln213Pro) n.810A>C n.322A>C n.204A>C c.782A>C (p.Gln261Pro) c.-4294966190A>C c.656A>C (p.Gln219Pro) c.584A>C (p.Gln195Pro) | |
7 | g.139961938A>G | CA369583953 | TBXAS1 | c.839A>G (p.Gln280Arg) c.*628A>G (n.*628A>G) c.977A>G (p.Gln326Arg) c.842A>G (p.Gln281Arg) c.980A>G (p.Gln327Arg) c.638A>G (p.Gln213Arg) n.810A>G n.322A>G n.204A>G c.782A>G (p.Gln261Arg) c.-4294966190A>G c.656A>G (p.Gln219Arg) c.584A>G (p.Gln195Arg) | |
7 | g.139961938A>T | CA369583954 | TBXAS1 | c.839A>T (p.Gln280Leu) c.*628A>T (n.*628A>T) c.977A>T (p.Gln326Leu) c.842A>T (p.Gln281Leu) c.980A>T (p.Gln327Leu) c.638A>T (p.Gln213Leu) n.810A>T n.322A>T n.204A>T c.782A>T (p.Gln261Leu) c.-4294966190A>T c.656A>T (p.Gln219Leu) c.584A>T (p.Gln195Leu) | |
7 | g.139961939A= | CA1747341012 | TBXAS1 | c.840A= (p.Gln280=) c.*629A= (n.*629A=) c.978A= (p.Gln326=) c.843A= (p.Gln281=) c.981A= (p.Gln327=) c.639A= (p.Gln213=) n.811A= n.323A= n.205A= c.783A= (p.Gln261=) c.-4294966189A= c.657A= (p.Gln219=) c.585A= (p.Gln195=) | |
7 | g.139961939A>C | CA369583957 | TBXAS1 | c.840A>C (p.Gln280His) c.*629A>C (n.*629A>C) c.978A>C (p.Gln326His) c.843A>C (p.Gln281His) c.981A>C (p.Gln327His) c.639A>C (p.Gln213His) n.811A>C n.323A>C n.205A>C c.783A>C (p.Gln261His) c.-4294966189A>C c.657A>C (p.Gln219His) c.585A>C (p.Gln195His) | |
7 | g.139961939A>G | CA458115321 | TBXAS1 | c.840A>G (p.Gln280=) c.*629A>G (n.*629A>G) c.978A>G (p.Gln326=) c.843A>G (p.Gln281=) c.981A>G (p.Gln327=) c.639A>G (p.Gln213=) n.811A>G n.323A>G n.205A>G c.783A>G (p.Gln261=) c.-4294966189A>G c.657A>G (p.Gln219=) c.585A>G (p.Gln195=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961939A>T | CA369583959 | TBXAS1 | c.840A>T (p.Gln280His) c.*629A>T (n.*629A>T) c.978A>T (p.Gln326His) c.843A>T (p.Gln281His) c.981A>T (p.Gln327His) c.639A>T (p.Gln213His) n.811A>T n.323A>T n.205A>T c.783A>T (p.Gln261His) c.-4294966189A>T c.657A>T (p.Gln219His) c.585A>T (p.Gln195His) | |
7 | g.139961940A= | CA1747341013 | TBXAS1 | c.841A= (p.Met281=) c.*630A= (n.*630A=) c.979A= (p.Met327=) c.844A= (p.Met282=) c.982A= (p.Met328=) c.640A= (p.Met214=) n.812A= n.324A= n.206A= c.784A= (p.Met262=) c.-4294966188A= c.658A= (p.Met220=) c.586A= (p.Met196=) | |
7 | g.139961940A>C | CA369583961 | TBXAS1 | c.841A>C (p.Met281Leu) c.*630A>C (n.*630A>C) c.979A>C (p.Met327Leu) c.844A>C (p.Met282Leu) c.982A>C (p.Met328Leu) c.640A>C (p.Met214Leu) n.812A>C n.324A>C n.206A>C c.784A>C (p.Met262Leu) c.-4294966188A>C c.658A>C (p.Met220Leu) c.586A>C (p.Met196Leu) | |
7 | g.139961940A>G | CA369583963 | TBXAS1 | c.841A>G (p.Met281Val) c.*630A>G (n.*630A>G) c.979A>G (p.Met327Val) c.844A>G (p.Met282Val) c.982A>G (p.Met328Val) c.640A>G (p.Met214Val) n.812A>G n.324A>G n.206A>G c.784A>G (p.Met262Val) c.-4294966188A>G c.658A>G (p.Met220Val) c.586A>G (p.Met196Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961940A>T | CA369583964 | TBXAS1 | c.841A>T (p.Met281Leu) c.*630A>T (n.*630A>T) c.979A>T (p.Met327Leu) c.844A>T (p.Met282Leu) c.982A>T (p.Met328Leu) c.640A>T (p.Met214Leu) n.812A>T n.324A>T n.206A>T c.784A>T (p.Met262Leu) c.-4294966188A>T c.658A>T (p.Met220Leu) c.586A>T (p.Met196Leu) | |
7 | g.139961941T>A | CA369583966 | TBXAS1 | c.842T>A (p.Met281Lys) c.*631T>A (n.*631T>A) c.980T>A (p.Met327Lys) c.845T>A (p.Met282Lys) c.983T>A (p.Met328Lys) c.641T>A (p.Met214Lys) n.813T>A n.325T>A n.207T>A c.785T>A (p.Met262Lys) c.-4294966187T>A c.659T>A (p.Met220Lys) c.587T>A (p.Met196Lys) | |
7 | g.139961941T>C | CA369583968 | TBXAS1 | c.842T>C (p.Met281Thr) c.*631T>C (n.*631T>C) c.980T>C (p.Met327Thr) c.845T>C (p.Met282Thr) c.983T>C (p.Met328Thr) c.641T>C (p.Met214Thr) n.813T>C n.325T>C n.207T>C c.785T>C (p.Met262Thr) c.-4294966187T>C c.659T>C (p.Met220Thr) c.587T>C (p.Met196Thr) | COSMIC COSMIC |
7 | g.139961941T>G | CA369583971 | TBXAS1 | c.842T>G (p.Met281Arg) c.*631T>G (n.*631T>G) c.980T>G (p.Met327Arg) c.845T>G (p.Met282Arg) c.983T>G (p.Met328Arg) c.641T>G (p.Met214Arg) n.813T>G n.325T>G n.207T>G c.785T>G (p.Met262Arg) c.-4294966187T>G c.659T>G (p.Met220Arg) c.587T>G (p.Met196Arg) | |
7 | g.139961942G>A | CA369583975 | TBXAS1 | c.843G>A (p.Met281Ile) c.*632G>A (n.*632G>A) c.981G>A (p.Met327Ile) c.846G>A (p.Met282Ile) c.984G>A (p.Met328Ile) c.642G>A (p.Met214Ile) n.814G>A n.326G>A n.208G>A c.786G>A (p.Met262Ile) c.-4294966186G>A c.660G>A (p.Met220Ile) c.588G>A (p.Met196Ile) | |
7 | g.139961942G>C | CA369583977 | TBXAS1 | c.843G>C (p.Met281Ile) c.*632G>C (n.*632G>C) c.981G>C (p.Met327Ile) c.846G>C (p.Met282Ile) c.984G>C (p.Met328Ile) c.642G>C (p.Met214Ile) n.814G>C n.326G>C n.208G>C c.786G>C (p.Met262Ile) c.-4294966186G>C c.660G>C (p.Met220Ile) c.588G>C (p.Met196Ile) | |
7 | g.139961942G= | CA1747341014 | TBXAS1 | c.843G= (p.Met281=) c.*632G= (n.*632G=) c.981G= (p.Met327=) c.846G= (p.Met282=) c.984G= (p.Met328=) c.642G= (p.Met214=) n.814G= n.326G= n.208G= c.786G= (p.Met262=) c.-4294966186G= c.660G= (p.Met220=) c.588G= (p.Met196=) | |
7 | g.139961942G>T | CA369583973 | TBXAS1 | c.843G>T (p.Met281Ile) c.*632G>T (n.*632G>T) c.981G>T (p.Met327Ile) c.846G>T (p.Met282Ile) c.984G>T (p.Met328Ile) c.642G>T (p.Met214Ile) n.814G>T n.326G>T n.208G>T c.786G>T (p.Met262Ile) c.-4294966186G>T c.660G>T (p.Met220Ile) c.588G>T (p.Met196Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961943G>A | CA369583979 | TBXAS1 | c.844G>A (p.Val282Ile) c.*633G>A (n.*633G>A) c.982G>A (p.Val328Ile) c.847G>A (p.Val283Ile) c.985G>A (p.Val329Ile) c.643G>A (p.Val215Ile) n.815G>A n.327G>A n.209G>A c.787G>A (p.Val263Ile) c.-4294966185G>A c.661G>A (p.Val221Ile) c.589G>A (p.Val197Ile) | |
7 | g.139961943G>C | CA167953439 | TBXAS1 | c.844G>C (p.Val282Leu) c.*633G>C (n.*633G>C) c.982G>C (p.Val328Leu) c.847G>C (p.Val283Leu) c.985G>C (p.Val329Leu) c.643G>C (p.Val215Leu) n.815G>C n.327G>C n.209G>C c.787G>C (p.Val263Leu) c.-4294966185G>C c.661G>C (p.Val221Leu) c.589G>C (p.Val197Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961943G= | CA1747341015 | TBXAS1 | c.844G= (p.Val282=) c.*633G= (n.*633G=) c.982G= (p.Val328=) c.847G= (p.Val283=) c.985G= (p.Val329=) c.643G= (p.Val215=) n.815G= n.327G= n.209G= c.787G= (p.Val263=) c.-4294966185G= c.661G= (p.Val221=) c.589G= (p.Val197=) | |
7 | g.139961943G>T | CA369583982 | TBXAS1 | c.844G>T (p.Val282Phe) c.*633G>T (n.*633G>T) c.982G>T (p.Val328Phe) c.847G>T (p.Val283Phe) c.985G>T (p.Val329Phe) c.643G>T (p.Val215Phe) n.815G>T n.327G>T n.209G>T c.787G>T (p.Val263Phe) c.-4294966185G>T c.661G>T (p.Val221Phe) c.589G>T (p.Val197Phe) | |
7 | g.139961944T>A | CA369583985 | TBXAS1 | c.845T>A (p.Val282Asp) c.*634T>A (n.*634T>A) c.983T>A (p.Val328Asp) c.848T>A (p.Val283Asp) c.986T>A (p.Val329Asp) c.644T>A (p.Val215Asp) n.816T>A n.328T>A n.210T>A c.788T>A (p.Val263Asp) c.-4294966184T>A c.662T>A (p.Val221Asp) c.590T>A (p.Val197Asp) | |
7 | g.139961944T>C | CA369583986 | TBXAS1 | c.845T>C (p.Val282Ala) c.*634T>C (n.*634T>C) c.983T>C (p.Val328Ala) c.848T>C (p.Val283Ala) c.986T>C (p.Val329Ala) c.644T>C (p.Val215Ala) n.816T>C n.328T>C n.210T>C c.788T>C (p.Val263Ala) c.-4294966184T>C c.662T>C (p.Val221Ala) c.590T>C (p.Val197Ala) | gnomAD v4 |
7 | g.139961944T>G | CA369583988 | TBXAS1 | c.845T>G (p.Val282Gly) c.*634T>G (n.*634T>G) c.983T>G (p.Val328Gly) c.848T>G (p.Val283Gly) c.986T>G (p.Val329Gly) c.644T>G (p.Val215Gly) n.816T>G n.328T>G n.210T>G c.788T>G (p.Val263Gly) c.-4294966184T>G c.662T>G (p.Val221Gly) c.590T>G (p.Val197Gly) | |
7 | g.139961945C>A | CA458115326 | TBXAS1 | c.846C>A (p.Val282=) c.*635C>A (n.*635C>A) c.984C>A (p.Val328=) c.849C>A (p.Val283=) c.987C>A (p.Val329=) c.645C>A (p.Val215=) n.817C>A n.329C>A n.211C>A c.789C>A (p.Val263=) c.-4294966183C>A c.663C>A (p.Val221=) c.591C>A (p.Val197=) | |
7 | g.139961945C>G | CA458115327 | TBXAS1 | c.846C>G (p.Val282=) c.*635C>G (n.*635C>G) c.984C>G (p.Val328=) c.849C>G (p.Val283=) c.987C>G (p.Val329=) c.645C>G (p.Val215=) n.817C>G n.329C>G n.211C>G c.789C>G (p.Val263=) c.-4294966183C>G c.663C>G (p.Val221=) c.591C>G (p.Val197=) | |
7 | g.139961945C>T | CA458115328 | TBXAS1 | c.846C>T (p.Val282=) c.*635C>T (n.*635C>T) c.984C>T (p.Val328=) c.849C>T (p.Val283=) c.987C>T (p.Val329=) c.645C>T (p.Val215=) n.817C>T n.329C>T n.211C>T c.789C>T (p.Val263=) c.-4294966183C>T c.663C>T (p.Val221=) c.591C>T (p.Val197=) | |
7 | g.139961946C>A | CA369583992 | TBXAS1 | c.847C>A (p.Leu283Met) c.*636C>A (n.*636C>A) c.985C>A (p.Leu329Met) c.850C>A (p.Leu284Met) c.988C>A (p.Leu330Met) c.646C>A (p.Leu216Met) n.818C>A n.330C>A n.212C>A c.790C>A (p.Leu264Met) c.-4294966182C>A c.664C>A (p.Leu222Met) c.592C>A (p.Leu198Met) | |
7 | g.139961946C>G | CA369583990 | TBXAS1 | c.847C>G (p.Leu283Val) c.*636C>G (n.*636C>G) c.985C>G (p.Leu329Val) c.850C>G (p.Leu284Val) c.988C>G (p.Leu330Val) c.646C>G (p.Leu216Val) n.818C>G n.330C>G n.212C>G c.790C>G (p.Leu264Val) c.-4294966182C>G c.664C>G (p.Leu222Val) c.592C>G (p.Leu198Val) | |
7 | g.139961946C>T | CA458115330 | TBXAS1 | c.847C>T (p.Leu283=) c.*636C>T (n.*636C>T) c.985C>T (p.Leu329=) c.850C>T (p.Leu284=) c.988C>T (p.Leu330=) c.646C>T (p.Leu216=) n.818C>T n.330C>T n.212C>T c.790C>T (p.Leu264=) c.-4294966182C>T c.664C>T (p.Leu222=) c.592C>T (p.Leu198=) | |
7 | g.139961947T>A | CA369583994 | TBXAS1 | c.848T>A (p.Leu283Gln) c.*637T>A (n.*637T>A) c.986T>A (p.Leu329Gln) c.851T>A (p.Leu284Gln) c.989T>A (p.Leu330Gln) c.647T>A (p.Leu216Gln) n.819T>A n.331T>A n.213T>A c.791T>A (p.Leu264Gln) c.-4294966181T>A c.665T>A (p.Leu222Gln) c.593T>A (p.Leu198Gln) | |
7 | g.139961947T>C | CA167953440 | TBXAS1 | c.848T>C (p.Leu283Pro) c.*637T>C (n.*637T>C) c.986T>C (p.Leu329Pro) c.851T>C (p.Leu284Pro) c.989T>C (p.Leu330Pro) c.647T>C (p.Leu216Pro) n.819T>C n.331T>C n.213T>C c.791T>C (p.Leu264Pro) c.-4294966181T>C c.665T>C (p.Leu222Pro) c.593T>C (p.Leu198Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961947T>G | CA369583997 | TBXAS1 | c.848T>G (p.Leu283Arg) c.*637T>G (n.*637T>G) c.986T>G (p.Leu329Arg) c.851T>G (p.Leu284Arg) c.989T>G (p.Leu330Arg) c.647T>G (p.Leu216Arg) n.819T>G n.331T>G n.213T>G c.791T>G (p.Leu264Arg) c.-4294966181T>G c.665T>G (p.Leu222Arg) c.593T>G (p.Leu198Arg) | gnomAD v4 |
7 | g.139961947T= | CA1747341016 | TBXAS1 | c.848T= (p.Leu283=) c.*637T= (n.*637T=) c.986T= (p.Leu329=) c.851T= (p.Leu284=) c.989T= (p.Leu330=) c.647T= (p.Leu216=) n.819T= n.331T= n.213T= c.791T= (p.Leu264=) c.-4294966181T= c.665T= (p.Leu222=) c.593T= (p.Leu198=) | |
7 | g.139961948G>A | CA458115331 | TBXAS1 | c.849G>A (p.Leu283=) c.*638G>A (n.*638G>A) c.987G>A (p.Leu329=) c.852G>A (p.Leu284=) c.990G>A (p.Leu330=) c.648G>A (p.Leu216=) n.820G>A n.332G>A n.214G>A c.792G>A (p.Leu264=) c.-4294966180G>A c.666G>A (p.Leu222=) c.594G>A (p.Leu198=) | |
7 | g.139961948G>C | CA458115332 | TBXAS1 | c.849G>C (p.Leu283=) c.*638G>C (n.*638G>C) c.987G>C (p.Leu329=) c.852G>C (p.Leu284=) c.990G>C (p.Leu330=) c.648G>C (p.Leu216=) n.820G>C n.332G>C n.214G>C c.792G>C (p.Leu264=) c.-4294966180G>C c.666G>C (p.Leu222=) c.594G>C (p.Leu198=) | |
7 | g.139961948G>T | CA458115333 | TBXAS1 | c.849G>T (p.Leu283=) c.*638G>T (n.*638G>T) c.987G>T (p.Leu329=) c.852G>T (p.Leu284=) c.990G>T (p.Leu330=) c.648G>T (p.Leu216=) n.820G>T n.332G>T n.214G>T c.792G>T (p.Leu264=) c.-4294966180G>T c.666G>T (p.Leu222=) c.594G>T (p.Leu198=) | COSMIC COSMIC |
7 | g.139961949G>A | CA4511831 | TBXAS1 | c.850G>A (p.Asp284Asn) c.*639G>A (n.*639G>A) c.988G>A (p.Asp330Asn) c.853G>A (p.Asp285Asn) c.991G>A (p.Asp331Asn) c.649G>A (p.Asp217Asn) n.821G>A n.333G>A n.215G>A c.793G>A (p.Asp265Asn) c.-4294966179G>A c.667G>A (p.Asp223Asn) c.595G>A (p.Asp199Asn) | dbSNP ExAC gnomAD v2 |
7 | g.139961949G>C | CA369584000 | TBXAS1 | c.850G>C (p.Asp284His) c.*639G>C (n.*639G>C) c.988G>C (p.Asp330His) c.853G>C (p.Asp285His) c.991G>C (p.Asp331His) c.649G>C (p.Asp217His) n.821G>C n.333G>C n.215G>C c.793G>C (p.Asp265His) c.-4294966179G>C c.667G>C (p.Asp223His) c.595G>C (p.Asp199His) | |
7 | g.139961949G= | CA1747341017 | TBXAS1 | c.850G= (p.Asp284=) c.*639G= (n.*639G=) c.988G= (p.Asp330=) c.853G= (p.Asp285=) c.991G= (p.Asp331=) c.649G= (p.Asp217=) n.821G= n.333G= n.215G= c.793G= (p.Asp265=) c.-4294966179G= c.667G= (p.Asp223=) c.595G= (p.Asp199=) | |
7 | g.139961949G>T | CA369584002 | TBXAS1 | c.850G>T (p.Asp284Tyr) c.*639G>T (n.*639G>T) c.988G>T (p.Asp330Tyr) c.853G>T (p.Asp285Tyr) c.991G>T (p.Asp331Tyr) c.649G>T (p.Asp217Tyr) n.821G>T n.333G>T n.215G>T c.793G>T (p.Asp265Tyr) c.-4294966179G>T c.667G>T (p.Asp223Tyr) c.595G>T (p.Asp199Tyr) | |
7 | g.139961950A>C | CA369584005 | TBXAS1 | c.851A>C (p.Asp284Ala) c.*640A>C (n.*640A>C) c.989A>C (p.Asp330Ala) c.854A>C (p.Asp285Ala) c.992A>C (p.Asp331Ala) c.650A>C (p.Asp217Ala) n.822A>C n.334A>C n.216A>C c.794A>C (p.Asp265Ala) c.-4294966178A>C c.668A>C (p.Asp223Ala) c.596A>C (p.Asp199Ala) | |
7 | g.139961950A>G | CA369584010 | TBXAS1 | c.851A>G (p.Asp284Gly) c.*640A>G (n.*640A>G) c.989A>G (p.Asp330Gly) c.854A>G (p.Asp285Gly) c.992A>G (p.Asp331Gly) c.650A>G (p.Asp217Gly) n.822A>G n.334A>G n.216A>G c.794A>G (p.Asp265Gly) c.-4294966178A>G c.668A>G (p.Asp223Gly) c.596A>G (p.Asp199Gly) | |
