| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.110618543del | CA2580617619 | PITX2 | c.332del (p.Gly111AlafsTer?) c.457del (p.Ala153ProfsTer21) n.525del n.529del c.538del (p.Ala180ProfsTer21) n.601del c.559del (p.Ala187ProfsTer21) n.490del c.400del (p.Ala134ProfsTer21) n.865del n.286del c.205del (p.Ala69ProfsTer21) | |
| 4 | g.110618542C>A | CA357984139 | PITX2 | c.331G>T (p.Gly111Cys) c.456G>T (p.Trp152Cys) n.524G>T n.528G>T c.537G>T (p.Trp179Cys) n.600G>T c.558G>T (p.Trp186Cys) n.489G>T c.399G>T (p.Trp133Cys) n.864G>T n.285G>T c.204G>T (p.Trp68Cys) | |
| 4 | g.110618542C= | CA1485098075 | PITX2 | c.331G= (p.Gly111=) c.456G= (p.Trp152=) n.524G= n.528G= c.537G= (p.Trp179=) n.600G= c.558G= (p.Trp186=) n.489G= c.399G= (p.Trp133=) n.864G= n.285G= c.204G= (p.Trp68=) | |
| 4 | g.110618542C>G | CA357984140 | PITX2 | c.331G>C (p.Gly111Arg) c.456G>C (p.Trp152Cys) n.524G>C n.528G>C c.537G>C (p.Trp179Cys) n.600G>C c.558G>C (p.Trp186Cys) n.489G>C c.399G>C (p.Trp133Cys) n.864G>C n.285G>C c.204G>C (p.Trp68Cys) | |
| 4 | g.110618542C>T | CA119287 | PITX2 | c.331G>A (p.Gly111Ser) c.456G>A (p.Trp152Ter) n.524G>A n.528G>A c.537G>A (p.Trp179Ter) n.600G>A c.558G>A (p.Trp186Ter) n.489G>A c.399G>A (p.Trp133Ter) n.864G>A n.285G>A c.204G>A (p.Trp68Ter) | ClinVar dbSNP |
| 4 | g.110618543C>A | CA357984143 | PITX2 | c.330G>T (p.Leu110=) c.455G>T (p.Trp152Leu) n.523G>T n.527G>T c.536G>T (p.Trp179Leu) n.599G>T c.557G>T (p.Trp186Leu) n.488G>T c.398G>T (p.Trp133Leu) n.863G>T n.284G>T c.203G>T (p.Trp68Leu) | |
| 4 | g.110618543C>G | CA357984141 | PITX2 | c.330G>C (p.Leu110=) c.455G>C (p.Trp152Ser) n.523G>C n.527G>C c.536G>C (p.Trp179Ser) n.599G>C c.557G>C (p.Trp186Ser) n.488G>C c.398G>C (p.Trp133Ser) n.863G>C n.284G>C c.203G>C (p.Trp68Ser) | |
| 4 | g.110618543C>T | CA357984142 | PITX2 | c.330G>A (p.Leu110=) c.455G>A (p.Trp152Ter) n.523G>A n.527G>A c.536G>A (p.Trp179Ter) n.599G>A c.557G>A (p.Trp186Ter) n.488G>A c.398G>A (p.Trp133Ter) n.863G>A n.284G>A c.203G>A (p.Trp68Ter) | ClinVar |
| 4 | g.110618544A= | CA1485098085 | PITX2 | c.329T= (p.Leu110=) c.454T= (p.Trp152=) n.522T= n.526T= c.535T= (p.Trp179=) n.598T= c.556T= (p.Trp186=) n.487T= c.397T= (p.Trp133=) n.862T= n.283T= c.202T= (p.Trp68=) | |
| 4 | g.110618544A>C | CA357984144 | PITX2 | c.329T>G (p.Leu110Arg) c.454T>G (p.Trp152Gly) n.522T>G n.526T>G c.535T>G (p.Trp179Gly) n.598T>G c.556T>G (p.Trp186Gly) n.487T>G c.397T>G (p.Trp133Gly) n.862T>G n.283T>G c.202T>G (p.Trp68Gly) | dbSNP |
