| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19764991dup | CA2988384669 | TBX1 | c.271dup (p.Arg91ProfsTer13) c.745dup (p.Arg249ProfsTer13) c.718dup (p.Arg240ProfsTer13) c.868dup (p.Arg290ProfsTer13) c.19dup (p.Arg7ProfsTer13) | |
| 22 | g.19764991del | CA645609783 | TBX1 | c.271del (p.Arg91AlafsTer?) c.745del (p.Arg249AlafsTer?) c.718del (p.Arg240AlafsTer?) c.868del (p.Arg290AlafsTer?) c.19del (p.Arg7AlafsTer?) | COSMIC COSMIC COSMIC |
| 22 | g.19764989C>A | CA410683285 | TBX1 | c.269C>A (p.Pro90His) c.743C>A (p.Pro248His) c.716C>A (p.Pro239His) c.866C>A (p.Pro289His) c.17C>A (p.Pro6His) | |
| 22 | g.19764989C= | CA2396031426 | TBX1 | c.269C= (p.Pro90=) c.743C= (p.Pro248=) c.716C= (p.Pro239=) c.866C= (p.Pro289=) c.17C= (p.Pro6=) | |
| 22 | g.19764989C>G | CA410683284 | TBX1 | c.269C>G (p.Pro90Arg) c.743C>G (p.Pro248Arg) c.716C>G (p.Pro239Arg) c.866C>G (p.Pro289Arg) c.17C>G (p.Pro6Arg) | |
| 22 | g.19764989C>T | CA410683283 | TBX1 | c.269C>T (p.Pro90Leu) c.743C>T (p.Pro248Leu) c.716C>T (p.Pro239Leu) c.866C>T (p.Pro289Leu) c.17C>T (p.Pro6Leu) | dbSNP |
| 22 | g.19764990C>A | CA513361380 | TBX1 | c.270C>A (p.Pro90=) c.744C>A (p.Pro248=) c.717C>A (p.Pro239=) c.867C>A (p.Pro289=) c.18C>A (p.Pro6=) | |
| 22 | g.19764990C>G | CA513361381 | TBX1 | c.270C>G (p.Pro90=) c.744C>G (p.Pro248=) c.717C>G (p.Pro239=) c.867C>G (p.Pro289=) c.18C>G (p.Pro6=) | |
| 22 | g.19764990C>T | CA513361382 | TBX1 | c.270C>T (p.Pro90=) c.744C>T (p.Pro248=) c.717C>T (p.Pro239=) c.867C>T (p.Pro289=) c.18C>T (p.Pro6=) | |
| 22 | g.19764991C>A | CA410683286 | TBX1 | c.271C>A (p.Arg91Ser) c.745C>A (p.Arg249Ser) c.718C>A (p.Arg240Ser) c.868C>A (p.Arg290Ser) c.19C>A (p.Arg7Ser) | |
| 22 | g.19764991C= | CA2396031427 | TBX1 | c.271C= (p.Arg91=) c.745C= (p.Arg249=) c.718C= (p.Arg240=) c.868C= (p.Arg290=) c.19C= (p.Arg7=) | |
| 22 | g.19764991C>G | CA410683288 | TBX1 | c.271C>G (p.Arg91Gly) c.745C>G (p.Arg249Gly) c.718C>G (p.Arg240Gly) c.868C>G (p.Arg290Gly) c.19C>G (p.Arg7Gly) | |
| 22 | g.19764991C>T | CA410683287 | TBX1 | c.271C>T (p.Arg91Cys) c.745C>T (p.Arg249Cys) c.718C>T (p.Arg240Cys) c.868C>T (p.Arg290Cys) c.19C>T (p.Arg7Cys) | ClinVar dbSNP gnomAD v4 |
| 22 | g.19764992G>A | CA410683289 | TBX1 | c.272G>A (p.Arg91His) c.746G>A (p.Arg249His) c.719G>A (p.Arg240His) c.869G>A (p.Arg290His) c.20G>A (p.Arg7His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 22 | g.19764992G>C | CA410683291 | TBX1 | c.272G>C (p.Arg91Pro) c.746G>C (p.Arg249Pro) c.719G>C (p.Arg240Pro) c.869G>C (p.Arg290Pro) c.20G>C (p.Arg7Pro) | |
| 22 | g.19764992G= | CA2396031428 | TBX1 | c.272G= (p.Arg91=) c.746G= (p.Arg249=) c.719G= (p.Arg240=) c.869G= (p.Arg290=) c.20G= (p.Arg7=) | |
