Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.19764224C>ACA410682814TBX1c.135C>A (p.His45Gln)
c.609C>A (p.His203Gln)
c.582C>A (p.His194Gln)
c.732C>A (p.His244Gln)
22g.19764224C=CA2396031067TBX1c.135C= (p.His45=)
c.609C= (p.His203=)
c.582C= (p.His194=)
c.732C= (p.His244=)
22g.19764224C>GCA254219TBX1c.135C>G (p.His45Gln)
c.609C>G (p.His203Gln)
c.582C>G (p.His194Gln)
c.732C>G (p.His244Gln)
 ClinVar dbSNP
22g.19764224C>TCA513361200TBX1c.135C>T (p.His45=)
c.609C>T (p.His203=)
c.582C>T (p.His194=)
c.732C>T (p.His244=)
 ClinVar gnomAD v4
22g.19764225T>ACA410682818TBX1c.136T>A (p.Tyr46Asn)
c.610T>A (p.Tyr204Asn)
c.583T>A (p.Tyr195Asn)
c.733T>A (p.Tyr245Asn)
22g.19764225T>CCA410682819TBX1c.136T>C (p.Tyr46His)
c.610T>C (p.Tyr204His)
c.583T>C (p.Tyr195His)
c.733T>C (p.Tyr245His)
22g.19764225T>GCA410682821TBX1c.136T>G (p.Tyr46Asp)
c.610T>G (p.Tyr204Asp)
c.583T>G (p.Tyr195Asp)
c.733T>G (p.Tyr245Asp)
22g.19764226A>CCA410682823TBX1c.137A>C (p.Tyr46Ser)
c.611A>C (p.Tyr204Ser)
c.584A>C (p.Tyr195Ser)
c.734A>C (p.Tyr245Ser)
22g.19764226A>GCA410682824TBX1c.137A>G (p.Tyr46Cys)
c.611A>G (p.Tyr204Cys)
c.584A>G (p.Tyr195Cys)
c.734A>G (p.Tyr245Cys)
 COSMIC COSMIC COSMIC
22g.19764226A>TCA410682825TBX1c.137A>T (p.Tyr46Phe)
c.611A>T (p.Tyr204Phe)
c.584A>T (p.Tyr195Phe)
c.734A>T (p.Tyr245Phe)
22g.19764227C>ACA410682828TBX1c.138C>A (p.Tyr46Ter)
c.612C>A (p.Tyr204Ter)
c.585C>A (p.Tyr195Ter)
c.735C>A (p.Tyr245Ter)
22g.19764227C=CA2396031068TBX1c.138C= (p.Tyr46=)
c.612C= (p.Tyr204=)
c.585C= (p.Tyr195=)
c.735C= (p.Tyr245=)
22g.19764227C>GCA410682829TBX1c.138C>G (p.Tyr46Ter)
c.612C>G (p.Tyr204Ter)
c.585C>G (p.Tyr195Ter)
c.735C>G (p.Tyr245Ter)
22g.19764227C>TCA513361201TBX1c.138C>T (p.Tyr46=)
c.612C>T (p.Tyr204=)
c.585C>T (p.Tyr195=)
c.735C>T (p.Tyr245=)
 ClinVar dbSNP gnomAD v4
22g.19764228C>ACA410682832TBX1c.139C>A (p.His47Asn)
c.613C>A (p.His205Asn)
c.586C>A (p.His196Asn)
c.736C>A (p.His246Asn)
22g.19764228C=CA2396031069TBX1c.139C= (p.His47=)
c.613C= (p.His205=)
c.586C= (p.His196=)
c.736C= (p.His246=)
22g.19764228C>GCA410682836TBX1c.139C>G (p.His47Asp)
c.613C>G (p.His205Asp)
c.586C>G (p.His196Asp)
c.736C>G (p.His246Asp)
 dbSNP gnomAD v3 gnomAD v4
22g.19764228C>TCA410682834TBX1c.139C>T (p.His47Tyr)
c.613C>T (p.His205Tyr)
c.586C>T (p.His196Tyr)
c.736C>T (p.His246Tyr)
22g.19764229A=CA2396031070TBX1c.140A= (p.His47=)
c.614A= (p.His205=)
c.587A= (p.His196=)
c.737A= (p.His246=)
22g.19764229A>CCA410682838TBX1c.140A>C (p.His47Pro)
c.614A>C (p.His205Pro)
c.587A>C (p.His196Pro)
c.737A>C (p.His246Pro)
 dbSNP
22g.19764229A>GCA410682840TBX1c.140A>G (p.His47Arg)
c.614A>G (p.His205Arg)
c.587A>G (p.His196Arg)
c.737A>G (p.His246Arg)
 gnomAD v4
22g.19764229A>TCA410682842TBX1c.140A>T (p.His47Leu)
c.614A>T (p.His205Leu)
c.587A>T (p.His196Leu)
c.737A>T (p.His246Leu)
22g.19764230C>ACA410682844TBX1c.141C>A (p.His47Gln)
c.615C>A (p.His205Gln)
c.588C>A (p.His196Gln)
c.738C>A (p.His246Gln)
22g.19764230C=CA2396031071TBX1c.141C= (p.His47=)
c.615C= (p.His205=)
c.588C= (p.His196=)
c.738C= (p.His246=)
22g.19764230C>GCA410682846TBX1c.141C>G (p.His47Gln)
c.615C>G (p.His205Gln)
c.588C>G (p.His196Gln)
c.738C>G (p.His246Gln)
 dbSNP gnomAD v4
22g.19764230C>TCA513361202TBX1c.141C>T (p.His47=)
c.615C>T (p.His205=)
c.588C>T (p.His196=)
c.738C>T (p.His246=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.19764231C>ACA410682849TBX1c.142C>A (p.Pro48Thr)
c.616C>A (p.Pro206Thr)
c.589C>A (p.Pro197Thr)
c.739C>A (p.Pro247Thr)
22g.19764231C>GCA410682850TBX1c.142C>G (p.Pro48Ala)
c.616C>G (p.Pro206Ala)
c.589C>G (p.Pro197Ala)
c.739C>G (p.Pro247Ala)
 ClinVar dbSNP
22g.19764231C>TCA410682852TBX1c.142C>T (p.Pro48Ser)
c.616C>T (p.Pro206Ser)
c.589C>T (p.Pro197Ser)
c.739C>T (p.Pro247Ser)
22g.19764232C>ACA410682855TBX1c.143C>A (p.Pro48Gln)
c.617C>A (p.Pro206Gln)
c.590C>A (p.Pro197Gln)
c.740C>A (p.Pro247Gln)
22g.19764232C=CA2396031072TBX1c.143C= (p.Pro48=)
c.617C= (p.Pro206=)
c.590C= (p.Pro197=)
c.740C= (p.Pro247=)
22g.19764232C>GCA410682857TBX1c.143C>G (p.Pro48Arg)