| 4 | g.110618544A>G | CA357984145 | PITX2 | c.329T>C (p.Leu110Pro) c.454T>C (p.Trp152Arg) n.522T>C n.526T>C c.535T>C (p.Trp179Arg) n.598T>C c.556T>C (p.Trp186Arg) n.487T>C c.397T>C (p.Trp133Arg) n.862T>C n.283T>C c.202T>C (p.Trp68Arg) | |
| 4 | g.110618544A>T | CA357984146 | PITX2 | c.329T>A (p.Leu110Gln) c.454T>A (p.Trp152Arg) n.522T>A n.526T>A c.535T>A (p.Trp179Arg) n.598T>A c.556T>A (p.Trp186Arg) n.487T>A c.397T>A (p.Trp133Arg) n.862T>A n.283T>A c.202T>A (p.Trp68Arg) | |
| 4 | g.110618544_110618547delinsAGTT | CA1485098083 | PITX2 | c.326_329delinsAACT (p.Gln109=) c.451_454delinsAACT (p.Asn151=) n.519_522delinsAACT n.523_526delinsAACT c.532_535delinsAACT (p.Asn178=) n.595_598delinsAACT c.553_556delinsAACT (p.Asn185=) n.484_487delinsAACT c.394_397delinsAACT (p.Asn132=) n.859_862delinsAACT n.280_283delinsAACT c.199_202delinsAACT (p.Asn67=) | |
| 4 | g.110618545G>A | CA440822228 | PITX2 | c.328C>T (p.Leu110=) c.453C>T (p.Asn151=) n.521C>T n.525C>T c.534C>T (p.Asn178=) n.597C>T c.555C>T (p.Asn185=) n.486C>T c.396C>T (p.Asn132=) n.861C>T n.282C>T c.201C>T (p.Asn67=) | |
| 4 | g.110618545G>C | CA357984147 | PITX2 | c.328C>G (p.Leu110Val) c.453C>G (p.Asn151Lys) n.521C>G n.525C>G c.534C>G (p.Asn178Lys) n.597C>G c.555C>G (p.Asn185Lys) n.486C>G c.396C>G (p.Asn132Lys) n.861C>G n.282C>G c.201C>G (p.Asn67Lys) | |
| 4 | g.110618545G>T | CA357984148 | PITX2 | c.328C>A (p.Leu110Met) c.453C>A (p.Asn151Lys) n.521C>A n.525C>A c.534C>A (p.Asn178Lys) n.597C>A c.555C>A (p.Asn185Lys) n.486C>A c.396C>A (p.Asn132Lys) n.861C>A n.282C>A c.201C>A (p.Asn67Lys) | |
| 4 | g.110618550_110618552del | CA554052381 | PITX2 | c.326_328del (p.Gln109del) c.451_453del (p.Asn151del) n.519_521del n.523_525del c.532_534del (p.Asn178del) n.595_597del c.553_555del (p.Asn185del) n.484_486del c.394_396del (p.Asn132del) n.859_861del n.280_282del c.199_201del (p.Asn67del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618546T>A | CA357984150 | PITX2 | c.327A>T (p.Gln109His) c.452A>T (p.Asn151Ile) n.520A>T n.524A>T c.533A>T (p.Asn178Ile) n.596A>T c.554A>T (p.Asn185Ile) n.485A>T c.395A>T (p.Asn132Ile) n.860A>T n.281A>T c.200A>T (p.Asn67Ile) | |
| 4 | g.110618546T>C | CA104044410 | PITX2 | c.327A>G (p.Gln109=) c.452A>G (p.Asn151Ser) n.520A>G n.524A>G c.533A>G (p.Asn178Ser) n.596A>G c.554A>G (p.Asn185Ser) n.485A>G c.395A>G (p.Asn132Ser) n.860A>G n.281A>G c.200A>G (p.Asn67Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618546T>G | CA357984149 | PITX2 | c.327A>C (p.Gln109His) c.452A>C (p.Asn151Thr) n.520A>C n.524A>C c.533A>C (p.Asn178Thr) n.596A>C c.554A>C (p.Asn185Thr) n.485A>C c.395A>C (p.Asn132Thr) n.860A>C n.281A>C c.200A>C (p.Asn67Thr) | |
