Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.19764983A=CA2396031422TBX1c.263A= (p.Tyr88=)
c.737A= (p.Tyr246=)
c.710A= (p.Tyr237=)
c.860A= (p.Tyr287=)
c.11A= (p.Tyr4=)
22g.19764983A>CCA410683269TBX1c.263A>C (p.Tyr88Ser)
c.737A>C (p.Tyr246Ser)
c.710A>C (p.Tyr237Ser)
c.860A>C (p.Tyr287Ser)
c.11A>C (p.Tyr4Ser)
22g.19764983A>GCA410683270TBX1c.263A>G (p.Tyr88Cys)
c.737A>G (p.Tyr246Cys)
c.710A>G (p.Tyr237Cys)
c.860A>G (p.Tyr287Cys)
c.11A>G (p.Tyr4Cys)
 dbSNP
22g.19764983A>TCA410683268TBX1c.263A>T (p.Tyr88Phe)
c.737A>T (p.Tyr246Phe)
c.710A>T (p.Tyr237Phe)
c.860A>T (p.Tyr287Phe)
c.11A>T (p.Tyr4Phe)
22g.19764984C>ACA410683271TBX1c.264C>A (p.Tyr88Ter)
c.738C>A (p.Tyr246Ter)
c.711C>A (p.Tyr237Ter)
c.861C>A (p.Tyr287Ter)
c.12C>A (p.Tyr4Ter)
 gnomAD v4
22g.19764984C=CA2396031423TBX1c.264C= (p.Tyr88=)
c.738C= (p.Tyr246=)
c.711C= (p.Tyr237=)
c.861C= (p.Tyr287=)
c.12C= (p.Tyr4=)
22g.19764984C>GCA410683272TBX1c.264C>G (p.Tyr88Ter)
c.738C>G (p.Tyr246Ter)
c.711C>G (p.Tyr237Ter)
c.861C>G (p.Tyr287Ter)
c.12C>G (p.Tyr4Ter)
 dbSNP gnomAD v2 gnomAD v4
22g.19764984C>TCA513361379TBX1c.264C>T (p.Tyr88=)
c.738C>T (p.Tyr246=)
c.711C>T (p.Tyr237=)
c.861C>T (p.Tyr287=)
c.12C>T (p.Tyr4=)
 dbSNP
22g.19764985C>ACA410683273TBX1c.265C>A (p.Gln89Lys)
c.739C>A (p.Gln247Lys)
c.712C>A (p.Gln238Lys)
c.862C>A (p.Gln288Lys)
c.13C>A (p.Gln5Lys)
22g.19764985C>GCA410683274TBX1c.265C>G (p.Gln89Glu)
c.739C>G (p.Gln247Glu)
c.712C>G (p.Gln238Glu)
c.862C>G (p.Gln288Glu)
c.13C>G (p.Gln5Glu)
22g.19764985C>TCA410683275TBX1c.265C>T (p.Gln89Ter)
c.739C>T (p.Gln247Ter)
c.712C>T (p.Gln238Ter)
c.862C>T (p.Gln288Ter)
c.13C>T (p.Gln5Ter)
22g.19764986A=CA2396031424TBX1c.266A= (p.Gln89=)
c.740A= (p.Gln247=)
c.713A= (p.Gln238=)
c.863A= (p.Gln288=)
c.14A= (p.Gln5=)
22g.19764986A>CCA410683277TBX1c.266A>C (p.Gln89Pro)
c.740A>C (p.Gln247Pro)
c.713A>C (p.Gln238Pro)
c.863A>C (p.Gln288Pro)
c.14A>C (p.Gln5Pro)
22g.19764986A>GCA10102550TBX1c.266A>G (p.Gln89Arg)
c.740A>G (p.Gln247Arg)
c.713A>G (p.Gln238Arg)
c.863A>G (p.Gln288Arg)
c.14A>G (p.Gln5Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764986A>TCA410683276TBX1c.266A>T (p.Gln89Leu)
c.740A>T (p.Gln247Leu)
c.713A>T (p.Gln238Leu)
c.863A>T (p.Gln288Leu)
c.14A>T (p.Gln5Leu)
22g.19764987G>ACA10102551TBX1c.267G>A (p.Gln89=)
c.741G>A (p.Gln247=)
c.714G>A (p.Gln238=)
c.864G>A (p.Gln288=)
c.15G>A (p.Gln5=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764987G>CCA410683278TBX1c.267G>C (p.Gln89His)
c.741G>C (p.Gln247His)
c.714G>C (p.Gln238His)
c.864G>C (p.Gln288His)
c.15G>C (p.Gln5His)
22g.19764987G=CA2396031425TBX1c.267G= (p.Gln89=)
c.741G= (p.Gln247=)
c.714G= (p.Gln238=)
c.864G= (p.Gln288=)
c.15G= (p.Gln5=)
22g.19764987G>TCA410683279TBX1c.267G>T (p.Gln89His)
c.741G>T (p.Gln247His)
c.714G>T (p.Gln238His)
c.864G>T (p.Gln288His)
c.15G>T (p.Gln5His)
22g.19764988C>ACA410683280TBX1c.268C>A (p.Pro90Thr)
c.742C>A (p.Pro248Thr)
c.715C>A (p.Pro239Thr)
c.865C>A (p.Pro289Thr)
c.16C>A (p.Pro6Thr)
 COSMIC COSMIC COSMIC
22g.19764988C>GCA410683281TBX1c.268C>G (p.Pro90Ala)
c.742C>G (p.Pro248Ala)
c.715C>G (p.Pro239Ala)
c.865C>G (p.Pro289Ala)
c.16C>G (p.Pro6Ala)
 ClinVar gnomAD v4
22g.19764988C>TCA410683282TBX1c.268C>T (p.Pro90Ser)
c.742C>T (p.Pro248Ser)
c.715C>T (p.Pro239Ser)
c.865C>T (p.Pro289Ser)
c.16C>T (p.Pro6Ser)
22g.19764991delCA645609783TBX1c.271del (p.Arg91AlafsTer?)
c.745del (p.Arg249AlafsTer?)
c.718del (p.Arg240AlafsTer?)
c.868del (p.Arg290AlafsTer?)
c.19del (p.Arg7AlafsTer?)
 COSMIC COSMIC COSMIC
22g.19764989C>ACA410683285TBX1c.269C>A (p.Pro90His)
c.743C>A (p.Pro248His)
c.716C>A (p.Pro239His)
c.866C>A (p.Pro289His)
c.17C>A (p.Pro6His)
22g.19764989C=CA2396031426TBX1c.269C= (p.Pro90=)
c.743C= (p.Pro248=)
c.716C= (p.Pro239=)
c.866C= (p.Pro289=)
c.17C= (p.Pro6=)
22g.19764989C>GCA410683284TBX1c.269C>G (p.Pro90Arg)
c.743C>G (p.Pro248Arg)
c.716C>G (p.Pro239Arg)
c.866C>G (p.Pro289Arg)
c.17C>G (p.Pro6Arg)
22g.19764989C>TCA410683283TBX1c.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
22g.19764990C>ACA513361380TBX1c.270C>A (p.Pro90=)
c.744C>A (p.Pro248=)
c.717C>A (p.Pro239=)
c.867C>A (p.Pro289=)
c.18C>A (p.Pro6=)
22g.19764990C>GCA513361381TBX1c.270C>G (p.Pro90=)
c.744C>G (p.Pro248=)
c.717C>G (p.Pro239=)
c.867C>G (p.Pro289=)
c.18C>G (p.Pro6=)
22g.19764990C>TCA513361382TBX1c.270C>T (p.Pro90=)
c.744C>T (p.Pro248=)
c.717C>T (p.Pro239=)
c.867C>T (p.Pro289=)
c.18C>T (p.Pro6=)
22g.19764991C>ACA410683286TBX1c.271C>A (p.Arg91Ser)
c.745C>A (p.Arg249Ser)
c.718C>A (p.Arg240Ser)
c.868C>A (p.Arg290Ser)
c.19C>A (p.Arg7Ser)
22g.19764991C=CA2396031427TBX1c.271C= (p.Arg91=)
c.745C= (p.Arg249=)
c.718C= (p.Arg240=)
c.868C= (p.Arg290=)
c.19C= (p.Arg7=)
22g.19764991C>GCA410683288TBX1c.271C>G (p.Arg91Gly)
c.745C>G (p.Arg249Gly)
c.718C>G (p.Arg240Gly)
c.868C>G (p.Arg290Gly)
c.19C>G (p.Arg7Gly)
22g.19764991C>TCA410683287TBX1c.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
22g.19764992G>ACA410683289TBX1c.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
22g.19764992G>CCA410683291TBX1c.272G>C (p.Arg91Pro)
c.746G>C (p.Arg249Pro)
c.719G>C (p.Arg240Pro)
c.869G>C (p.Arg290Pro)
c.20G>C (p.Arg7Pro)
22g.19764992G=CA2396031428TBX1c.272G= (p.Arg91=)
c.746G= (p.Arg249=)
c.719G= (p.Arg240=)
c.869G= (p.Arg290=)
c.20G= (p.Arg7=)
22g.19764992G>TCA410683290TBX1c.272G>T (p.Arg91Leu)
c.746G>T (p.Arg249Leu)
c.719G>T (p.Arg240Leu)
c.869G>T (p.Arg290Leu)
c.20G>T (p.Arg7Leu)
22g.19764993C>ACA513361383TBX1c.273C>A (p.Arg91=)
c.747C>A (p.Arg249=)
c.720C>A (p.Arg240=)
c.870C>A (p.Arg290=)
c.21C>A (p.Arg7=)
22g.19764993C>GCA513361384TBX1c.273C>G (p.Arg91=)
c.747C>G (p.Arg249=)
c.720C>G (p.Arg240=)
c.870C>G (p.Arg290=)
c.21C>G (p.Arg7=)
22g.19764993C>TCA513361385TBX1c.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
22g.19764994T>ACA410683292TBX1c.274T>A (p.Phe92Ile)
c.748T>A (p.Phe250Ile)
c.721T>A (p.Phe241Ile)
c.871T>A (p.Phe291Ile)
c.22T>A (p.Phe8Ile)
22g.19764994T>CCA410683294TBX1c.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
22g.19764994T>GCA410683293TBX1c.274T>G (p.Phe92Val)
c.748T>G (p.Phe250Val)
c.721T>G (p.Phe241Val)
c.871T>G (p.Phe291Val)
c.22T>G (p.Phe8Val)
22g.19764995T>ACA410683295TBX1c.275T>A (p.Phe92Tyr)
c.749T>A (p.Phe250Tyr)
c.722T>A (p.Phe241Tyr)
c.872T>A (p.Phe291Tyr)
c.23T>A (p.Phe8Tyr)