c.617C>G (p.Pro206Arg)
c.590C>G (p.Pro197Arg)
c.740C>G (p.Pro247Arg)
22g.19764232C>TCA10102504TBX1c.143C>T (p.Pro48Leu)
c.617C>T (p.Pro206Leu)
c.590C>T (p.Pro197Leu)
c.740C>T (p.Pro247Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.19764233G>ACA513361203TBX1c.144G>A (p.Pro48=)
c.618G>A (p.Pro206=)
c.591G>A (p.Pro197=)
c.741G>A (p.Pro247=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22g.19764233G>CCA513361204TBX1c.144G>C (p.Pro48=)
c.618G>C (p.Pro206=)
c.591G>C (p.Pro197=)
c.741G>C (p.Pro247=)
22g.19764233G=CA2396031073TBX1c.144G= (p.Pro48=)
c.618G= (p.Pro206=)
c.591G= (p.Pro197=)
c.741G= (p.Pro247=)
22g.19764233G>TCA513361205TBX1c.144G>T (p.Pro48=)
c.618G>T (p.Pro206=)
c.591G>T (p.Pro197=)
c.741G>T (p.Pro247=)
22g.19764234G>ACA410682860TBX1c.145G>A (p.Asp49Asn)
c.619G>A (p.Asp207Asn)
c.592G>A (p.Asp198Asn)
c.742G>A (p.Asp248Asn)
22g.19764234G>CCA410682862TBX1c.145G>C (p.Asp49His)
c.619G>C (p.Asp207His)
c.592G>C (p.Asp198His)
c.742G>C (p.Asp248His)
 ClinVar
22g.19764234G>TCA410682859TBX1c.145G>T (p.Asp49Tyr)
c.619G>T (p.Asp207Tyr)
c.592G>T (p.Asp198Tyr)
c.742G>T (p.Asp248Tyr)
22g.19764235A>CCA410682866TBX1c.146A>C (p.Asp49Ala)
c.620A>C (p.Asp207Ala)
c.593A>C (p.Asp198Ala)
c.743A>C (p.Asp248Ala)
22g.19764235A>GCA410682864TBX1c.146A>G (p.Asp49Gly)
c.620A>G (p.Asp207Gly)
c.593A>G (p.Asp198Gly)
c.743A>G (p.Asp248Gly)
22g.19764235A>TCA410682867TBX1c.146A>T (p.Asp49Val)
c.620A>T (p.Asp207Val)
c.593A>T (p.Asp198Val)
c.743A>T (p.Asp248Val)
22g.19764236C>ACA410682870TBX1c.147C>A (p.Asp49Glu)
c.621C>A (p.Asp207Glu)
c.594C>A (p.Asp198Glu)
c.744C>A (p.Asp248Glu)
22g.19764236C>GCA410682872TBX1c.147C>G (p.Asp49Glu)
c.621C>G (p.Asp207Glu)
c.594C>G (p.Asp198Glu)
c.744C>G (p.Asp248Glu)
22g.19764236C>TCA513361206TBX1c.147C>T (p.Asp49=)
c.621C>T (p.Asp207=)
c.594C>T (p.Asp198=)
c.744C>T (p.Asp248=)
22g.19764237T>ACA410682874TBX1c.148T>A (p.Ser50Thr)
c.622T>A (p.Ser208Thr)
c.595T>A (p.Ser199Thr)
c.745T>A (p.Ser249Thr)
22g.19764237T>CCA410682876TBX1c.148T>C (p.Ser50Pro)
c.622T>C (p.Ser208Pro)
c.595T>C (p.Ser199Pro)
c.745T>C (p.Ser249Pro)
22g.19764237T>GCA410682877TBX1c.148T>G (p.Ser50Ala)
c.622T>G (p.Ser208Ala)
c.595T>G (p.Ser199Ala)
c.745T>G (p.Ser249Ala)
22g.19764238C>ACA410682879TBX1c.149C>A (p.Ser50Ter)
c.623C>A (p.Ser208Ter)
c.596C>A (p.Ser199Ter)
c.746C>A (p.Ser249Ter)
 dbSNP gnomAD v4
22g.19764238C=CA2396031074TBX1c.149C= (p.Ser50=)
c.623C= (p.Ser208=)
c.596C= (p.Ser199=)
c.746C= (p.Ser249=)
22g.19764238C>GCA410682882TBX1c.149C>G (p.Ser50Trp)
c.623C>G (p.Ser208Trp)
c.596C>G (p.Ser199Trp)
c.746C>G (p.Ser249Trp)
22g.19764238C>TCA410682883TBX1c.149C>T (p.Ser50Leu)
c.623C>T (p.Ser208Leu)
c.596C>T (p.Ser199Leu)
c.746C>T (p.Ser249Leu)
 ClinVar dbSNP gnomAD v4
22g.19764239G>ACA10102505TBX1c.150G>A (p.Ser50=)
c.624G>A (p.Ser208=)
c.597G>A (p.Ser199=)
c.747G>A (p.Ser249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764239G>CCA513361207TBX1c.150G>C (p.Ser50=)
c.624G>C (p.Ser208=)
c.597G>C (p.Ser199=)
c.747G>C (p.Ser249=)
22g.19764239G=CA2396031075TBX1c.150G= (p.Ser50=)
c.624G= (p.Ser208=)
c.597G= (p.Ser199=)
c.747G= (p.Ser249=)
22g.19764239G>TCA513361208TBX1c.150G>T (p.Ser50=)
c.624G>T (p.Ser208=)
c.597G>T (p.Ser199=)
c.747G>T (p.Ser249=)
 gnomAD v4
22g.19764240C>ACA410682886TBX1c.151C>A (p.Pro51Thr)
c.625C>A (p.Pro209Thr)
c.598C>A (p.Pro200Thr)
c.748C>A (p.Pro250Thr)
22g.19764240C=CA2396031076TBX1c.151C= (p.Pro51=)
c.625C= (p.Pro209=)
c.598C= (p.Pro200=)
c.748C= (p.Pro250=)
22g.19764240C>GCA322055675TBX1c.151C>G (p.Pro51Ala)
c.625C>G (p.Pro209Ala)
c.598C>G (p.Pro200Ala)
c.748C>G (p.Pro250Ala)
 dbSNP
22g.19764240C>TCA410682888TBX1c.151C>T (p.Pro51Ser)
c.625C>T (p.Pro209Ser)
c.598C>T (p.Pro200Ser)
c.748C>T (p.Pro250Ser)
22g.19764241C>ACA410682890TBX1c.152C>A (p.Pro51His)
c.626C>A (p.Pro209His)
c.599C>A (p.Pro200His)
c.749C>A (p.Pro250His)
22g.19764241C=CA2396031077TBX1c.152C= (p.Pro51=)
c.626C= (p.Pro209=)
c.599C= (p.Pro200=)
c.749C= (p.Pro250=)
22g.19764241C>GCA410682893TBX1c.152C>G (p.Pro51Arg)