| 4 | g.110618546T= | CA1485098088 | PITX2 | c.327A= (p.Gln109=) c.452A= (p.Asn151=) n.520A= n.524A= c.533A= (p.Asn178=) n.596A= c.554A= (p.Asn185=) n.485A= c.395A= (p.Asn132=) n.860A= n.281A= c.200A= (p.Asn67=) | |
| 4 | g.110618547T>A | CA357984151 | PITX2 | c.326A>T (p.Gln109Leu) c.451A>T (p.Asn151Tyr) n.519A>T n.523A>T c.532A>T (p.Asn178Tyr) n.595A>T c.553A>T (p.Asn185Tyr) n.484A>T c.394A>T (p.Asn132Tyr) n.859A>T n.280A>T c.199A>T (p.Asn67Tyr) | |
| 4 | g.110618547T>C | CA357984152 | PITX2 | c.326A>G (p.Gln109Arg) c.451A>G (p.Asn151Asp) n.519A>G n.523A>G c.532A>G (p.Asn178Asp) n.595A>G c.553A>G (p.Asn185Asp) n.484A>G c.394A>G (p.Asn132Asp) n.859A>G n.280A>G c.199A>G (p.Asn67Asp) | |
| 4 | g.110618547T>G | CA357984153 | PITX2 | c.326A>C (p.Gln109Pro) c.451A>C (p.Asn151His) n.519A>C n.523A>C c.532A>C (p.Asn178His) n.595A>C c.553A>C (p.Asn185His) n.484A>C c.394A>C (p.Asn132His) n.859A>C n.280A>C c.199A>C (p.Asn67His) | |
| 4 | g.110618548G>A | CA357984154 | PITX2 | c.325C>T (p.Gln109Ter) c.450C>T (p.Asn150=) n.518C>T n.522C>T c.531C>T (p.Asn177=) n.594C>T c.552C>T (p.Asn184=) n.483C>T c.393C>T (p.Asn131=) n.858C>T n.279C>T c.198C>T (p.Asn66=) | |
| 4 | g.110618548G>C | CA357984155 | PITX2 | c.325C>G (p.Gln109Glu) c.450C>G (p.Asn150Lys) n.518C>G n.522C>G c.531C>G (p.Asn177Lys) n.594C>G c.552C>G (p.Asn184Lys) n.483C>G c.393C>G (p.Asn131Lys) n.858C>G n.279C>G c.198C>G (p.Asn66Lys) | |
| 4 | g.110618548G= | CA1485098094 | PITX2 | c.325C= (p.Gln109=) c.450C= (p.Asn150=) n.518C= n.522C= c.531C= (p.Asn177=) n.594C= c.552C= (p.Asn184=) n.483C= c.393C= (p.Asn131=) n.858C= n.279C= c.198C= (p.Asn66=) | |
| 4 | g.110618548G>T | CA357984156 | PITX2 | c.325C>A (p.Gln109Lys) c.450C>A (p.Asn150Lys) n.518C>A n.522C>A c.531C>A (p.Asn177Lys) n.594C>A c.552C>A (p.Asn184Lys) n.483C>A c.393C>A (p.Asn131Lys) n.858C>A n.279C>A c.198C>A (p.Asn66Lys) | dbSNP |
| 4 | g.110618549T>A | CA357984157 | PITX2 | c.324A>T (p.Gln108His) c.449A>T (p.Asn150Ile) n.517A>T n.521A>T c.530A>T (p.Asn177Ile) n.593A>T c.551A>T (p.Asn184Ile) n.482A>T c.392A>T (p.Asn131Ile) n.857A>T n.278A>T c.197A>T (p.Asn66Ile) | |