22g.19764995T>CCA410683297TBX1c.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
22g.19764995T>GCA410683296TBX1c.275T>G (p.Phe92Cys)
c.749T>G (p.Phe250Cys)
c.722T>G (p.Phe241Cys)
c.872T>G (p.Phe291Cys)
c.23T>G (p.Phe8Cys)
22g.19764996C>ACA410683298TBX1c.276C>A (p.Phe92Leu)
c.750C>A (p.Phe250Leu)
c.723C>A (p.Phe241Leu)
c.873C>A (p.Phe291Leu)
c.24C>A (p.Phe8Leu)
22g.19764996C=CA2396031429TBX1c.276C= (p.Phe92=)
c.750C= (p.Phe250=)
c.723C= (p.Phe241=)
c.873C= (p.Phe291=)
c.24C= (p.Phe8=)
22g.19764996C>GCA410683299TBX1c.276C>G (p.Phe92Leu)
c.750C>G (p.Phe250Leu)
c.723C>G (p.Phe241Leu)
c.873C>G (p.Phe291Leu)
c.24C>G (p.Phe8Leu)
22g.19764996C>TCA513361386TBX1c.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
22g.19764997C>ACA410683300TBX1c.277C>A (p.His93Asn)
c.751C>A (p.His251Asn)
c.724C>A (p.His242Asn)
c.874C>A (p.His292Asn)
c.25C>A (p.His9Asn)
22g.19764997C>GCA410683301TBX1c.277C>G (p.His93Asp)
c.751C>G (p.His251Asp)
c.724C>G (p.His242Asp)
c.874C>G (p.His292Asp)
c.25C>G (p.His9Asp)
22g.19764997C>TCA410683302TBX1c.277C>T (p.His93Tyr)
c.751C>T (p.His251Tyr)
c.724C>T (p.His242Tyr)
c.874C>T (p.His292Tyr)
c.25C>T (p.His9Tyr)
22g.19764998A>CCA410683303TBX1c.278A>C (p.His93Pro)
c.752A>C (p.His251Pro)
c.725A>C (p.His242Pro)
c.875A>C (p.His292Pro)
c.26A>C (p.His9Pro)
22g.19764998A>GCA410683304TBX1c.278A>G (p.His93Arg)
c.752A>G (p.His251Arg)
c.725A>G (p.His242Arg)
c.875A>G (p.His292Arg)
c.26A>G (p.His9Arg)
22g.19764998A>TCA410683305TBX1c.278A>T (p.His93Leu)
c.752A>T (p.His251Leu)
c.725A>T (p.His242Leu)
c.875A>T (p.His292Leu)
c.26A>T (p.His9Leu)
22g.19764999C>ACA410683306TBX1c.279C>A (p.His93Gln)
c.753C>A (p.His251Gln)
c.726C>A (p.His242Gln)
c.876C>A (p.His292Gln)
c.27C>A (p.His9Gln)
22g.19764999C=CA2396031430TBX1c.279C= (p.His93=)
c.753C= (p.His251=)
c.726C= (p.His242=)
c.876C= (p.His292=)
c.27C= (p.His9=)
22g.19764999C>GCA410683307TBX1c.279C>G (p.His93Gln)
c.753C>G (p.His251Gln)
c.726C>G (p.His242Gln)
c.876C>G (p.His292Gln)
c.27C>G (p.His9Gln)
22g.19764999C>TCA10102552TBX1c.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
22g.19765000G>ACA410683308TBX1c.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
22g.19765000G>CCA410683309TBX1c.280G>C (p.Val94Leu)
c.754G>C (p.Val252Leu)
c.727G>C (p.Val243Leu)
c.877G>C (p.Val293Leu)
c.28G>C (p.Val10Leu)
22g.19765000G>TCA410683310TBX1c.280G>T (p.Val94Leu)
c.754G>T (p.Val252Leu)
c.727G>T (p.Val243Leu)
c.877G>T (p.Val293Leu)
c.28G>T (p.Val10Leu)
22g.19765001T>ACA410683311TBX1c.281T>A (p.Val94Glu)
c.755T>A (p.Val252Glu)
c.728T>A (p.Val243Glu)
c.878T>A (p.Val293Glu)
c.29T>A (p.Val10Glu)
22g.19765001T>CCA410683313TBX1c.281T>C (p.Val94Ala)
c.755T>C (p.Val252Ala)
c.728T>C (p.Val243Ala)
c.878T>C (p.Val293Ala)
c.29T>C (p.Val10Ala)
22g.19765001T>GCA410683312TBX1c.281T>G (p.Val94Gly)
c.755T>G (p.Val252Gly)
c.728T>G (p.Val243Gly)
c.878T>G (p.Val293Gly)
c.29T>G (p.Val10Gly)
22g.19765002G>ACA513361387TBX1c.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
22g.19765002G>CCA513361388TBX1c.282G>C (p.Val94=)
c.756G>C (p.Val252=)
c.729G>C (p.Val243=)
c.879G>C (p.Val293=)
c.30G>C (p.Val10=)
22g.19765002G>TCA513361389TBX1c.282G>T (p.Val94=)
c.756G>T (p.Val252=)
c.729G>T (p.Val243=)
c.879G>T (p.Val293=)
c.30G>T (p.Val10=)
22g.19765003G>ACA410683314TBX1c.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
22g.19765003G>CCA410683315TBX1c.283G>C (p.Val95Leu)
c.757G>C (p.Val253Leu)
c.730G>C (p.Val244Leu)
c.880G>C (p.Val294Leu)
c.31G>C (p.Val11Leu)
22g.19765003G>TCA410683316TBX1c.283G>T (p.Val95Phe)
c.757G>T (p.Val253Phe)
c.730G>T (p.Val244Phe)
c.880G>T (p.Val294Phe)
c.31G>T (p.Val11Phe)
22g.19765004T>ACA410683317TBX1c.284T>A (p.Val95Asp)
c.758T>A (p.Val253Asp)
c.731T>A (p.Val244Asp)
c.881T>A (p.Val294Asp)
c.32T>A (p.Val11Asp)
22g.19765004T>CCA410683318TBX1c.284T>C (p.Val95Ala)
c.758T>C (p.Val253Ala)
c.731T>C (p.Val244Ala)
c.881T>C (p.Val294Ala)
c.32T>C (p.Val11Ala)
22g.19765004T>GCA410683319TBX1c.284T>G (p.Val95Gly)
c.758T>G (p.Val253Gly)
c.731T>G (p.Val244Gly)
c.881T>G (p.Val294Gly)
c.32T>G (p.Val11Gly)
22g.19765005C>ACA513361390TBX1c.285C>A (p.Val95=)
c.759C>A (p.Val253=)
c.732C>A (p.Val244=)
c.882C>A (p.Val294=)
c.33C>A (p.Val11=)
22g.19765005C=CA2396031431TBX1c.285C= (p.Val95=)
c.759C= (p.Val253=)
c.732C= (p.Val244=)
c.882C= (p.Val294=)
c.33C= (p.Val11=)
22g.19765005C>GCA513361391TBX1c.285C>G (p.Val95=)
c.759C>G (p.Val253=)
c.732C>G (p.Val244=)
c.882C>G (p.Val294=)
c.33C>G (p.Val11=)
22g.19765005C>TCA513361392TBX1c.285C>T (p.Val95=)
c.759C>T (p.Val253=)
c.732C>T (p.Val244=)
c.882C>T (p.Val294=)
c.33C>T (p.Val11=)
 dbSNP gnomAD v4
22g.19765006T>ACA410683320TBX1c.286T>A (p.Tyr96Asn)
c.760T>A (p.Tyr254Asn)
c.733T>A (p.Tyr245Asn)
c.883T>A (p.Tyr295Asn)
c.34T>A (p.Tyr12Asn)
22g.19765006T>CCA410683321TBX1c.286T>C (p.Tyr96His)
c.760T>C (p.Tyr254His)
c.733T>C (p.Tyr245His)
c.883T>C (p.Tyr295His)
c.34T>C (p.Tyr12His)
22g.19765006T>GCA410683322TBX1c.286T>G (p.Tyr96Asp)
c.760T>G (p.Tyr254Asp)
c.733T>G (p.Tyr245Asp)
c.883T>G (p.Tyr295Asp)
c.34T>G (p.Tyr12Asp)
22g.19765007A=CA2396031432TBX1c.287A= (p.Tyr96=)
c.761A= (p.Tyr254=)
c.734A= (p.Tyr245=)
c.884A= (p.Tyr295=)
c.35A= (p.Tyr12=)
22g.19765007A>CCA10102553TBX1c.287A>C (p.Tyr96Ser)
c.761A>C (p.Tyr254Ser)
c.734A>C (p.Tyr245Ser)
c.884A>C (p.Tyr295Ser)
c.35A>C (p.Tyr12Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19765007A>GCA410683324TBX1c.287A>G (p.Tyr96Cys)
c.761A>G (p.Tyr254Cys)
c.734A>G (p.Tyr245Cys)
c.884A>G (p.Tyr295Cys)
c.35A>G (p.Tyr12Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.19765007A>TCA410683323TBX1c.287A>T (p.Tyr96Phe)
c.761A>T (p.Tyr254Phe)
c.734A>T (p.Tyr245Phe)
c.884A>T (p.Tyr295Phe)
c.35A>T (p.Tyr12Phe)
 gnomAD v4
22g.19765008T>ACA410683325TBX1c.288T>A (p.Tyr96Ter)
c.762T>A (p.Tyr254Ter)
c.735T>A (p.Tyr245Ter)
c.885T>A (p.Tyr295Ter)
c.36T>A (p.Tyr12Ter)
22g.19765008T>CCA513361393TBX1c.288T>C (p.Tyr96=)
c.762T>C (p.Tyr254=)
c.735T>C (p.Tyr245=)
c.885T>C (p.Tyr295=)
c.36T>C (p.Tyr12=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.19765008T>GCA410683326TBX1c.288T>G (p.Tyr96Ter)
c.762T>G (p.Tyr254Ter)
c.735T>G (p.Tyr245Ter)
c.885T>G (p.Tyr295Ter)
c.36T>G (p.Tyr12Ter)
22g.19765008T=CA2396031433TBX1c.288T= (p.Tyr96=)
c.762T= (p.Tyr254=)
c.735T= (p.Tyr245=)
c.885T= (p.Tyr295=)
c.36T= (p.Tyr12=)