7 | g.139961950A>T | CA369584007 | TBXAS1 | c.851A>T (p.Asp284Val) c.*640A>T (n.*640A>T) c.989A>T (p.Asp330Val) c.854A>T (p.Asp285Val) c.992A>T (p.Asp331Val) c.650A>T (p.Asp217Val) n.822A>T n.334A>T n.216A>T c.794A>T (p.Asp265Val) c.-4294966178A>T c.668A>T (p.Asp223Val) c.596A>T (p.Asp199Val) | |
7 | g.139961950dup | CA2501845623 | TBXAS1 | c.851dup (p.Asp284GlufsTer15) c.*640dup (n.*640dup) c.989dup (p.Asp330GlufsTer15) c.854dup (p.Asp285GlufsTer15) c.992dup (p.Asp331GlufsTer15) c.650dup (p.Asp217GlufsTer15) n.822dup n.334dup n.216dup c.794dup (p.Asp265GlufsTer15) c.-4294966178dup c.668dup (p.Asp223GlufsTer15) c.596dup (p.Asp199GlufsTer15) | |
7 | g.139961951T>A | CA369584012 | TBXAS1 | c.852T>A (p.Asp284Glu) c.*641T>A (n.*641T>A) c.990T>A (p.Asp330Glu) c.855T>A (p.Asp285Glu) c.993T>A (p.Asp331Glu) c.651T>A (p.Asp217Glu) n.823T>A n.335T>A n.217T>A c.795T>A (p.Asp265Glu) c.-4294966177T>A c.669T>A (p.Asp223Glu) c.597T>A (p.Asp199Glu) | gnomAD v4 |
7 | g.139961951T>C | CA458115337 | TBXAS1 | c.852T>C (p.Asp284=) c.*641T>C (n.*641T>C) c.990T>C (p.Asp330=) c.855T>C (p.Asp285=) c.993T>C (p.Asp331=) c.651T>C (p.Asp217=) n.823T>C n.335T>C n.217T>C c.795T>C (p.Asp265=) c.-4294966177T>C c.669T>C (p.Asp223=) c.597T>C (p.Asp199=) | |
7 | g.139961951T>G | CA369584014 | TBXAS1 | c.852T>G (p.Asp284Glu) c.*641T>G (n.*641T>G) c.990T>G (p.Asp330Glu) c.855T>G (p.Asp285Glu) c.993T>G (p.Asp331Glu) c.651T>G (p.Asp217Glu) n.823T>G n.335T>G n.217T>G c.795T>G (p.Asp265Glu) c.-4294966177T>G c.669T>G (p.Asp223Glu) c.597T>G (p.Asp199Glu) | gnomAD v4 |
7 | g.139961952G>A | CA369584015 | TBXAS1 | c.853G>A (p.Ala285Thr) c.*642G>A (n.*642G>A) c.991G>A (p.Ala331Thr) c.856G>A (p.Ala286Thr) c.994G>A (p.Ala332Thr) c.652G>A (p.Ala218Thr) n.824G>A n.336G>A n.218G>A c.796G>A (p.Ala266Thr) c.-4294966176G>A c.670G>A (p.Ala224Thr) c.598G>A (p.Ala200Thr) | |
7 | g.139961952G>C | CA369584017 | TBXAS1 | c.853G>C (p.Ala285Pro) c.*642G>C (n.*642G>C) c.991G>C (p.Ala331Pro) c.856G>C (p.Ala286Pro) c.994G>C (p.Ala332Pro) c.652G>C (p.Ala218Pro) n.824G>C n.336G>C n.218G>C c.796G>C (p.Ala266Pro) c.-4294966176G>C c.670G>C (p.Ala224Pro) c.598G>C (p.Ala200Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961952G= | CA1747341018 | TBXAS1 | c.853G= (p.Ala285=) c.*642G= (n.*642G=) c.991G= (p.Ala331=) c.856G= (p.Ala286=) c.994G= (p.Ala332=) c.652G= (p.Ala218=) n.824G= n.336G= n.218G= c.796G= (p.Ala266=) c.-4294966176G= c.670G= (p.Ala224=) c.598G= (p.Ala200=) | |
7 | g.139961952G>T | CA369584019 | TBXAS1 | c.853G>T (p.Ala285Ser) c.*642G>T (n.*642G>T) c.991G>T (p.Ala331Ser) c.856G>T (p.Ala286Ser) c.994G>T (p.Ala332Ser) c.652G>T (p.Ala218Ser) n.824G>T n.336G>T n.218G>T c.796G>T (p.Ala266Ser) c.-4294966176G>T c.670G>T (p.Ala224Ser) c.598G>T (p.Ala200Ser) | |
7 | g.139961953C>A | CA369584021 | TBXAS1 | c.854C>A (p.Ala285Asp) c.*643C>A (n.*643C>A) c.992C>A (p.Ala331Asp) c.857C>A (p.Ala286Asp) c.995C>A (p.Ala332Asp) c.653C>A (p.Ala218Asp) n.825C>A n.337C>A n.219C>A c.797C>A (p.Ala266Asp) c.-4294966175C>A c.671C>A (p.Ala224Asp) c.599C>A (p.Ala200Asp) | |
7 | g.139961953C>G | CA369584023 | TBXAS1 | c.854C>G (p.Ala285Gly) c.*643C>G (n.*643C>G) c.992C>G (p.Ala331Gly) c.857C>G (p.Ala286Gly) c.995C>G (p.Ala332Gly) c.653C>G (p.Ala218Gly) n.825C>G n.337C>G n.219C>G c.797C>G (p.Ala266Gly) c.-4294966175C>G c.671C>G (p.Ala224Gly) c.599C>G (p.Ala200Gly) | |
7 | g.139961953C>T | CA369584025 | TBXAS1 | c.854C>T (p.Ala285Val) c.*643C>T (n.*643C>T) c.992C>T (p.Ala331Val) c.857C>T (p.Ala286Val) c.995C>T (p.Ala332Val) c.653C>T (p.Ala218Val) n.825C>T n.337C>T n.219C>T c.797C>T (p.Ala266Val) c.-4294966175C>T c.671C>T (p.Ala224Val) c.599C>T (p.Ala200Val) | |
7 | g.139961954C>A | CA458115339 | TBXAS1 | c.855C>A (p.Ala285=) c.*644C>A (n.*644C>A) c.993C>A (p.Ala331=) c.858C>A (p.Ala286=) c.996C>A (p.Ala332=) c.654C>A (p.Ala218=) n.826C>A n.338C>A n.220C>A c.798C>A (p.Ala266=) c.-4294966174C>A c.672C>A (p.Ala224=) c.600C>A (p.Ala200=) | |
7 | g.139961954C= | CA1747341019 | TBXAS1 | c.855C= (p.Ala285=) c.*644C= (n.*644C=) c.993C= (p.Ala331=) c.858C= (p.Ala286=) c.996C= (p.Ala332=) c.654C= (p.Ala218=) n.826C= n.338C= n.220C= c.798C= (p.Ala266=) c.-4294966174C= c.672C= (p.Ala224=) c.600C= (p.Ala200=) | |
7 | g.139961954C>G | CA167953441 | TBXAS1 | c.855C>G (p.Ala285=) c.*644C>G (n.*644C>G) c.993C>G (p.Ala331=) c.858C>G (p.Ala286=) c.996C>G (p.Ala332=) c.654C>G (p.Ala218=) n.826C>G n.338C>G n.220C>G c.798C>G (p.Ala266=) c.-4294966174C>G c.672C>G (p.Ala224=) c.600C>G (p.Ala200=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961954C>T | CA458115338 | TBXAS1 | c.855C>T (p.Ala285=) c.*644C>T (n.*644C>T) c.993C>T (p.Ala331=) c.858C>T (p.Ala286=) c.996C>T (p.Ala332=) c.654C>T (p.Ala218=) n.826C>T n.338C>T n.220C>T c.798C>T (p.Ala266=) c.-4294966174C>T c.672C>T (p.Ala224=) c.600C>T (p.Ala200=) | |
7 | g.139961955C>A | CA458115340 | TBXAS1 | c.856C>A (p.Arg286=) c.*645C>A (n.*645C>A) c.994C>A (p.Arg332=) c.859C>A (p.Arg287=) c.997C>A (p.Arg333=) c.655C>A (p.Arg219=) n.827C>A n.339C>A n.221C>A c.799C>A (p.Arg267=) c.-4294966173C>A c.673C>A (p.Arg225=) c.601C>A (p.Arg201=) | |
7 | g.139961955C= | CA1747341020 | TBXAS1 | c.856C= (p.Arg286=) c.*645C= (n.*645C=) c.994C= (p.Arg332=) c.859C= (p.Arg287=) c.997C= (p.Arg333=) c.655C= (p.Arg219=) n.827C= n.339C= n.221C= c.799C= (p.Arg267=) c.-4294966173C= c.673C= (p.Arg225=) c.601C= (p.Arg201=) | |
7 | g.139961955C>G | CA369584028 | TBXAS1 | c.856C>G (p.Arg286Gly) c.*645C>G (n.*645C>G) c.994C>G (p.Arg332Gly) c.859C>G (p.Arg287Gly) c.997C>G (p.Arg333Gly) c.655C>G (p.Arg219Gly) n.827C>G n.339C>G n.221C>G c.799C>G (p.Arg267Gly) c.-4294966173C>G c.673C>G (p.Arg225Gly) c.601C>G (p.Arg201Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961955C>T | CA4511832 | TBXAS1 | c.856C>T (p.Arg286Ter) c.*645C>T (n.*645C>T) c.994C>T (p.Arg332Ter) c.859C>T (p.Arg287Ter) c.997C>T (p.Arg333Ter) c.655C>T (p.Arg219Ter) n.827C>T n.339C>T n.221C>T c.799C>T (p.Arg267Ter) c.-4294966173C>T c.673C>T (p.Arg225Ter) c.601C>T (p.Arg201Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961956G>A | CA4511833 | TBXAS1 | c.857G>A (p.Arg286Gln) c.*646G>A (n.*646G>A) c.995G>A (p.Arg332Gln) c.860G>A (p.Arg287Gln) c.998G>A (p.Arg333Gln) c.656G>A (p.Arg219Gln) n.828G>A n.340G>A n.222G>A c.800G>A (p.Arg267Gln) c.-4294966172G>A c.674G>A (p.Arg225Gln) c.602G>A (p.Arg201Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.139961956G>C | CA369584035 | TBXAS1 | c.857G>C (p.Arg286Pro) c.*646G>C (n.*646G>C) c.995G>C (p.Arg332Pro) c.860G>C (p.Arg287Pro) c.998G>C (p.Arg333Pro) c.656G>C (p.Arg219Pro) n.828G>C n.340G>C n.222G>C c.800G>C (p.Arg267Pro) c.-4294966172G>C c.674G>C (p.Arg225Pro) c.602G>C (p.Arg201Pro) | |
7 | g.139961956G= | CA1747341021 | TBXAS1 | c.857G= (p.Arg286=) c.*646G= (n.*646G=) c.995G= (p.Arg332=) c.860G= (p.Arg287=) c.998G= (p.Arg333=) c.656G= (p.Arg219=) n.828G= n.340G= n.222G= c.800G= (p.Arg267=) c.-4294966172G= c.674G= (p.Arg225=) c.602G= (p.Arg201=) | |
7 | g.139961956G>T | CA369584032 | TBXAS1 | c.857G>T (p.Arg286Leu) c.*646G>T (n.*646G>T) c.995G>T (p.Arg332Leu) c.860G>T (p.Arg287Leu) c.998G>T (p.Arg333Leu) c.656G>T (p.Arg219Leu) n.828G>T n.340G>T n.222G>T c.800G>T (p.Arg267Leu) c.-4294966172G>T c.674G>T (p.Arg225Leu) c.602G>T (p.Arg201Leu) | |
7 | g.139961957A>C | CA458115341 | TBXAS1 | c.858A>C (p.Arg286=) c.*647A>C (n.*647A>C) c.996A>C (p.Arg332=) c.861A>C (p.Arg287=) c.999A>C (p.Arg333=) c.657A>C (p.Arg219=) n.829A>C n.341A>C n.223A>C c.801A>C (p.Arg267=) c.-4294966171A>C c.675A>C (p.Arg225=) c.603A>C (p.Arg201=) | |
7 | g.139961957A>G | CA458115342 | TBXAS1 | c.858A>G (p.Arg286=) c.*647A>G (n.*647A>G) c.996A>G (p.Arg332=) c.861A>G (p.Arg287=) c.999A>G (p.Arg333=) c.657A>G (p.Arg219=) n.829A>G n.341A>G n.223A>G c.801A>G (p.Arg267=) c.-4294966171A>G c.675A>G (p.Arg225=) c.603A>G (p.Arg201=) | |
7 | g.139961957A>T | CA458115343 | TBXAS1 | c.858A>T (p.Arg286=) c.*647A>T (n.*647A>T) c.996A>T (p.Arg332=) c.861A>T (p.Arg287=) c.999A>T (p.Arg333=) c.657A>T (p.Arg219=) n.829A>T n.341A>T n.223A>T c.801A>T (p.Arg267=) c.-4294966171A>T c.675A>T (p.Arg225=) c.603A>T (p.Arg201=) | |
7 | g.139961958C>A | CA369584037 | TBXAS1 | c.859C>A (p.His287Asn) c.*648C>A (n.*648C>A) c.997C>A (p.His333Asn) c.862C>A (p.His288Asn) c.1000C>A (p.His334Asn) c.658C>A (p.His220Asn) n.830C>A n.342C>A n.224C>A c.802C>A (p.His268Asn) c.-4294966170C>A c.676C>A (p.His226Asn) c.604C>A (p.His202Asn) | |
7 | g.139961958C= | CA1747341022 | TBXAS1 | c.859C= (p.His287=) c.*648C= (n.*648C=) c.997C= (p.His333=) c.862C= (p.His288=) c.1000C= (p.His334=) c.658C= (p.His220=) n.830C= n.342C= n.224C= c.802C= (p.His268=) c.-4294966170C= c.676C= (p.His226=) c.604C= (p.His202=) | |
7 | g.139961958C>G | CA369584041 | TBXAS1 | c.859C>G (p.His287Asp) c.*648C>G (n.*648C>G) c.997C>G (p.His333Asp) c.862C>G (p.His288Asp) c.1000C>G (p.His334Asp) c.658C>G (p.His220Asp) n.830C>G n.342C>G n.224C>G c.802C>G (p.His268Asp) c.-4294966170C>G c.676C>G (p.His226Asp) c.604C>G (p.His202Asp) | |
7 | g.139961958C>T | CA369584039 | TBXAS1 | c.859C>T (p.His287Tyr) c.*648C>T (n.*648C>T) c.997C>T (p.His333Tyr) c.862C>T (p.His288Tyr) c.1000C>T (p.His334Tyr) c.658C>T (p.His220Tyr) n.830C>T n.342C>T n.224C>T c.802C>T (p.His268Tyr) c.-4294966170C>T c.676C>T (p.His226Tyr) c.604C>T (p.His202Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961959A>C | CA369584043 | TBXAS1 | c.860A>C (p.His287Pro) c.*649A>C (n.*649A>C) c.998A>C (p.His333Pro) c.863A>C (p.His288Pro) c.1001A>C (p.His334Pro) c.659A>C (p.His220Pro) n.831A>C n.343A>C n.225A>C c.803A>C (p.His268Pro) c.-4294966169A>C c.677A>C (p.His226Pro) c.605A>C (p.His202Pro) | |
7 | g.139961959A>G | CA369584044 | TBXAS1 | c.860A>G (p.His287Arg) c.*649A>G (n.*649A>G) c.998A>G (p.His333Arg) c.863A>G (p.His288Arg) c.1001A>G (p.His334Arg) c.659A>G (p.His220Arg) n.831A>G n.343A>G n.225A>G c.803A>G (p.His268Arg) c.-4294966169A>G c.677A>G (p.His226Arg) c.605A>G (p.His202Arg) | |
7 | g.139961959A>T | CA369584046 | TBXAS1 | c.860A>T (p.His287Leu) c.*649A>T (n.*649A>T) c.998A>T (p.His333Leu) c.863A>T (p.His288Leu) c.1001A>T (p.His334Leu) c.659A>T (p.His220Leu) n.831A>T n.343A>T n.225A>T c.803A>T (p.His268Leu) c.-4294966169A>T c.677A>T (p.His226Leu) c.605A>T (p.His202Leu) | |
7 | g.139961960T>A | CA369584048 | TBXAS1 | c.861T>A (p.His287Gln) c.*650T>A (n.*650T>A) c.999T>A (p.His333Gln) c.864T>A (p.His288Gln) c.1002T>A (p.His334Gln) c.660T>A (p.His220Gln) n.832T>A n.344T>A n.226T>A c.804T>A (p.His268Gln) c.-4294966168T>A c.678T>A (p.His226Gln) c.606T>A (p.His202Gln) | |
7 | g.139961960T>C | CA458115345 | TBXAS1 | c.861T>C (p.His287=) c.*650T>C (n.*650T>C) c.999T>C (p.His333=) c.864T>C (p.His288=) c.1002T>C (p.His334=) c.660T>C (p.His220=) n.832T>C n.344T>C n.226T>C c.804T>C (p.His268=) c.-4294966168T>C c.678T>C (p.His226=) c.606T>C (p.His202=) | |
7 | g.139961960T>G | CA369584051 | TBXAS1 | c.861T>G (p.His287Gln) c.*650T>G (n.*650T>G) c.999T>G (p.His333Gln) c.864T>G (p.His288Gln) c.1002T>G (p.His334Gln) c.660T>G (p.His220Gln) n.832T>G n.344T>G n.226T>G c.804T>G (p.His268Gln) c.-4294966168T>G c.678T>G (p.His226Gln) c.606T>G (p.His202Gln) | |
7 | g.139961961T>A | CA369584056 | TBXAS1 | c.862T>A (p.Ser288Thr) c.*651T>A (n.*651T>A) c.1000T>A (p.Ser334Thr) c.865T>A (p.Ser289Thr) c.1003T>A (p.Ser335Thr) c.661T>A (p.Ser221Thr) n.833T>A n.345T>A n.227T>A c.805T>A (p.Ser269Thr) c.-4294966167T>A c.679T>A (p.Ser227Thr) c.607T>A (p.Ser203Thr) | |
7 | g.139961961T>C | CA369584058 | TBXAS1 | c.862T>C (p.Ser288Pro) c.*651T>C (n.*651T>C) c.1000T>C (p.Ser334Pro) c.865T>C (p.Ser289Pro) c.1003T>C (p.Ser335Pro) c.661T>C (p.Ser221Pro) n.833T>C n.345T>C n.227T>C c.805T>C (p.Ser269Pro) c.-4294966167T>C c.679T>C (p.Ser227Pro) c.607T>C (p.Ser203Pro) | |
7 | g.139961961T>G | CA369584061 | TBXAS1 | c.862T>G (p.Ser288Ala) c.*651T>G (n.*651T>G) c.1000T>G (p.Ser334Ala) c.865T>G (p.Ser289Ala) c.1003T>G (p.Ser335Ala) c.661T>G (p.Ser221Ala) n.833T>G n.345T>G n.227T>G c.805T>G (p.Ser269Ala) c.-4294966167T>G c.679T>G (p.Ser227Ala) c.607T>G (p.Ser203Ala) | |
7 | g.139961962C>A | CA369584067 | TBXAS1 | c.863C>A (p.Ser288Tyr) c.*652C>A (n.*652C>A) c.1001C>A (p.Ser334Tyr) c.866C>A (p.Ser289Tyr) c.1004C>A (p.Ser335Tyr) c.662C>A (p.Ser221Tyr) n.834C>A n.346C>A n.228C>A c.806C>A (p.Ser269Tyr) c.-4294966166C>A c.680C>A (p.Ser227Tyr) c.608C>A (p.Ser203Tyr) | |
7 | g.139961962C= | CA1747341023 | TBXAS1 | c.863C= (p.Ser288=) c.*652C= (n.*652C=) c.1001C= (p.Ser334=) c.866C= (p.Ser289=) c.1004C= (p.Ser335=) c.662C= (p.Ser221=) n.834C= n.346C= n.228C= c.806C= (p.Ser269=) c.-4294966166C= c.680C= (p.Ser227=) c.608C= (p.Ser203=) | |
7 | g.139961962C>G | CA369584069 | TBXAS1 | c.863C>G (p.Ser288Cys) c.*652C>G (n.*652C>G) c.1001C>G (p.Ser334Cys) c.866C>G (p.Ser289Cys) c.1004C>G (p.Ser335Cys) c.662C>G (p.Ser221Cys) n.834C>G n.346C>G n.228C>G c.806C>G (p.Ser269Cys) c.-4294966166C>G c.680C>G (p.Ser227Cys) c.608C>G (p.Ser203Cys) | dbSNP gnomAD v4 |
7 | g.139961962C>T | CA369584073 | TBXAS1 | c.863C>T (p.Ser288Phe) c.*652C>T (n.*652C>T) c.1001C>T (p.Ser334Phe) c.866C>T (p.Ser289Phe) c.1004C>T (p.Ser335Phe) c.662C>T (p.Ser221Phe) n.834C>T n.346C>T n.228C>T c.806C>T (p.Ser269Phe) c.-4294966166C>T c.680C>T (p.Ser227Phe) c.608C>T (p.Ser203Phe) | gnomAD v4 |