c.626C>G (p.Pro209Arg)
c.599C>G (p.Pro200Arg)
c.749C>G (p.Pro250Arg)
22g.19764241C>TCA410682891TBX1c.152C>T (p.Pro51Leu)
c.626C>T (p.Pro209Leu)
c.599C>T (p.Pro200Leu)
c.749C>T (p.Pro250Leu)
 dbSNP gnomAD v2 gnomAD v4
22g.19764242T>ACA513361209TBX1c.153T>A (p.Pro51=)
c.627T>A (p.Pro209=)
c.600T>A (p.Pro200=)
c.750T>A (p.Pro250=)
22g.19764242T>CCA513361210TBX1c.153T>C (p.Pro51=)
c.627T>C (p.Pro209=)
c.600T>C (p.Pro200=)
c.750T>C (p.Pro250=)
 ClinVar gnomAD v4
22g.19764242T>GCA322055676TBX1c.153T>G (p.Pro51=)
c.627T>G (p.Pro209=)
c.600T>G (p.Pro200=)
c.750T>G (p.Pro250=)
 dbSNP gnomAD v4
22g.19764242T=CA2396031078TBX1c.153T= (p.Pro51=)
c.627T= (p.Pro209=)
c.600T= (p.Pro200=)
c.750T= (p.Pro250=)
22g.19764243G>ACA410682897TBX1c.154G>A (p.Ala52Thr)
c.628G>A (p.Ala210Thr)
c.601G>A (p.Ala201Thr)
c.751G>A (p.Ala251Thr)
22g.19764243G>CCA410682899TBX1c.154G>C (p.Ala52Pro)
c.628G>C (p.Ala210Pro)
c.601G>C (p.Ala201Pro)
c.751G>C (p.Ala251Pro)
22g.19764243G>TCA410682900TBX1c.154G>T (p.Ala52Ser)
c.628G>T (p.Ala210Ser)
c.601G>T (p.Ala201Ser)
c.751G>T (p.Ala251Ser)
22g.19764244C>ACA410682903TBX1c.155C>A (p.Ala52Asp)
c.629C>A (p.Ala210Asp)
c.602C>A (p.Ala201Asp)
c.752C>A (p.Ala251Asp)
22g.19764244C>GCA410682905TBX1c.155C>G (p.Ala52Gly)
c.629C>G (p.Ala210Gly)
c.602C>G (p.Ala201Gly)
c.752C>G (p.Ala251Gly)
 gnomAD v4
22g.19764244C>TCA410682907TBX1c.155C>T (p.Ala52Val)
c.629C>T (p.Ala210Val)
c.602C>T (p.Ala201Val)
c.752C>T (p.Ala251Val)
22g.19764245C>ACA513361211TBX1c.156C>A (p.Ala52=)
c.630C>A (p.Ala210=)
c.603C>A (p.Ala201=)
c.753C>A (p.Ala251=)
22g.19764245C>GCA513361212TBX1c.156C>G (p.Ala52=)
c.630C>G (p.Ala210=)
c.603C>G (p.Ala201=)
c.753C>G (p.Ala251=)
22g.19764245C>TCA513361213TBX1c.156C>T (p.Ala52=)
c.630C>T (p.Ala210=)
c.603C>T (p.Ala201=)
c.753C>T (p.Ala251=)
22g.19764246A>CCA410682909TBX1c.157A>C (p.Lys53Gln)
c.631A>C (p.Lys211Gln)
c.604A>C (p.Lys202Gln)
c.754A>C (p.Lys252Gln)
22g.19764246A>GCA410682910TBX1c.157A>G (p.Lys53Glu)
c.631A>G (p.Lys211Glu)
c.604A>G (p.Lys202Glu)
c.754A>G (p.Lys252Glu)
22g.19764246A>TCA410682911TBX1c.157A>T (p.Lys53Ter)
c.631A>T (p.Lys211Ter)
c.604A>T (p.Lys202Ter)
c.754A>T (p.Lys252Ter)
22g.19764247A=CA2396031079TBX1c.158A= (p.Lys53=)
c.632A= (p.Lys211=)
c.605A= (p.Lys202=)
c.755A= (p.Lys252=)
22g.19764247A>CCA410682915TBX1c.158A>C (p.Lys53Thr)
c.632A>C (p.Lys211Thr)
c.605A>C (p.Lys202Thr)
c.755A>C (p.Lys252Thr)
22g.19764247A>GCA10102506TBX1c.158A>G (p.Lys53Arg)
c.632A>G (p.Lys211Arg)
c.605A>G (p.Lys202Arg)
c.755A>G (p.Lys252Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764247A>TCA410682913TBX1c.158A>T (p.Lys53Met)
c.632A>T (p.Lys211Met)
c.605A>T (p.Lys202Met)
c.755A>T (p.Lys252Met)
22g.19764248G>ACA513361214TBX1c.159G>A (p.Lys53=)
c.633G>A (p.Lys211=)
c.606G>A (p.Lys202=)
c.756G>A (p.Lys252=)
 ClinVar dbSNP
22g.19764248G>CCA410682918TBX1c.159G>C (p.Lys53Asn)
c.633G>C (p.Lys211Asn)
c.606G>C (p.Lys202Asn)
c.756G>C (p.Lys252Asn)
22g.19764248G=CA2396031080TBX1c.159G= (p.Lys53=)
c.633G= (p.Lys211=)
c.606G= (p.Lys202=)
c.756G= (p.Lys252=)
22g.19764248G>TCA410682920TBX1c.159G>T (p.Lys53Asn)
c.633G>T (p.Lys211Asn)
c.606G>T (p.Lys202Asn)
c.756G>T (p.Lys252Asn)
22g.19764249G>ACA410682922TBX1c.160G>A (p.Gly54Ser)
c.634G>A (p.Gly212Ser)
c.607G>A (p.Gly203Ser)
c.757G>A (p.Gly253Ser)
22g.19764249G>CCA410682923TBX1c.160G>C (p.Gly54Arg)
c.634G>C (p.Gly212Arg)
c.607G>C (p.Gly203Arg)
c.757G>C (p.Gly253Arg)
22g.19764249G>TCA410682924TBX1c.160G>T (p.Gly54Cys)
c.634G>T (p.Gly212Cys)
c.607G>T (p.Gly203Cys)
c.757G>T (p.Gly253Cys)
22g.19764250G>ACA410682927TBX1c.161G>A (p.Gly54Asp)
c.635G>A (p.Gly212Asp)
c.608G>A (p.Gly203Asp)
c.758G>A (p.Gly253Asp)
22g.19764250G>CCA410682929TBX1c.161G>C (p.Gly54Ala)
c.635G>C (p.Gly212Ala)
c.608G>C (p.Gly203Ala)
c.758G>C (p.Gly253Ala)
22g.19764250G>TCA410682931TBX1c.161G>T (p.Gly54Val)
c.635G>T (p.Gly212Val)
c.608G>T (p.Gly203Val)
c.758G>T (p.Gly253Val)
22g.19764251C>ACA513361215TBX1c.162C>A (p.Gly54=)
c.636C>A (p.Gly212=)
c.609C>A (p.Gly203=)
c.759C>A (p.Gly253=)