22g.19765009G>ACA410683327TBX1c.289G>A (p.Val97Met)
c.763G>A (p.Val255Met)
c.736G>A (p.Val246Met)
c.886G>A (p.Val296Met)
c.37G>A (p.Val13Met)
 dbSNP gnomAD v4
22g.19765009G>CCA410683328TBX1c.289G>C (p.Val97Leu)
c.763G>C (p.Val255Leu)
c.736G>C (p.Val246Leu)
c.886G>C (p.Val296Leu)
c.37G>C (p.Val13Leu)
22g.19765009G=CA2396031434TBX1c.289G= (p.Val97=)
c.763G= (p.Val255=)
c.736G= (p.Val246=)
c.886G= (p.Val296=)
c.37G= (p.Val13=)
22g.19765009G>TCA410683329TBX1c.289G>T (p.Val97Leu)
c.763G>T (p.Val255Leu)
c.736G>T (p.Val246Leu)
c.886G>T (p.Val296Leu)
c.37G>T (p.Val13Leu)
22g.19765010T>ACA410683330TBX1c.290T>A (p.Val97Glu)
c.764T>A (p.Val255Glu)
c.737T>A (p.Val246Glu)
c.887T>A (p.Val296Glu)
c.38T>A (p.Val13Glu)
22g.19765010T>CCA410683331TBX1c.290T>C (p.Val97Ala)
c.764T>C (p.Val255Ala)
c.737T>C (p.Val246Ala)
c.887T>C (p.Val296Ala)
c.38T>C (p.Val13Ala)
22g.19765010T>GCA410683332TBX1c.290T>G (p.Val97Gly)
c.764T>G (p.Val255Gly)
c.737T>G (p.Val246Gly)
c.887T>G (p.Val296Gly)
c.38T>G (p.Val13Gly)
22g.19765011G>ACA513361394TBX1c.291G>A (p.Val97=)
c.765G>A (p.Val255=)
c.738G>A (p.Val246=)
c.888G>A (p.Val296=)
c.39G>A (p.Val13=)
22g.19765011G>CCA513361395TBX1c.291G>C (p.Val97=)
c.765G>C (p.Val255=)
c.738G>C (p.Val246=)
c.888G>C (p.Val296=)
c.39G>C (p.Val13=)
22g.19765011G>TCA513361396TBX1c.291G>T (p.Val97=)
c.765G>T (p.Val255=)
c.738G>T (p.Val246=)
c.888G>T (p.Val296=)
c.39G>T (p.Val13=)
22g.19765012G>ACA410683333TBX1c.292G>A (p.Asp98Asn)
c.766G>A (p.Asp256Asn)
c.739G>A (p.Asp247Asn)
c.889G>A (p.Asp297Asn)
c.40G>A (p.Asp14Asn)
22g.19765012G>CCA410683334TBX1c.292G>C (p.Asp98His)
c.766G>C (p.Asp256His)
c.739G>C (p.Asp247His)
c.889G>C (p.Asp297His)
c.40G>C (p.Asp14His)
22g.19765012G>TCA410683335TBX1c.292G>T (p.Asp98Tyr)
c.766G>T (p.Asp256Tyr)
c.739G>T (p.Asp247Tyr)
c.889G>T (p.Asp297Tyr)
c.40G>T (p.Asp14Tyr)
22g.19765013A>CCA410683338TBX1c.293A>C (p.Asp98Ala)
c.767A>C (p.Asp256Ala)
c.740A>C (p.Asp247Ala)
c.890A>C (p.Asp297Ala)
c.41A>C (p.Asp14Ala)
22g.19765013A>GCA410683336TBX1c.293A>G (p.Asp98Gly)
c.767A>G (p.Asp256Gly)
c.740A>G (p.Asp247Gly)
c.890A>G (p.Asp297Gly)
c.41A>G (p.Asp14Gly)
22g.19765013A>TCA410683337TBX1c.293A>T (p.Asp98Val)
c.767A>T (p.Asp256Val)
c.740A>T (p.Asp247Val)
c.890A>T (p.Asp297Val)
c.41A>T (p.Asp14Val)
22g.19765014C>ACA410683339TBX1c.294C>A (p.Asp98Glu)
c.768C>A (p.Asp256Glu)
c.741C>A (p.Asp247Glu)
c.891C>A (p.Asp297Glu)
c.42C>A (p.Asp14Glu)
22g.19765014C=CA2396031435TBX1c.294C= (p.Asp98=)
c.768C= (p.Asp256=)
c.741C= (p.Asp247=)
c.891C= (p.Asp297=)
c.42C= (p.Asp14=)
22g.19765014C>GCA410683340TBX1c.294C>G (p.Asp98Glu)
c.768C>G (p.Asp256Glu)
c.741C>G (p.Asp247Glu)
c.891C>G (p.Asp297Glu)
c.42C>G (p.Asp14Glu)
22g.19765014C>TCA513361397TBX1c.294C>T (p.Asp98=)
c.768C>T (p.Asp256=)
c.741C>T (p.Asp247=)
c.891C>T (p.Asp297=)
c.42C>T (p.Asp14=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.19765015C>ACA410683341TBX1c.295C>A (p.Pro99Thr)
c.769C>A (p.Pro257Thr)
c.742C>A (p.Pro248Thr)
c.892C>A (p.Pro298Thr)
c.43C>A (p.Pro15Thr)
22g.19765015C=CA2396031436TBX1c.295C= (p.Pro99=)
c.769C= (p.Pro257=)
c.742C= (p.Pro248=)
c.892C= (p.Pro298=)
c.43C= (p.Pro15=)
22g.19765015C>GCA410683342TBX1c.295C>G (p.Pro99Ala)
c.769C>G (p.Pro257Ala)
c.742C>G (p.Pro248Ala)
c.892C>G (p.Pro298Ala)
c.43C>G (p.Pro15Ala)
22g.19765015C>TCA410683343TBX1c.295C>T (p.Pro99Ser)
c.769C>T (p.Pro257Ser)
c.742C>T (p.Pro248Ser)
c.892C>T (p.Pro298Ser)
c.43C>T (p.Pro15Ser)
 dbSNP gnomAD v2 gnomAD v4
22g.19765016C>ACA410683344TBX1c.296C>A (p.Pro99Gln)
c.770C>A (p.Pro257Gln)
c.743C>A (p.Pro248Gln)
c.893C>A (p.Pro298Gln)
c.44C>A (p.Pro15Gln)
22g.19765016C>GCA410683345TBX1c.296C>G (p.Pro99Arg)
c.770C>G (p.Pro257Arg)
c.743C>G (p.Pro248Arg)
c.893C>G (p.Pro298Arg)
c.44C>G (p.Pro15Arg)
22g.19765016C>TCA410683346TBX1c.296C>T (p.Pro99Leu)
c.770C>T (p.Pro257Leu)
c.743C>T (p.Pro248Leu)
c.893C>T (p.Pro298Leu)
c.44C>T (p.Pro15Leu)
22g.19765017A>CCA513361398TBX1c.297A>C (p.Pro99=)
c.771A>C (p.Pro257=)
c.744A>C (p.Pro248=)
c.894A>C (p.Pro298=)
c.45A>C (p.Pro15=)
22g.19765017A>GCA513361399TBX1c.297A>G (p.Pro99=)
c.771A>G (p.Pro257=)
c.744A>G (p.Pro248=)
c.894A>G (p.Pro298=)
c.45A>G (p.Pro15=)
22g.19765017A>TCA513361400TBX1c.297A>T (p.Pro99=)
c.771A>T (p.Pro257=)
c.744A>T (p.Pro248=)
c.894A>T (p.Pro298=)
c.45A>T (p.Pro15=)
22g.19765018C>ACA410683347TBX1c.298C>A (p.Arg100Ser)
c.772C>A (p.Arg258Ser)
c.745C>A (p.Arg249Ser)
c.895C>A (p.Arg299Ser)
c.46C>A (p.Arg16Ser)
 dbSNP gnomAD v2 gnomAD v4
22g.19765018C=CA2396031437TBX1c.298C= (p.Arg100=)
c.772C= (p.Arg258=)
c.745C= (p.Arg249=)
c.895C= (p.Arg299=)
c.46C= (p.Arg16=)
22g.19765018C>GCA410683348TBX1c.298C>G (p.Arg100Gly)
c.772C>G (p.Arg258Gly)
c.745C>G (p.Arg249Gly)
c.895C>G (p.Arg299Gly)
c.46C>G (p.Arg16Gly)
22g.19765018C>TCA410683349TBX1c.298C>T (p.Arg100Cys)
c.772C>T (p.Arg258Cys)
c.745C>T (p.Arg249Cys)
c.895C>T (p.Arg299Cys)
c.46C>T (p.Arg16Cys)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
22g.19765019G>ACA410683351TBX1c.299G>A (p.Arg100His)
c.773G>A (p.Arg258His)
c.746G>A (p.Arg249His)
c.896G>A (p.Arg299His)
c.47G>A (p.Arg16His)
22g.19765019G>CCA410683352TBX1c.299G>C (p.Arg100Pro)
c.773G>C (p.Arg258Pro)
c.746G>C (p.Arg249Pro)
c.896G>C (p.Arg299Pro)
c.47G>C (p.Arg16Pro)
22g.19765019G>TCA410683350TBX1c.299G>T (p.Arg100Leu)
c.773G>T (p.Arg258Leu)
c.746G>T (p.Arg249Leu)
c.896G>T (p.Arg299Leu)
c.47G>T (p.Arg16Leu)
 COSMIC COSMIC COSMIC
22g.19765020C>ACA513361401TBX1c.300C>A (p.Arg100=)
c.774C>A (p.Arg258=)
c.747C>A (p.Arg249=)
c.897C>A (p.Arg299=)
c.48C>A (p.Arg16=)
22g.19765020C=CA2396031438TBX1c.300C= (p.Arg100=)
c.774C= (p.Arg258=)
c.747C= (p.Arg249=)
c.897C= (p.Arg299=)
c.48C= (p.Arg16=)
22g.19765020C>GCA513361402TBX1c.300C>G (p.Arg100=)
c.774C>G (p.Arg258=)
c.747C>G (p.Arg249=)
c.897C>G (p.Arg299=)
c.48C>G (p.Arg16=)
22g.19765020C>TCA10102554TBX1c.300C>T (p.Arg100=)
c.774C>T (p.Arg258=)
c.747C>T (p.Arg249=)
c.897C>T (p.Arg299=)
c.48C>T (p.Arg16=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19765021A>CCA410683353TBX1c.301A>C (p.Lys101Gln)
c.775A>C (p.Lys259Gln)
c.748A>C (p.Lys250Gln)
c.898A>C (p.Lys300Gln)
c.49A>C (p.Lys17Gln)
22g.19765021A>GCA410683354TBX1c.301A>G (p.Lys101Glu)
c.775A>G (p.Lys259Glu)
c.748A>G (p.Lys250Glu)
c.898A>G (p.Lys300Glu)
c.49A>G (p.Lys17Glu)
22g.19765021A>TCA410683355TBX1c.301A>T (p.Lys101Ter)