| 4 | g.110618549T>C | CA357984158 | PITX2 | c.324A>G (p.Gln108=) c.449A>G (p.Asn150Ser) n.517A>G n.521A>G c.530A>G (p.Asn177Ser) n.593A>G c.551A>G (p.Asn184Ser) n.482A>G c.392A>G (p.Asn131Ser) n.857A>G n.278A>G c.197A>G (p.Asn66Ser) | |
| 4 | g.110618549T>G | CA357984159 | PITX2 | c.324A>C (p.Gln108His) c.449A>C (p.Asn150Thr) n.517A>C n.521A>C c.530A>C (p.Asn177Thr) n.593A>C c.551A>C (p.Asn184Thr) n.482A>C c.392A>C (p.Asn131Thr) n.857A>C n.278A>C c.197A>C (p.Asn66Thr) | |
| 4 | g.110618550T>A | CA357984160 | PITX2 | c.323A>T (p.Gln108Leu) c.448A>T (p.Asn150Tyr) n.516A>T n.520A>T c.529A>T (p.Asn177Tyr) n.592A>T c.550A>T (p.Asn184Tyr) n.481A>T c.391A>T (p.Asn131Tyr) n.856A>T n.277A>T c.196A>T (p.Asn66Tyr) | |
| 4 | g.110618550T>C | CA357984161 | PITX2 | c.323A>G (p.Gln108Arg) c.448A>G (p.Asn150Asp) n.516A>G n.520A>G c.529A>G (p.Asn177Asp) n.592A>G c.550A>G (p.Asn184Asp) n.481A>G c.391A>G (p.Asn131Asp) n.856A>G n.277A>G c.196A>G (p.Asn66Asp) | |
| 4 | g.110618550T>G | CA357984162 | PITX2 | c.323A>C (p.Gln108Pro) c.448A>C (p.Asn150His) n.516A>C n.520A>C c.529A>C (p.Asn177His) n.592A>C c.550A>C (p.Asn184His) n.481A>C c.391A>C (p.Asn131His) n.856A>C n.277A>C c.196A>C (p.Asn66His) | |
| 4 | g.110618551G>A | CA357984165 | PITX2 | c.322C>T (p.Gln108Ter) c.447C>T (p.Tyr149=) n.515C>T n.519C>T c.528C>T (p.Tyr176=) n.591C>T c.549C>T (p.Tyr183=) n.480C>T c.390C>T (p.Tyr130=) n.855C>T n.276C>T c.195C>T (p.Tyr65=) | |
| 4 | g.110618551G>C | CA357984163 | PITX2 | c.322C>G (p.Gln108Glu) c.447C>G (p.Tyr149Ter) n.515C>G n.519C>G c.528C>G (p.Tyr176Ter) n.591C>G c.549C>G (p.Tyr183Ter) n.480C>G c.390C>G (p.Tyr130Ter) n.855C>G n.276C>G c.195C>G (p.Tyr65Ter) | |
| 4 | g.110618551G>T | CA357984164 | PITX2 | c.322C>A (p.Gln108Lys) c.447C>A (p.Tyr149Ter) n.515C>A n.519C>A c.528C>A (p.Tyr176Ter) n.591C>A c.549C>A (p.Tyr183Ter) n.480C>A c.390C>A (p.Tyr130Ter) n.855C>A n.276C>A c.195C>A (p.Tyr65Ter) | |
| 4 | g.110618552T>A | CA357984166 | PITX2 | c.321A>T (p.Leu107=) c.446A>T (p.Tyr149Phe) n.514A>T n.518A>T c.527A>T (p.Tyr176Phe) n.590A>T c.548A>T (p.Tyr183Phe) n.479A>T c.389A>T (p.Tyr130Phe) n.854A>T n.275A>T c.194A>T (p.Tyr65Phe) | |
| 4 | g.110618552T>C | CA3045469 | PITX2 | c.321A>G (p.Leu107=) c.446A>G (p.Tyr149Cys) n.514A>G n.518A>G c.527A>G (p.Tyr176Cys) n.590A>G c.548A>G (p.Tyr183Cys) n.479A>G c.389A>G (p.Tyr130Cys) n.854A>G n.275A>G c.194A>G (p.Tyr65Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618552T>G | CA357984167 | PITX2 | c.321A>C (p.Leu107=) c.446A>C (p.Tyr149Ser) n.514A>C n.518A>C c.527A>C (p.Tyr176Ser) n.590A>C c.548A>C (p.Tyr183Ser) n.479A>C c.389A>C (p.Tyr130Ser) n.854A>C n.275A>C c.194A>C (p.Tyr65Ser) | |