22g.19764251C=CA2396031081TBX1c.162C= (p.Gly54=)
c.636C= (p.Gly212=)
c.609C= (p.Gly203=)
c.759C= (p.Gly253=)
22g.19764251C>GCA513361216TBX1c.162C>G (p.Gly54=)
c.636C>G (p.Gly212=)
c.609C>G (p.Gly203=)
c.759C>G (p.Gly253=)
22g.19764251C>TCA10102507TBX1c.162C>T (p.Gly54=)
c.636C>T (p.Gly212=)
c.609C>T (p.Gly203=)
c.759C>T (p.Gly253=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22g.19764252G>ACA10102508TBX1c.163G>A (p.Ala55Thr)
c.637G>A (p.Ala213Thr)
c.610G>A (p.Ala204Thr)
c.760G>A (p.Ala254Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764252G>CCA410682936TBX1c.163G>C (p.Ala55Pro)
c.637G>C (p.Ala213Pro)
c.610G>C (p.Ala204Pro)
c.760G>C (p.Ala254Pro)
 gnomAD v4
22g.19764252G=CA2396031082TBX1c.163G= (p.Ala55=)
c.637G= (p.Ala213=)
c.610G= (p.Ala204=)
c.760G= (p.Ala254=)
22g.19764252G>TCA410682937TBX1c.163G>T (p.Ala55Ser)
c.637G>T (p.Ala213Ser)
c.610G>T (p.Ala204Ser)
c.760G>T (p.Ala254Ser)
22g.19764253C>ACA410682941TBX1c.164C>A (p.Ala55Glu)
c.638C>A (p.Ala213Glu)
c.611C>A (p.Ala204Glu)
c.761C>A (p.Ala254Glu)
22g.19764253C=CA2396031083TBX1c.164C= (p.Ala55=)
c.638C= (p.Ala213=)
c.611C= (p.Ala204=)
c.761C= (p.Ala254=)
22g.19764253C>GCA410682939TBX1c.164C>G (p.Ala55Gly)
c.638C>G (p.Ala213Gly)
c.611C>G (p.Ala204Gly)
c.761C>G (p.Ala254Gly)
22g.19764253C>TCA10102509TBX1c.164C>T (p.Ala55Val)
c.638C>T (p.Ala213Val)
c.611C>T (p.Ala204Val)
c.761C>T (p.Ala254Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764254G>ACA10102511TBX1c.165G>A (p.Ala55=)
c.639G>A (p.Ala213=)
c.612G>A (p.Ala204=)
c.762G>A (p.Ala254=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.19764254G>CCA513361217TBX1c.165G>C (p.Ala55=)
c.639G>C (p.Ala213=)
c.612G>C (p.Ala204=)
c.762G>C (p.Ala254=)
 ClinVar dbSNP gnomAD v4
22g.19764254G=CA2396031084TBX1c.165G= (p.Ala55=)
c.639G= (p.Ala213=)
c.612G= (p.Ala204=)
c.762G= (p.Ala254=)
22g.19764254G>TCA10102510TBX1c.165G>T (p.Ala55=)
c.639G>T (p.Ala213=)
c.612G>T (p.Ala204=)
c.762G>T (p.Ala254=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764255C>ACA410682945TBX1c.166C>A (p.Gln56Lys)
c.640C>A (p.Gln214Lys)
c.613C>A (p.Gln205Lys)
c.763C>A (p.Gln255Lys)
22g.19764255C>GCA410682947TBX1c.166C>G (p.Gln56Glu)
c.640C>G (p.Gln214Glu)
c.613C>G (p.Gln205Glu)
c.763C>G (p.Gln255Glu)
22g.19764255C>TCA410682949TBX1c.166C>T (p.Gln56Ter)
c.640C>T (p.Gln214Ter)
c.613C>T (p.Gln205Ter)
c.763C>T (p.Gln255Ter)
22g.19764256A>CCA410682950TBX1c.167A>C (p.Gln56Pro)
c.641A>C (p.Gln214Pro)
c.614A>C (p.Gln205Pro)
c.764A>C (p.Gln255Pro)
22g.19764256A>GCA410682952TBX1c.167A>G (p.Gln56Arg)
c.641A>G (p.Gln214Arg)
c.614A>G (p.Gln205Arg)
c.764A>G (p.Gln255Arg)
 gnomAD v4
22g.19764256A>TCA410682954TBX1c.167A>T (p.Gln56Leu)
c.641A>T (p.Gln214Leu)
c.614A>T (p.Gln205Leu)
c.764A>T (p.Gln255Leu)
22g.19764257G>ACA513361218TBX1c.168G>A (p.Gln56=)
c.642G>A (p.Gln214=)
c.615G>A (p.Gln205=)
c.765G>A (p.Gln255=)
22g.19764257G>CCA410682956TBX1c.168G>C (p.Gln56His)
c.642G>C (p.Gln214His)
c.615G>C (p.Gln205His)
c.765G>C (p.Gln255His)
22g.19764257G>TCA410682959TBX1c.168G>T (p.Gln56His)
c.642G>T (p.Gln214His)
c.615G>T (p.Gln205His)
c.765G>T (p.Gln255His)
22g.19764258T>ACA410682960TBX1c.169T>A (p.Trp57Arg)
c.643T>A (p.Trp215Arg)
c.616T>A (p.Trp206Arg)
c.766T>A (p.Trp256Arg)
22g.19764258T>CCA410682962TBX1c.169T>C (p.Trp57Arg)
c.643T>C (p.Trp215Arg)
c.616T>C (p.Trp206Arg)
c.766T>C (p.Trp256Arg)
 COSMIC COSMIC COSMIC
22g.19764258T>GCA410682964TBX1c.169T>G (p.Trp57Gly)
c.643T>G (p.Trp215Gly)
c.616T>G (p.Trp206Gly)
c.766T>G (p.Trp256Gly)
22g.19764259G>ACA410682968TBX1c.170G>A (p.Trp57Ter)
c.644G>A (p.Trp215Ter)
c.617G>A (p.Trp206Ter)
c.767G>A (p.Trp256Ter)
22g.19764259G>CCA410682970TBX1c.170G>C (p.Trp57Ser)
c.644G>C (p.Trp215Ser)
c.617G>C (p.Trp206Ser)
c.767G>C (p.Trp256Ser)
22g.19764259G>TCA410682966TBX1c.170G>T (p.Trp57Leu)
c.644G>T (p.Trp215Leu)
c.617G>T (p.Trp206Leu)
c.767G>T (p.Trp256Leu)
22g.19764260dupCA2842821746TBX1c.171dup (p.Met58AspfsTer?)
c.645dup (p.Met216AspfsTer?)
c.618dup (p.Met207AspfsTer?)
c.768dup (p.Met257AspfsTer?)