c.775A>T (p.Lys259Ter)
c.748A>T (p.Lys250Ter)
c.898A>T (p.Lys300Ter)
c.49A>T (p.Lys17Ter)
22g.19765022A>CCA410683356TBX1c.302A>C (p.Lys101Thr)
c.776A>C (p.Lys259Thr)
c.749A>C (p.Lys250Thr)
c.899A>C (p.Lys300Thr)
c.50A>C (p.Lys17Thr)
22g.19765022A>GCA410683357TBX1c.302A>G (p.Lys101Arg)
c.776A>G (p.Lys259Arg)
c.749A>G (p.Lys250Arg)
c.899A>G (p.Lys300Arg)
c.50A>G (p.Lys17Arg)
22g.19765022A>TCA410683358TBX1c.302A>T (p.Lys101Ile)
c.776A>T (p.Lys259Ile)
c.749A>T (p.Lys250Ile)
c.899A>T (p.Lys300Ile)
c.50A>T (p.Lys17Ile)
22g.19765023A>CCA410683359TBX1c.303A>C (p.Lys101Asn)
c.777A>C (p.Lys259Asn)
c.750A>C (p.Lys250Asn)
c.900A>C (p.Lys300Asn)
c.51A>C (p.Lys17Asn)
22g.19765023A>GCA513361403TBX1c.303A>G (p.Lys101=)
c.777A>G (p.Lys259=)
c.750A>G (p.Lys250=)
c.900A>G (p.Lys300=)
c.51A>G (p.Lys17=)
22g.19765023A>TCA410683360TBX1c.303A>T (p.Lys101Asn)
c.777A>T (p.Lys259Asn)
c.750A>T (p.Lys250Asn)
c.900A>T (p.Lys300Asn)
c.51A>T (p.Lys17Asn)
22g.19765024G>ACA410683361TBX1c.304G>A (p.Asp102Asn)
c.778G>A (p.Asp260Asn)
c.751G>A (p.Asp251Asn)
c.901G>A (p.Asp301Asn)
c.52G>A (p.Asp18Asn)
22g.19765024G>CCA410683362TBX1c.304G>C (p.Asp102His)
c.778G>C (p.Asp260His)
c.751G>C (p.Asp251His)
c.901G>C (p.Asp301His)
c.52G>C (p.Asp18His)
 gnomAD v4
22g.19765024G>TCA410683363TBX1c.304G>T (p.Asp102Tyr)
c.778G>T (p.Asp260Tyr)
c.751G>T (p.Asp251Tyr)
c.901G>T (p.Asp301Tyr)
c.52G>T (p.Asp18Tyr)
22g.19765025A=CA2396031439TBX1c.305A= (p.Asp102=)
c.779A= (p.Asp260=)
c.752A= (p.Asp251=)
c.902A= (p.Asp301=)
c.53A= (p.Asp18=)
22g.19765025A>CCA410683364TBX1c.305A>C (p.Asp102Ala)
c.779A>C (p.Asp260Ala)
c.752A>C (p.Asp251Ala)
c.902A>C (p.Asp301Ala)
c.53A>C (p.Asp18Ala)
22g.19765025A>GCA10102555TBX1c.305A>G (p.Asp102Gly)
c.779A>G (p.Asp260Gly)
c.752A>G (p.Asp251Gly)
c.902A>G (p.Asp301Gly)
c.53A>G (p.Asp18Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19765025A>TCA410683365TBX1c.305A>T (p.Asp102Val)
c.779A>T (p.Asp260Val)
c.752A>T (p.Asp251Val)
c.902A>T (p.Asp301Val)
c.53A>T (p.Asp18Val)
22g.19765026T>ACA410683366TBX1c.306T>A (p.Asp102Glu)
c.780T>A (p.Asp260Glu)
c.753T>A (p.Asp251Glu)
c.903T>A (p.Asp301Glu)
c.54T>A (p.Asp18Glu)
22g.19765026T>CCA513361404TBX1c.306T>C (p.Asp102=)
c.780T>C (p.Asp260=)
c.753T>C (p.Asp251=)
c.903T>C (p.Asp301=)
c.54T>C (p.Asp18=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.19765026T>GCA410683367TBX1c.306T>G (p.Asp102Glu)
c.780T>G (p.Asp260Glu)
c.753T>G (p.Asp251Glu)
c.903T>G (p.Asp301Glu)
c.54T>G (p.Asp18Glu)
22g.19765026T=CA2396031440TBX1c.306T= (p.Asp102=)
c.780T= (p.Asp260=)
c.753T= (p.Asp251=)
c.903T= (p.Asp301=)
c.54T= (p.Asp18=)
22g.19765027A>CCA410683368TBX1c.307A>C (p.Ser103Arg)
c.781A>C (p.Ser261Arg)
c.754A>C (p.Ser252Arg)
c.904A>C (p.Ser302Arg)
c.55A>C (p.Ser19Arg)
22g.19765027A>GCA410683369TBX1c.307A>G (p.Ser103Gly)
c.781A>G (p.Ser261Gly)
c.754A>G (p.Ser252Gly)
c.904A>G (p.Ser302Gly)
c.55A>G (p.Ser19Gly)
 ClinVar dbSNP
22g.19765027A>TCA410683370TBX1c.307A>T (p.Ser103Cys)
c.781A>T (p.Ser261Cys)
c.754A>T (p.Ser252Cys)
c.904A>T (p.Ser302Cys)
c.55A>T (p.Ser19Cys)
22g.19765028G>ACA410683371TBX1c.308G>A (p.Ser103Asn)
c.782G>A (p.Ser261Asn)
c.755G>A (p.Ser252Asn)
c.905G>A (p.Ser302Asn)
c.56G>A (p.Ser19Asn)
22g.19765028G>CCA410683372TBX1c.308G>C (p.Ser103Thr)
c.782G>C (p.Ser261Thr)
c.755G>C (p.Ser252Thr)
c.905G>C (p.Ser302Thr)
c.56G>C (p.Ser19Thr)
22g.19765028G>TCA410683373TBX1c.308G>T (p.Ser103Ile)
c.782G>T (p.Ser261Ile)
c.755G>T (p.Ser252Ile)
c.905G>T (p.Ser302Ile)
c.56G>T (p.Ser19Ile)
22g.19765029C>ACA410683374TBX1c.309C>A (p.Ser103Arg)
c.783C>A (p.Ser261Arg)
c.756C>A (p.Ser252Arg)
c.906C>A (p.Ser302Arg)
c.57C>A (p.Ser19Arg)
22g.19765029C=CA2396031441TBX1c.309C= (p.Ser103=)
c.783C= (p.Ser261=)
c.756C= (p.Ser252=)
c.906C= (p.Ser302=)
c.57C= (p.Ser19=)
22g.19765029C>GCA410683375TBX1c.309C>G (p.Ser103Arg)
c.783C>G (p.Ser261Arg)
c.756C>G (p.Ser252Arg)
c.906C>G (p.Ser302Arg)
c.57C>G (p.Ser19Arg)
22g.19765029C>TCA513361405TBX1c.309C>T (p.Ser103=)
c.783C>T (p.Ser261=)
c.756C>T (p.Ser252=)
c.906C>T (p.Ser302=)
c.57C>T (p.Ser19=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19765030G>ACA410683376TBX1c.310G>A (p.Glu104Lys)
c.784G>A (p.Glu262Lys)
c.757G>A (p.Glu253Lys)
c.907G>A (p.Glu303Lys)
c.58G>A (p.Glu20Lys)
22g.19765030G>CCA10102556TBX1c.310G>C (p.Glu104Gln)
c.784G>C (p.Glu262Gln)
c.757G>C (p.Glu253Gln)
c.907G>C (p.Glu303Gln)
c.58G>C (p.Glu20Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19765030G=CA2396031442TBX1c.310G= (p.Glu104=)
c.784G= (p.Glu262=)
c.757G= (p.Glu253=)
c.907G= (p.Glu303=)
c.58G= (p.Glu20=)
22g.19765030G>TCA410683377TBX1c.310G>T (p.Glu104Ter)
c.784G>T (p.Glu262Ter)
c.757G>T (p.Glu253Ter)
c.907G>T (p.Glu303Ter)
c.58G>T (p.Glu20Ter)
22g.19765031A=CA2396031443TBX1c.311A= (p.Glu104=)
c.785A= (p.Glu262=)
c.758A= (p.Glu253=)
c.908A= (p.Glu303=)
c.59A= (p.Glu20=)
22g.19765031A>CCA410683380TBX1c.311A>C (p.Glu104Ala)
c.785A>C (p.Glu262Ala)
c.758A>C (p.Glu253Ala)
c.908A>C (p.Glu303Ala)
c.59A>C (p.Glu20Ala)
 dbSNP
22g.19765031A>GCA410683379TBX1c.311A>G (p.Glu104Gly)
c.785A>G (p.Glu262Gly)
c.758A>G (p.Glu253Gly)
c.908A>G (p.Glu303Gly)
c.59A>G (p.Glu20Gly)
22g.19765031A>TCA410683378TBX1c.311A>T (p.Glu104Val)
c.785A>T (p.Glu262Val)
c.758A>T (p.Glu253Val)
c.908A>T (p.Glu303Val)
c.59A>T (p.Glu20Val)
22g.19765032G>ACA513361406TBX1c.312G>A (p.Glu104=)
c.786G>A (p.Glu262=)
c.759G>A (p.Glu253=)
c.909G>A (p.Glu303=)
c.60G>A (p.Glu20=)
22g.19765032G>CCA410683381TBX1c.312G>C (p.Glu104Asp)
c.786G>C (p.Glu262Asp)
c.759G>C (p.Glu253Asp)
c.909G>C (p.Glu303Asp)
c.60G>C (p.Glu20Asp)
22g.19765032G>TCA410683382TBX1c.312G>T (p.Glu104Asp)
c.786G>T (p.Glu262Asp)
c.759G>T (p.Glu253Asp)
c.909G>T (p.Glu303Asp)
c.60G>T (p.Glu20Asp)
22g.19765033A>CCA410683383TBX1c.313A>C (p.Lys105Gln)
c.787A>C (p.Lys263Gln)
c.760A>C (p.Lys254Gln)
c.910A>C (p.Lys304Gln)
c.61A>C (p.Lys21Gln)
22g.19765033A>GCA410683384TBX1c.313A>G (p.Lys105Glu)
c.787A>G (p.Lys263Glu)
c.760A>G (p.Lys254Glu)
c.910A>G (p.Lys304Glu)
c.61A>G (p.Lys21Glu)
22g.19765033A>TCA410683385TBX1c.313A>T (p.Lys105Ter)
c.787A>T (p.Lys263Ter)
c.760A>T (p.Lys254Ter)
c.910A>T (p.Lys304Ter)
c.61A>T (p.Lys21Ter)
22g.19765034A>CCA410683386TBX1c.314A>C (p.Lys105Thr)
c.788A>C (p.Lys263Thr)
c.761A>C (p.Lys254Thr)
c.911A>C (p.Lys304Thr)
c.62A>C (p.Lys21Thr)