7 | g.139961963T>A | CA458115352 | TBXAS1 | c.864T>A (p.Ser288=) c.*653T>A (n.*653T>A) c.1002T>A (p.Ser334=) c.867T>A (p.Ser289=) c.1005T>A (p.Ser335=) c.663T>A (p.Ser221=) n.835T>A n.347T>A n.229T>A c.807T>A (p.Ser269=) c.-4294966165T>A c.681T>A (p.Ser227=) c.609T>A (p.Ser203=) | |
7 | g.139961963T>C | CA458115351 | TBXAS1 | c.864T>C (p.Ser288=) c.*653T>C (n.*653T>C) c.1002T>C (p.Ser334=) c.867T>C (p.Ser289=) c.1005T>C (p.Ser335=) c.663T>C (p.Ser221=) n.835T>C n.347T>C n.229T>C c.807T>C (p.Ser269=) c.-4294966165T>C c.681T>C (p.Ser227=) c.609T>C (p.Ser203=) | |
7 | g.139961963T>G | CA458115350 | TBXAS1 | c.864T>G (p.Ser288=) c.*653T>G (n.*653T>G) c.1002T>G (p.Ser334=) c.867T>G (p.Ser289=) c.1005T>G (p.Ser335=) c.663T>G (p.Ser221=) n.835T>G n.347T>G n.229T>G c.807T>G (p.Ser269=) c.-4294966165T>G c.681T>G (p.Ser227=) c.609T>G (p.Ser203=) | |
7 | g.139961963T= | CA1747341024 | TBXAS1 | c.864T= (p.Ser288=) c.*653T= (n.*653T=) c.1002T= (p.Ser334=) c.867T= (p.Ser289=) c.1005T= (p.Ser335=) c.663T= (p.Ser221=) n.835T= n.347T= n.229T= c.807T= (p.Ser269=) c.-4294966165T= c.681T= (p.Ser227=) c.609T= (p.Ser203=) | |
7 | g.139961963_139961964insC | CA1747341025 | TBXAS1 | c.864_865insC (p.Ala289ArgfsTer10) c.*653_*654insC (n.*653_*654insC) c.1002_1003insC (p.Ala335ArgfsTer10) c.867_868insC (p.Ala290ArgfsTer10) c.1005_1006insC (p.Ala336ArgfsTer10) c.663_664insC (p.Ala222ArgfsTer10) n.835_836insC n.347_348insC n.229_230insC c.807_808insC (p.Ala270ArgfsTer10) c.-4294966165_-4294966164insC c.681_682insC (p.Ala228ArgfsTer10) c.609_610insC (p.Ala204ArgfsTer10) | dbSNP gnomAD v4 |
7 | g.139961964G>A | CA369584080 | TBXAS1 | c.865G>A (p.Ala289Thr) c.*654G>A (n.*654G>A) c.1003G>A (p.Ala335Thr) c.868G>A (p.Ala290Thr) c.1006G>A (p.Ala336Thr) c.664G>A (p.Ala222Thr) n.836G>A n.348G>A n.230G>A c.808G>A (p.Ala270Thr) c.-4294966164G>A c.682G>A (p.Ala228Thr) c.610G>A (p.Ala204Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961964G>C | CA369584076 | TBXAS1 | c.865G>C (p.Ala289Pro) c.*654G>C (n.*654G>C) c.1003G>C (p.Ala335Pro) c.868G>C (p.Ala290Pro) c.1006G>C (p.Ala336Pro) c.664G>C (p.Ala222Pro) n.836G>C n.348G>C n.230G>C c.808G>C (p.Ala270Pro) c.-4294966164G>C c.682G>C (p.Ala228Pro) c.610G>C (p.Ala204Pro) | |
7 | g.139961964G= | CA1747341026 | TBXAS1 | c.865G= (p.Ala289=) c.*654G= (n.*654G=) c.1003G= (p.Ala335=) c.868G= (p.Ala290=) c.1006G= (p.Ala336=) c.664G= (p.Ala222=) n.836G= n.348G= n.230G= c.808G= (p.Ala270=) c.-4294966164G= c.682G= (p.Ala228=) c.610G= (p.Ala204=) | |
7 | g.139961964G>T | CA369584077 | TBXAS1 | c.865G>T (p.Ala289Ser) c.*654G>T (n.*654G>T) c.1003G>T (p.Ala335Ser) c.868G>T (p.Ala290Ser) c.1006G>T (p.Ala336Ser) c.664G>T (p.Ala222Ser) n.836G>T n.348G>T n.230G>T c.808G>T (p.Ala270Ser) c.-4294966164G>T c.682G>T (p.Ala228Ser) c.610G>T (p.Ala204Ser) | dbSNP gnomAD v4 |
7 | g.139961965C>A | CA369584083 | TBXAS1 | c.866C>A (p.Ala289Glu) c.*655C>A (n.*655C>A) c.1004C>A (p.Ala335Glu) c.869C>A (p.Ala290Glu) c.1007C>A (p.Ala336Glu) c.665C>A (p.Ala222Glu) n.837C>A n.349C>A n.231C>A c.809C>A (p.Ala270Glu) c.-4294966163C>A c.683C>A (p.Ala228Glu) c.611C>A (p.Ala204Glu) | |
7 | g.139961965C>G | CA369584086 | TBXAS1 | c.866C>G (p.Ala289Gly) c.*655C>G (n.*655C>G) c.1004C>G (p.Ala335Gly) c.869C>G (p.Ala290Gly) c.1007C>G (p.Ala336Gly) c.665C>G (p.Ala222Gly) n.837C>G n.349C>G n.231C>G c.809C>G (p.Ala270Gly) c.-4294966163C>G c.683C>G (p.Ala228Gly) c.611C>G (p.Ala204Gly) | |
7 | g.139961965C>T | CA369584088 | TBXAS1 | c.866C>T (p.Ala289Val) c.*655C>T (n.*655C>T) c.1004C>T (p.Ala335Val) c.869C>T (p.Ala290Val) c.1007C>T (p.Ala336Val) c.665C>T (p.Ala222Val) n.837C>T n.349C>T n.231C>T c.809C>T (p.Ala270Val) c.-4294966163C>T c.683C>T (p.Ala228Val) c.611C>T (p.Ala204Val) | |
7 | g.139961965dup | CA2685190566 | TBXAS1 | c.866dup (p.Ser290LysfsTer9) c.*655dup (n.*655dup) c.1004dup (p.Ser336LysfsTer9) c.869dup (p.Ser291LysfsTer9) c.1007dup (p.Ser337LysfsTer9) c.665dup (p.Ser223LysfsTer9) n.837dup n.349dup n.231dup c.809dup (p.Ser271LysfsTer9) c.-4294966163dup c.683dup (p.Ser229LysfsTer9) c.611dup (p.Ser205LysfsTer9) | gnomAD v4 |
7 | g.139961966A>C | CA458115354 | TBXAS1 | c.867A>C (p.Ala289=) c.*656A>C (n.*656A>C) c.1005A>C (p.Ala335=) c.870A>C (p.Ala290=) c.1008A>C (p.Ala336=) c.666A>C (p.Ala222=) n.838A>C n.350A>C n.232A>C c.810A>C (p.Ala270=) c.-4294966162A>C c.684A>C (p.Ala228=) c.612A>C (p.Ala204=) | |
7 | g.139961966A>G | CA458115356 | TBXAS1 | c.867A>G (p.Ala289=) c.*656A>G (n.*656A>G) c.1005A>G (p.Ala335=) c.870A>G (p.Ala290=) c.1008A>G (p.Ala336=) c.666A>G (p.Ala222=) n.838A>G n.350A>G n.232A>G c.810A>G (p.Ala270=) c.-4294966162A>G c.684A>G (p.Ala228=) c.612A>G (p.Ala204=) | |
7 | g.139961966A>T | CA458115355 | TBXAS1 | c.867A>T (p.Ala289=) c.*656A>T (n.*656A>T) c.1005A>T (p.Ala335=) c.870A>T (p.Ala290=) c.1008A>T (p.Ala336=) c.666A>T (p.Ala222=) n.838A>T n.350A>T n.232A>T c.810A>T (p.Ala270=) c.-4294966162A>T c.684A>T (p.Ala228=) c.612A>T (p.Ala204=) | |
7 | g.139961967A>C | CA369584092 | TBXAS1 | c.868A>C (p.Ser290Arg) c.*657A>C (n.*657A>C) c.1006A>C (p.Ser336Arg) c.871A>C (p.Ser291Arg) c.1009A>C (p.Ser337Arg) c.667A>C (p.Ser223Arg) n.839A>C n.351A>C n.233A>C c.811A>C (p.Ser271Arg) c.-4294966161A>C c.685A>C (p.Ser229Arg) c.613A>C (p.Ser205Arg) | |
7 | g.139961967A>G | CA369584095 | TBXAS1 | c.868A>G (p.Ser290Gly) c.*657A>G (n.*657A>G) c.1006A>G (p.Ser336Gly) c.871A>G (p.Ser291Gly) c.1009A>G (p.Ser337Gly) c.667A>G (p.Ser223Gly) n.839A>G n.351A>G n.233A>G c.811A>G (p.Ser271Gly) c.-4294966161A>G c.685A>G (p.Ser229Gly) c.613A>G (p.Ser205Gly) | |
7 | g.139961967A>T | CA369584098 | TBXAS1 | c.868A>T (p.Ser290Cys) c.*657A>T (n.*657A>T) c.1006A>T (p.Ser336Cys) c.871A>T (p.Ser291Cys) c.1009A>T (p.Ser337Cys) c.667A>T (p.Ser223Cys) n.839A>T n.351A>T n.233A>T c.811A>T (p.Ser271Cys) c.-4294966161A>T c.685A>T (p.Ser229Cys) c.613A>T (p.Ser205Cys) | |
7 | g.139961968G>A | CA369584104 | TBXAS1 | c.869G>A (p.Ser290Asn) c.*658G>A (n.*658G>A) c.1007G>A (p.Ser336Asn) c.872G>A (p.Ser291Asn) c.1010G>A (p.Ser337Asn) c.668G>A (p.Ser223Asn) n.840G>A n.352G>A n.234G>A c.812G>A (p.Ser271Asn) c.-4294966160G>A c.686G>A (p.Ser229Asn) c.614G>A (p.Ser205Asn) | gnomAD v4 |
7 | g.139961968G>C | CA369584106 | TBXAS1 | c.869G>C (p.Ser290Thr) c.*658G>C (n.*658G>C) c.1007G>C (p.Ser336Thr) c.872G>C (p.Ser291Thr) c.1010G>C (p.Ser337Thr) c.668G>C (p.Ser223Thr) n.840G>C n.352G>C n.234G>C c.812G>C (p.Ser271Thr) c.-4294966160G>C c.686G>C (p.Ser229Thr) c.614G>C (p.Ser205Thr) | gnomAD v4 |
7 | g.139961968G>T | CA369584111 | TBXAS1 | c.869G>T (p.Ser290Ile) c.*658G>T (n.*658G>T) c.1007G>T (p.Ser336Ile) c.872G>T (p.Ser291Ile) c.1010G>T (p.Ser337Ile) c.668G>T (p.Ser223Ile) n.840G>T n.352G>T n.234G>T c.812G>T (p.Ser271Ile) c.-4294966160G>T c.686G>T (p.Ser229Ile) c.614G>T (p.Ser205Ile) | |
7 | g.139961969T>A | CA369584114 | TBXAS1 | c.870T>A (p.Ser290Arg) c.*659T>A (n.*659T>A) c.1008T>A (p.Ser336Arg) c.873T>A (p.Ser291Arg) c.1011T>A (p.Ser337Arg) c.669T>A (p.Ser223Arg) n.841T>A n.353T>A n.235T>A c.813T>A (p.Ser271Arg) c.-4294966159T>A c.687T>A (p.Ser229Arg) c.615T>A (p.Ser205Arg) | |
7 | g.139961969T>C | CA458115358 | TBXAS1 | c.870T>C (p.Ser290=) c.*659T>C (n.*659T>C) c.1008T>C (p.Ser336=) c.873T>C (p.Ser291=) c.1011T>C (p.Ser337=) c.669T>C (p.Ser223=) n.841T>C n.353T>C n.235T>C c.813T>C (p.Ser271=) c.-4294966159T>C c.687T>C (p.Ser229=) c.615T>C (p.Ser205=) | gnomAD v4 |
7 | g.139961969T>G | CA369584117 | TBXAS1 | c.870T>G (p.Ser290Arg) c.*659T>G (n.*659T>G) c.1008T>G (p.Ser336Arg) c.873T>G (p.Ser291Arg) c.1011T>G (p.Ser337Arg) c.669T>G (p.Ser223Arg) n.841T>G n.353T>G n.235T>G c.813T>G (p.Ser271Arg) c.-4294966159T>G c.687T>G (p.Ser229Arg) c.615T>G (p.Ser205Arg) | |
7 | g.139961970C>A | CA369584126 | TBXAS1 | c.871C>A (p.Pro291Thr) c.*660C>A (n.*660C>A) c.1009C>A (p.Pro337Thr) c.874C>A (p.Pro292Thr) c.1012C>A (p.Pro338Thr) c.670C>A (p.Pro224Thr) n.842C>A n.354C>A n.236C>A c.814C>A (p.Pro272Thr) c.-4294966158C>A c.688C>A (p.Pro230Thr) c.616C>A (p.Pro206Thr) | |
7 | g.139961970C= | CA1747341027 | TBXAS1 | c.871C= (p.Pro291=) c.*660C= (n.*660C=) c.1009C= (p.Pro337=) c.874C= (p.Pro292=) c.1012C= (p.Pro338=) c.670C= (p.Pro224=) n.842C= n.354C= n.236C= c.814C= (p.Pro272=) c.-4294966158C= c.688C= (p.Pro230=) c.616C= (p.Pro206=) | |
7 | g.139961970C>G | CA369584130 | TBXAS1 | c.871C>G (p.Pro291Ala) c.*660C>G (n.*660C>G) c.1009C>G (p.Pro337Ala) c.874C>G (p.Pro292Ala) c.1012C>G (p.Pro338Ala) c.670C>G (p.Pro224Ala) n.842C>G n.354C>G n.236C>G c.814C>G (p.Pro272Ala) c.-4294966158C>G c.688C>G (p.Pro230Ala) c.616C>G (p.Pro206Ala) | |
7 | g.139961970C>T | CA369584121 | TBXAS1 | c.871C>T (p.Pro291Ser) c.*660C>T (n.*660C>T) c.1009C>T (p.Pro337Ser) c.874C>T (p.Pro292Ser) c.1012C>T (p.Pro338Ser) c.670C>T (p.Pro224Ser) n.842C>T n.354C>T n.236C>T c.814C>T (p.Pro272Ser) c.-4294966158C>T c.688C>T (p.Pro230Ser) c.616C>T (p.Pro206Ser) | ClinVar dbSNP |
7 | g.139961971C>A | CA369584134 | TBXAS1 | c.872C>A (p.Pro291His) c.*661C>A (n.*661C>A) c.1010C>A (p.Pro337His) c.875C>A (p.Pro292His) c.1013C>A (p.Pro338His) c.671C>A (p.Pro224His) n.843C>A n.355C>A n.237C>A c.815C>A (p.Pro272His) c.-4294966157C>A c.689C>A (p.Pro230His) c.617C>A (p.Pro206His) | |
7 | g.139961971C>G | CA369584137 | TBXAS1 | c.872C>G (p.Pro291Arg) c.*661C>G (n.*661C>G) c.1010C>G (p.Pro337Arg) c.875C>G (p.Pro292Arg) c.1013C>G (p.Pro338Arg) c.671C>G (p.Pro224Arg) n.843C>G n.355C>G n.237C>G c.815C>G (p.Pro272Arg) c.-4294966157C>G c.689C>G (p.Pro230Arg) c.617C>G (p.Pro206Arg) | |
7 | g.139961971C>T | CA369584139 | TBXAS1 | c.872C>T (p.Pro291Leu) c.*661C>T (n.*661C>T) c.1010C>T (p.Pro337Leu) c.875C>T (p.Pro292Leu) c.1013C>T (p.Pro338Leu) c.671C>T (p.Pro224Leu) n.843C>T n.355C>T n.237C>T c.815C>T (p.Pro272Leu) c.-4294966157C>T c.689C>T (p.Pro230Leu) c.617C>T (p.Pro206Leu) | |
7 | g.139961972C>A | CA458115361 | TBXAS1 | c.873C>A (p.Pro291=) c.*662C>A (n.*662C>A) c.1011C>A (p.Pro337=) c.876C>A (p.Pro292=) c.1014C>A (p.Pro338=) c.672C>A (p.Pro224=) n.844C>A n.356C>A n.238C>A c.816C>A (p.Pro272=) c.-4294966156C>A c.690C>A (p.Pro230=) c.618C>A (p.Pro206=) | |
7 | g.139961972C>G | CA458115363 | TBXAS1 | c.873C>G (p.Pro291=) c.*662C>G (n.*662C>G) c.1011C>G (p.Pro337=) c.876C>G (p.Pro292=) c.1014C>G (p.Pro338=) c.672C>G (p.Pro224=) n.844C>G n.356C>G n.238C>G c.816C>G (p.Pro272=) c.-4294966156C>G c.690C>G (p.Pro230=) c.618C>G (p.Pro206=) | |
7 | g.139961972C>T | CA458115364 | TBXAS1 | c.873C>T (p.Pro291=) c.*662C>T (n.*662C>T) c.1011C>T (p.Pro337=) c.876C>T (p.Pro292=) c.1014C>T (p.Pro338=) c.672C>T (p.Pro224=) n.844C>T n.356C>T n.238C>T c.816C>T (p.Pro272=) c.-4294966156C>T c.690C>T (p.Pro230=) c.618C>T (p.Pro206=) | |
7 | g.139961973A= | CA1747341028 | TBXAS1 | c.874A= (p.Met292=) c.*663A= (n.*663A=) c.1012A= (p.Met338=) c.877A= (p.Met293=) c.1015A= (p.Met339=) c.673A= (p.Met225=) n.845A= n.357A= n.239A= c.817A= (p.Met273=) c.-4294966155A= c.691A= (p.Met231=) c.619A= (p.Met207=) | |
7 | g.139961973A>C | CA369584146 | TBXAS1 | c.874A>C (p.Met292Leu) c.*663A>C (n.*663A>C) c.1012A>C (p.Met338Leu) c.877A>C (p.Met293Leu) c.1015A>C (p.Met339Leu) c.673A>C (p.Met225Leu) n.845A>C n.357A>C n.239A>C c.817A>C (p.Met273Leu) c.-4294966155A>C c.691A>C (p.Met231Leu) c.619A>C (p.Met207Leu) | |
7 | g.139961973A>G | CA369584149 | TBXAS1 | c.874A>G (p.Met292Val) c.*663A>G (n.*663A>G) c.1012A>G (p.Met338Val) c.877A>G (p.Met293Val) c.1015A>G (p.Met339Val) c.673A>G (p.Met225Val) n.845A>G n.357A>G n.239A>G c.817A>G (p.Met273Val) c.-4294966155A>G c.691A>G (p.Met231Val) c.619A>G (p.Met207Val) | dbSNP gnomAD v4 |
7 | g.139961973A>T | CA369584152 | TBXAS1 | c.874A>T (p.Met292Leu) c.*663A>T (n.*663A>T) c.1012A>T (p.Met338Leu) c.877A>T (p.Met293Leu) c.1015A>T (p.Met339Leu) c.673A>T (p.Met225Leu) n.845A>T n.357A>T n.239A>T c.817A>T (p.Met273Leu) c.-4294966155A>T c.691A>T (p.Met231Leu) c.619A>T (p.Met207Leu) | |
7 | g.139961974T>A | CA369584157 | TBXAS1 | c.875T>A (p.Met292Lys) c.*664T>A (n.*664T>A) c.1013T>A (p.Met338Lys) c.878T>A (p.Met293Lys) c.1016T>A (p.Met339Lys) c.674T>A (p.Met225Lys) n.846T>A n.358T>A n.240T>A c.818T>A (p.Met273Lys) c.-4294966154T>A c.692T>A (p.Met231Lys) c.620T>A (p.Met207Lys) | |
7 | g.139961974T>C | CA4511834 | TBXAS1 | c.875T>C (p.Met292Thr) c.*664T>C (n.*664T>C) c.1013T>C (p.Met338Thr) c.878T>C (p.Met293Thr) c.1016T>C (p.Met339Thr) c.674T>C (p.Met225Thr) n.846T>C n.358T>C n.240T>C c.818T>C (p.Met273Thr) c.-4294966154T>C c.692T>C (p.Met231Thr) c.620T>C (p.Met207Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961974T>G | CA369584161 | TBXAS1 | c.875T>G (p.Met292Arg) c.*664T>G (n.*664T>G) c.1013T>G (p.Met338Arg) c.878T>G (p.Met293Arg) c.1016T>G (p.Met339Arg) c.674T>G (p.Met225Arg) n.846T>G n.358T>G n.240T>G c.818T>G (p.Met273Arg) c.-4294966154T>G c.692T>G (p.Met231Arg) c.620T>G (p.Met207Arg) | |
7 | g.139961974T= | CA1747341029 | TBXAS1 | c.875T= (p.Met292=) c.*664T= (n.*664T=) c.1013T= (p.Met338=) c.878T= (p.Met293=) c.1016T= (p.Met339=) c.674T= (p.Met225=) n.846T= n.358T= n.240T= c.818T= (p.Met273=) c.-4294966154T= c.692T= (p.Met231=) c.620T= (p.Met207=) | |