22g.19764260G>ACA410682975TBX1c.171G>A (p.Trp57Ter)
c.645G>A (p.Trp215Ter)
c.618G>A (p.Trp206Ter)
c.768G>A (p.Trp256Ter)
22g.19764260G>CCA410682971TBX1c.171G>C (p.Trp57Cys)
c.645G>C (p.Trp215Cys)
c.618G>C (p.Trp206Cys)
c.768G>C (p.Trp256Cys)
22g.19764260G>TCA410682973TBX1c.171G>T (p.Trp57Cys)
c.645G>T (p.Trp215Cys)
c.618G>T (p.Trp206Cys)
c.768G>T (p.Trp256Cys)
22g.19764261A=CA2396031085TBX1c.172A= (p.Met58=)
c.646A= (p.Met216=)
c.619A= (p.Met207=)
c.769A= (p.Met257=)
22g.19764261A>CCA410682978TBX1c.172A>C (p.Met58Leu)
c.646A>C (p.Met216Leu)
c.619A>C (p.Met207Leu)
c.769A>C (p.Met257Leu)
22g.19764261A>GCA410682980TBX1c.172A>G (p.Met58Val)
c.646A>G (p.Met216Val)
c.619A>G (p.Met207Val)
c.769A>G (p.Met257Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.19764261A>TCA410682981TBX1c.172A>T (p.Met58Leu)
c.646A>T (p.Met216Leu)
c.619A>T (p.Met207Leu)
c.769A>T (p.Met257Leu)
 ClinVar
22g.19764262T>ACA410682984TBX1c.173T>A (p.Met58Lys)
c.647T>A (p.Met216Lys)
c.620T>A (p.Met207Lys)
c.770T>A (p.Met257Lys)
22g.19764262T>CCA410682986TBX1c.173T>C (p.Met58Thr)
c.647T>C (p.Met216Thr)
c.620T>C (p.Met207Thr)
c.770T>C (p.Met257Thr)
22g.19764262T>GCA410682988TBX1c.173T>G (p.Met58Arg)
c.647T>G (p.Met216Arg)
c.620T>G (p.Met207Arg)
c.770T>G (p.Met257Arg)
22g.19764263G>ACA410682990TBX1c.174G>A (p.Met58Ile)
c.648G>A (p.Met216Ile)
c.621G>A (p.Met207Ile)
c.771G>A (p.Met257Ile)
 gnomAD v4
22g.19764263G>CCA410682992TBX1c.174G>C (p.Met58Ile)
c.648G>C (p.Met216Ile)
c.621G>C (p.Met207Ile)
c.771G>C (p.Met257Ile)
22g.19764263G>TCA410682994TBX1c.174G>T (p.Met58Ile)
c.648G>T (p.Met216Ile)
c.621G>T (p.Met207Ile)
c.771G>T (p.Met257Ile)
22g.19764264A>CCA410683000TBX1c.175A>C (p.Lys59Gln)
c.649A>C (p.Lys217Gln)
c.622A>C (p.Lys208Gln)
c.772A>C (p.Lys258Gln)
 gnomAD v4
22g.19764264A>GCA410682998TBX1c.175A>G (p.Lys59Glu)
c.649A>G (p.Lys217Glu)
c.622A>G (p.Lys208Glu)
c.772A>G (p.Lys258Glu)
22g.19764264A>TCA410682996TBX1c.175A>T (p.Lys59Ter)
c.649A>T (p.Lys217Ter)
c.622A>T (p.Lys208Ter)
c.772A>T (p.Lys258Ter)
22g.19764265A=CA2396031086TBX1c.176A= (p.Lys59=)
c.650A= (p.Lys217=)
c.623A= (p.Lys208=)
c.773A= (p.Lys258=)
22g.19764265A>CCA410683002TBX1c.176A>C (p.Lys59Thr)
c.650A>C (p.Lys217Thr)
c.623A>C (p.Lys208Thr)
c.773A>C (p.Lys258Thr)
22g.19764265A>GCA410683004TBX1c.176A>G (p.Lys59Arg)
c.650A>G (p.Lys217Arg)
c.623A>G (p.Lys208Arg)
c.773A>G (p.Lys258Arg)
 dbSNP
22g.19764265A>TCA410683005TBX1c.176A>T (p.Lys59Met)
c.650A>T (p.Lys217Met)
c.623A>T (p.Lys208Met)
c.773A>T (p.Lys258Met)
22g.19764266G>ACA513361219TBX1c.177G>A (p.Lys59=)
c.651G>A (p.Lys217=)
c.624G>A (p.Lys208=)
c.774G>A (p.Lys258=)
22g.19764266G>CCA410683007TBX1c.177G>C (p.Lys59Asn)
c.651G>C (p.Lys217Asn)
c.624G>C (p.Lys208Asn)
c.774G>C (p.Lys258Asn)
22g.19764266G>TCA410683009TBX1c.177G>T (p.Lys59Asn)
c.651G>T (p.Lys217Asn)
c.624G>T (p.Lys208Asn)
c.774G>T (p.Lys258Asn)
22g.19764266_19764267delinsGCCA2396031087TBX1c.177_178delinsGC (p.Lys59=)
c.651_652delinsGC (p.Lys217=)
c.624_625delinsGC (p.Lys208=)
c.774_775delinsGC (p.Lys258=)
22g.19764267delCA1139666951TBX1c.178del (p.Gln60LysfsTer10)
c.652del (p.Gln218LysfsTer10)
c.625del (p.Gln209LysfsTer10)
c.775del (p.Gln259LysfsTer10)
 ClinVar dbSNP
22g.19764267C>ACA410683012TBX1c.178C>A (p.Gln60Lys)
c.652C>A (p.Gln218Lys)
c.625C>A (p.Gln209Lys)
c.775C>A (p.Gln259Lys)
22g.19764267C=CA2396031088TBX1c.178C= (p.Gln60=)
c.652C= (p.Gln218=)
c.625C= (p.Gln209=)
c.775C= (p.Gln259=)
22g.19764267C>GCA410683013TBX1c.178C>G (p.Gln60Glu)
c.652C>G (p.Gln218Glu)
c.625C>G (p.Gln209Glu)
c.775C>G (p.Gln259Glu)
 ClinVar dbSNP gnomAD v4
22g.19764267C>TCA410683015TBX1c.178C>T (p.Gln60Ter)
c.652C>T (p.Gln218Ter)
c.625C>T (p.Gln209Ter)
c.775C>T (p.Gln259Ter)
22g.19764268A>CCA410683017TBX1c.179A>C (p.Gln60Pro)
c.653A>C (p.Gln218Pro)
c.626A>C (p.Gln209Pro)