22g.19765034A>GCA410683387TBX1c.314A>G (p.Lys105Arg)
c.788A>G (p.Lys263Arg)
c.761A>G (p.Lys254Arg)
c.911A>G (p.Lys304Arg)
c.62A>G (p.Lys21Arg)
22g.19765034A>TCA410683388TBX1c.314A>T (p.Lys105Ile)
c.788A>T (p.Lys263Ile)
c.761A>T (p.Lys254Ile)
c.911A>T (p.Lys304Ile)
c.62A>T (p.Lys21Ile)
22g.19765035A=CA2396031444TBX1c.315A= (p.Lys105=)
c.789A= (p.Lys263=)
c.762A= (p.Lys254=)
c.912A= (p.Lys304=)
c.63A= (p.Lys21=)
22g.19765035A>CCA410683389TBX1c.315A>C (p.Lys105Asn)
c.789A>C (p.Lys263Asn)
c.762A>C (p.Lys254Asn)
c.912A>C (p.Lys304Asn)
c.63A>C (p.Lys21Asn)
22g.19765035A>GCA513361407TBX1c.315A>G (p.Lys105=)
c.789A>G (p.Lys263=)
c.762A>G (p.Lys254=)
c.912A>G (p.Lys304=)
c.63A>G (p.Lys21=)
 dbSNP gnomAD v2
22g.19765035A>TCA410683390TBX1c.315A>T (p.Lys105Asn)
c.789A>T (p.Lys263Asn)
c.762A>T (p.Lys254Asn)
c.912A>T (p.Lys304Asn)
c.63A>T (p.Lys21Asn)
22g.19765036T>ACA410683391TBX1c.316T>A (p.Tyr106Asn)
c.790T>A (p.Tyr264Asn)
c.763T>A (p.Tyr255Asn)
c.913T>A (p.Tyr305Asn)
c.64T>A (p.Tyr22Asn)
22g.19765036T>CCA410683392TBX1c.316T>C (p.Tyr106His)
c.790T>C (p.Tyr264His)
c.763T>C (p.Tyr255His)
c.913T>C (p.Tyr305His)
c.64T>C (p.Tyr22His)
22g.19765036T>GCA410683393TBX1c.316T>G (p.Tyr106Asp)
c.790T>G (p.Tyr264Asp)
c.763T>G (p.Tyr255Asp)
c.913T>G (p.Tyr305Asp)
c.64T>G (p.Tyr22Asp)
22g.19765037A>CCA410683396TBX1c.317A>C (p.Tyr106Ser)
c.791A>C (p.Tyr264Ser)
c.764A>C (p.Tyr255Ser)
c.914A>C (p.Tyr305Ser)
c.65A>C (p.Tyr22Ser)
22g.19765037A>GCA410683394TBX1c.317A>G (p.Tyr106Cys)
c.791A>G (p.Tyr264Cys)
c.764A>G (p.Tyr255Cys)
c.914A>G (p.Tyr305Cys)
c.65A>G (p.Tyr22Cys)
22g.19765037A>TCA410683395TBX1c.317A>T (p.Tyr106Phe)
c.791A>T (p.Tyr264Phe)
c.764A>T (p.Tyr255Phe)
c.914A>T (p.Tyr305Phe)
c.65A>T (p.Tyr22Phe)
22g.19765038T>ACA410683397TBX1c.318T>A (p.Tyr106Ter)
c.792T>A (p.Tyr264Ter)
c.765T>A (p.Tyr255Ter)
c.915T>A (p.Tyr305Ter)
c.66T>A (p.Tyr22Ter)
22g.19765038T>CCA513361408TBX1c.318T>C (p.Tyr106=)
c.792T>C (p.Tyr264=)
c.765T>C (p.Tyr255=)
c.915T>C (p.Tyr305=)
c.66T>C (p.Tyr22=)
 gnomAD v4
22g.19765038T>GCA410683398TBX1c.318T>G (p.Tyr106Ter)
c.792T>G (p.Tyr264Ter)
c.765T>G (p.Tyr255Ter)
c.915T>G (p.Tyr305Ter)
c.66T>G (p.Tyr22Ter)
22g.19765039G>ACA410683399TBX1c.319G>A (p.Ala107Thr)
c.793G>A (p.Ala265Thr)
c.766G>A (p.Ala256Thr)
c.916G>A (p.Ala306Thr)
c.67G>A (p.Ala23Thr)
22g.19765039G>CCA410683400TBX1c.319G>C (p.Ala107Pro)
c.793G>C (p.Ala265Pro)
c.766G>C (p.Ala256Pro)
c.916G>C (p.Ala306Pro)
c.67G>C (p.Ala23Pro)
22g.19765039G>TCA410683401TBX1c.319G>T (p.Ala107Ser)
c.793G>T (p.Ala265Ser)
c.766G>T (p.Ala256Ser)
c.916G>T (p.Ala306Ser)
c.67G>T (p.Ala23Ser)
22g.19765040_19765044dupCA2573131766TBX1c.320_324dup (p.Glu109ProfsTer?)
c.794_798dup (p.Glu267ProfsTer?)
c.767_771dup (p.Glu258ProfsTer?)
c.917_921dup (p.Glu308ProfsTer?)
c.68_72dup (p.Glu25ProfsTer26)
 ClinVar dbSNP
22g.19765040C>ACA410683402TBX1c.320C>A (p.Ala107Asp)
c.794C>A (p.Ala265Asp)
c.767C>A (p.Ala256Asp)
c.917C>A (p.Ala306Asp)
c.68C>A (p.Ala23Asp)
22g.19765040C=CA2396031445TBX1c.320C= (p.Ala107=)
c.794C= (p.Ala265=)
c.767C= (p.Ala256=)
c.917C= (p.Ala306=)
c.68C= (p.Ala23=)
22g.19765040C>GCA410683403TBX1c.320C>G (p.Ala107Gly)
c.794C>G (p.Ala265Gly)
c.767C>G (p.Ala256Gly)
c.917C>G (p.Ala306Gly)
c.68C>G (p.Ala23Gly)
22g.19765040C>TCA10102557TBX1c.320C>T (p.Ala107Val)
c.794C>T (p.Ala265Val)
c.767C>T (p.Ala256Val)
c.917C>T (p.Ala306Val)
c.68C>T (p.Ala23Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
22g.19765041C>ACA513361409TBX1c.321C>A (p.Ala107=)
c.795C>A (p.Ala265=)
c.768C>A (p.Ala256=)
c.918C>A (p.Ala306=)
c.69C>A (p.Ala23=)
 gnomAD v4 COSMIC COSMIC COSMIC
22g.19765041C=CA2396031446TBX1c.321C= (p.Ala107=)
c.795C= (p.Ala265=)
c.768C= (p.Ala256=)
c.918C= (p.Ala306=)
c.69C= (p.Ala23=)
22g.19765041C>GCA513361410TBX1c.321C>G (p.Ala107=)
c.795C>G (p.Ala265=)
c.768C>G (p.Ala256=)
c.918C>G (p.Ala306=)
c.69C>G (p.Ala23=)
22g.19765041C>TCA10102558TBX1c.321C>T (p.Ala107=)
c.795C>T (p.Ala265=)
c.768C>T (p.Ala256=)
c.918C>T (p.Ala306=)
c.69C>T (p.Ala23=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22g.19765042G>ACA10102559TBX1c.322G>A (p.Glu108Lys)
c.796G>A (p.Glu266Lys)
c.769G>A (p.Glu257Lys)
c.919G>A (p.Glu307Lys)
c.70G>A (p.Glu24Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19765042G>CCA410683404TBX1c.322G>C (p.Glu108Gln)
c.796G>C (p.Glu266Gln)
c.769G>C (p.Glu257Gln)
c.919G>C (p.Glu307Gln)
c.70G>C (p.Glu24Gln)
22g.19765042G=CA2396031447TBX1c.322G= (p.Glu108=)
c.796G= (p.Glu266=)
c.769G= (p.Glu257=)
c.919G= (p.Glu307=)
c.70G= (p.Glu24=)
22g.19765042G>TCA410683405TBX1c.322G>T (p.Glu108Ter)
c.796G>T (p.Glu266Ter)
c.769G>T (p.Glu257Ter)
c.919G>T (p.Glu307Ter)
c.70G>T (p.Glu24Ter)
22g.19765045_19765047delCA2655309856TBX1c.325_327del (p.Glu109del)
c.799_801del (p.Glu267del)
c.772_774del (p.Glu258del)
c.922_924del (p.Glu308del)
c.73_75del (p.Glu25del)
 gnomAD v4
22g.19765043A>CCA410683407TBX1c.323A>C (p.Glu108Ala)
c.797A>C (p.Glu266Ala)
c.770A>C (p.Glu257Ala)
c.920A>C (p.Glu307Ala)
c.71A>C (p.Glu24Ala)
22g.19765043A>GCA410683408TBX1c.323A>G (p.Glu108Gly)
c.797A>G (p.Glu266Gly)
c.770A>G (p.Glu257Gly)
c.920A>G (p.Glu307Gly)
c.71A>G (p.Glu24Gly)
22g.19765043A>TCA410683406TBX1c.323A>T (p.Glu108Val)
c.797A>T (p.Glu266Val)
c.770A>T (p.Glu257Val)
c.920A>T (p.Glu307Val)
c.71A>T (p.Glu24Val)
22g.19765044G>ACA513361411TBX1c.324G>A (p.Glu108=)
c.798G>A (p.Glu266=)
c.771G>A (p.Glu257=)
c.921G>A (p.Glu307=)
c.72G>A (p.Glu24=)
 ClinVar
22g.19765044G>CCA410683410TBX1c.324G>C (p.Glu108Asp)
c.798G>C (p.Glu266Asp)
c.771G>C (p.Glu257Asp)
c.921G>C (p.Glu307Asp)
c.72G>C (p.Glu24Asp)
22g.19765044G>TCA410683409TBX1c.324G>T (p.Glu108Asp)
c.798G>T (p.Glu266Asp)
c.771G>T (p.Glu257Asp)
c.921G>T (p.Glu307Asp)
c.72G>T (p.Glu24Asp)
 gnomAD v4
22g.19765045G>ACA410683413TBX1c.325G>A (p.Glu109Lys)
c.799G>A (p.Glu267Lys)
c.772G>A (p.Glu258Lys)
c.922G>A (p.Glu308Lys)
c.73G>A (p.Glu25Lys)
22g.19765045G>CCA410683411TBX1c.325G>C (p.Glu109Gln)
c.799G>C (p.Glu267Gln)
c.772G>C (p.Glu258Gln)
c.922G>C (p.Glu308Gln)
c.73G>C (p.Glu25Gln)
22g.19765045G>TCA410683412TBX1c.325G>T (p.Glu109Ter)
c.799G>T (p.Glu267Ter)
c.772G>T (p.Glu258Ter)
c.922G>T (p.Glu308Ter)
c.73G>T (p.Glu25Ter)
22g.19765046A>CCA410683414TBX1c.326A>C (p.Glu109Ala)
c.800A>C (p.Glu267Ala)
c.773A>C (p.Glu258Ala)
c.923A>C (p.Glu308Ala)