7 | g.139961975G>A | CA4511835 | TBXAS1 | c.876G>A (p.Met292Ile) c.*665G>A (n.*665G>A) c.1014G>A (p.Met338Ile) c.879G>A (p.Met293Ile) c.1017G>A (p.Met339Ile) c.675G>A (p.Met225Ile) n.847G>A n.359G>A n.241G>A c.819G>A (p.Met273Ile) c.-4294966153G>A c.693G>A (p.Met231Ile) c.621G>A (p.Met207Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139961975G>C | CA369584169 | TBXAS1 | c.876G>C (p.Met292Ile) c.*665G>C (n.*665G>C) c.1014G>C (p.Met338Ile) c.879G>C (p.Met293Ile) c.1017G>C (p.Met339Ile) c.675G>C (p.Met225Ile) n.847G>C n.359G>C n.241G>C c.819G>C (p.Met273Ile) c.-4294966153G>C c.693G>C (p.Met231Ile) c.621G>C (p.Met207Ile) | |
7 | g.139961975G= | CA1747341030 | TBXAS1 | c.876G= (p.Met292=) c.*665G= (n.*665G=) c.1014G= (p.Met338=) c.879G= (p.Met293=) c.1017G= (p.Met339=) c.675G= (p.Met225=) n.847G= n.359G= n.241G= c.819G= (p.Met273=) c.-4294966153G= c.693G= (p.Met231=) c.621G= (p.Met207=) | |
7 | g.139961975G>T | CA369584173 | TBXAS1 | c.876G>T (p.Met292Ile) c.*665G>T (n.*665G>T) c.1014G>T (p.Met338Ile) c.879G>T (p.Met293Ile) c.1017G>T (p.Met339Ile) c.675G>T (p.Met225Ile) n.847G>T n.359G>T n.241G>T c.819G>T (p.Met273Ile) c.-4294966153G>T c.693G>T (p.Met231Ile) c.621G>T (p.Met207Ile) | |
7 | g.139961976G>A | CA369584179 | TBXAS1 | c.877G>A (p.Gly293Ser) c.*666G>A (n.*666G>A) c.1015G>A (p.Gly339Ser) c.880G>A (p.Gly294Ser) c.1018G>A (p.Gly340Ser) c.676G>A (p.Gly226Ser) n.848G>A n.360G>A n.242G>A c.820G>A (p.Gly274Ser) c.-4294966152G>A c.694G>A (p.Gly232Ser) c.622G>A (p.Gly208Ser) | |
7 | g.139961976G>C | CA4511836 | TBXAS1 | c.877G>C (p.Gly293Arg) c.*666G>C (n.*666G>C) c.1015G>C (p.Gly339Arg) c.880G>C (p.Gly294Arg) c.1018G>C (p.Gly340Arg) c.676G>C (p.Gly226Arg) n.848G>C n.360G>C n.242G>C c.820G>C (p.Gly274Arg) c.-4294966152G>C c.694G>C (p.Gly232Arg) c.622G>C (p.Gly208Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139961976G= | CA1747341031 | TBXAS1 | c.877G= (p.Gly293=) c.*666G= (n.*666G=) c.1015G= (p.Gly339=) c.880G= (p.Gly294=) c.1018G= (p.Gly340=) c.676G= (p.Gly226=) n.848G= n.360G= n.242G= c.820G= (p.Gly274=) c.-4294966152G= c.694G= (p.Gly232=) c.622G= (p.Gly208=) | |
7 | g.139961976G>T | CA369584176 | TBXAS1 | c.877G>T (p.Gly293Cys) c.*666G>T (n.*666G>T) c.1015G>T (p.Gly339Cys) c.880G>T (p.Gly294Cys) c.1018G>T (p.Gly340Cys) c.676G>T (p.Gly226Cys) n.848G>T n.360G>T n.242G>T c.820G>T (p.Gly274Cys) c.-4294966152G>T c.694G>T (p.Gly232Cys) c.622G>T (p.Gly208Cys) | |
7 | g.139961977G>A | CA4511837 | TBXAS1 | c.878G>A (p.Gly293Asp) c.*667G>A (n.*667G>A) c.1016G>A (p.Gly339Asp) c.881G>A (p.Gly294Asp) c.1019G>A (p.Gly340Asp) c.677G>A (p.Gly226Asp) n.849G>A n.361G>A n.243G>A c.821G>A (p.Gly274Asp) c.-4294966151G>A c.695G>A (p.Gly232Asp) c.623G>A (p.Gly208Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139961977G>C | CA369584190 | TBXAS1 | c.878G>C (p.Gly293Ala) c.*667G>C (n.*667G>C) c.1016G>C (p.Gly339Ala) c.881G>C (p.Gly294Ala) c.1019G>C (p.Gly340Ala) c.677G>C (p.Gly226Ala) n.849G>C n.361G>C n.243G>C c.821G>C (p.Gly274Ala) c.-4294966151G>C c.695G>C (p.Gly232Ala) c.623G>C (p.Gly208Ala) | |
7 | g.139961977G= | CA1747341032 | TBXAS1 | c.878G= (p.Gly293=) c.*667G= (n.*667G=) c.1016G= (p.Gly339=) c.881G= (p.Gly294=) c.1019G= (p.Gly340=) c.677G= (p.Gly226=) n.849G= n.361G= n.243G= c.821G= (p.Gly274=) c.-4294966151G= c.695G= (p.Gly232=) c.623G= (p.Gly208=) | |
7 | g.139961977G>T | CA369584193 | TBXAS1 | c.878G>T (p.Gly293Val) c.*667G>T (n.*667G>T) c.1016G>T (p.Gly339Val) c.881G>T (p.Gly294Val) c.1019G>T (p.Gly340Val) c.677G>T (p.Gly226Val) n.849G>T n.361G>T n.243G>T c.821G>T (p.Gly274Val) c.-4294966151G>T c.695G>T (p.Gly232Val) c.623G>T (p.Gly208Val) | COSMIC COSMIC |
7 | g.139961977_139961995delinsGCGTGCAAGACTTTGACAT | CA1747341033 | TBXAS1 | c.878_896delinsGCGTGCAAGACTTTGACAT (p.Gly293=) c.*667_*685delinsGCGTGCAAGACTTTGACAT (n.*667_*685delinsGCGTGCAAGACTTTGACAT) c.1016_1034delinsGCGTGCAAGACTTTGACAT (p.Gly339=) c.881_899delinsGCGTGCAAGACTTTGACAT (p.Gly294=) c.1019_1037delinsGCGTGCAAGACTTTGACAT (p.Gly340=) c.677_695delinsGCGTGCAAGACTTTGACAT (p.Gly226=) n.849_867delinsGCGTGCAAGACTTTGACAT n.361_379delinsGCGTGCAAGACTTTGACAT n.243_261delinsGCGTGCAAGACTTTGACAT c.821_839delinsGCGTGCAAGACTTTGACAT (p.Gly274=) c.-4294966151_-4294966133delinsGCGTGCAAGACTTTGACAT c.695_713delinsGCGTGCAAGACTTTGACAT (p.Gly232=) c.623_641delinsGCGTGCAAGACTTTGACAT (p.Gly208=) | |
7 | g.139961978C>A | CA4511839 | TBXAS1 | c.879C>A (p.Gly293=) c.*668C>A (n.*668C>A) c.1017C>A (p.Gly339=) c.882C>A (p.Gly294=) c.1020C>A (p.Gly340=) c.678C>A (p.Gly226=) n.850C>A n.362C>A n.244C>A c.822C>A (p.Gly274=) c.-4294966150C>A c.696C>A (p.Gly232=) c.624C>A (p.Gly208=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961978C= | CA1747341034 | TBXAS1 | c.879C= (p.Gly293=) c.*668C= (n.*668C=) c.1017C= (p.Gly339=) c.882C= (p.Gly294=) c.1020C= (p.Gly340=) c.678C= (p.Gly226=) n.850C= n.362C= n.244C= c.822C= (p.Gly274=) c.-4294966150C= c.696C= (p.Gly232=) c.624C= (p.Gly208=) | |
7 | g.139961978C>G | CA458115368 | TBXAS1 | c.879C>G (p.Gly293=) c.*668C>G (n.*668C>G) c.1017C>G (p.Gly339=) c.882C>G (p.Gly294=) c.1020C>G (p.Gly340=) c.678C>G (p.Gly226=) n.850C>G n.362C>G n.244C>G c.822C>G (p.Gly274=) c.-4294966150C>G c.696C>G (p.Gly232=) c.624C>G (p.Gly208=) | dbSNP |
7 | g.139961978C>T | CA4511838 | TBXAS1 | c.879C>T (p.Gly293=) c.*668C>T (n.*668C>T) c.1017C>T (p.Gly339=) c.882C>T (p.Gly294=) c.1020C>T (p.Gly340=) c.678C>T (p.Gly226=) n.850C>T n.362C>T n.244C>T c.822C>T (p.Gly274=) c.-4294966150C>T c.696C>T (p.Gly232=) c.624C>T (p.Gly208=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961981_139961998del | CA1747341035 | TBXAS1 | c.882_899del (p.Gln295_Val300del) c.*671_*688del (n.*671_*688del) c.1020_1037del (p.Gln341_Val346del) c.885_902del (p.Gln296_Val301del) c.1023_1040del (p.Gln342_Val347del) c.681_698del (p.Gln228_Val233del) n.853_870del n.365_382del n.247_264del c.825_842del (p.Gln276_Val281del) c.-4294966147_-4294966130del c.699_716del (p.Gln234_Val239del) c.627_644del (p.Gln210_Val215del) | dbSNP |
7 | g.139961979G>A | CA4511840 | TBXAS1 | c.880G>A (p.Val294Met) c.*669G>A (n.*669G>A) c.1018G>A (p.Val340Met) c.883G>A (p.Val295Met) c.1021G>A (p.Val341Met) c.679G>A (p.Val227Met) n.851G>A n.363G>A n.245G>A c.823G>A (p.Val275Met) c.-4294966149G>A c.697G>A (p.Val233Met) c.625G>A (p.Val209Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961979G>C | CA369584204 | TBXAS1 | c.880G>C (p.Val294Leu) c.*669G>C (n.*669G>C) c.1018G>C (p.Val340Leu) c.883G>C (p.Val295Leu) c.1021G>C (p.Val341Leu) c.679G>C (p.Val227Leu) n.851G>C n.363G>C n.245G>C c.823G>C (p.Val275Leu) c.-4294966149G>C c.697G>C (p.Val233Leu) c.625G>C (p.Val209Leu) | |
7 | g.139961979G= | CA1747341036 | TBXAS1 | c.880G= (p.Val294=) c.*669G= (n.*669G=) c.1018G= (p.Val340=) c.883G= (p.Val295=) c.1021G= (p.Val341=) c.679G= (p.Val227=) n.851G= n.363G= n.245G= c.823G= (p.Val275=) c.-4294966149G= c.697G= (p.Val233=) c.625G= (p.Val209=) | |
7 | g.139961979G>T | CA4511841 | TBXAS1 | c.880G>T (p.Val294Leu) c.*669G>T (n.*669G>T) c.1018G>T (p.Val340Leu) c.883G>T (p.Val295Leu) c.1021G>T (p.Val341Leu) c.679G>T (p.Val227Leu) n.851G>T n.363G>T n.245G>T c.823G>T (p.Val275Leu) c.-4294966149G>T c.697G>T (p.Val233Leu) c.625G>T (p.Val209Leu) | dbSNP ExAC gnomAD v2 |
7 | g.139961980T>A | CA369584212 | TBXAS1 | c.881T>A (p.Val294Glu) c.*670T>A (n.*670T>A) c.1019T>A (p.Val340Glu) c.884T>A (p.Val295Glu) c.1022T>A (p.Val341Glu) c.680T>A (p.Val227Glu) n.852T>A n.364T>A n.246T>A c.824T>A (p.Val275Glu) c.-4294966148T>A c.698T>A (p.Val233Glu) c.626T>A (p.Val209Glu) | |
7 | g.139961980T>C | CA369584214 | TBXAS1 | c.881T>C (p.Val294Ala) c.*670T>C (n.*670T>C) c.1019T>C (p.Val340Ala) c.884T>C (p.Val295Ala) c.1022T>C (p.Val341Ala) c.680T>C (p.Val227Ala) n.852T>C n.364T>C n.246T>C c.824T>C (p.Val275Ala) c.-4294966148T>C c.698T>C (p.Val233Ala) c.626T>C (p.Val209Ala) | |
7 | g.139961980T>G | CA369584218 | TBXAS1 | c.881T>G (p.Val294Gly) c.*670T>G (n.*670T>G) c.1019T>G (p.Val340Gly) c.884T>G (p.Val295Gly) c.1022T>G (p.Val341Gly) c.680T>G (p.Val227Gly) n.852T>G n.364T>G n.246T>G c.824T>G (p.Val275Gly) c.-4294966148T>G c.698T>G (p.Val233Gly) c.626T>G (p.Val209Gly) | |
7 | g.139961981G>A | CA458115370 | TBXAS1 | c.882G>A (p.Val294=) c.*671G>A (n.*671G>A) c.1020G>A (p.Val340=) c.885G>A (p.Val295=) c.1023G>A (p.Val341=) c.681G>A (p.Val227=) n.853G>A n.365G>A n.247G>A c.825G>A (p.Val275=) c.-4294966147G>A c.699G>A (p.Val233=) c.627G>A (p.Val209=) | |
7 | g.139961981G>C | CA458115372 | TBXAS1 | c.882G>C (p.Val294=) c.*671G>C (n.*671G>C) c.1020G>C (p.Val340=) c.885G>C (p.Val295=) c.1023G>C (p.Val341=) c.681G>C (p.Val227=) n.853G>C n.365G>C n.247G>C c.825G>C (p.Val275=) c.-4294966147G>C c.699G>C (p.Val233=) c.627G>C (p.Val209=) | |
7 | g.139961981G>T | CA458115371 | TBXAS1 | c.882G>T (p.Val294=) c.*671G>T (n.*671G>T) c.1020G>T (p.Val340=) c.885G>T (p.Val295=) c.1023G>T (p.Val341=) c.681G>T (p.Val227=) n.853G>T n.365G>T n.247G>T c.825G>T (p.Val275=) c.-4294966147G>T c.699G>T (p.Val233=) c.627G>T (p.Val209=) | |
7 | g.139961982C>A | CA369584222 | TBXAS1 | c.883C>A (p.Gln295Lys) c.*672C>A (n.*672C>A) c.1021C>A (p.Gln341Lys) c.886C>A (p.Gln296Lys) c.1024C>A (p.Gln342Lys) c.682C>A (p.Gln228Lys) n.854C>A n.366C>A n.248C>A c.826C>A (p.Gln276Lys) c.-4294966146C>A c.700C>A (p.Gln234Lys) c.628C>A (p.Gln210Lys) | |
7 | g.139961982C>G | CA369584226 | TBXAS1 | c.883C>G (p.Gln295Glu) c.*672C>G (n.*672C>G) c.1021C>G (p.Gln341Glu) c.886C>G (p.Gln296Glu) c.1024C>G (p.Gln342Glu) c.682C>G (p.Gln228Glu) n.854C>G n.366C>G n.248C>G c.826C>G (p.Gln276Glu) c.-4294966146C>G c.700C>G (p.Gln234Glu) c.628C>G (p.Gln210Glu) | |
7 | g.139961982C>T | CA369584230 | TBXAS1 | c.883C>T (p.Gln295Ter) c.*672C>T (n.*672C>T) c.1021C>T (p.Gln341Ter) c.886C>T (p.Gln296Ter) c.1024C>T (p.Gln342Ter) c.682C>T (p.Gln228Ter) n.854C>T n.366C>T n.248C>T c.826C>T (p.Gln276Ter) c.-4294966146C>T c.700C>T (p.Gln234Ter) c.628C>T (p.Gln210Ter) | |
7 | g.139961983A>C | CA369584241 | TBXAS1 | c.884A>C (p.Gln295Pro) c.*673A>C (n.*673A>C) c.1022A>C (p.Gln341Pro) c.887A>C (p.Gln296Pro) c.1025A>C (p.Gln342Pro) c.683A>C (p.Gln228Pro) n.855A>C n.367A>C n.249A>C c.827A>C (p.Gln276Pro) c.-4294966145A>C c.701A>C (p.Gln234Pro) c.629A>C (p.Gln210Pro) | |
7 | g.139961983A>G | CA369584244 | TBXAS1 | c.884A>G (p.Gln295Arg) c.*673A>G (n.*673A>G) c.1022A>G (p.Gln341Arg) c.887A>G (p.Gln296Arg) c.1025A>G (p.Gln342Arg) c.683A>G (p.Gln228Arg) n.855A>G n.367A>G n.249A>G c.827A>G (p.Gln276Arg) c.-4294966145A>G c.701A>G (p.Gln234Arg) c.629A>G (p.Gln210Arg) | |
7 | g.139961983A>T | CA369584235 | TBXAS1 | c.884A>T (p.Gln295Leu) c.*673A>T (n.*673A>T) c.1022A>T (p.Gln341Leu) c.887A>T (p.Gln296Leu) c.1025A>T (p.Gln342Leu) c.683A>T (p.Gln228Leu) n.855A>T n.367A>T n.249A>T c.827A>T (p.Gln276Leu) c.-4294966145A>T c.701A>T (p.Gln234Leu) c.629A>T (p.Gln210Leu) | |
7 | g.139961984A>C | CA369584252 | TBXAS1 | c.885A>C (p.Gln295His) c.*674A>C (n.*674A>C) c.1023A>C (p.Gln341His) c.888A>C (p.Gln296His) c.1026A>C (p.Gln342His) c.684A>C (p.Gln228His) n.856A>C n.368A>C n.250A>C c.828A>C (p.Gln276His) c.-4294966144A>C c.702A>C (p.Gln234His) c.630A>C (p.Gln210His) | |
7 | g.139961984A>G | CA458115376 | TBXAS1 | c.885A>G (p.Gln295=) c.*674A>G (n.*674A>G) c.1023A>G (p.Gln341=) c.888A>G (p.Gln296=) c.1026A>G (p.Gln342=) c.684A>G (p.Gln228=) n.856A>G n.368A>G n.250A>G c.828A>G (p.Gln276=) c.-4294966144A>G c.702A>G (p.Gln234=) c.630A>G (p.Gln210=) | |
7 | g.139961984A>T | CA369584249 | TBXAS1 | c.885A>T (p.Gln295His) c.*674A>T (n.*674A>T) c.1023A>T (p.Gln341His) c.888A>T (p.Gln296His) c.1026A>T (p.Gln342His) c.684A>T (p.Gln228His) n.856A>T n.368A>T n.250A>T c.828A>T (p.Gln276His) c.-4294966144A>T c.702A>T (p.Gln234His) c.630A>T (p.Gln210His) | |
7 | g.139961985G>A | CA4511842 | TBXAS1 | c.886G>A (p.Asp296Asn) c.*675G>A (n.*675G>A) c.1024G>A (p.Asp342Asn) c.889G>A (p.Asp297Asn) c.1027G>A (p.Asp343Asn) c.685G>A (p.Asp229Asn) n.857G>A n.369G>A n.251G>A c.829G>A (p.Asp277Asn) c.-4294966143G>A c.703G>A (p.Asp235Asn) c.631G>A (p.Asp211Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961985G>C | CA369584258 | TBXAS1 | c.886G>C (p.Asp296His) c.*675G>C (n.*675G>C) c.1024G>C (p.Asp342His) c.889G>C (p.Asp297His) c.1027G>C (p.Asp343His) c.685G>C (p.Asp229His) n.857G>C n.369G>C n.251G>C c.829G>C (p.Asp277His) c.-4294966143G>C c.703G>C (p.Asp235His) c.631G>C (p.Asp211His) | |
7 | g.139961985G= | CA1747341037 | TBXAS1 | c.886G= (p.Asp296=) c.*675G= (n.*675G=) c.1024G= (p.Asp342=) c.889G= (p.Asp297=) c.1027G= (p.Asp343=) c.685G= (p.Asp229=) n.857G= n.369G= n.251G= c.829G= (p.Asp277=) c.-4294966143G= c.703G= (p.Asp235=) c.631G= (p.Asp211=) | |
7 | g.139961985G>T | CA369584261 | TBXAS1 | c.886G>T (p.Asp296Tyr) c.*675G>T (n.*675G>T) c.1024G>T (p.Asp342Tyr) c.889G>T (p.Asp297Tyr) c.1027G>T (p.Asp343Tyr) c.685G>T (p.Asp229Tyr) n.857G>T n.369G>T n.251G>T c.829G>T (p.Asp277Tyr) c.-4294966143G>T c.703G>T (p.Asp235Tyr) c.631G>T (p.Asp211Tyr) | |