c.776A>C (p.Gln259Pro)
22g.19764268A>GCA410683019TBX1c.179A>G (p.Gln60Arg)
c.653A>G (p.Gln218Arg)
c.626A>G (p.Gln209Arg)
c.776A>G (p.Gln259Arg)
22g.19764268A>TCA410683020TBX1c.179A>T (p.Gln60Leu)
c.653A>T (p.Gln218Leu)
c.626A>T (p.Gln209Leu)
c.776A>T (p.Gln259Leu)
22g.19764269A>CCA410683022TBX1c.180A>C (p.Gln60His)
c.654A>C (p.Gln218His)
c.627A>C (p.Gln209His)
c.777A>C (p.Gln259His)
22g.19764269A>GCA513361220TBX1c.180A>G (p.Gln60=)
c.654A>G (p.Gln218=)
c.627A>G (p.Gln209=)
c.777A>G (p.Gln259=)
 ClinVar dbSNP
22g.19764269A>TCA410683025TBX1c.180A>T (p.Gln60His)
c.654A>T (p.Gln218His)
c.627A>T (p.Gln209His)
c.777A>T (p.Gln259His)
22g.19764270A=CA2396031089TBX1c.181A= (p.Ile61=)
c.655A= (p.Ile219=)
c.628A= (p.Ile210=)
c.778A= (p.Ile260=)
22g.19764270A>CCA410683028TBX1c.181A>C (p.Ile61Leu)
c.655A>C (p.Ile219Leu)
c.628A>C (p.Ile210Leu)
c.778A>C (p.Ile260Leu)
22g.19764270A>GCA410683029TBX1c.181A>G (p.Ile61Val)
c.655A>G (p.Ile219Val)
c.628A>G (p.Ile210Val)
c.778A>G (p.Ile260Val)
 dbSNP gnomAD v2 gnomAD v4
22g.19764270A>TCA410683026TBX1c.181A>T (p.Ile61Phe)
c.655A>T (p.Ile219Phe)
c.628A>T (p.Ile210Phe)
c.778A>T (p.Ile260Phe)
22g.19764271T>ACA410683031TBX1c.182T>A (p.Ile61Asn)
c.656T>A (p.Ile219Asn)
c.629T>A (p.Ile210Asn)
c.779T>A (p.Ile260Asn)
22g.19764271T>CCA410683033TBX1c.182T>C (p.Ile61Thr)
c.656T>C (p.Ile219Thr)
c.629T>C (p.Ile210Thr)
c.779T>C (p.Ile260Thr)
22g.19764271T>GCA410683035TBX1c.182T>G (p.Ile61Ser)
c.656T>G (p.Ile219Ser)
c.629T>G (p.Ile210Ser)
c.779T>G (p.Ile260Ser)
22g.19764272C>ACA10102512TBX1c.183C>A (p.Ile61=)
c.657C>A (p.Ile219=)
c.630C>A (p.Ile210=)
c.780C>A (p.Ile260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764272C=CA2396031090TBX1c.183C= (p.Ile61=)
c.657C= (p.Ile219=)
c.630C= (p.Ile210=)
c.780C= (p.Ile260=)
22g.19764272C>GCA410683038TBX1c.183C>G (p.Ile61Met)
c.657C>G (p.Ile219Met)
c.630C>G (p.Ile210Met)
c.780C>G (p.Ile260Met)
22g.19764272C>TCA10102513TBX1c.183C>T (p.Ile61=)
c.657C>T (p.Ile219=)
c.630C>T (p.Ile210=)
c.780C>T (p.Ile260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764273G>ACA10102514TBX1c.184G>A (p.Val62Met)
c.658G>A (p.Val220Met)
c.631G>A (p.Val211Met)
c.781G>A (p.Val261Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22g.19764273G>CCA410683040TBX1c.184G>C (p.Val62Leu)
c.658G>C (p.Val220Leu)
c.631G>C (p.Val211Leu)
c.781G>C (p.Val261Leu)
22g.19764273G=CA2396031091TBX1c.184G= (p.Val62=)
c.658G= (p.Val220=)
c.631G= (p.Val211=)
c.781G= (p.Val261=)
22g.19764273G>TCA410683041TBX1c.184G>T (p.Val62Leu)
c.658G>T (p.Val220Leu)
c.631G>T (p.Val211Leu)
c.781G>T (p.Val261Leu)
22g.19764274T>ACA410683044TBX1c.185T>A (p.Val62Glu)
c.659T>A (p.Val220Glu)
c.632T>A (p.Val211Glu)
c.782T>A (p.Val261Glu)
22g.19764274T>CCA410683046TBX1c.185T>C (p.Val62Ala)
c.659T>C (p.Val220Ala)
c.632T>C (p.Val211Ala)
c.782T>C (p.Val261Ala)
22g.19764274T>GCA410683048TBX1c.185T>G (p.Val62Gly)
c.659T>G (p.Val220Gly)
c.632T>G (p.Val211Gly)
c.782T>G (p.Val261Gly)
22g.19764275G>ACA10102515TBX1c.186G>A (p.Val62=)
c.660G>A (p.Val220=)
c.633G>A (p.Val211=)
c.783G>A (p.Val261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764275G>CCA513361221TBX1c.186G>C (p.Val62=)
c.660G>C (p.Val220=)
c.633G>C (p.Val211=)
c.783G>C (p.Val261=)
22g.19764275G=CA2396031092TBX1c.186G= (p.Val62=)
c.660G= (p.Val220=)
c.633G= (p.Val211=)
c.783G= (p.Val261=)
22g.19764275G>TCA513361222TBX1c.186G>T (p.Val62=)
c.660G>T (p.Val220=)
c.633G>T (p.Val211=)
c.783G>T (p.Val261=)
22g.19764276T>ACA410683054TBX1c.187T>A (p.Ser63Thr)
c.661T>A (p.Ser221Thr)
c.634T>A (p.Ser212Thr)
c.784T>A (p.Ser262Thr)
22g.19764276T>CCA410683055TBX1c.187T>C (p.Ser63Pro)
c.661T>C (p.Ser221Pro)
c.634T>C (p.Ser212Pro)
c.784T>C (p.Ser262Pro)
22g.19764276T>GCA410683052TBX1c.187T>G (p.Ser63Ala)
c.661T>G (p.Ser221Ala)
c.634T>G (p.Ser212Ala)