| 4 | g.110618552T= | CA1485098096 | PITX2 | c.321A= (p.Leu107=) c.446A= (p.Tyr149=) n.514A= n.518A= c.527A= (p.Tyr176=) n.590A= c.548A= (p.Tyr183=) n.479A= c.389A= (p.Tyr130=) n.854A= n.275A= c.194A= (p.Tyr65=) | |
| 4 | g.110618553A>C | CA357984168 | PITX2 | c.320T>G (p.Leu107Arg) c.445T>G (p.Tyr149Asp) n.513T>G n.517T>G c.526T>G (p.Tyr176Asp) n.589T>G c.547T>G (p.Tyr183Asp) n.478T>G c.388T>G (p.Tyr130Asp) n.853T>G n.274T>G c.193T>G (p.Tyr65Asp) | |
| 4 | g.110618553A>G | CA357984169 | PITX2 | c.320T>C (p.Leu107Pro) c.445T>C (p.Tyr149His) n.513T>C n.517T>C c.526T>C (p.Tyr176His) n.589T>C c.547T>C (p.Tyr183His) n.478T>C c.388T>C (p.Tyr130His) n.853T>C n.274T>C c.193T>C (p.Tyr65His) | |
| 4 | g.110618553A>T | CA357984170 | PITX2 | c.320T>A (p.Leu107Gln) c.445T>A (p.Tyr149Asn) n.513T>A n.517T>A c.526T>A (p.Tyr176Asn) n.589T>A c.547T>A (p.Tyr183Asn) n.478T>A c.388T>A (p.Tyr130Asn) n.853T>A n.274T>A c.193T>A (p.Tyr65Asn) | |
| 4 | g.110618554G>A | CA440822241 | PITX2 | c.319C>T (p.Leu107=) c.444C>T (p.Ser148=) n.512C>T n.516C>T c.525C>T (p.Ser175=) n.588C>T c.546C>T (p.Ser182=) n.477C>T c.387C>T (p.Ser129=) n.852C>T n.273C>T c.192C>T (p.Ser64=) | |
| 4 | g.110618554G>C | CA357984171 | PITX2 | c.319C>G (p.Leu107Val) c.444C>G (p.Ser148=) n.512C>G n.516C>G c.525C>G (p.Ser175=) n.588C>G c.546C>G (p.Ser182=) n.477C>G c.387C>G (p.Ser129=) n.852C>G n.273C>G c.192C>G (p.Ser64=) | dbSNP |
| 4 | g.110618554G= | CA1485098103 | PITX2 | c.319C= (p.Leu107=) c.444C= (p.Ser148=) n.512C= n.516C= c.525C= (p.Ser175=) n.588C= c.546C= (p.Ser182=) n.477C= c.387C= (p.Ser129=) n.852C= n.273C= c.192C= (p.Ser64=) | |
| 4 | g.110618554G>T | CA357984172 | PITX2 | c.319C>A (p.Leu107Ile) c.444C>A (p.Ser148=) n.512C>A n.516C>A c.525C>A (p.Ser175=) n.588C>A c.546C>A (p.Ser182=) n.477C>A c.387C>A (p.Ser129=) n.852C>A n.273C>A c.192C>A (p.Ser64=) | |
| 4 | g.110618555G>A | CA357984173 | PITX2 | c.318C>T (p.Phe106=) c.443C>T (p.Ser148Phe) n.511C>T n.515C>T c.524C>T (p.Ser175Phe) n.587C>T c.545C>T (p.Ser182Phe) n.476C>T c.386C>T (p.Ser129Phe) n.851C>T n.272C>T c.191C>T (p.Ser64Phe) | |
| 4 | g.110618555G>C | CA357984174 | PITX2 | c.318C>G (p.Phe106Leu) c.443C>G (p.Ser148Cys) n.511C>G n.515C>G c.524C>G (p.Ser175Cys) n.587C>G c.545C>G (p.Ser182Cys) n.476C>G c.386C>G (p.Ser129Cys) n.851C>G n.272C>G c.191C>G (p.Ser64Cys) | dbSNP |