7 | g.139961986A= | CA1747341038 | TBXAS1 | c.887A= (p.Asp296=) c.*676A= (n.*676A=) c.1025A= (p.Asp342=) c.890A= (p.Asp297=) c.1028A= (p.Asp343=) c.686A= (p.Asp229=) n.858A= n.370A= n.252A= c.830A= (p.Asp277=) c.-4294966142A= c.704A= (p.Asp235=) c.632A= (p.Asp211=) | |
7 | g.139961986A>C | CA369584265 | TBXAS1 | c.887A>C (p.Asp296Ala) c.*676A>C (n.*676A>C) c.1025A>C (p.Asp342Ala) c.890A>C (p.Asp297Ala) c.1028A>C (p.Asp343Ala) c.686A>C (p.Asp229Ala) n.858A>C n.370A>C n.252A>C c.830A>C (p.Asp277Ala) c.-4294966142A>C c.704A>C (p.Asp235Ala) c.632A>C (p.Asp211Ala) | |
7 | g.139961986A>G | CA369584267 | TBXAS1 | c.887A>G (p.Asp296Gly) c.*676A>G (n.*676A>G) c.1025A>G (p.Asp342Gly) c.890A>G (p.Asp297Gly) c.1028A>G (p.Asp343Gly) c.686A>G (p.Asp229Gly) n.858A>G n.370A>G n.252A>G c.830A>G (p.Asp277Gly) c.-4294966142A>G c.704A>G (p.Asp235Gly) c.632A>G (p.Asp211Gly) | dbSNP |
7 | g.139961986A>T | CA369584271 | TBXAS1 | c.887A>T (p.Asp296Val) c.*676A>T (n.*676A>T) c.1025A>T (p.Asp342Val) c.890A>T (p.Asp297Val) c.1028A>T (p.Asp343Val) c.686A>T (p.Asp229Val) n.858A>T n.370A>T n.252A>T c.830A>T (p.Asp277Val) c.-4294966142A>T c.704A>T (p.Asp235Val) c.632A>T (p.Asp211Val) | |
7 | g.139961987C>A | CA369584273 | TBXAS1 | c.888C>A (p.Asp296Glu) c.*677C>A (n.*677C>A) c.1026C>A (p.Asp342Glu) c.891C>A (p.Asp297Glu) c.1029C>A (p.Asp343Glu) c.687C>A (p.Asp229Glu) n.859C>A n.371C>A n.253C>A c.831C>A (p.Asp277Glu) c.-4294966141C>A c.705C>A (p.Asp235Glu) c.633C>A (p.Asp211Glu) | |
7 | g.139961987C>G | CA369584276 | TBXAS1 | c.888C>G (p.Asp296Glu) c.*677C>G (n.*677C>G) c.1026C>G (p.Asp342Glu) c.891C>G (p.Asp297Glu) c.1029C>G (p.Asp343Glu) c.687C>G (p.Asp229Glu) n.859C>G n.371C>G n.253C>G c.831C>G (p.Asp277Glu) c.-4294966141C>G c.705C>G (p.Asp235Glu) c.633C>G (p.Asp211Glu) | |
7 | g.139961987C>T | CA458115377 | TBXAS1 | c.888C>T (p.Asp296=) c.*677C>T (n.*677C>T) c.1026C>T (p.Asp342=) c.891C>T (p.Asp297=) c.1029C>T (p.Asp343=) c.687C>T (p.Asp229=) n.859C>T n.371C>T n.253C>T c.831C>T (p.Asp277=) c.-4294966141C>T c.705C>T (p.Asp235=) c.633C>T (p.Asp211=) | |
7 | g.139961987_139961988insG | CA2579039958 | TBXAS1 | c.888_889insG (p.Phe297ValfsTer2) c.*677_*678insG (n.*677_*678insG) c.1026_1027insG (p.Phe343ValfsTer2) c.891_892insG (p.Phe298ValfsTer2) c.1029_1030insG (p.Phe344ValfsTer2) c.687_688insG (p.Phe230ValfsTer2) n.859_860insG n.371_372insG n.253_254insG c.831_832insG (p.Phe278ValfsTer2) c.-4294966141_-4294966140insG c.705_706insG (p.Phe236ValfsTer2) c.633_634insG (p.Phe212ValfsTer2) | |
7 | g.139961988T>A | CA369584280 | TBXAS1 | c.889T>A (p.Phe297Ile) c.*678T>A (n.*678T>A) c.1027T>A (p.Phe343Ile) c.892T>A (p.Phe298Ile) c.1030T>A (p.Phe344Ile) c.688T>A (p.Phe230Ile) n.860T>A n.372T>A n.254T>A c.832T>A (p.Phe278Ile) c.-4294966140T>A c.706T>A (p.Phe236Ile) c.634T>A (p.Phe212Ile) | |
7 | g.139961988T>C | CA369584283 | TBXAS1 | c.889T>C (p.Phe297Leu) c.*678T>C (n.*678T>C) c.1027T>C (p.Phe343Leu) c.892T>C (p.Phe298Leu) c.1030T>C (p.Phe344Leu) c.688T>C (p.Phe230Leu) n.860T>C n.372T>C n.254T>C c.832T>C (p.Phe278Leu) c.-4294966140T>C c.706T>C (p.Phe236Leu) c.634T>C (p.Phe212Leu) | |
7 | g.139961988T>G | CA369584285 | TBXAS1 | c.889T>G (p.Phe297Val) c.*678T>G (n.*678T>G) c.1027T>G (p.Phe343Val) c.892T>G (p.Phe298Val) c.1030T>G (p.Phe344Val) c.688T>G (p.Phe230Val) n.860T>G n.372T>G n.254T>G c.832T>G (p.Phe278Val) c.-4294966140T>G c.706T>G (p.Phe236Val) c.634T>G (p.Phe212Val) | |
7 | g.139961989T>A | CA369584288 | TBXAS1 | c.890T>A (p.Phe297Tyr) c.*679T>A (n.*679T>A) c.1028T>A (p.Phe343Tyr) c.893T>A (p.Phe298Tyr) c.1031T>A (p.Phe344Tyr) c.689T>A (p.Phe230Tyr) n.861T>A n.373T>A n.255T>A c.833T>A (p.Phe278Tyr) c.-4294966139T>A c.707T>A (p.Phe236Tyr) c.635T>A (p.Phe212Tyr) | |
7 | g.139961989T>C | CA369584293 | TBXAS1 | c.890T>C (p.Phe297Ser) c.*679T>C (n.*679T>C) c.1028T>C (p.Phe343Ser) c.893T>C (p.Phe298Ser) c.1031T>C (p.Phe344Ser) c.689T>C (p.Phe230Ser) n.861T>C n.373T>C n.255T>C c.833T>C (p.Phe278Ser) c.-4294966139T>C c.707T>C (p.Phe236Ser) c.635T>C (p.Phe212Ser) | gnomAD v4 |
7 | g.139961989T>G | CA369584296 | TBXAS1 | c.890T>G (p.Phe297Cys) c.*679T>G (n.*679T>G) c.1028T>G (p.Phe343Cys) c.893T>G (p.Phe298Cys) c.1031T>G (p.Phe344Cys) c.689T>G (p.Phe230Cys) n.861T>G n.373T>G n.255T>G c.833T>G (p.Phe278Cys) c.-4294966139T>G c.707T>G (p.Phe236Cys) c.635T>G (p.Phe212Cys) | |
7 | g.139961990T>A | CA369584300 | TBXAS1 | c.891T>A (p.Phe297Leu) c.*680T>A (n.*680T>A) c.1029T>A (p.Phe343Leu) c.894T>A (p.Phe298Leu) c.1032T>A (p.Phe344Leu) c.690T>A (p.Phe230Leu) n.862T>A n.374T>A n.256T>A c.834T>A (p.Phe278Leu) c.-4294966138T>A c.708T>A (p.Phe236Leu) c.636T>A (p.Phe212Leu) | |
7 | g.139961990T>C | CA458115379 | TBXAS1 | c.891T>C (p.Phe297=) c.*680T>C (n.*680T>C) c.1029T>C (p.Phe343=) c.894T>C (p.Phe298=) c.1032T>C (p.Phe344=) c.690T>C (p.Phe230=) n.862T>C n.374T>C n.256T>C c.834T>C (p.Phe278=) c.-4294966138T>C c.708T>C (p.Phe236=) c.636T>C (p.Phe212=) | |
7 | g.139961990T>G | CA369584303 | TBXAS1 | c.891T>G (p.Phe297Leu) c.*680T>G (n.*680T>G) c.1029T>G (p.Phe343Leu) c.894T>G (p.Phe298Leu) c.1032T>G (p.Phe344Leu) c.690T>G (p.Phe230Leu) n.862T>G n.374T>G n.256T>G c.834T>G (p.Phe278Leu) c.-4294966138T>G c.708T>G (p.Phe236Leu) c.636T>G (p.Phe212Leu) | |
7 | g.139961990_139961996delinsTGACATC | CA1747341039 | TBXAS1 | c.891_897delinsTGACATC (p.Phe297=) c.*680_*686delinsTGACATC (n.*680_*686delinsTGACATC) c.1029_1035delinsTGACATC (p.Phe343=) c.894_900delinsTGACATC (p.Phe298=) c.1032_1038delinsTGACATC (p.Phe344=) c.690_696delinsTGACATC (p.Phe230=) n.862_868delinsTGACATC n.374_380delinsTGACATC n.256_262delinsTGACATC c.834_840delinsTGACATC (p.Phe278=) c.-4294966138_-4294966132delinsTGACATC c.708_714delinsTGACATC (p.Phe236=) c.636_642delinsTGACATC (p.Phe212=) | |
7 | g.139961991G>A | CA369584309 | TBXAS1 | c.892G>A (p.Asp298Asn) c.*681G>A (n.*681G>A) c.1030G>A (p.Asp344Asn) c.895G>A (p.Asp299Asn) c.1033G>A (p.Asp345Asn) c.691G>A (p.Asp231Asn) n.863G>A n.375G>A n.257G>A c.835G>A (p.Asp279Asn) c.-4294966137G>A c.709G>A (p.Asp237Asn) c.637G>A (p.Asp213Asn) | |
7 | g.139961991G>C | CA369584313 | TBXAS1 | c.892G>C (p.Asp298His) c.*681G>C (n.*681G>C) c.1030G>C (p.Asp344His) c.895G>C (p.Asp299His) c.1033G>C (p.Asp345His) c.691G>C (p.Asp231His) n.863G>C n.375G>C n.257G>C c.835G>C (p.Asp279His) c.-4294966137G>C c.709G>C (p.Asp237His) c.637G>C (p.Asp213His) | |
7 | g.139961991G>T | CA369584316 | TBXAS1 | c.892G>T (p.Asp298Tyr) c.*681G>T (n.*681G>T) c.1030G>T (p.Asp344Tyr) c.895G>T (p.Asp299Tyr) c.1033G>T (p.Asp345Tyr) c.691G>T (p.Asp231Tyr) n.863G>T n.375G>T n.257G>T c.835G>T (p.Asp279Tyr) c.-4294966137G>T c.709G>T (p.Asp237Tyr) c.637G>T (p.Asp213Tyr) | |
7 | g.139961992_139961997del | CA16042663 | TBXAS1 | c.893_898del (p.Asp298_Ile299del) c.*682_*687del (n.*682_*687del) c.1031_1036del (p.Asp344_Ile345del) c.896_901del (p.Asp299_Ile300del) c.1034_1039del (p.Asp345_Ile346del) c.692_697del (p.Asp231_Ile232del) n.864_869del n.376_381del n.258_263del c.836_841del (p.Asp279_Ile280del) c.-4294966136_-4294966131del c.710_715del (p.Asp237_Ile238del) c.638_643del (p.Asp213_Ile214del) | ClinVar dbSNP |
7 | g.139961992A>C | CA369584321 | TBXAS1 | c.893A>C (p.Asp298Ala) c.*682A>C (n.*682A>C) c.1031A>C (p.Asp344Ala) c.896A>C (p.Asp299Ala) c.1034A>C (p.Asp345Ala) c.692A>C (p.Asp231Ala) n.864A>C n.376A>C n.258A>C c.836A>C (p.Asp279Ala) c.-4294966136A>C c.710A>C (p.Asp237Ala) c.638A>C (p.Asp213Ala) | |
7 | g.139961992A>G | CA369584324 | TBXAS1 | c.893A>G (p.Asp298Gly) c.*682A>G (n.*682A>G) c.1031A>G (p.Asp344Gly) c.896A>G (p.Asp299Gly) c.1034A>G (p.Asp345Gly) c.692A>G (p.Asp231Gly) n.864A>G n.376A>G n.258A>G c.836A>G (p.Asp279Gly) c.-4294966136A>G c.710A>G (p.Asp237Gly) c.638A>G (p.Asp213Gly) | |
7 | g.139961992A>T | CA369584327 | TBXAS1 | c.893A>T (p.Asp298Val) c.*682A>T (n.*682A>T) c.1031A>T (p.Asp344Val) c.896A>T (p.Asp299Val) c.1034A>T (p.Asp345Val) c.692A>T (p.Asp231Val) n.864A>T n.376A>T n.258A>T c.836A>T (p.Asp279Val) c.-4294966136A>T c.710A>T (p.Asp237Val) c.638A>T (p.Asp213Val) | |
7 | g.139961993C>A | CA369584333 | TBXAS1 | c.894C>A (p.Asp298Glu) c.*683C>A (n.*683C>A) c.1032C>A (p.Asp344Glu) c.897C>A (p.Asp299Glu) c.1035C>A (p.Asp345Glu) c.693C>A (p.Asp231Glu) n.865C>A n.377C>A n.259C>A c.837C>A (p.Asp279Glu) c.-4294966135C>A c.711C>A (p.Asp237Glu) c.639C>A (p.Asp213Glu) | |
7 | g.139961993C= | CA1747341040 | TBXAS1 | c.894C= (p.Asp298=) c.*683C= (n.*683C=) c.1032C= (p.Asp344=) c.897C= (p.Asp299=) c.1035C= (p.Asp345=) c.693C= (p.Asp231=) n.865C= n.377C= n.259C= c.837C= (p.Asp279=) c.-4294966135C= c.711C= (p.Asp237=) c.639C= (p.Asp213=) | |
7 | g.139961993C>G | CA369584336 | TBXAS1 | c.894C>G (p.Asp298Glu) c.*683C>G (n.*683C>G) c.1032C>G (p.Asp344Glu) c.897C>G (p.Asp299Glu) c.1035C>G (p.Asp345Glu) c.693C>G (p.Asp231Glu) n.865C>G n.377C>G n.259C>G c.837C>G (p.Asp279Glu) c.-4294966135C>G c.711C>G (p.Asp237Glu) c.639C>G (p.Asp213Glu) | |
7 | g.139961993C>T | CA4511843 | TBXAS1 | c.894C>T (p.Asp298=) c.*683C>T (n.*683C>T) c.1032C>T (p.Asp344=) c.897C>T (p.Asp299=) c.1035C>T (p.Asp345=) c.693C>T (p.Asp231=) n.865C>T n.377C>T n.259C>T c.837C>T (p.Asp279=) c.-4294966135C>T c.711C>T (p.Asp237=) c.639C>T (p.Asp213=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139961994A= | CA1747341041 | TBXAS1 | c.895A= (p.Ile299=) c.*684A= (n.*684A=) c.1033A= (p.Ile345=) c.898A= (p.Ile300=) c.1036A= (p.Ile346=) c.694A= (p.Ile232=) n.866A= n.378A= n.260A= c.838A= (p.Ile280=) c.-4294966134A= c.712A= (p.Ile238=) c.640A= (p.Ile214=) | |
7 | g.139961994A>C | CA369584344 | TBXAS1 | c.895A>C (p.Ile299Leu) c.*684A>C (n.*684A>C) c.1033A>C (p.Ile345Leu) c.898A>C (p.Ile300Leu) c.1036A>C (p.Ile346Leu) c.694A>C (p.Ile232Leu) n.866A>C n.378A>C n.260A>C c.838A>C (p.Ile280Leu) c.-4294966134A>C c.712A>C (p.Ile238Leu) c.640A>C (p.Ile214Leu) | |
7 | g.139961994A>G | CA369584346 | TBXAS1 | c.895A>G (p.Ile299Val) c.*684A>G (n.*684A>G) c.1033A>G (p.Ile345Val) c.898A>G (p.Ile300Val) c.1036A>G (p.Ile346Val) c.694A>G (p.Ile232Val) n.866A>G n.378A>G n.260A>G c.838A>G (p.Ile280Val) c.-4294966134A>G c.712A>G (p.Ile238Val) c.640A>G (p.Ile214Val) | dbSNP gnomAD v4 |
7 | g.139961994A>T | CA369584351 | TBXAS1 | c.895A>T (p.Ile299Phe) c.*684A>T (n.*684A>T) c.1033A>T (p.Ile345Phe) c.898A>T (p.Ile300Phe) c.1036A>T (p.Ile346Phe) c.694A>T (p.Ile232Phe) n.866A>T n.378A>T n.260A>T c.838A>T (p.Ile280Phe) c.-4294966134A>T c.712A>T (p.Ile238Phe) c.640A>T (p.Ile214Phe) | |
7 | g.139961995T>A | CA369584363 | TBXAS1 | c.896T>A (p.Ile299Asn) c.*685T>A (n.*685T>A) c.1034T>A (p.Ile345Asn) c.899T>A (p.Ile300Asn) c.1037T>A (p.Ile346Asn) c.695T>A (p.Ile232Asn) n.867T>A n.379T>A n.261T>A c.839T>A (p.Ile280Asn) c.-4294966133T>A c.713T>A (p.Ile238Asn) c.641T>A (p.Ile214Asn) | |
7 | g.139961995T>C | CA369584356 | TBXAS1 | c.896T>C (p.Ile299Thr) c.*685T>C (n.*685T>C) c.1034T>C (p.Ile345Thr) c.899T>C (p.Ile300Thr) c.1037T>C (p.Ile346Thr) c.695T>C (p.Ile232Thr) n.867T>C n.379T>C n.261T>C c.839T>C (p.Ile280Thr) c.-4294966133T>C c.713T>C (p.Ile238Thr) c.641T>C (p.Ile214Thr) | |
7 | g.139961995T>G | CA369584360 | TBXAS1 | c.896T>G (p.Ile299Ser) c.*685T>G (n.*685T>G) c.1034T>G (p.Ile345Ser) c.899T>G (p.Ile300Ser) c.1037T>G (p.Ile346Ser) c.695T>G (p.Ile232Ser) n.867T>G n.379T>G n.261T>G c.839T>G (p.Ile280Ser) c.-4294966133T>G c.713T>G (p.Ile238Ser) c.641T>G (p.Ile214Ser) | |
7 | g.139961996C>A | CA458115383 | TBXAS1 | c.897C>A (p.Ile299=) c.*686C>A (n.*686C>A) c.1035C>A (p.Ile345=) c.900C>A (p.Ile300=) c.1038C>A (p.Ile346=) c.696C>A (p.Ile232=) n.868C>A n.380C>A n.262C>A c.840C>A (p.Ile280=) c.-4294966132C>A c.714C>A (p.Ile238=) c.642C>A (p.Ile214=) | |
7 | g.139961996C= | CA1747341042 | TBXAS1 | c.897C= (p.Ile299=) c.*686C= (n.*686C=) c.1035C= (p.Ile345=) c.900C= (p.Ile300=) c.1038C= (p.Ile346=) c.696C= (p.Ile232=) n.868C= n.380C= n.262C= c.840C= (p.Ile280=) c.-4294966132C= c.714C= (p.Ile238=) c.642C= (p.Ile214=) | |
7 | g.139961996C>G | CA369584366 | TBXAS1 | c.897C>G (p.Ile299Met) c.*686C>G (n.*686C>G) c.1035C>G (p.Ile345Met) c.900C>G (p.Ile300Met) c.1038C>G (p.Ile346Met) c.696C>G (p.Ile232Met) n.868C>G n.380C>G n.262C>G c.840C>G (p.Ile280Met) c.-4294966132C>G c.714C>G (p.Ile238Met) c.642C>G (p.Ile214Met) | |
7 | g.139961996C>T | CA458115382 | TBXAS1 | c.897C>T (p.Ile299=) c.*686C>T (n.*686C>T) c.1035C>T (p.Ile345=) c.900C>T (p.Ile300=) c.1038C>T (p.Ile346=) c.696C>T (p.Ile232=) n.868C>T n.380C>T n.262C>T c.840C>T (p.Ile280=) c.-4294966132C>T c.714C>T (p.Ile238=) c.642C>T (p.Ile214=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.139961997G>A | CA4511844 | TBXAS1 | c.898G>A (p.Val300Ile) c.*687G>A (n.*687G>A) c.1036G>A (p.Val346Ile) c.901G>A (p.Val301Ile) c.1039G>A (p.Val347Ile) c.697G>A (p.Val233Ile) n.869G>A n.381G>A n.263G>A c.841G>A (p.Val281Ile) c.-4294966131G>A c.715G>A (p.Val239Ile) c.643G>A (p.Val215Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961997G>C | CA369584374 | TBXAS1 | c.898G>C (p.Val300Leu) c.*687G>C (n.*687G>C) c.1036G>C (p.Val346Leu) c.901G>C (p.Val301Leu) c.1039G>C (p.Val347Leu) c.697G>C (p.Val233Leu) n.869G>C n.381G>C n.263G>C c.841G>C (p.Val281Leu) c.-4294966131G>C c.715G>C (p.Val239Leu) c.643G>C (p.Val215Leu) | |