c.784T>G (p.Ser262Ala)
22g.19764277C>ACA410683058TBX1c.188C>A (p.Ser63Tyr)
c.662C>A (p.Ser221Tyr)
c.635C>A (p.Ser212Tyr)
c.785C>A (p.Ser262Tyr)
22g.19764277C>GCA410683060TBX1c.188C>G (p.Ser63Cys)
c.662C>G (p.Ser221Cys)
c.635C>G (p.Ser212Cys)
c.785C>G (p.Ser262Cys)
22g.19764277C>TCA410683061TBX1c.188C>T (p.Ser63Phe)
c.662C>T (p.Ser221Phe)
c.635C>T (p.Ser212Phe)
c.785C>T (p.Ser262Phe)
 gnomAD v4
22g.19764278C>ACA513361223TBX1c.189C>A (p.Ser63=)
c.663C>A (p.Ser221=)
c.636C>A (p.Ser212=)
c.786C>A (p.Ser262=)
 COSMIC COSMIC COSMIC
22g.19764278C=CA2396031093TBX1c.189C= (p.Ser63=)
c.663C= (p.Ser221=)
c.636C= (p.Ser212=)
c.786C= (p.Ser262=)
22g.19764278C>GCA513361224TBX1c.189C>G (p.Ser63=)
c.663C>G (p.Ser221=)
c.636C>G (p.Ser212=)
c.786C>G (p.Ser262=)
22g.19764278C>TCA513361225TBX1c.189C>T (p.Ser63=)
c.663C>T (p.Ser221=)
c.636C>T (p.Ser212=)
c.786C>T (p.Ser262=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19764279T>ACA410683064TBX1c.190T>A (p.Phe64Ile)
c.664T>A (p.Phe222Ile)
c.637T>A (p.Phe213Ile)
c.787T>A (p.Phe263Ile)
22g.19764279T>CCA410683066TBX1c.190T>C (p.Phe64Leu)
c.664T>C (p.Phe222Leu)
c.637T>C (p.Phe213Leu)
c.787T>C (p.Phe263Leu)
22g.19764279T>GCA410683067TBX1c.190T>G (p.Phe64Val)
c.664T>G (p.Phe222Val)
c.637T>G (p.Phe213Val)
c.787T>G (p.Phe263Val)
22g.19764280T>ACA410683073TBX1c.191T>A (p.Phe64Tyr)
c.665T>A (p.Phe222Tyr)
c.638T>A (p.Phe213Tyr)
c.788T>A (p.Phe263Tyr)
22g.19764280T>CCA410683070TBX1c.191T>C (p.Phe64Ser)
c.665T>C (p.Phe222Ser)
c.638T>C (p.Phe213Ser)
c.788T>C (p.Phe263Ser)
22g.19764280T>GCA410683072TBX1c.191T>G (p.Phe64Cys)
c.665T>G (p.Phe222Cys)
c.638T>G (p.Phe213Cys)
c.788T>G (p.Phe263Cys)
22g.19764281C>ACA410683075TBX1c.192C>A (p.Phe64Leu)
c.666C>A (p.Phe222Leu)
c.639C>A (p.Phe213Leu)
c.789C>A (p.Phe263Leu)
 dbSNP
22g.19764281C=CA2396031094TBX1c.192C= (p.Phe64=)
c.666C= (p.Phe222=)
c.639C= (p.Phe213=)
c.789C= (p.Phe263=)
22g.19764281C>GCA410683077TBX1c.192C>G (p.Phe64Leu)
c.666C>G (p.Phe222Leu)
c.639C>G (p.Phe213Leu)
c.789C>G (p.Phe263Leu)
 dbSNP gnomAD v3 gnomAD v4
22g.19764281C>TCA10102516TBX1c.192C>T (p.Phe64=)
c.666C>T (p.Phe222=)
c.639C>T (p.Phe213=)
c.789C>T (p.Phe263=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22g.19764282G>ACA410683080TBX1c.193G>A (p.Asp65Asn)
c.667G>A (p.Asp223Asn)
c.640G>A (p.Asp214Asn)
c.790G>A (p.Asp264Asn)
 ClinVar dbSNP gnomAD v4
22g.19764282G>CCA410683082TBX1c.193G>C (p.Asp65His)
c.667G>C (p.Asp223His)
c.640G>C (p.Asp214His)
c.790G>C (p.Asp264His)
 gnomAD v4
22g.19764282G>TCA410683084TBX1c.193G>T (p.Asp65Tyr)
c.667G>T (p.Asp223Tyr)
c.640G>T (p.Asp214Tyr)
c.790G>T (p.Asp264Tyr)
 gnomAD v4
22g.19764283A>CCA410683087TBX1c.194A>C (p.Asp65Ala)
c.668A>C (p.Asp223Ala)
c.641A>C (p.Asp214Ala)
c.791A>C (p.Asp264Ala)
22g.19764283A>GCA410683089TBX1c.194A>G (p.Asp65Gly)
c.668A>G (p.Asp223Gly)
c.641A>G (p.Asp214Gly)
c.791A>G (p.Asp264Gly)
22g.19764283A>TCA410683086TBX1c.194A>T (p.Asp65Val)
c.668A>T (p.Asp223Val)
c.641A>T (p.Asp214Val)
c.791A>T (p.Asp264Val)
22g.19764283dupCA2838196518TBX1c.194dup (p.Asp65GlufsTer?)
c.668dup (p.Asp223GlufsTer?)
c.641dup (p.Asp214GlufsTer?)
c.791dup (p.Asp264GlufsTer?)
22g.19764284C>ACA410683093TBX1c.195C>A (p.Asp65Glu)
c.669C>A (p.Asp223Glu)
c.642C>A (p.Asp214Glu)
c.792C>A (p.Asp264Glu)
 gnomAD v4
22g.19764284C=CA2396031095TBX1c.195C= (p.Asp65=)
c.669C= (p.Asp223=)
c.642C= (p.Asp214=)
c.792C= (p.Asp264=)
22g.19764284C>GCA410683091TBX1c.195C>G (p.Asp65Glu)
c.669C>G (p.Asp223Glu)
c.642C>G (p.Asp214Glu)
c.792C>G (p.Asp264Glu)
22g.19764284C>TCA10102517TBX1c.195C>T (p.Asp65=)
c.669C>T (p.Asp223=)
c.642C>T (p.Asp214=)
c.792C>T (p.Asp264=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764284dupCA2838208354TBX1c.195dup (p.Lys66GlnfsTer?)
c.669dup (p.Lys224GlnfsTer?)
c.642dup (p.Lys215GlnfsTer?)
c.792dup (p.Lys265GlnfsTer?)