| 22 | g.19764992G>T | CA410683290 | TBX1 | c.272G>T (p.Arg91Leu) c.746G>T (p.Arg249Leu) c.719G>T (p.Arg240Leu) c.869G>T (p.Arg290Leu) c.20G>T (p.Arg7Leu) | |
| 22 | g.19764993C>A | CA513361383 | TBX1 | c.273C>A (p.Arg91=) c.747C>A (p.Arg249=) c.720C>A (p.Arg240=) c.870C>A (p.Arg290=) c.21C>A (p.Arg7=) | |
| 22 | g.19764993C>G | CA513361384 | TBX1 | c.273C>G (p.Arg91=) c.747C>G (p.Arg249=) c.720C>G (p.Arg240=) c.870C>G (p.Arg290=) c.21C>G (p.Arg7=) | |
| 22 | g.19764993C>T | CA513361385 | TBX1 | c.273C>T (p.Arg91=) c.747C>T (p.Arg249=) c.720C>T (p.Arg240=) c.870C>T (p.Arg290=) c.21C>T (p.Arg7=) | gnomAD v4 |
| 22 | g.19764994T>A | CA410683292 | TBX1 | c.274T>A (p.Phe92Ile) c.748T>A (p.Phe250Ile) c.721T>A (p.Phe241Ile) c.871T>A (p.Phe291Ile) c.22T>A (p.Phe8Ile) | |
| 22 | g.19764994T>C | CA410683294 | TBX1 | c.274T>C (p.Phe92Leu) c.748T>C (p.Phe250Leu) c.721T>C (p.Phe241Leu) c.871T>C (p.Phe291Leu) c.22T>C (p.Phe8Leu) | gnomAD v4 |
| 22 | g.19764994T>G | CA410683293 | TBX1 | c.274T>G (p.Phe92Val) c.748T>G (p.Phe250Val) c.721T>G (p.Phe241Val) c.871T>G (p.Phe291Val) c.22T>G (p.Phe8Val) | |
| 22 | g.19764995T>A | CA410683295 | TBX1 | c.275T>A (p.Phe92Tyr) c.749T>A (p.Phe250Tyr) c.722T>A (p.Phe241Tyr) c.872T>A (p.Phe291Tyr) c.23T>A (p.Phe8Tyr) | |
| 22 | g.19764995T>C | CA410683297 | TBX1 | c.275T>C (p.Phe92Ser) c.749T>C (p.Phe250Ser) c.722T>C (p.Phe241Ser) c.872T>C (p.Phe291Ser) c.23T>C (p.Phe8Ser) | COSMIC |
| 22 | g.19764995T>G | CA410683296 | TBX1 | c.275T>G (p.Phe92Cys) c.749T>G (p.Phe250Cys) c.722T>G (p.Phe241Cys) c.872T>G (p.Phe291Cys) c.23T>G (p.Phe8Cys) | |
| 22 | g.19764996C>A | CA410683298 | TBX1 | c.276C>A (p.Phe92Leu) c.750C>A (p.Phe250Leu) c.723C>A (p.Phe241Leu) c.873C>A (p.Phe291Leu) c.24C>A (p.Phe8Leu) | |
| 22 | g.19764996C= | CA2396031429 | TBX1 | c.276C= (p.Phe92=) c.750C= (p.Phe250=) c.723C= (p.Phe241=) c.873C= (p.Phe291=) c.24C= (p.Phe8=) | |
| 22 | g.19764996C>G | CA410683299 | TBX1 | c.276C>G (p.Phe92Leu) c.750C>G (p.Phe250Leu) c.723C>G (p.Phe241Leu) c.873C>G (p.Phe291Leu) c.24C>G (p.Phe8Leu) | |
| 22 | g.19764996C>T | CA513361386 | TBX1 | c.276C>T (p.Phe92=) c.750C>T (p.Phe250=) c.723C>T (p.Phe241=) c.873C>T (p.Phe291=) c.24C>T (p.Phe8=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19764997C>A | CA410683300 | TBX1 | c.277C>A (p.His93Asn) c.751C>A (p.His251Asn) c.724C>A (p.His242Asn) c.874C>A (p.His292Asn) c.25C>A (p.His9Asn) | |
| 22 | g.19764997C>G | CA410683301 | TBX1 | c.277C>G (p.His93Asp) c.751C>G (p.His251Asp) c.724C>G (p.His242Asp) c.874C>G (p.His292Asp) c.25C>G (p.His9Asp) | |
| 22 | g.19764997C>T | CA410683302 | TBX1 | c.277C>T (p.His93Tyr) c.751C>T (p.His251Tyr) c.724C>T (p.His242Tyr) c.874C>T (p.His292Tyr) c.25C>T (p.His9Tyr) | |