7 | g.139961997G= | CA1747341043 | TBXAS1 | c.898G= (p.Val300=) c.*687G= (n.*687G=) c.1036G= (p.Val346=) c.901G= (p.Val301=) c.1039G= (p.Val347=) c.697G= (p.Val233=) n.869G= n.381G= n.263G= c.841G= (p.Val281=) c.-4294966131G= c.715G= (p.Val239=) c.643G= (p.Val215=) | |
7 | g.139961997G>T | CA369584377 | TBXAS1 | c.898G>T (p.Val300Phe) c.*687G>T (n.*687G>T) c.1036G>T (p.Val346Phe) c.901G>T (p.Val301Phe) c.1039G>T (p.Val347Phe) c.697G>T (p.Val233Phe) n.869G>T n.381G>T n.263G>T c.841G>T (p.Val281Phe) c.-4294966131G>T c.715G>T (p.Val239Phe) c.643G>T (p.Val215Phe) | |
7 | g.139961998T>A | CA369584381 | TBXAS1 | c.899T>A (p.Val300Asp) c.*688T>A (n.*688T>A) c.1037T>A (p.Val346Asp) c.902T>A (p.Val301Asp) c.1040T>A (p.Val347Asp) c.698T>A (p.Val233Asp) n.870T>A n.382T>A n.264T>A c.842T>A (p.Val281Asp) c.-4294966130T>A c.716T>A (p.Val239Asp) c.644T>A (p.Val215Asp) | gnomAD v4 |
7 | g.139961998T>C | CA369584384 | TBXAS1 | c.899T>C (p.Val300Ala) c.*688T>C (n.*688T>C) c.1037T>C (p.Val346Ala) c.902T>C (p.Val301Ala) c.1040T>C (p.Val347Ala) c.698T>C (p.Val233Ala) n.870T>C n.382T>C n.264T>C c.842T>C (p.Val281Ala) c.-4294966130T>C c.716T>C (p.Val239Ala) c.644T>C (p.Val215Ala) | |
7 | g.139961998T>G | CA369584387 | TBXAS1 | c.899T>G (p.Val300Gly) c.*688T>G (n.*688T>G) c.1037T>G (p.Val346Gly) c.902T>G (p.Val301Gly) c.1040T>G (p.Val347Gly) c.698T>G (p.Val233Gly) n.870T>G n.382T>G n.264T>G c.842T>G (p.Val281Gly) c.-4294966130T>G c.716T>G (p.Val239Gly) c.644T>G (p.Val215Gly) | |
7 | g.139961999C>A | CA458115387 | TBXAS1 | c.900C>A (p.Val300=) c.*689C>A (n.*689C>A) c.1038C>A (p.Val346=) c.903C>A (p.Val301=) c.1041C>A (p.Val347=) c.699C>A (p.Val233=) n.871C>A n.383C>A n.265C>A c.843C>A (p.Val281=) c.-4294966129C>A c.717C>A (p.Val239=) c.645C>A (p.Val215=) | |
7 | g.139961999C= | CA1747341045 | TBXAS1 | c.900C= (p.Val300=) c.*689C= (n.*689C=) c.1038C= (p.Val346=) c.903C= (p.Val301=) c.1041C= (p.Val347=) c.699C= (p.Val233=) n.871C= n.383C= n.265C= c.843C= (p.Val281=) c.-4294966129C= c.717C= (p.Val239=) c.645C= (p.Val215=) | |
7 | g.139961999C>G | CA458115388 | TBXAS1 | c.900C>G (p.Val300=) c.*689C>G (n.*689C>G) c.1038C>G (p.Val346=) c.903C>G (p.Val301=) c.1041C>G (p.Val347=) c.699C>G (p.Val233=) n.871C>G n.383C>G n.265C>G c.843C>G (p.Val281=) c.-4294966129C>G c.717C>G (p.Val239=) c.645C>G (p.Val215=) | |
7 | g.139961999C>T | CA458115389 | TBXAS1 | c.900C>T (p.Val300=) c.*689C>T (n.*689C>T) c.1038C>T (p.Val346=) c.903C>T (p.Val301=) c.1041C>T (p.Val347=) c.699C>T (p.Val233=) n.871C>T n.383C>T n.265C>T c.843C>T (p.Val281=) c.-4294966129C>T c.717C>T (p.Val239=) c.645C>T (p.Val215=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961999_139962001delinsCAG | CA1747341044 | TBXAS1 | c.900_902delinsCAG (p.Val300=) c.*689_*691delinsCAG (n.*689_*691delinsCAG) c.1038_1040delinsCAG (p.Val346=) c.903_905delinsCAG (p.Val301=) c.1041_1043delinsCAG (p.Val347=) c.699_701delinsCAG (p.Val233=) n.871_873delinsCAG n.383_385delinsCAG n.265_267delinsCAG c.843_845delinsCAG (p.Val281=) c.-4294966129_-4294966127delinsCAG c.717_719delinsCAG (p.Val239=) c.645_647delinsCAG (p.Val215=) | |
7 | g.139962000A>C | CA458115390 | TBXAS1 | c.901A>C (p.Arg301=) c.*690A>C (n.*690A>C) c.1039A>C (p.Arg347=) c.904A>C (p.Arg302=) c.1042A>C (p.Arg348=) c.700A>C (p.Arg234=) n.872A>C n.384A>C n.266A>C c.844A>C (p.Arg282=) c.-4294966128A>C c.718A>C (p.Arg240=) c.646A>C (p.Arg216=) | gnomAD v4 |
7 | g.139962000A>G | CA369584391 | TBXAS1 | c.901A>G (p.Arg301Gly) c.*690A>G (n.*690A>G) c.1039A>G (p.Arg347Gly) c.904A>G (p.Arg302Gly) c.1042A>G (p.Arg348Gly) c.700A>G (p.Arg234Gly) n.872A>G n.384A>G n.266A>G c.844A>G (p.Arg282Gly) c.-4294966128A>G c.718A>G (p.Arg240Gly) c.646A>G (p.Arg216Gly) | |
7 | g.139962000A>T | CA369584401 | TBXAS1 | c.901A>T (p.Arg301Ter) c.*690A>T (n.*690A>T) c.1039A>T (p.Arg347Ter) c.904A>T (p.Arg302Ter) c.1042A>T (p.Arg348Ter) c.700A>T (p.Arg234Ter) n.872A>T n.384A>T n.266A>T c.844A>T (p.Arg282Ter) c.-4294966128A>T c.718A>T (p.Arg240Ter) c.646A>T (p.Arg216Ter) | |
7 | g.139962003_139962004del | CA834161086 | TBXAS1 | c.904_905del (p.Asp302ArgfsTer28) c.*693_*694del (n.*693_*694del) c.1042_1043del (p.Asp348ArgfsTer28) c.907_908del (p.Asp303ArgfsTer28) c.1045_1046del (p.Asp349ArgfsTer28) c.703_704del (p.Asp235ArgfsTer28) n.875_876del n.387_388del n.269_270del c.847_848del (p.Asp283ArgfsTer28) c.-4294966125_-4294966124del c.721_722del (p.Asp241ArgfsTer28) c.649_650del (p.Asp217ArgfsTer28) | dbSNP gnomAD v4 |
7 | g.139962001G>A | CA369584405 | TBXAS1 | c.902G>A (p.Arg301Lys) c.*691G>A (n.*691G>A) c.1040G>A (p.Arg347Lys) c.905G>A (p.Arg302Lys) c.1043G>A (p.Arg348Lys) c.701G>A (p.Arg234Lys) n.873G>A n.385G>A n.267G>A c.845G>A (p.Arg282Lys) c.-4294966127G>A c.719G>A (p.Arg240Lys) c.647G>A (p.Arg216Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962001G>C | CA369584409 | TBXAS1 | c.902G>C (p.Arg301Thr) c.*691G>C (n.*691G>C) c.1040G>C (p.Arg347Thr) c.905G>C (p.Arg302Thr) c.1043G>C (p.Arg348Thr) c.701G>C (p.Arg234Thr) n.873G>C n.385G>C n.267G>C c.845G>C (p.Arg282Thr) c.-4294966127G>C c.719G>C (p.Arg240Thr) c.647G>C (p.Arg216Thr) | |
7 | g.139962001G= | CA1747341046 | TBXAS1 | c.902G= (p.Arg301=) c.*691G= (n.*691G=) c.1040G= (p.Arg347=) c.905G= (p.Arg302=) c.1043G= (p.Arg348=) c.701G= (p.Arg234=) n.873G= n.385G= n.267G= c.845G= (p.Arg282=) c.-4294966127G= c.719G= (p.Arg240=) c.647G= (p.Arg216=) | |
7 | g.139962001G>T | CA369584412 | TBXAS1 | c.902G>T (p.Arg301Ile) c.*691G>T (n.*691G>T) c.1040G>T (p.Arg347Ile) c.905G>T (p.Arg302Ile) c.1043G>T (p.Arg348Ile) c.701G>T (p.Arg234Ile) n.873G>T n.385G>T n.267G>T c.845G>T (p.Arg282Ile) c.-4294966127G>T c.719G>T (p.Arg240Ile) c.647G>T (p.Arg216Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962002A>C | CA369584416 | TBXAS1 | c.903A>C (p.Arg301Ser) c.*692A>C (n.*692A>C) c.1041A>C (p.Arg347Ser) c.906A>C (p.Arg302Ser) c.1044A>C (p.Arg348Ser) c.702A>C (p.Arg234Ser) n.874A>C n.386A>C n.268A>C c.846A>C (p.Arg282Ser) c.-4294966126A>C c.720A>C (p.Arg240Ser) c.648A>C (p.Arg216Ser) | |
7 | g.139962002A>G | CA458115392 | TBXAS1 | c.903A>G (p.Arg301=) c.*692A>G (n.*692A>G) c.1041A>G (p.Arg347=) c.906A>G (p.Arg302=) c.1044A>G (p.Arg348=) c.702A>G (p.Arg234=) n.874A>G n.386A>G n.268A>G c.846A>G (p.Arg282=) c.-4294966126A>G c.720A>G (p.Arg240=) c.648A>G (p.Arg216=) | |
7 | g.139962002A>T | CA369584417 | TBXAS1 | c.903A>T (p.Arg301Ser) c.*692A>T (n.*692A>T) c.1041A>T (p.Arg347Ser) c.906A>T (p.Arg302Ser) c.1044A>T (p.Arg348Ser) c.702A>T (p.Arg234Ser) n.874A>T n.386A>T n.268A>T c.846A>T (p.Arg282Ser) c.-4294966126A>T c.720A>T (p.Arg240Ser) c.648A>T (p.Arg216Ser) | |
7 | g.139962003G>A | CA4511845 | TBXAS1 | c.904G>A (p.Asp302Asn) c.*693G>A (n.*693G>A) c.1042G>A (p.Asp348Asn) c.907G>A (p.Asp303Asn) c.1045G>A (p.Asp349Asn) c.703G>A (p.Asp235Asn) n.875G>A n.387G>A n.269G>A c.847G>A (p.Asp283Asn) c.-4294966125G>A c.721G>A (p.Asp241Asn) c.649G>A (p.Asp217Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962003G>C | CA369584423 | TBXAS1 | c.904G>C (p.Asp302His) c.*693G>C (n.*693G>C) c.1042G>C (p.Asp348His) c.907G>C (p.Asp303His) c.1045G>C (p.Asp349His) c.703G>C (p.Asp235His) n.875G>C n.387G>C n.269G>C c.847G>C (p.Asp283His) c.-4294966125G>C c.721G>C (p.Asp241His) c.649G>C (p.Asp217His) | |
7 | g.139962003G= | CA1747341047 | TBXAS1 | c.904G= (p.Asp302=) c.*693G= (n.*693G=) c.1042G= (p.Asp348=) c.907G= (p.Asp303=) c.1045G= (p.Asp349=) c.703G= (p.Asp235=) n.875G= n.387G= n.269G= c.847G= (p.Asp283=) c.-4294966125G= c.721G= (p.Asp241=) c.649G= (p.Asp217=) | |
7 | g.139962003G>T | CA369584425 | TBXAS1 | c.904G>T (p.Asp302Tyr) c.*693G>T (n.*693G>T) c.1042G>T (p.Asp348Tyr) c.907G>T (p.Asp303Tyr) c.1045G>T (p.Asp349Tyr) c.703G>T (p.Asp235Tyr) n.875G>T n.387G>T n.269G>T c.847G>T (p.Asp283Tyr) c.-4294966125G>T c.721G>T (p.Asp241Tyr) c.649G>T (p.Asp217Tyr) | |
7 | g.139962004A>C | CA369584433 | TBXAS1 | c.905A>C (p.Asp302Ala) c.*694A>C (n.*694A>C) c.1043A>C (p.Asp348Ala) c.908A>C (p.Asp303Ala) c.1046A>C (p.Asp349Ala) c.704A>C (p.Asp235Ala) n.876A>C n.388A>C n.270A>C c.848A>C (p.Asp283Ala) c.-4294966124A>C c.722A>C (p.Asp241Ala) c.650A>C (p.Asp217Ala) | |
7 | g.139962004A>G | CA369584438 | TBXAS1 | c.905A>G (p.Asp302Gly) c.*694A>G (n.*694A>G) c.1043A>G (p.Asp348Gly) c.908A>G (p.Asp303Gly) c.1046A>G (p.Asp349Gly) c.704A>G (p.Asp235Gly) n.876A>G n.388A>G n.270A>G c.848A>G (p.Asp283Gly) c.-4294966124A>G c.722A>G (p.Asp241Gly) c.650A>G (p.Asp217Gly) | |
7 | g.139962004A>T | CA369584441 | TBXAS1 | c.905A>T (p.Asp302Val) c.*694A>T (n.*694A>T) c.1043A>T (p.Asp348Val) c.908A>T (p.Asp303Val) c.1046A>T (p.Asp349Val) c.704A>T (p.Asp235Val) n.876A>T n.388A>T n.270A>T c.848A>T (p.Asp283Val) c.-4294966124A>T c.722A>T (p.Asp241Val) c.650A>T (p.Asp217Val) | gnomAD v4 |
7 | g.139962005C>A | CA369584445 | TBXAS1 | c.906C>A (p.Asp302Glu) c.*695C>A (n.*695C>A) c.1044C>A (p.Asp348Glu) c.909C>A (p.Asp303Glu) c.1047C>A (p.Asp349Glu) c.705C>A (p.Asp235Glu) n.877C>A n.389C>A n.271C>A c.849C>A (p.Asp283Glu) c.-4294966123C>A c.723C>A (p.Asp241Glu) c.651C>A (p.Asp217Glu) | dbSNP |
7 | g.139962005C= | CA1747341048 | TBXAS1 | c.906C= (p.Asp302=) c.*695C= (n.*695C=) c.1044C= (p.Asp348=) c.909C= (p.Asp303=) c.1047C= (p.Asp349=) c.705C= (p.Asp235=) n.877C= n.389C= n.271C= c.849C= (p.Asp283=) c.-4294966123C= c.723C= (p.Asp241=) c.651C= (p.Asp217=) | |
7 | g.139962005C>G | CA369584446 | TBXAS1 | c.906C>G (p.Asp302Glu) c.*695C>G (n.*695C>G) c.1044C>G (p.Asp348Glu) c.909C>G (p.Asp303Glu) c.1047C>G (p.Asp349Glu) c.705C>G (p.Asp235Glu) n.877C>G n.389C>G n.271C>G c.849C>G (p.Asp283Glu) c.-4294966123C>G c.723C>G (p.Asp241Glu) c.651C>G (p.Asp217Glu) | |
7 | g.139962005C>T | CA4511846 | TBXAS1 | c.906C>T (p.Asp302=) c.*695C>T (n.*695C>T) c.1044C>T (p.Asp348=) c.909C>T (p.Asp303=) c.1047C>T (p.Asp349=) c.705C>T (p.Asp235=) n.877C>T n.389C>T n.271C>T c.849C>T (p.Asp283=) c.-4294966123C>T c.723C>T (p.Asp241=) c.651C>T (p.Asp217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.139962006G>A | CA4511847 | TBXAS1 | c.907G>A (p.Val303Ile) c.*696G>A (n.*696G>A) c.1045G>A (p.Val349Ile) c.910G>A (p.Val304Ile) c.1048G>A (p.Val350Ile) c.706G>A (p.Val236Ile) n.878G>A n.390G>A n.272G>A c.850G>A (p.Val284Ile) c.-4294966122G>A c.724G>A (p.Val242Ile) c.652G>A (p.Val218Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962006G>C | CA369584453 | TBXAS1 | c.907G>C (p.Val303Leu) c.*696G>C (n.*696G>C) c.1045G>C (p.Val349Leu) c.910G>C (p.Val304Leu) c.1048G>C (p.Val350Leu) c.706G>C (p.Val236Leu) n.878G>C n.390G>C n.272G>C c.850G>C (p.Val284Leu) c.-4294966122G>C c.724G>C (p.Val242Leu) c.652G>C (p.Val218Leu) | |
7 | g.139962006G= | CA1747341049 | TBXAS1 | c.907G= (p.Val303=) c.*696G= (n.*696G=) c.1045G= (p.Val349=) c.910G= (p.Val304=) c.1048G= (p.Val350=) c.706G= (p.Val236=) n.878G= n.390G= n.272G= c.850G= (p.Val284=) c.-4294966122G= c.724G= (p.Val242=) c.652G= (p.Val218=) | |
7 | g.139962006G>T | CA369584455 | TBXAS1 | c.907G>T (p.Val303Phe) c.*696G>T (n.*696G>T) c.1045G>T (p.Val349Phe) c.910G>T (p.Val304Phe) c.1048G>T (p.Val350Phe) c.706G>T (p.Val236Phe) n.878G>T n.390G>T n.272G>T c.850G>T (p.Val284Phe) c.-4294966122G>T c.724G>T (p.Val242Phe) c.652G>T (p.Val218Phe) | |
7 | g.139962007T>A | CA369584461 | TBXAS1 | c.908T>A (p.Val303Asp) c.*697T>A (n.*697T>A) c.1046T>A (p.Val349Asp) c.911T>A (p.Val304Asp) c.1049T>A (p.Val350Asp) c.707T>A (p.Val236Asp) n.879T>A n.391T>A n.273T>A c.851T>A (p.Val284Asp) c.-4294966121T>A c.725T>A (p.Val242Asp) c.653T>A (p.Val218Asp) | |
7 | g.139962007T>C | CA369584464 | TBXAS1 | c.908T>C (p.Val303Ala) c.*697T>C (n.*697T>C) c.1046T>C (p.Val349Ala) c.911T>C (p.Val304Ala) c.1049T>C (p.Val350Ala) c.707T>C (p.Val236Ala) n.879T>C n.391T>C n.273T>C c.851T>C (p.Val284Ala) c.-4294966121T>C c.725T>C (p.Val242Ala) c.653T>C (p.Val218Ala) | |
7 | g.139962007T>G | CA369584467 | TBXAS1 | c.908T>G (p.Val303Gly) c.*697T>G (n.*697T>G) c.1046T>G (p.Val349Gly) c.911T>G (p.Val304Gly) c.1049T>G (p.Val350Gly) c.707T>G (p.Val236Gly) n.879T>G n.391T>G n.273T>G c.851T>G (p.Val284Gly) c.-4294966121T>G c.725T>G (p.Val242Gly) c.653T>G (p.Val218Gly) | |
7 | g.139962008T>A | CA458115398 | TBXAS1 | c.909T>A (p.Val303=) c.*698T>A (n.*698T>A) c.1047T>A (p.Val349=) c.912T>A (p.Val304=) c.1050T>A (p.Val350=) c.708T>A (p.Val236=) n.880T>A n.392T>A n.274T>A c.852T>A (p.Val284=) c.-4294966120T>A c.726T>A (p.Val242=) c.654T>A (p.Val218=) | |
7 | g.139962008T>C | CA458115399 | TBXAS1 | c.909T>C (p.Val303=) c.*698T>C (n.*698T>C) c.1047T>C (p.Val349=) c.912T>C (p.Val304=) c.1050T>C (p.Val350=) c.708T>C (p.Val236=) n.880T>C n.392T>C n.274T>C c.852T>C (p.Val284=) c.-4294966120T>C c.726T>C (p.Val242=) c.654T>C (p.Val218=) | dbSNP |
7 | g.139962008T>G | CA458115400 | TBXAS1 | c.909T>G (p.Val303=) c.*698T>G (n.*698T>G) c.1047T>G (p.Val349=) c.912T>G (p.Val304=) c.1050T>G (p.Val350=) c.708T>G (p.Val236=) n.880T>G n.392T>G n.274T>G c.852T>G (p.Val284=) c.-4294966120T>G c.726T>G (p.Val242=) c.654T>G (p.Val218=) | |
7 | g.139962008T= | CA1747341050 | TBXAS1 | c.909T= (p.Val303=) c.*698T= (n.*698T=) c.1047T= (p.Val349=) c.912T= (p.Val304=) c.1050T= (p.Val350=) c.708T= (p.Val236=) n.880T= n.392T= n.274T= c.852T= (p.Val284=) c.-4294966120T= c.726T= (p.Val242=) c.654T= (p.Val218=) | |