c.74A>C (p.Glu25Ala)
22g.19765046A>GCA410683415TBX1c.326A>G (p.Glu109Gly)
c.800A>G (p.Glu267Gly)
c.773A>G (p.Glu258Gly)
c.923A>G (p.Glu308Gly)
c.74A>G (p.Glu25Gly)
 gnomAD v4
22g.19765046A>TCA410683416TBX1c.326A>T (p.Glu109Val)
c.800A>T (p.Glu267Val)
c.773A>T (p.Glu258Val)
c.923A>T (p.Glu308Val)
c.74A>T (p.Glu25Val)
22g.19765047G>ACA513361412TBX1c.327G>A (p.Glu109=)
c.801G>A (p.Glu267=)
c.774G>A (p.Glu258=)
c.924G>A (p.Glu308=)
c.75G>A (p.Glu25=)
22g.19765047G>CCA410683417TBX1c.327G>C (p.Glu109Asp)
c.801G>C (p.Glu267Asp)
c.774G>C (p.Glu258Asp)
c.924G>C (p.Glu308Asp)
c.75G>C (p.Glu25Asp)
22g.19765047G>TCA410683418TBX1c.327G>T (p.Glu109Asp)
c.801G>T (p.Glu267Asp)
c.774G>T (p.Glu258Asp)
c.924G>T (p.Glu308Asp)
c.75G>T (p.Glu25Asp)
 ClinVar
22g.19765048A>CCA410683419TBX1c.328A>C (p.Asn110His)
c.802A>C (p.Asn268His)
c.775A>C (p.Asn259His)
c.925A>C (p.Asn309His)
c.76A>C (p.Asn26His)
22g.19765048A>GCA410683420TBX1c.328A>G (p.Asn110Asp)
c.802A>G (p.Asn268Asp)
c.775A>G (p.Asn259Asp)
c.925A>G (p.Asn309Asp)
c.76A>G (p.Asn26Asp)
22g.19765048A>TCA410683421TBX1c.328A>T (p.Asn110Tyr)
c.802A>T (p.Asn268Tyr)
c.775A>T (p.Asn259Tyr)
c.925A>T (p.Asn309Tyr)
c.76A>T (p.Asn26Tyr)
22g.19765049A>CCA410683422TBX1c.329A>C (p.Asn110Thr)
c.803A>C (p.Asn268Thr)
c.776A>C (p.Asn259Thr)
c.926A>C (p.Asn309Thr)
c.77A>C (p.Asn26Thr)
 COSMIC COSMIC COSMIC
22g.19765049A>GCA410683423TBX1c.329A>G (p.Asn110Ser)
c.803A>G (p.Asn268Ser)
c.776A>G (p.Asn259Ser)
c.926A>G (p.Asn309Ser)
c.77A>G (p.Asn26Ser)
22g.19765049A>TCA410683424TBX1c.329A>T (p.Asn110Ile)
c.803A>T (p.Asn268Ile)
c.776A>T (p.Asn259Ile)
c.926A>T (p.Asn309Ile)
c.77A>T (p.Asn26Ile)
22g.19765050C>ACA410683425TBX1c.330C>A (p.Asn110Lys)
c.804C>A (p.Asn268Lys)
c.777C>A (p.Asn259Lys)
c.927C>A (p.Asn309Lys)
c.78C>A (p.Asn26Lys)
22g.19765050C>GCA410683426TBX1c.330C>G (p.Asn110Lys)
c.804C>G (p.Asn268Lys)
c.777C>G (p.Asn259Lys)
c.927C>G (p.Asn309Lys)
c.78C>G (p.Asn26Lys)
22g.19765050C>TCA513361413TBX1c.330C>T (p.Asn110=)
c.804C>T (p.Asn268=)
c.777C>T (p.Asn259=)
c.927C>T (p.Asn309=)
c.78C>T (p.Asn26=)
22g.19765051T>ACA410683427TBX1c.331T>A (p.Phe111Ile)
c.805T>A (p.Phe269Ile)
c.778T>A (p.Phe260Ile)
c.928T>A (p.Phe310Ile)
c.79T>A (p.Phe27Ile)
22g.19765051T>CCA410683428TBX1c.331T>C (p.Phe111Leu)
c.805T>C (p.Phe269Leu)
c.778T>C (p.Phe260Leu)
c.928T>C (p.Phe310Leu)
c.79T>C (p.Phe27Leu)
22g.19765051T>GCA410683429TBX1c.331T>G (p.Phe111Val)
c.805T>G (p.Phe269Val)
c.778T>G (p.Phe260Val)
c.928T>G (p.Phe310Val)
c.79T>G (p.Phe27Val)
22g.19765052T>ACA410683430TBX1c.332T>A (p.Phe111Tyr)
c.806T>A (p.Phe269Tyr)
c.779T>A (p.Phe260Tyr)
c.929T>A (p.Phe310Tyr)
c.80T>A (p.Phe27Tyr)
22g.19765052T>CCA410683431TBX1c.332T>C (p.Phe111Ser)
c.806T>C (p.Phe269Ser)
c.779T>C (p.Phe260Ser)
c.929T>C (p.Phe310Ser)
c.80T>C (p.Phe27Ser)
22g.19765052T>GCA410683432TBX1c.332T>G (p.Phe111Cys)
c.806T>G (p.Phe269Cys)
c.779T>G (p.Phe260Cys)
c.929T>G (p.Phe310Cys)
c.80T>G (p.Phe27Cys)
22g.19765053C>ACA410683433TBX1c.333C>A (p.Phe111Leu)
c.807C>A (p.Phe269Leu)
c.780C>A (p.Phe260Leu)
c.930C>A (p.Phe310Leu)
c.81C>A (p.Phe27Leu)
22g.19765053C=CA2396031448TBX1c.333C= (p.Phe111=)
c.807C= (p.Phe269=)
c.780C= (p.Phe260=)
c.930C= (p.Phe310=)
c.81C= (p.Phe27=)
22g.19765053C>GCA410683434TBX1c.333C>G (p.Phe111Leu)
c.807C>G (p.Phe269Leu)
c.780C>G (p.Phe260Leu)
c.930C>G (p.Phe310Leu)
c.81C>G (p.Phe27Leu)
22g.19765053C>TCA513361414TBX1c.333C>T (p.Phe111=)
c.807C>T (p.Phe269=)
c.780C>T (p.Phe260=)
c.930C>T (p.Phe310=)
c.81C>T (p.Phe27=)
 dbSNP
22g.19765054A>CCA410683435TBX1c.334A>C (p.Lys112Gln)
c.808A>C (p.Lys270Gln)
c.781A>C (p.Lys261Gln)
c.931A>C (p.Lys311Gln)
c.82A>C (p.Lys28Gln)
22g.19765054A>GCA410683436TBX1c.334A>G (p.Lys112Glu)
c.808A>G (p.Lys270Glu)
c.781A>G (p.Lys261Glu)
c.931A>G (p.Lys311Glu)
c.82A>G (p.Lys28Glu)
22g.19765054A>TCA410683437TBX1c.334A>T (p.Lys112Ter)
c.808A>T (p.Lys270Ter)
c.781A>T (p.Lys261Ter)
c.931A>T (p.Lys311Ter)
c.82A>T (p.Lys28Ter)
22g.19765055A>CCA410683439TBX1c.335A>C (p.Lys112Thr)
c.809A>C (p.Lys270Thr)
c.782A>C (p.Lys261Thr)
c.932A>C (p.Lys311Thr)
c.83A>C (p.Lys28Thr)
22g.19765055A>GCA410683440TBX1c.335A>G (p.Lys112Arg)
c.809A>G (p.Lys270Arg)
c.782A>G (p.Lys261Arg)
c.932A>G (p.Lys311Arg)
c.83A>G (p.Lys28Arg)
22g.19765055A>TCA410683438TBX1c.335A>T (p.Lys112Ile)
c.809A>T (p.Lys270Ile)
c.782A>T (p.Lys261Ile)
c.932A>T (p.Lys311Ile)
c.83A>T (p.Lys28Ile)
22g.19765056A>CCA410683441TBX1c.336A>C (p.Lys112Asn)
c.810A>C (p.Lys270Asn)
c.783A>C (p.Lys261Asn)
c.933A>C (p.Lys311Asn)
c.84A>C (p.Lys28Asn)
22g.19765056A>GCA513361415TBX1c.336A>G (p.Lys112=)
c.810A>G (p.Lys270=)
c.783A>G (p.Lys261=)
c.933A>G (p.Lys311=)
c.84A>G (p.Lys28=)
22g.19765056A>TCA410683442TBX1c.336A>T (p.Lys112Asn)
c.810A>T (p.Lys270Asn)
c.783A>T (p.Lys261Asn)
c.933A>T (p.Lys311Asn)
c.84A>T (p.Lys28Asn)
22g.19765057A>CCA410683443TBX1c.337A>C (p.Thr113Pro)
c.811A>C (p.Thr271Pro)
c.784A>C (p.Thr262Pro)
c.934A>C (p.Thr312Pro)
c.85A>C (p.Thr29Pro)
22g.19765057A>GCA410683444TBX1c.337A>G (p.Thr113Ala)
c.811A>G (p.Thr271Ala)
c.784A>G (p.Thr262Ala)
c.934A>G (p.Thr312Ala)
c.85A>G (p.Thr29Ala)
22g.19765057A>TCA410683445TBX1c.337A>T (p.Thr113Ser)
c.811A>T (p.Thr271Ser)
c.784A>T (p.Thr262Ser)
c.934A>T (p.Thr312Ser)
c.85A>T (p.Thr29Ser)
22g.19765058C>ACA410683446TBX1c.338C>A (p.Thr113Asn)
c.812C>A (p.Thr271Asn)
c.785C>A (p.Thr262Asn)
c.935C>A (p.Thr312Asn)
c.86C>A (p.Thr29Asn)
22g.19765058C=CA2396031449TBX1c.338C= (p.Thr113=)
c.812C= (p.Thr271=)
c.785C= (p.Thr262=)
c.935C= (p.Thr312=)
c.86C= (p.Thr29=)
22g.19765058C>GCA410683447TBX1c.338C>G (p.Thr113Ser)
c.812C>G (p.Thr271Ser)
c.785C>G (p.Thr262Ser)
c.935C>G (p.Thr312Ser)
c.86C>G (p.Thr29Ser)
 dbSNP gnomAD v4
22g.19765058C>TCA410683448TBX1c.338C>T (p.Thr113Ile)
c.812C>T (p.Thr271Ile)
c.785C>T (p.Thr262Ile)
c.935C>T (p.Thr312Ile)
c.86C>T (p.Thr29Ile)
 gnomAD v4
22g.19765059C>ACA513361416TBX1c.339C>A (p.Thr113=)
c.813C>A (p.Thr271=)
c.786C>A (p.Thr262=)
c.936C>A (p.Thr312=)
c.87C>A (p.Thr29=)
 dbSNP gnomAD v2 gnomAD v4
22g.19765059C=CA2396031450TBX1c.339C= (p.Thr113=)
c.813C= (p.Thr271=)
c.786C= (p.Thr262=)
c.936C= (p.Thr312=)
c.87C= (p.Thr29=)
22g.19765059C>GCA322056593TBX1c.339C>G (p.Thr113=)
c.813C>G (p.Thr271=)
c.786C>G (p.Thr262=)
c.936C>G (p.Thr312=)
c.87C>G (p.Thr29=)
 dbSNP
22g.19765059C>TCA513361417TBX1c.339C>T (p.Thr113=)