| 22 | g.19764998A>C | CA410683303 | TBX1 | c.278A>C (p.His93Pro) c.752A>C (p.His251Pro) c.725A>C (p.His242Pro) c.875A>C (p.His292Pro) c.26A>C (p.His9Pro) | |
| 22 | g.19764998A>G | CA410683304 | TBX1 | c.278A>G (p.His93Arg) c.752A>G (p.His251Arg) c.725A>G (p.His242Arg) c.875A>G (p.His292Arg) c.26A>G (p.His9Arg) | |
| 22 | g.19764998A>T | CA410683305 | TBX1 | c.278A>T (p.His93Leu) c.752A>T (p.His251Leu) c.725A>T (p.His242Leu) c.875A>T (p.His292Leu) c.26A>T (p.His9Leu) | |
| 22 | g.19764999C>A | CA410683306 | TBX1 | c.279C>A (p.His93Gln) c.753C>A (p.His251Gln) c.726C>A (p.His242Gln) c.876C>A (p.His292Gln) c.27C>A (p.His9Gln) | |
| 22 | g.19764999C= | CA2396031430 | TBX1 | c.279C= (p.His93=) c.753C= (p.His251=) c.726C= (p.His242=) c.876C= (p.His292=) c.27C= (p.His9=) | |
| 22 | g.19764999C>G | CA410683307 | TBX1 | c.279C>G (p.His93Gln) c.753C>G (p.His251Gln) c.726C>G (p.His242Gln) c.876C>G (p.His292Gln) c.27C>G (p.His9Gln) | |
| 22 | g.19764999C>T | CA10102552 | TBX1 | c.279C>T (p.His93=) c.753C>T (p.His251=) c.726C>T (p.His242=) c.876C>T (p.His292=) c.27C>T (p.His9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 22 | g.19765000G>A | CA410683308 | TBX1 | c.280G>A (p.Val94Met) c.754G>A (p.Val252Met) c.727G>A (p.Val243Met) c.877G>A (p.Val293Met) c.28G>A (p.Val10Met) | ClinVar gnomAD v4 |
| 22 | g.19765000G>C | CA410683309 | TBX1 | c.280G>C (p.Val94Leu) c.754G>C (p.Val252Leu) c.727G>C (p.Val243Leu) c.877G>C (p.Val293Leu) c.28G>C (p.Val10Leu) | |
| 22 | g.19765000G>T | CA410683310 | TBX1 | c.280G>T (p.Val94Leu) c.754G>T (p.Val252Leu) c.727G>T (p.Val243Leu) c.877G>T (p.Val293Leu) c.28G>T (p.Val10Leu) | |
| 22 | g.19765001T>A | CA410683311 | TBX1 | c.281T>A (p.Val94Glu) c.755T>A (p.Val252Glu) c.728T>A (p.Val243Glu) c.878T>A (p.Val293Glu) c.29T>A (p.Val10Glu) | |
| 22 | g.19765001T>C | CA410683313 | TBX1 | c.281T>C (p.Val94Ala) c.755T>C (p.Val252Ala) c.728T>C (p.Val243Ala) c.878T>C (p.Val293Ala) c.29T>C (p.Val10Ala) | |
| 22 | g.19765001T>G | CA410683312 | TBX1 | c.281T>G (p.Val94Gly) c.755T>G (p.Val252Gly) c.728T>G (p.Val243Gly) c.878T>G (p.Val293Gly) c.29T>G (p.Val10Gly) | |
| 22 | g.19765002G>A | CA513361387 | TBX1 | c.282G>A (p.Val94=) c.756G>A (p.Val252=) c.729G>A (p.Val243=) c.879G>A (p.Val293=) c.30G>A (p.Val10=) | gnomAD v4 |
| 22 | g.19765002G>C | CA513361388 | TBX1 | c.282G>C (p.Val94=) c.756G>C (p.Val252=) c.729G>C (p.Val243=) c.879G>C (p.Val293=) c.30G>C (p.Val10=) | |
| 22 | g.19765002G>T | CA513361389 | TBX1 | c.282G>T (p.Val94=) c.756G>T (p.Val252=) c.729G>T (p.Val243=) c.879G>T (p.Val293=) c.30G>T (p.Val10=) | |
| 22 | g.19765003G>A | CA410683314 | TBX1 | c.283G>A (p.Val95Ile) c.757G>A (p.Val253Ile) c.730G>A (p.Val244Ile) c.880G>A (p.Val294Ile) c.31G>A (p.Val11Ile) | gnomAD v4 |