7 | g.139962009T>A | CA369584471 | TBXAS1 | c.910T>A (p.Phe304Ile) c.*699T>A (n.*699T>A) c.1048T>A (p.Phe350Ile) c.913T>A (p.Phe305Ile) c.1051T>A (p.Phe351Ile) c.709T>A (p.Phe237Ile) n.881T>A n.393T>A n.275T>A c.853T>A (p.Phe285Ile) c.-4294966119T>A c.727T>A (p.Phe243Ile) c.655T>A (p.Phe219Ile) | |
7 | g.139962009T>C | CA369584478 | TBXAS1 | c.910T>C (p.Phe304Leu) c.*699T>C (n.*699T>C) c.1048T>C (p.Phe350Leu) c.913T>C (p.Phe305Leu) c.1051T>C (p.Phe351Leu) c.709T>C (p.Phe237Leu) n.881T>C n.393T>C n.275T>C c.853T>C (p.Phe285Leu) c.-4294966119T>C c.727T>C (p.Phe243Leu) c.655T>C (p.Phe219Leu) | |
7 | g.139962009T>G | CA369584474 | TBXAS1 | c.910T>G (p.Phe304Val) c.*699T>G (n.*699T>G) c.1048T>G (p.Phe350Val) c.913T>G (p.Phe305Val) c.1051T>G (p.Phe351Val) c.709T>G (p.Phe237Val) n.881T>G n.393T>G n.275T>G c.853T>G (p.Phe285Val) c.-4294966119T>G c.727T>G (p.Phe243Val) c.655T>G (p.Phe219Val) | |
7 | g.139962010T>A | CA369584482 | TBXAS1 | c.911T>A (p.Phe304Tyr) c.*700T>A (n.*700T>A) c.1049T>A (p.Phe350Tyr) c.914T>A (p.Phe305Tyr) c.1052T>A (p.Phe351Tyr) c.710T>A (p.Phe237Tyr) n.882T>A n.394T>A n.276T>A c.854T>A (p.Phe285Tyr) c.-4294966118T>A c.728T>A (p.Phe243Tyr) c.656T>A (p.Phe219Tyr) | |
7 | g.139962010T>C | CA369584489 | TBXAS1 | c.911T>C (p.Phe304Ser) c.*700T>C (n.*700T>C) c.1049T>C (p.Phe350Ser) c.914T>C (p.Phe305Ser) c.1052T>C (p.Phe351Ser) c.710T>C (p.Phe237Ser) n.882T>C n.394T>C n.276T>C c.854T>C (p.Phe285Ser) c.-4294966118T>C c.728T>C (p.Phe243Ser) c.656T>C (p.Phe219Ser) | |
7 | g.139962010T>G | CA369584486 | TBXAS1 | c.911T>G (p.Phe304Cys) c.*700T>G (n.*700T>G) c.1049T>G (p.Phe350Cys) c.914T>G (p.Phe305Cys) c.1052T>G (p.Phe351Cys) c.710T>G (p.Phe237Cys) n.882T>G n.394T>G n.276T>G c.854T>G (p.Phe285Cys) c.-4294966118T>G c.728T>G (p.Phe243Cys) c.656T>G (p.Phe219Cys) | |
7 | g.139962011C>A | CA369584493 | TBXAS1 | c.912C>A (p.Phe304Leu) c.*701C>A (n.*701C>A) c.1050C>A (p.Phe350Leu) c.915C>A (p.Phe305Leu) c.1053C>A (p.Phe351Leu) c.711C>A (p.Phe237Leu) n.883C>A n.395C>A n.277C>A c.855C>A (p.Phe285Leu) c.-4294966117C>A c.729C>A (p.Phe243Leu) c.657C>A (p.Phe219Leu) | |
7 | g.139962011C= | CA1747341051 | TBXAS1 | c.912C= (p.Phe304=) c.*701C= (n.*701C=) c.1050C= (p.Phe350=) c.915C= (p.Phe305=) c.1053C= (p.Phe351=) c.711C= (p.Phe237=) n.883C= n.395C= n.277C= c.855C= (p.Phe285=) c.-4294966117C= c.729C= (p.Phe243=) c.657C= (p.Phe219=) | |
7 | g.139962011C>G | CA369584499 | TBXAS1 | c.912C>G (p.Phe304Leu) c.*701C>G (n.*701C>G) c.1050C>G (p.Phe350Leu) c.915C>G (p.Phe305Leu) c.1053C>G (p.Phe351Leu) c.711C>G (p.Phe237Leu) n.883C>G n.395C>G n.277C>G c.855C>G (p.Phe285Leu) c.-4294966117C>G c.729C>G (p.Phe243Leu) c.657C>G (p.Phe219Leu) | |
7 | g.139962011C>T | CA458115404 | TBXAS1 | c.912C>T (p.Phe304=) c.*701C>T (n.*701C>T) c.1050C>T (p.Phe350=) c.915C>T (p.Phe305=) c.1053C>T (p.Phe351=) c.711C>T (p.Phe237=) n.883C>T n.395C>T n.277C>T c.855C>T (p.Phe285=) c.-4294966117C>T c.729C>T (p.Phe243=) c.657C>T (p.Phe219=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962012T>A | CA369584503 | TBXAS1 | c.913T>A (p.Ser305Thr) c.*702T>A (n.*702T>A) c.1051T>A (p.Ser351Thr) c.916T>A (p.Ser306Thr) c.1054T>A (p.Ser352Thr) c.712T>A (p.Ser238Thr) n.884T>A n.396T>A n.278T>A c.856T>A (p.Ser286Thr) c.-4294966116T>A c.730T>A (p.Ser244Thr) c.658T>A (p.Ser220Thr) | |
7 | g.139962012T>C | CA369584507 | TBXAS1 | c.913T>C (p.Ser305Pro) c.*702T>C (n.*702T>C) c.1051T>C (p.Ser351Pro) c.916T>C (p.Ser306Pro) c.1054T>C (p.Ser352Pro) c.712T>C (p.Ser238Pro) n.884T>C n.396T>C n.278T>C c.856T>C (p.Ser286Pro) c.-4294966116T>C c.730T>C (p.Ser244Pro) c.658T>C (p.Ser220Pro) | |
7 | g.139962012T>G | CA369584511 | TBXAS1 | c.913T>G (p.Ser305Ala) c.*702T>G (n.*702T>G) c.1051T>G (p.Ser351Ala) c.916T>G (p.Ser306Ala) c.1054T>G (p.Ser352Ala) c.712T>G (p.Ser238Ala) n.884T>G n.396T>G n.278T>G c.856T>G (p.Ser286Ala) c.-4294966116T>G c.730T>G (p.Ser244Ala) c.658T>G (p.Ser220Ala) | |
7 | g.139962013C>A | CA369584517 | TBXAS1 | c.914C>A (p.Ser305Tyr) c.*703C>A (n.*703C>A) c.1052C>A (p.Ser351Tyr) c.917C>A (p.Ser306Tyr) c.1055C>A (p.Ser352Tyr) c.713C>A (p.Ser238Tyr) n.885C>A n.397C>A n.279C>A c.857C>A (p.Ser286Tyr) c.-4294966115C>A c.731C>A (p.Ser244Tyr) c.659C>A (p.Ser220Tyr) | |
7 | g.139962013C= | CA1747341052 | TBXAS1 | c.914C= (p.Ser305=) c.*703C= (n.*703C=) c.1052C= (p.Ser351=) c.917C= (p.Ser306=) c.1055C= (p.Ser352=) c.713C= (p.Ser238=) n.885C= n.397C= n.279C= c.857C= (p.Ser286=) c.-4294966115C= c.731C= (p.Ser244=) c.659C= (p.Ser220=) | |
7 | g.139962013C>G | CA369584518 | TBXAS1 | c.914C>G (p.Ser305Cys) c.*703C>G (n.*703C>G) c.1052C>G (p.Ser351Cys) c.917C>G (p.Ser306Cys) c.1055C>G (p.Ser352Cys) c.713C>G (p.Ser238Cys) n.885C>G n.397C>G n.279C>G c.857C>G (p.Ser286Cys) c.-4294966115C>G c.731C>G (p.Ser244Cys) c.659C>G (p.Ser220Cys) | |
7 | g.139962013C>T | CA369584523 | TBXAS1 | c.914C>T (p.Ser305Phe) c.*703C>T (n.*703C>T) c.1052C>T (p.Ser351Phe) c.917C>T (p.Ser306Phe) c.1055C>T (p.Ser352Phe) c.713C>T (p.Ser238Phe) n.885C>T n.397C>T n.279C>T c.857C>T (p.Ser286Phe) c.-4294966115C>T c.731C>T (p.Ser244Phe) c.659C>T (p.Ser220Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.139962014C>A | CA458115408 | TBXAS1 | c.915C>A (p.Ser305=) c.*704C>A (n.*704C>A) c.1053C>A (p.Ser351=) c.918C>A (p.Ser306=) c.1056C>A (p.Ser352=) c.714C>A (p.Ser238=) n.886C>A n.398C>A n.280C>A c.858C>A (p.Ser286=) c.-4294966114C>A c.732C>A (p.Ser244=) c.660C>A (p.Ser220=) | |
7 | g.139962014C>G | CA458115409 | TBXAS1 | c.915C>G (p.Ser305=) c.*704C>G (n.*704C>G) c.1053C>G (p.Ser351=) c.918C>G (p.Ser306=) c.1056C>G (p.Ser352=) c.714C>G (p.Ser238=) n.886C>G n.398C>G n.280C>G c.858C>G (p.Ser286=) c.-4294966114C>G c.732C>G (p.Ser244=) c.660C>G (p.Ser220=) | |
7 | g.139962014C>T | CA458115410 | TBXAS1 | c.915C>T (p.Ser305=) c.*704C>T (n.*704C>T) c.1053C>T (p.Ser351=) c.918C>T (p.Ser306=) c.1056C>T (p.Ser352=) c.714C>T (p.Ser238=) n.886C>T n.398C>T n.280C>T c.858C>T (p.Ser286=) c.-4294966114C>T c.732C>T (p.Ser244=) c.660C>T (p.Ser220=) | |
7 | g.139962015T>A | CA369584528 | TBXAS1 | c.916T>A (p.Ser306Thr) c.*705T>A (n.*705T>A) c.1054T>A (p.Ser352Thr) c.919T>A (p.Ser307Thr) c.1057T>A (p.Ser353Thr) c.715T>A (p.Ser239Thr) n.887T>A n.399T>A n.281T>A c.859T>A (p.Ser287Thr) c.-4294966113T>A c.733T>A (p.Ser245Thr) c.661T>A (p.Ser221Thr) | gnomAD v4 |
7 | g.139962015T>C | CA369584532 | TBXAS1 | c.916T>C (p.Ser306Pro) c.*705T>C (n.*705T>C) c.1054T>C (p.Ser352Pro) c.919T>C (p.Ser307Pro) c.1057T>C (p.Ser353Pro) c.715T>C (p.Ser239Pro) n.887T>C n.399T>C n.281T>C c.859T>C (p.Ser287Pro) c.-4294966113T>C c.733T>C (p.Ser245Pro) c.661T>C (p.Ser221Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962015T>G | CA369584534 | TBXAS1 | c.916T>G (p.Ser306Ala) c.*705T>G (n.*705T>G) c.1054T>G (p.Ser352Ala) c.919T>G (p.Ser307Ala) c.1057T>G (p.Ser353Ala) c.715T>G (p.Ser239Ala) n.887T>G n.399T>G n.281T>G c.859T>G (p.Ser287Ala) c.-4294966113T>G c.733T>G (p.Ser245Ala) c.661T>G (p.Ser221Ala) | |
7 | g.139962015T= | CA1747341053 | TBXAS1 | c.916T= (p.Ser306=) c.*705T= (n.*705T=) c.1054T= (p.Ser352=) c.919T= (p.Ser307=) c.1057T= (p.Ser353=) c.715T= (p.Ser239=) n.887T= n.399T= n.281T= c.859T= (p.Ser287=) c.-4294966113T= c.733T= (p.Ser245=) c.661T= (p.Ser221=) | |
7 | g.139962016C>A | CA369584549 | TBXAS1 | c.917C>A (p.Ser306Tyr) c.*706C>A (n.*706C>A) c.1055C>A (p.Ser352Tyr) c.920C>A (p.Ser307Tyr) c.1058C>A (p.Ser353Tyr) c.716C>A (p.Ser239Tyr) n.888C>A n.400C>A n.282C>A c.860C>A (p.Ser287Tyr) c.-4294966112C>A c.734C>A (p.Ser245Tyr) c.662C>A (p.Ser221Tyr) | |
7 | g.139962016C= | CA1747341054 | TBXAS1 | c.917C= (p.Ser306=) c.*706C= (n.*706C=) c.1055C= (p.Ser352=) c.920C= (p.Ser307=) c.1058C= (p.Ser353=) c.716C= (p.Ser239=) n.888C= n.400C= n.282C= c.860C= (p.Ser287=) c.-4294966112C= c.734C= (p.Ser245=) c.662C= (p.Ser221=) | |
7 | g.139962016C>G | CA369584538 | TBXAS1 | c.917C>G (p.Ser306Cys) c.*706C>G (n.*706C>G) c.1055C>G (p.Ser352Cys) c.920C>G (p.Ser307Cys) c.1058C>G (p.Ser353Cys) c.716C>G (p.Ser239Cys) n.888C>G n.400C>G n.282C>G c.860C>G (p.Ser287Cys) c.-4294966112C>G c.734C>G (p.Ser245Cys) c.662C>G (p.Ser221Cys) | |
7 | g.139962016C>T | CA369584546 | TBXAS1 | c.917C>T (p.Ser306Phe) c.*706C>T (n.*706C>T) c.1055C>T (p.Ser352Phe) c.920C>T (p.Ser307Phe) c.1058C>T (p.Ser353Phe) c.716C>T (p.Ser239Phe) n.888C>T n.400C>T n.282C>T c.860C>T (p.Ser287Phe) c.-4294966112C>T c.734C>T (p.Ser245Phe) c.662C>T (p.Ser221Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962016_139962042del | CA2685190567 | TBXAS1 | c.917_943del (p.Ser306_Arg315delinsTrp) c.*706_*732del (n.*706_*732del) c.1055_1081del (p.Ser352_Arg361delinsTrp) c.920_946del (p.Ser307_Arg316delinsTrp) c.1058_1084del (p.Ser353_Arg362delinsTrp) c.716_742del (p.Ser239_Arg248delinsTrp) n.888_914del n.400_426del n.282_308del c.860_886del (p.Ser287_Arg296delinsTrp) c.-4294966112_-4294966086del c.734_760del (p.Ser245_Arg254delinsTrp) c.662_688del (p.Ser221_Arg230delinsTrp) | gnomAD v4 |
7 | g.139962017T>A | CA458115413 | TBXAS1 | c.918T>A (p.Ser306=) c.*707T>A (n.*707T>A) c.1056T>A (p.Ser352=) c.921T>A (p.Ser307=) c.1059T>A (p.Ser353=) c.717T>A (p.Ser239=) n.889T>A n.401T>A n.283T>A c.861T>A (p.Ser287=) c.-4294966111T>A c.735T>A (p.Ser245=) c.663T>A (p.Ser221=) | |
7 | g.139962017T>C | CA458115412 | TBXAS1 | c.918T>C (p.Ser306=) c.*707T>C (n.*707T>C) c.1056T>C (p.Ser352=) c.921T>C (p.Ser307=) c.1059T>C (p.Ser353=) c.717T>C (p.Ser239=) n.889T>C n.401T>C n.283T>C c.861T>C (p.Ser287=) c.-4294966111T>C c.735T>C (p.Ser245=) c.663T>C (p.Ser221=) | |
7 | g.139962017T>G | CA167953442 | TBXAS1 | c.918T>G (p.Ser306=) c.*707T>G (n.*707T>G) c.1056T>G (p.Ser352=) c.921T>G (p.Ser307=) c.1059T>G (p.Ser353=) c.717T>G (p.Ser239=) n.889T>G n.401T>G n.283T>G c.861T>G (p.Ser287=) c.-4294966111T>G c.735T>G (p.Ser245=) c.663T>G (p.Ser221=) | dbSNP gnomAD v4 |
7 | g.139962017T= | CA1747341055 | TBXAS1 | c.918T= (p.Ser306=) c.*707T= (n.*707T=) c.1056T= (p.Ser352=) c.921T= (p.Ser307=) c.1059T= (p.Ser353=) c.717T= (p.Ser239=) n.889T= n.401T= n.283T= c.861T= (p.Ser287=) c.-4294966111T= c.735T= (p.Ser245=) c.663T= (p.Ser221=) | |
7 | g.139962018A= | CA1747341056 | TBXAS1 | c.919A= (p.Thr307=) c.*708A= (n.*708A=) c.1057A= (p.Thr353=) c.922A= (p.Thr308=) c.1060A= (p.Thr354=) c.718A= (p.Thr240=) n.890A= n.402A= n.284A= c.862A= (p.Thr288=) c.-4294966110A= c.736A= (p.Thr246=) c.664A= (p.Thr222=) | |
7 | g.139962018A>C | CA369584564 | TBXAS1 | c.919A>C (p.Thr307Pro) c.*708A>C (n.*708A>C) c.1057A>C (p.Thr353Pro) c.922A>C (p.Thr308Pro) c.1060A>C (p.Thr354Pro) c.718A>C (p.Thr240Pro) n.890A>C n.402A>C n.284A>C c.862A>C (p.Thr288Pro) c.-4294966110A>C c.736A>C (p.Thr246Pro) c.664A>C (p.Thr222Pro) | |
7 | g.139962018A>G | CA4511848 | TBXAS1 | c.919A>G (p.Thr307Ala) c.*708A>G (n.*708A>G) c.1057A>G (p.Thr353Ala) c.922A>G (p.Thr308Ala) c.1060A>G (p.Thr354Ala) c.718A>G (p.Thr240Ala) n.890A>G n.402A>G n.284A>G c.862A>G (p.Thr288Ala) c.-4294966110A>G c.736A>G (p.Thr246Ala) c.664A>G (p.Thr222Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962018A>T | CA369584572 | TBXAS1 | c.919A>T (p.Thr307Ser) c.*708A>T (n.*708A>T) c.1057A>T (p.Thr353Ser) c.922A>T (p.Thr308Ser) c.1060A>T (p.Thr354Ser) c.718A>T (p.Thr240Ser) n.890A>T n.402A>T n.284A>T c.862A>T (p.Thr288Ser) c.-4294966110A>T c.736A>T (p.Thr246Ser) c.664A>T (p.Thr222Ser) | |
7 | g.139962019C>A | CA369584575 | TBXAS1 | c.920C>A (p.Thr307Asn) c.*709C>A (n.*709C>A) c.1058C>A (p.Thr353Asn) c.923C>A (p.Thr308Asn) c.1061C>A (p.Thr354Asn) c.719C>A (p.Thr240Asn) n.891C>A n.403C>A n.285C>A c.863C>A (p.Thr288Asn) c.-4294966109C>A c.737C>A (p.Thr246Asn) c.665C>A (p.Thr222Asn) | |
7 | g.139962019C= | CA1747341057 | TBXAS1 | c.920C= (p.Thr307=) c.*709C= (n.*709C=) c.1058C= (p.Thr353=) c.923C= (p.Thr308=) c.1061C= (p.Thr354=) c.719C= (p.Thr240=) n.891C= n.403C= n.285C= c.863C= (p.Thr288=) c.-4294966109C= c.737C= (p.Thr246=) c.665C= (p.Thr222=) | |
7 | g.139962019C>G | CA369584581 | TBXAS1 | c.920C>G (p.Thr307Ser) c.*709C>G (n.*709C>G) c.1058C>G (p.Thr353Ser) c.923C>G (p.Thr308Ser) c.1061C>G (p.Thr354Ser) c.719C>G (p.Thr240Ser) n.891C>G n.403C>G n.285C>G c.863C>G (p.Thr288Ser) c.-4294966109C>G c.737C>G (p.Thr246Ser) c.665C>G (p.Thr222Ser) | |
7 | g.139962019C>T | CA369584584 | TBXAS1 | c.920C>T (p.Thr307Ile) c.*709C>T (n.*709C>T) c.1058C>T (p.Thr353Ile) c.923C>T (p.Thr308Ile) c.1061C>T (p.Thr354Ile) c.719C>T (p.Thr240Ile) n.891C>T n.403C>T n.285C>T c.863C>T (p.Thr288Ile) c.-4294966109C>T c.737C>T (p.Thr246Ile) c.665C>T (p.Thr222Ile) | dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.139962020T>A | CA458115415 | TBXAS1 | c.921T>A (p.Thr307=) c.*710T>A (n.*710T>A) c.1059T>A (p.Thr353=) c.924T>A (p.Thr308=) c.1062T>A (p.Thr354=) c.720T>A (p.Thr240=) n.892T>A n.404T>A n.286T>A c.864T>A (p.Thr288=) c.-4294966108T>A c.738T>A (p.Thr246=) c.666T>A (p.Thr222=) | |
7 | g.139962020T>C | CA458115416 | TBXAS1 | c.921T>C (p.Thr307=) c.*710T>C (n.*710T>C) c.1059T>C (p.Thr353=) c.924T>C (p.Thr308=) c.1062T>C (p.Thr354=) c.720T>C (p.Thr240=) n.892T>C n.404T>C n.286T>C c.864T>C (p.Thr288=) c.-4294966108T>C c.738T>C (p.Thr246=) c.666T>C (p.Thr222=) | gnomAD v4 |