c.813C>T (p.Thr271=)
c.786C>T (p.Thr262=)
c.936C>T (p.Thr312=)
c.87C>T (p.Thr29=)
 ClinVar dbSNP gnomAD v4
22g.19765060T>ACA410683449TBX1c.340T>A (p.Phe114Ile)
c.814T>A (p.Phe272Ile)
c.787T>A (p.Phe263Ile)
c.937T>A (p.Phe313Ile)
c.88T>A (p.Phe30Ile)
 ClinVar
22g.19765060T>CCA410683450TBX1c.340T>C (p.Phe114Leu)
c.814T>C (p.Phe272Leu)
c.787T>C (p.Phe263Leu)
c.937T>C (p.Phe313Leu)
c.88T>C (p.Phe30Leu)
 dbSNP gnomAD v4
22g.19765060T>GCA410683451TBX1c.340T>G (p.Phe114Val)
c.814T>G (p.Phe272Val)
c.787T>G (p.Phe263Val)
c.937T>G (p.Phe313Val)
c.88T>G (p.Phe30Val)
22g.19765060T=CA2396031451TBX1c.340T= (p.Phe114=)
c.814T= (p.Phe272=)
c.787T= (p.Phe263=)
c.937T= (p.Phe313=)
c.88T= (p.Phe30=)
22g.19765061T>ACA410683452TBX1c.341T>A (p.Phe114Tyr)
c.815T>A (p.Phe272Tyr)
c.788T>A (p.Phe263Tyr)
c.938T>A (p.Phe313Tyr)
c.89T>A (p.Phe30Tyr)
22g.19765061T>CCA410683453TBX1c.341T>C (p.Phe114Ser)
c.815T>C (p.Phe272Ser)
c.788T>C (p.Phe263Ser)
c.938T>C (p.Phe313Ser)
c.89T>C (p.Phe30Ser)
22g.19765061T>GCA410683454TBX1c.341T>G (p.Phe114Cys)
c.815T>G (p.Phe272Cys)
c.788T>G (p.Phe263Cys)
c.938T>G (p.Phe313Cys)
c.89T>G (p.Phe30Cys)
22g.19765062T>ACA410683455TBX1c.342T>A (p.Phe114Leu)
c.816T>A (p.Phe272Leu)
c.789T>A (p.Phe263Leu)
c.939T>A (p.Phe313Leu)
c.90T>A (p.Phe30Leu)
22g.19765062T>CCA513361418TBX1c.342T>C (p.Phe114=)
c.816T>C (p.Phe272=)
c.789T>C (p.Phe263=)
c.939T>C (p.Phe313=)
c.90T>C (p.Phe30=)
22g.19765062T>GCA410683456TBX1c.342T>G (p.Phe114Leu)
c.816T>G (p.Phe272Leu)
c.789T>G (p.Phe263Leu)
c.939T>G (p.Phe313Leu)
c.90T>G (p.Phe30Leu)
22g.19765063G>ACA410683457TBX1c.343G>A (p.Val115Met)
c.817G>A (p.Val273Met)
c.790G>A (p.Val264Met)
c.940G>A (p.Val314Met)
c.91G>A (p.Val31Met)
22g.19765063G>CCA410683458TBX1c.343G>C (p.Val115Leu)
c.817G>C (p.Val273Leu)
c.790G>C (p.Val264Leu)
c.940G>C (p.Val314Leu)
c.91G>C (p.Val31Leu)
22g.19765063G>TCA410683459TBX1c.343G>T (p.Val115Leu)
c.817G>T (p.Val273Leu)
c.790G>T (p.Val264Leu)
c.940G>T (p.Val314Leu)
c.91G>T (p.Val31Leu)
22g.19765064T>ACA410683460TBX1c.344T>A (p.Val115Glu)
c.818T>A (p.Val273Glu)
c.791T>A (p.Val264Glu)
c.941T>A (p.Val314Glu)
c.92T>A (p.Val31Glu)
22g.19765064T>CCA410683461TBX1c.344T>C (p.Val115Ala)
c.818T>C (p.Val273Ala)
c.791T>C (p.Val264Ala)
c.941T>C (p.Val314Ala)
c.92T>C (p.Val31Ala)
 dbSNP gnomAD v4
22g.19765064T>GCA410683462TBX1c.344T>G (p.Val115Gly)
c.818T>G (p.Val273Gly)
c.791T>G (p.Val264Gly)
c.941T>G (p.Val314Gly)
c.92T>G (p.Val31Gly)
 gnomAD v4
22g.19765064T=CA2396031452TBX1c.344T= (p.Val115=)
c.818T= (p.Val273=)
c.791T= (p.Val264=)
c.941T= (p.Val314=)
c.92T= (p.Val31=)
22g.19765065G>ACA513361420TBX1c.345G>A (p.Val115=)
c.819G>A (p.Val273=)
c.792G>A (p.Val264=)
c.942G>A (p.Val314=)
c.93G>A (p.Val31=)
 dbSNP gnomAD v3 gnomAD v4
22g.19765065G>CCA513361421TBX1c.345G>C (p.Val115=)
c.819G>C (p.Val273=)
c.792G>C (p.Val264=)
c.942G>C (p.Val314=)
c.93G>C (p.Val31=)
22g.19765065G=CA2396031453TBX1c.345G= (p.Val115=)
c.819G= (p.Val273=)
c.792G= (p.Val264=)
c.942G= (p.Val314=)
c.93G= (p.Val31=)
22g.19765065G>TCA513361422TBX1c.345G>T (p.Val115=)
c.819G>T (p.Val273=)
c.792G>T (p.Val264=)
c.942G>T (p.Val314=)
c.93G>T (p.Val31=)
22g.19765066T>ACA410683463TBX1c.346T>A (p.Phe116Ile)
c.820T>A (p.Phe274Ile)
c.793T>A (p.Phe265Ile)
c.943T>A (p.Phe315Ile)
c.94T>A (p.Phe32Ile)
22g.19765066T>CCA10102560TBX1c.346T>C (p.Phe116Leu)
c.820T>C (p.Phe274Leu)
c.793T>C (p.Phe265Leu)
c.943T>C (p.Phe315Leu)
c.94T>C (p.Phe32Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.19765066T>GCA410683464TBX1c.346T>G (p.Phe116Val)
c.820T>G (p.Phe274Val)
c.793T>G (p.Phe265Val)
c.943T>G (p.Phe315Val)
c.94T>G (p.Phe32Val)
22g.19765066T=CA2396031454TBX1c.346T= (p.Phe116=)
c.820T= (p.Phe274=)
c.793T= (p.Phe265=)
c.943T= (p.Phe315=)
c.94T= (p.Phe32=)
22g.19765067T>ACA410683465TBX1c.347T>A (p.Phe116Tyr)
c.821T>A (p.Phe274Tyr)
c.794T>A (p.Phe265Tyr)
c.944T>A (p.Phe315Tyr)
c.95T>A (p.Phe32Tyr)
22g.19765067T>CCA410683466TBX1c.347T>C (p.Phe116Ser)
c.821T>C (p.Phe274Ser)
c.794T>C (p.Phe265Ser)
c.944T>C (p.Phe315Ser)
c.95T>C (p.Phe32Ser)
22g.19765067T>GCA410683467TBX1c.347T>G (p.Phe116Cys)
c.821T>G (p.Phe274Cys)
c.794T>G (p.Phe265Cys)
c.944T>G (p.Phe315Cys)
c.95T>G (p.Phe32Cys)
22g.19765068C>ACA410683468TBX1c.348C>A (p.Phe116Leu)
c.822C>A (p.Phe274Leu)
c.795C>A (p.Phe265Leu)
c.945C>A (p.Phe315Leu)
c.96C>A (p.Phe32Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.19765068C=CA2396031455TBX1c.348C= (p.Phe116=)
c.822C= (p.Phe274=)
c.795C= (p.Phe265=)
c.945C= (p.Phe315=)
c.96C= (p.Phe32=)
22g.19765068C>GCA10102562TBX1c.348C>G (p.Phe116Leu)
c.822C>G (p.Phe274Leu)
c.795C>G (p.Phe265Leu)
c.945C>G (p.Phe315Leu)
c.96C>G (p.Phe32Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19765068C>TCA10102561TBX1c.348C>T (p.Phe116=)
c.822C>T (p.Phe274=)
c.795C>T (p.Phe265=)
c.945C>T (p.Phe315=)
c.96C>T (p.Phe32=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19765069G>ACA10102563TBX1c.349G>A (p.Glu117Lys)
c.823G>A (p.Glu275Lys)
c.796G>A (p.Glu266Lys)
c.946G>A (p.Glu316Lys)
c.97G>A (p.Glu33Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22g.19765069G>CCA10102564TBX1c.349G>C (p.Glu117Gln)
c.823G>C (p.Glu275Gln)
c.796G>C (p.Glu266Gln)
c.946G>C (p.Glu316Gln)
c.97G>C (p.Glu33Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19765069G=CA2396031456TBX1c.349G= (p.Glu117=)
c.823G= (p.Glu275=)
c.796G= (p.Glu266=)
c.946G= (p.Glu316=)
c.97G= (p.Glu33=)
22g.19765069G>TCA16621036TBX1c.349G>T (p.Glu117Ter)
c.823G>T (p.Glu275Ter)
c.796G>T (p.Glu266Ter)
c.946G>T (p.Glu316Ter)
c.97G>T (p.Glu33Ter)
 ClinVar dbSNP
22g.19765070A>CCA410683469TBX1c.350A>C (p.Glu117Ala)
c.824A>C (p.Glu275Ala)
c.797A>C (p.Glu266Ala)
c.947A>C (p.Glu316Ala)
c.98A>C (p.Glu33Ala)
22g.19765070A>GCA410683470TBX1c.350A>G (p.Glu117Gly)
c.824A>G (p.Glu275Gly)
c.797A>G (p.Glu266Gly)
c.947A>G (p.Glu316Gly)
c.98A>G (p.Glu33Gly)
22g.19765070A>TCA410683471TBX1c.350A>T (p.Glu117Val)
c.824A>T (p.Glu275Val)
c.797A>T (p.Glu266Val)
c.947A>T (p.Glu316Val)
c.98A>T (p.Glu33Val)
22g.19765071G>ACA10102565TBX1c.351G>A (p.Glu117=)
c.825G>A (p.Glu275=)
c.798G>A (p.Glu266=)
c.948G>A (p.Glu316=)
c.99G>A (p.Glu33=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19765071G>CCA410683472TBX1c.351G>C (p.Glu117Asp)
c.825G>C (p.Glu275Asp)
c.798G>C (p.Glu266Asp)