7 | g.139962020T>G | CA458115417 | TBXAS1 | c.921T>G (p.Thr307=) c.*710T>G (n.*710T>G) c.1059T>G (p.Thr353=) c.924T>G (p.Thr308=) c.1062T>G (p.Thr354=) c.720T>G (p.Thr240=) n.892T>G n.404T>G n.286T>G c.864T>G (p.Thr288=) c.-4294966108T>G c.738T>G (p.Thr246=) c.666T>G (p.Thr222=) | |
7 | g.139962021G>A | CA369584589 | TBXAS1 | c.922G>A (p.Gly308Arg) c.*711G>A (n.*711G>A) c.1060G>A (p.Gly354Arg) c.925G>A (p.Gly309Arg) c.1063G>A (p.Gly355Arg) c.721G>A (p.Gly241Arg) n.893G>A n.405G>A n.287G>A c.865G>A (p.Gly289Arg) c.-4294966107G>A c.739G>A (p.Gly247Arg) c.667G>A (p.Gly223Arg) | |
7 | g.139962021G>C | CA369584594 | TBXAS1 | c.922G>C (p.Gly308Arg) c.*711G>C (n.*711G>C) c.1060G>C (p.Gly354Arg) c.925G>C (p.Gly309Arg) c.1063G>C (p.Gly355Arg) c.721G>C (p.Gly241Arg) n.893G>C n.405G>C n.287G>C c.865G>C (p.Gly289Arg) c.-4294966107G>C c.739G>C (p.Gly247Arg) c.667G>C (p.Gly223Arg) | |
7 | g.139962021G>T | CA369584596 | TBXAS1 | c.922G>T (p.Gly308Trp) c.*711G>T (n.*711G>T) c.1060G>T (p.Gly354Trp) c.925G>T (p.Gly309Trp) c.1063G>T (p.Gly355Trp) c.721G>T (p.Gly241Trp) n.893G>T n.405G>T n.287G>T c.865G>T (p.Gly289Trp) c.-4294966107G>T c.739G>T (p.Gly247Trp) c.667G>T (p.Gly223Trp) | |
7 | g.139962022G>A | CA369584603 | TBXAS1 | c.923G>A (p.Gly308Glu) c.*712G>A (n.*712G>A) c.1061G>A (p.Gly354Glu) c.926G>A (p.Gly309Glu) c.1064G>A (p.Gly355Glu) c.722G>A (p.Gly241Glu) n.894G>A n.406G>A n.288G>A c.866G>A (p.Gly289Glu) c.-4294966106G>A c.740G>A (p.Gly247Glu) c.668G>A (p.Gly223Glu) | |
7 | g.139962022G>C | CA369584606 | TBXAS1 | c.923G>C (p.Gly308Ala) c.*712G>C (n.*712G>C) c.1061G>C (p.Gly354Ala) c.926G>C (p.Gly309Ala) c.1064G>C (p.Gly355Ala) c.722G>C (p.Gly241Ala) n.894G>C n.406G>C n.288G>C c.866G>C (p.Gly289Ala) c.-4294966106G>C c.740G>C (p.Gly247Ala) c.668G>C (p.Gly223Ala) | |
7 | g.139962022G>T | CA369584600 | TBXAS1 | c.923G>T (p.Gly308Val) c.*712G>T (n.*712G>T) c.1061G>T (p.Gly354Val) c.926G>T (p.Gly309Val) c.1064G>T (p.Gly355Val) c.722G>T (p.Gly241Val) n.894G>T n.406G>T n.288G>T c.866G>T (p.Gly289Val) c.-4294966106G>T c.740G>T (p.Gly247Val) c.668G>T (p.Gly223Val) | |
7 | g.139962023G>A | CA458115418 | TBXAS1 | c.924G>A (p.Gly308=) c.*713G>A (n.*713G>A) c.1062G>A (p.Gly354=) c.927G>A (p.Gly309=) c.1065G>A (p.Gly355=) c.723G>A (p.Gly241=) n.895G>A n.407G>A n.289G>A c.867G>A (p.Gly289=) c.-4294966105G>A c.741G>A (p.Gly247=) c.669G>A (p.Gly223=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962023G>C | CA458115419 | TBXAS1 | c.924G>C (p.Gly308=) c.*713G>C (n.*713G>C) c.1062G>C (p.Gly354=) c.927G>C (p.Gly309=) c.1065G>C (p.Gly355=) c.723G>C (p.Gly241=) n.895G>C n.407G>C n.289G>C c.867G>C (p.Gly289=) c.-4294966105G>C c.741G>C (p.Gly247=) c.669G>C (p.Gly223=) | |
7 | g.139962023G= | CA1747341058 | TBXAS1 | c.924G= (p.Gly308=) c.*713G= (n.*713G=) c.1062G= (p.Gly354=) c.927G= (p.Gly309=) c.1065G= (p.Gly355=) c.723G= (p.Gly241=) n.895G= n.407G= n.289G= c.867G= (p.Gly289=) c.-4294966105G= c.741G= (p.Gly247=) c.669G= (p.Gly223=) | |
7 | g.139962023G>T | CA458115420 | TBXAS1 | c.924G>T (p.Gly308=) c.*713G>T (n.*713G>T) c.1062G>T (p.Gly354=) c.927G>T (p.Gly309=) c.1065G>T (p.Gly355=) c.723G>T (p.Gly241=) n.895G>T n.407G>T n.289G>T c.867G>T (p.Gly289=) c.-4294966105G>T c.741G>T (p.Gly247=) c.669G>T (p.Gly223=) | |
7 | g.139962024T>A | CA369584612 | TBXAS1 | c.925T>A (p.Cys309Ser) c.*714T>A (n.*714T>A) c.1063T>A (p.Cys355Ser) c.928T>A (p.Cys310Ser) c.1066T>A (p.Cys356Ser) c.724T>A (p.Cys242Ser) n.896T>A n.408T>A n.290T>A c.868T>A (p.Cys290Ser) c.-4294966104T>A c.742T>A (p.Cys248Ser) c.670T>A (p.Cys224Ser) | gnomAD v4 |
7 | g.139962024T>C | CA369584615 | TBXAS1 | c.925T>C (p.Cys309Arg) c.*714T>C (n.*714T>C) c.1063T>C (p.Cys355Arg) c.928T>C (p.Cys310Arg) c.1066T>C (p.Cys356Arg) c.724T>C (p.Cys242Arg) n.896T>C n.408T>C n.290T>C c.868T>C (p.Cys290Arg) c.-4294966104T>C c.742T>C (p.Cys248Arg) c.670T>C (p.Cys224Arg) | gnomAD v4 |
7 | g.139962024T>G | CA369584618 | TBXAS1 | c.925T>G (p.Cys309Gly) c.*714T>G (n.*714T>G) c.1063T>G (p.Cys355Gly) c.928T>G (p.Cys310Gly) c.1066T>G (p.Cys356Gly) c.724T>G (p.Cys242Gly) n.896T>G n.408T>G n.290T>G c.868T>G (p.Cys290Gly) c.-4294966104T>G c.742T>G (p.Cys248Gly) c.670T>G (p.Cys224Gly) | |
7 | g.139962025G>A | CA167953443 | TBXAS1 | c.926G>A (p.Cys309Tyr) c.*715G>A (n.*715G>A) c.1064G>A (p.Cys355Tyr) c.929G>A (p.Cys310Tyr) c.1067G>A (p.Cys356Tyr) c.725G>A (p.Cys242Tyr) n.897G>A n.409G>A n.291G>A c.869G>A (p.Cys290Tyr) c.-4294966103G>A c.743G>A (p.Cys248Tyr) c.671G>A (p.Cys224Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962025G>C | CA369584626 | TBXAS1 | c.926G>C (p.Cys309Ser) c.*715G>C (n.*715G>C) c.1064G>C (p.Cys355Ser) c.929G>C (p.Cys310Ser) c.1067G>C (p.Cys356Ser) c.725G>C (p.Cys242Ser) n.897G>C n.409G>C n.291G>C c.869G>C (p.Cys290Ser) c.-4294966103G>C c.743G>C (p.Cys248Ser) c.671G>C (p.Cys224Ser) | |
7 | g.139962025G= | CA1747341059 | TBXAS1 | c.926G= (p.Cys309=) c.*715G= (n.*715G=) c.1064G= (p.Cys355=) c.929G= (p.Cys310=) c.1067G= (p.Cys356=) c.725G= (p.Cys242=) n.897G= n.409G= n.291G= c.869G= (p.Cys290=) c.-4294966103G= c.743G= (p.Cys248=) c.671G= (p.Cys224=) | |
7 | g.139962025G>T | CA369584629 | TBXAS1 | c.926G>T (p.Cys309Phe) c.*715G>T (n.*715G>T) c.1064G>T (p.Cys355Phe) c.929G>T (p.Cys310Phe) c.1067G>T (p.Cys356Phe) c.725G>T (p.Cys242Phe) n.897G>T n.409G>T n.291G>T c.869G>T (p.Cys290Phe) c.-4294966103G>T c.743G>T (p.Cys248Phe) c.671G>T (p.Cys224Phe) | |
7 | g.139962026C>A | CA369584633 | TBXAS1 | c.927C>A (p.Cys309Ter) c.*716C>A (n.*716C>A) c.1065C>A (p.Cys355Ter) c.930C>A (p.Cys310Ter) c.1068C>A (p.Cys356Ter) c.726C>A (p.Cys242Ter) n.898C>A n.410C>A n.292C>A c.870C>A (p.Cys290Ter) c.-4294966102C>A c.744C>A (p.Cys248Ter) c.672C>A (p.Cys224Ter) | |
7 | g.139962026C>G | CA369584635 | TBXAS1 | c.927C>G (p.Cys309Trp) c.*716C>G (n.*716C>G) c.1065C>G (p.Cys355Trp) c.930C>G (p.Cys310Trp) c.1068C>G (p.Cys356Trp) c.726C>G (p.Cys242Trp) n.898C>G n.410C>G n.292C>G c.870C>G (p.Cys290Trp) c.-4294966102C>G c.744C>G (p.Cys248Trp) c.672C>G (p.Cys224Trp) | |
7 | g.139962026C>T | CA458115421 | TBXAS1 | c.927C>T (p.Cys309=) c.*716C>T (n.*716C>T) c.1065C>T (p.Cys355=) c.930C>T (p.Cys310=) c.1068C>T (p.Cys356=) c.726C>T (p.Cys242=) n.898C>T n.410C>T n.292C>T c.870C>T (p.Cys290=) c.-4294966102C>T c.744C>T (p.Cys248=) c.672C>T (p.Cys224=) | |
7 | g.139962027A= | CA1747341060 | TBXAS1 | c.928A= (p.Lys310=) c.*717A= (n.*717A=) c.1066A= (p.Lys356=) c.931A= (p.Lys311=) c.1069A= (p.Lys357=) c.727A= (p.Lys243=) n.899A= n.411A= n.293A= c.871A= (p.Lys291=) c.-4294966101A= c.745A= (p.Lys249=) c.673A= (p.Lys225=) | |
7 | g.139962027A>C | CA369584640 | TBXAS1 | c.928A>C (p.Lys310Gln) c.*717A>C (n.*717A>C) c.1066A>C (p.Lys356Gln) c.931A>C (p.Lys311Gln) c.1069A>C (p.Lys357Gln) c.727A>C (p.Lys243Gln) n.899A>C n.411A>C n.293A>C c.871A>C (p.Lys291Gln) c.-4294966101A>C c.745A>C (p.Lys249Gln) c.673A>C (p.Lys225Gln) | |
7 | g.139962027A>G | CA4511849 | TBXAS1 | c.928A>G (p.Lys310Glu) c.*717A>G (n.*717A>G) c.1066A>G (p.Lys356Glu) c.931A>G (p.Lys311Glu) c.1069A>G (p.Lys357Glu) c.727A>G (p.Lys243Glu) n.899A>G n.411A>G n.293A>G c.871A>G (p.Lys291Glu) c.-4294966101A>G c.745A>G (p.Lys249Glu) c.673A>G (p.Lys225Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962027A>T | CA369584646 | TBXAS1 | c.928A>T (p.Lys310Ter) c.*717A>T (n.*717A>T) c.1066A>T (p.Lys356Ter) c.931A>T (p.Lys311Ter) c.1069A>T (p.Lys357Ter) c.727A>T (p.Lys243Ter) n.899A>T n.411A>T n.293A>T c.871A>T (p.Lys291Ter) c.-4294966101A>T c.745A>T (p.Lys249Ter) c.673A>T (p.Lys225Ter) | |
7 | g.139962028A= | CA1747341061 | TBXAS1 | c.929A= (p.Lys310=) c.*718A= (n.*718A=) c.1067A= (p.Lys356=) c.932A= (p.Lys311=) c.1070A= (p.Lys357=) c.728A= (p.Lys243=) n.900A= n.412A= n.294A= c.872A= (p.Lys291=) c.-4294966100A= c.746A= (p.Lys249=) c.674A= (p.Lys225=) | |
7 | g.139962028A>C | CA4511850 | TBXAS1 | c.929A>C (p.Lys310Thr) c.*718A>C (n.*718A>C) c.1067A>C (p.Lys356Thr) c.932A>C (p.Lys311Thr) c.1070A>C (p.Lys357Thr) c.728A>C (p.Lys243Thr) n.900A>C n.412A>C n.294A>C c.872A>C (p.Lys291Thr) c.-4294966100A>C c.746A>C (p.Lys249Thr) c.674A>C (p.Lys225Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962028A>G | CA369584653 | TBXAS1 | c.929A>G (p.Lys310Arg) c.*718A>G (n.*718A>G) c.1067A>G (p.Lys356Arg) c.932A>G (p.Lys311Arg) c.1070A>G (p.Lys357Arg) c.728A>G (p.Lys243Arg) n.900A>G n.412A>G n.294A>G c.872A>G (p.Lys291Arg) c.-4294966100A>G c.746A>G (p.Lys249Arg) c.674A>G (p.Lys225Arg) | |
7 | g.139962028A>T | CA369584657 | TBXAS1 | c.929A>T (p.Lys310Met) c.*718A>T (n.*718A>T) c.1067A>T (p.Lys356Met) c.932A>T (p.Lys311Met) c.1070A>T (p.Lys357Met) c.728A>T (p.Lys243Met) n.900A>T n.412A>T n.294A>T c.872A>T (p.Lys291Met) c.-4294966100A>T c.746A>T (p.Lys249Met) c.674A>T (p.Lys225Met) | |
7 | g.139962029G>A | CA458115424 | TBXAS1 | c.930G>A (p.Lys310=) c.*719G>A (n.*719G>A) c.1068G>A (p.Lys356=) c.933G>A (p.Lys311=) c.1071G>A (p.Lys357=) c.729G>A (p.Lys243=) n.901G>A n.413G>A n.295G>A c.873G>A (p.Lys291=) c.-4294966099G>A c.747G>A (p.Lys249=) c.675G>A (p.Lys225=) | gnomAD v4 |
7 | g.139962029G>C | CA369584662 | TBXAS1 | c.930G>C (p.Lys310Asn) c.*719G>C (n.*719G>C) c.1068G>C (p.Lys356Asn) c.933G>C (p.Lys311Asn) c.1071G>C (p.Lys357Asn) c.729G>C (p.Lys243Asn) n.901G>C n.413G>C n.295G>C c.873G>C (p.Lys291Asn) c.-4294966099G>C c.747G>C (p.Lys249Asn) c.675G>C (p.Lys225Asn) | |
7 | g.139962029G>T | CA369584664 | TBXAS1 | c.930G>T (p.Lys310Asn) c.*719G>T (n.*719G>T) c.1068G>T (p.Lys356Asn) c.933G>T (p.Lys311Asn) c.1071G>T (p.Lys357Asn) c.729G>T (p.Lys243Asn) n.901G>T n.413G>T n.295G>T c.873G>T (p.Lys291Asn) c.-4294966099G>T c.747G>T (p.Lys249Asn) c.675G>T (p.Lys225Asn) | |
7 | g.139962030C>A | CA369584670 | TBXAS1 | c.931C>A (p.Pro311Thr) c.*720C>A (n.*720C>A) c.1069C>A (p.Pro357Thr) c.934C>A (p.Pro312Thr) c.1072C>A (p.Pro358Thr) c.730C>A (p.Pro244Thr) n.902C>A n.414C>A n.296C>A c.874C>A (p.Pro292Thr) c.-4294966098C>A c.748C>A (p.Pro250Thr) c.676C>A (p.Pro226Thr) | |
7 | g.139962030C>G | CA369584673 | TBXAS1 | c.931C>G (p.Pro311Ala) c.*720C>G (n.*720C>G) c.1069C>G (p.Pro357Ala) c.934C>G (p.Pro312Ala) c.1072C>G (p.Pro358Ala) c.730C>G (p.Pro244Ala) n.902C>G n.414C>G n.296C>G c.874C>G (p.Pro292Ala) c.-4294966098C>G c.748C>G (p.Pro250Ala) c.676C>G (p.Pro226Ala) | |
7 | g.139962030C>T | CA369584675 | TBXAS1 | c.931C>T (p.Pro311Ser) c.*720C>T (n.*720C>T) c.1069C>T (p.Pro357Ser) c.934C>T (p.Pro312Ser) c.1072C>T (p.Pro358Ser) c.730C>T (p.Pro244Ser) n.902C>T n.414C>T n.296C>T c.874C>T (p.Pro292Ser) c.-4294966098C>T c.748C>T (p.Pro250Ser) c.676C>T (p.Pro226Ser) | dbSNP |
7 | g.139962031C>A | CA369584681 | TBXAS1 | c.932C>A (p.Pro311Gln) c.*721C>A (n.*721C>A) c.1070C>A (p.Pro357Gln) c.935C>A (p.Pro312Gln) c.1073C>A (p.Pro358Gln) c.731C>A (p.Pro244Gln) n.903C>A n.415C>A n.297C>A c.875C>A (p.Pro292Gln) c.-4294966097C>A c.749C>A (p.Pro250Gln) c.677C>A (p.Pro226Gln) | |
7 | g.139962031C= | CA1747341062 | TBXAS1 | c.932C= (p.Pro311=) c.*721C= (n.*721C=) c.1070C= (p.Pro357=) c.935C= (p.Pro312=) c.1073C= (p.Pro358=) c.731C= (p.Pro244=) n.903C= n.415C= n.297C= c.875C= (p.Pro292=) c.-4294966097C= c.749C= (p.Pro250=) c.677C= (p.Pro226=) | |
7 | g.139962031C>G | CA4511851 | TBXAS1 | c.932C>G (p.Pro311Arg) c.*721C>G (n.*721C>G) c.1070C>G (p.Pro357Arg) c.935C>G (p.Pro312Arg) c.1073C>G (p.Pro358Arg) c.731C>G (p.Pro244Arg) n.903C>G n.415C>G n.297C>G c.875C>G (p.Pro292Arg) c.-4294966097C>G c.749C>G (p.Pro250Arg) c.677C>G (p.Pro226Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962031C>T | CA4511852 | TBXAS1 | c.932C>T (p.Pro311Leu) c.*721C>T (n.*721C>T) c.1070C>T (p.Pro357Leu) c.935C>T (p.Pro312Leu) c.1073C>T (p.Pro358Leu) c.731C>T (p.Pro244Leu) n.903C>T n.415C>T n.297C>T c.875C>T (p.Pro292Leu) c.-4294966097C>T c.749C>T (p.Pro250Leu) c.677C>T (p.Pro226Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962032G>A | CA4511853 | TBXAS1 | c.933G>A (p.Pro311=) c.*722G>A (n.*722G>A) c.1071G>A (p.Pro357=) c.936G>A (p.Pro312=) c.1074G>A (p.Pro358=) c.732G>A (p.Pro244=) n.904G>A n.416G>A n.298G>A c.876G>A (p.Pro292=) c.-4294966096G>A c.750G>A (p.Pro250=) c.678G>A (p.Pro226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962032G>C | CA458115425 | TBXAS1 | c.933G>C (p.Pro311=) c.*722G>C (n.*722G>C) c.1071G>C (p.Pro357=) c.936G>C (p.Pro312=) c.1074G>C (p.Pro358=) c.732G>C (p.Pro244=) n.904G>C n.416G>C n.298G>C c.876G>C (p.Pro292=) c.-4294966096G>C c.750G>C (p.Pro250=) c.678G>C (p.Pro226=) | |
7 | g.139962032G= | CA1747341063 | TBXAS1 | c.933G= (p.Pro311=) c.*722G= (n.*722G=) c.1071G= (p.Pro357=) c.936G= (p.Pro312=) c.1074G= (p.Pro358=) c.732G= (p.Pro244=) n.904G= n.416G= n.298G= c.876G= (p.Pro292=) c.-4294966096G= c.750G= (p.Pro250=) c.678G= (p.Pro226=) | |
7 | g.139962032G>T | CA458115426 | TBXAS1 | c.933G>T (p.Pro311=) c.*722G>T (n.*722G>T) c.1071G>T (p.Pro357=) c.936G>T (p.Pro312=) c.1074G>T (p.Pro358=) c.732G>T (p.Pro244=) n.904G>T n.416G>T n.298G>T c.876G>T (p.Pro292=) c.-4294966096G>T c.750G>T (p.Pro250=) c.678G>T (p.Pro226=) |