c.948G>C (p.Glu316Asp)
c.99G>C (p.Glu33Asp)
22g.19765071G=CA2396031457TBX1c.351G= (p.Glu117=)
c.825G= (p.Glu275=)
c.798G= (p.Glu266=)
c.948G= (p.Glu316=)
c.99G= (p.Glu33=)
22g.19765071G>TCA410683473TBX1c.351G>T (p.Glu117Asp)
c.825G>T (p.Glu275Asp)
c.798G>T (p.Glu266Asp)
c.948G>T (p.Glu316Asp)
c.99G>T (p.Glu33Asp)
22g.19765072G>ACA410683474TBX1c.352G>A (p.Glu118Lys)
c.826G>A (p.Glu276Lys)
c.799G>A (p.Glu267Lys)
c.949G>A (p.Glu317Lys)
c.100G>A (p.Glu34Lys)
22g.19765072G>CCA410683475TBX1c.352G>C (p.Glu118Gln)
c.826G>C (p.Glu276Gln)
c.799G>C (p.Glu267Gln)
c.949G>C (p.Glu317Gln)
c.100G>C (p.Glu34Gln)
22g.19765072G>TCA410683476TBX1c.352G>T (p.Glu118Ter)
c.826G>T (p.Glu276Ter)
c.799G>T (p.Glu267Ter)
c.949G>T (p.Glu317Ter)
c.100G>T (p.Glu34Ter)
22g.19765073A>CCA410683477TBX1c.353A>C (p.Glu118Ala)
c.827A>C (p.Glu276Ala)
c.800A>C (p.Glu267Ala)
c.950A>C (p.Glu317Ala)
c.101A>C (p.Glu34Ala)
22g.19765073A>GCA410683478TBX1c.353A>G (p.Glu118Gly)
c.827A>G (p.Glu276Gly)
c.800A>G (p.Glu267Gly)
c.950A>G (p.Glu317Gly)
c.101A>G (p.Glu34Gly)
22g.19765073A>TCA410683479TBX1c.353A>T (p.Glu118Val)
c.827A>T (p.Glu276Val)
c.800A>T (p.Glu267Val)
c.950A>T (p.Glu317Val)
c.101A>T (p.Glu34Val)
22g.19765074G>ACA513361423TBX1c.354G>A (p.Glu118=)
c.828G>A (p.Glu276=)
c.801G>A (p.Glu267=)
c.951G>A (p.Glu317=)
c.102G>A (p.Glu34=)
 gnomAD v4
22g.19765074G>CCA410683480TBX1c.354G>C (p.Glu118Asp)
c.828G>C (p.Glu276Asp)
c.801G>C (p.Glu267Asp)
c.951G>C (p.Glu317Asp)
c.102G>C (p.Glu34Asp)
22g.19765074G>TCA410683481TBX1c.354G>T (p.Glu118Asp)
c.828G>T (p.Glu276Asp)
c.801G>T (p.Glu267Asp)
c.951G>T (p.Glu317Asp)
c.102G>T (p.Glu34Asp)
22g.19765075A>CCA410683482TBX1c.355A>C (p.Thr119Pro)
c.829A>C (p.Thr277Pro)
c.802A>C (p.Thr268Pro)
c.952A>C (p.Thr318Pro)
c.103A>C (p.Thr35Pro)
22g.19765075A>GCA410683483TBX1c.355A>G (p.Thr119Ala)
c.829A>G (p.Thr277Ala)
c.802A>G (p.Thr268Ala)
c.952A>G (p.Thr318Ala)
c.103A>G (p.Thr35Ala)
22g.19765075A>TCA410683484TBX1c.355A>T (p.Thr119Ser)
c.829A>T (p.Thr277Ser)
c.802A>T (p.Thr268Ser)
c.952A>T (p.Thr318Ser)
c.103A>T (p.Thr35Ser)
22g.19765076C>ACA410683485TBX1c.356C>A (p.Thr119Lys)
c.830C>A (p.Thr277Lys)
c.803C>A (p.Thr268Lys)
c.953C>A (p.Thr318Lys)
c.104C>A (p.Thr35Lys)
22g.19765076C=CA2396031458TBX1c.356C= (p.Thr119=)
c.830C= (p.Thr277=)
c.803C= (p.Thr268=)
c.953C= (p.Thr318=)
c.104C= (p.Thr35=)
22g.19765076C>GCA410683486TBX1c.356C>G (p.Thr119Arg)
c.830C>G (p.Thr277Arg)
c.803C>G (p.Thr268Arg)
c.953C>G (p.Thr318Arg)
c.104C>G (p.Thr35Arg)
22g.19765076C>TCA410683487TBX1c.356C>T (p.Thr119Ile)
c.830C>T (p.Thr277Ile)
c.803C>T (p.Thr268Ile)
c.953C>T (p.Thr318Ile)
c.104C>T (p.Thr35Ile)
 dbSNP
22g.19765077A=CA2396031459TBX1c.357A= (p.Thr119=)
c.831A= (p.Thr277=)
c.804A= (p.Thr268=)
c.954A= (p.Thr318=)
c.105A= (p.Thr35=)
22g.19765077A>CCA513361424TBX1c.357A>C (p.Thr119=)
c.831A>C (p.Thr277=)
c.804A>C (p.Thr268=)
c.954A>C (p.Thr318=)
c.105A>C (p.Thr35=)
22g.19765077A>GCA513361425TBX1c.357A>G (p.Thr119=)
c.831A>G (p.Thr277=)
c.804A>G (p.Thr268=)
c.954A>G (p.Thr318=)
c.105A>G (p.Thr35=)
 dbSNP gnomAD v4
22g.19765077A>TCA513361426TBX1c.357A>T (p.Thr119=)
c.831A>T (p.Thr277=)
c.804A>T (p.Thr268=)
c.954A>T (p.Thr318=)
c.105A>T (p.Thr35=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19765078C>ACA513361427TBX1c.358C>A (p.Arg120=)
c.832C>A (p.Arg278=)
c.805C>A (p.Arg269=)
c.955C>A (p.Arg319=)
c.106C>A (p.Arg36=)
22g.19765078C>GCA410683488TBX1c.358C>G (p.Arg120Gly)
c.832C>G (p.Arg278Gly)
c.805C>G (p.Arg269Gly)
c.955C>G (p.Arg319Gly)
c.106C>G (p.Arg36Gly)
22g.19765078C>TCA410683489TBX1c.358C>T (p.Arg120Ter)
c.832C>T (p.Arg278Ter)
c.805C>T (p.Arg269Ter)
c.955C>T (p.Arg319Ter)
c.106C>T (p.Arg36Ter)
 gnomAD v4 COSMIC COSMIC COSMIC
22g.19765079G>ACA410683490TBX1c.359G>A (p.Arg120Gln)
c.833G>A (p.Arg278Gln)
c.806G>A (p.Arg269Gln)
n.1G>A
c.956G>A (p.Arg319Gln)
c.107G>A (p.Arg36Gln)
 dbSNP gnomAD v4
22g.19765079G>CCA410683491TBX1c.359G>C (p.Arg120Pro)
c.833G>C (p.Arg278Pro)
c.806G>C (p.Arg269Pro)
n.1G>C
c.956G>C (p.Arg319Pro)
c.107G>C (p.Arg36Pro)
22g.19765079G=CA2396031460TBX1c.359G= (p.Arg120=)
c.833G= (p.Arg278=)
c.806G= (p.Arg269=)
n.1G=
c.956G= (p.Arg319=)
c.107G= (p.Arg36=)
22g.19765079G>TCA410683492TBX1c.359G>T (p.Arg120Leu)
c.833G>T (p.Arg278Leu)
c.806G>T (p.Arg269Leu)
n.1G>T
c.956G>T (p.Arg319Leu)
c.107G>T (p.Arg36Leu)
22g.19765080A>CCA513361428TBX1c.360A>C (p.Arg120=)
c.834A>C (p.Arg278=)
c.807A>C (p.Arg269=)
n.2A>C
c.957A>C (p.Arg319=)
c.108A>C (p.Arg36=)
22g.19765080A>GCA513361429TBX1c.360A>G (p.Arg120=)
c.834A>G (p.Arg278=)
c.807A>G (p.Arg269=)
n.2A>G
c.957A>G (p.Arg319=)
c.108A>G (p.Arg36=)
22g.19765080A>TCA513361430TBX1c.360A>T (p.Arg120=)
c.834A>T (p.Arg278=)
c.807A>T (p.Arg269=)
n.2A>T
c.957A>T (p.Arg319=)
c.108A>T (p.Arg36=)
22g.19765081T>ACA410683494TBX1c.361T>A (p.Phe121Ile)
c.835T>A (p.Phe279Ile)
c.808T>A (p.Phe270Ile)
n.3T>A
c.958T>A (p.Phe320Ile)
c.109T>A (p.Phe37Ile)
22g.19765081T>CCA410683495TBX1c.361T>C (p.Phe121Leu)
c.835T>C (p.Phe279Leu)
c.808T>C (p.Phe270Leu)
n.3T>C
c.958T>C (p.Phe320Leu)
c.109T>C (p.Phe37Leu)
22g.19765081T>GCA410683493TBX1c.361T>G (p.Phe121Val)
c.835T>G (p.Phe279Val)
c.808T>G (p.Phe270Val)
n.3T>G
c.958T>G (p.Phe320Val)
c.109T>G (p.Phe37Val)
22g.19765082T>ACA410683496TBX1c.362T>A (p.Phe121Tyr)
c.836T>A (p.Phe279Tyr)
c.809T>A (p.Phe270Tyr)
n.4T>A
c.959T>A (p.Phe320Tyr)
c.110T>A (p.Phe37Tyr)
22g.19765082T>CCA410683497TBX1c.362T>C (p.Phe121Ser)
c.836T>C (p.Phe279Ser)
c.809T>C (p.Phe270Ser)
n.4T>C
c.959T>C (p.Phe320Ser)
c.110T>C (p.Phe37Ser)
22g.19765082T>GCA410683498TBX1c.362T>G (p.Phe121Cys)
c.836T>G (p.Phe279Cys)
c.809T>G (p.Phe270Cys)
n.4T>G
c.959T>G (p.Phe320Cys)
c.110T>G (p.Phe37Cys)
22g.19765083C>ACA410683499TBX1c.363C>A (p.Phe121Leu)
c.837C>A (p.Phe279Leu)
c.810C>A (p.Phe270Leu)
n.5C>A
c.960C>A (p.Phe320Leu)
c.111C>A (p.Phe37Leu)
22g.19765083C=CA2396031461TBX1c.363C= (p.Phe121=)
c.837C= (p.Phe279=)
c.810C= (p.Phe270=)
n.5C=
c.960C= (p.Phe320=)
c.111C= (p.Phe37=)
22g.19765083C>GCA410683500TBX1c.363C>G (p.Phe121Leu)
c.837C>G (p.Phe279Leu)
c.810C>G (p.Phe270Leu)
n.5C>G
c.960C>G (p.Phe320Leu)
c.111C>G (p.Phe37Leu)
 dbSNP gnomAD v2
22g.19765083C>TCA513361431TBX1c.363C>T (p.Phe121=)
c.837C>T (p.Phe279=)
c.810C>T (p.Phe270=)
n.5C>T
c.960C>T (p.Phe320=)
c.111C>T (p.Phe37=)

Number of alleles fetched