22g.19764290_19764295dupCA2542708126TBX1c.201_206dup (p.Leu69_Thr70insLysLeu)
c.675_680dup (p.Leu227_Thr228insLysLeu)
c.648_653dup (p.Leu218_Thr219insLysLeu)
c.798_803dup (p.Leu268_Thr269insLysLeu)
22g.19764285A>CCA410683096TBX1c.196A>C (p.Lys66Gln)
c.670A>C (p.Lys224Gln)
c.643A>C (p.Lys215Gln)
c.793A>C (p.Lys265Gln)
22g.19764285A>GCA410683098TBX1c.196A>G (p.Lys66Glu)
c.670A>G (p.Lys224Glu)
c.643A>G (p.Lys215Glu)
c.793A>G (p.Lys265Glu)
22g.19764285A>TCA410683097TBX1c.196A>T (p.Lys66Ter)
c.670A>T (p.Lys224Ter)
c.643A>T (p.Lys215Ter)
c.793A>T (p.Lys265Ter)
22g.19764286A>CCA410683101TBX1c.197A>C (p.Lys66Thr)
c.671A>C (p.Lys224Thr)
c.644A>C (p.Lys215Thr)
c.794A>C (p.Lys265Thr)
22g.19764286A>GCA410683103TBX1c.197A>G (p.Lys66Arg)
c.671A>G (p.Lys224Arg)
c.644A>G (p.Lys215Arg)
c.794A>G (p.Lys265Arg)
22g.19764286A>TCA410683104TBX1c.197A>T (p.Lys66Met)
c.671A>T (p.Lys224Met)
c.644A>T (p.Lys215Met)
c.794A>T (p.Lys265Met)
22g.19764287G>ACA10102518TBX1c.198G>A (p.Lys66=)
c.672G>A (p.Lys224=)
c.645G>A (p.Lys215=)
c.795G>A (p.Lys265=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764287G>CCA410683108TBX1c.198G>C (p.Lys66Asn)
c.672G>C (p.Lys224Asn)
c.645G>C (p.Lys215Asn)
c.795G>C (p.Lys265Asn)
22g.19764287G=CA2396031096TBX1c.198G= (p.Lys66=)
c.672G= (p.Lys224=)
c.645G= (p.Lys215=)
c.795G= (p.Lys265=)
22g.19764287G>TCA410683109TBX1c.198G>T (p.Lys66Asn)
c.672G>T (p.Lys224Asn)
c.645G>T (p.Lys215Asn)
c.795G>T (p.Lys265Asn)
22g.19764288C>ACA410683110TBX1c.199C>A (p.Leu67Ile)
c.673C>A (p.Leu225Ile)
c.646C>A (p.Leu216Ile)
c.796C>A (p.Leu266Ile)
22g.19764288C>GCA410683111TBX1c.199C>G (p.Leu67Val)
c.673C>G (p.Leu225Val)
c.646C>G (p.Leu216Val)
c.796C>G (p.Leu266Val)
22g.19764288C>TCA410683112TBX1c.199C>T (p.Leu67Phe)
c.673C>T (p.Leu225Phe)
c.646C>T (p.Leu216Phe)
c.796C>T (p.Leu266Phe)
22g.19764289T>ACA410683113TBX1c.200T>A (p.Leu67His)
c.674T>A (p.Leu225His)
c.647T>A (p.Leu216His)
c.797T>A (p.Leu266His)
22g.19764289T>CCA410683114TBX1c.200T>C (p.Leu67Pro)
c.674T>C (p.Leu225Pro)
c.647T>C (p.Leu216Pro)
c.797T>C (p.Leu266Pro)
22g.19764289T>GCA410683115TBX1c.200T>G (p.Leu67Arg)
c.674T>G (p.Leu225Arg)
c.647T>G (p.Leu216Arg)
c.797T>G (p.Leu266Arg)
22g.19764290C>ACA513361226TBX1c.201C>A (p.Leu67=)
c.675C>A (p.Leu225=)
c.648C>A (p.Leu216=)
c.798C>A (p.Leu266=)
22g.19764290C=CA2396031097TBX1c.201C= (p.Leu67=)
c.675C= (p.Leu225=)
c.648C= (p.Leu216=)
c.798C= (p.Leu266=)
22g.19764290C>GCA513361227TBX1c.201C>G (p.Leu67=)
c.675C>G (p.Leu225=)
c.648C>G (p.Leu216=)
c.798C>G (p.Leu266=)
22g.19764290C>TCA513361228TBX1c.201C>T (p.Leu67=)
c.675C>T (p.Leu225=)
c.648C>T (p.Leu216=)
c.798C>T (p.Leu266=)
 dbSNP gnomAD v2
22g.19764291A=CA2396031098TBX1c.202A= (p.Lys68=)
c.676A= (p.Lys226=)
c.649A= (p.Lys217=)
c.799A= (p.Lys267=)
22g.19764291A>CCA410683116TBX1c.202A>C (p.Lys68Gln)
c.676A>C (p.Lys226Gln)
c.649A>C (p.Lys217Gln)
c.799A>C (p.Lys267Gln)
 gnomAD v4
22g.19764291A>GCA410683118TBX1c.202A>G (p.Lys68Glu)
c.676A>G (p.Lys226Glu)
c.649A>G (p.Lys217Glu)
c.799A>G (p.Lys267Glu)
 dbSNP gnomAD v3 gnomAD v4
22g.19764291A>TCA410683117TBX1c.202A>T (p.Lys68Ter)
c.676A>T (p.Lys226Ter)
c.649A>T (p.Lys217Ter)
c.799A>T (p.Lys267Ter)
22g.19764292A>CCA410683119TBX1c.203A>C (p.Lys68Thr)
c.677A>C (p.Lys226Thr)
c.650A>C (p.Lys217Thr)
c.800A>C (p.Lys267Thr)
22g.19764292A>GCA410683120TBX1c.203A>G (p.Lys68Arg)
c.677A>G (p.Lys226Arg)
c.650A>G (p.Lys217Arg)
c.800A>G (p.Lys267Arg)
22g.19764292A>TCA410683121TBX1c.203A>T (p.Lys68Met)
c.677A>T (p.Lys226Met)
c.650A>T (p.Lys217Met)
c.800A>T (p.Lys267Met)
22g.19764293G>ACA513361229TBX1c.204G>A (p.Lys68=)
c.678G>A (p.Lys226=)
c.651G>A (p.Lys217=)
c.801G>A (p.Lys267=)
22g.19764293G>CCA410683122TBX1c.204G>C (p.Lys68Asn)
c.678G>C (p.Lys226Asn)
c.651G>C (p.Lys217Asn)
c.801G>C (p.Lys267Asn)
22g.19764293G>TCA410683123TBX1c.204G>T (p.Lys68Asn)
c.678G>T (p.Lys226Asn)
c.651G>T (p.Lys217Asn)
c.801G>T (p.Lys267Asn)
22g.19764294C>ACA410683124TBX1c.205C>A (p.Leu69Met)
c.679C>A (p.Leu227Met)
c.652C>A (p.Leu218Met)
c.802C>A (p.Leu268Met)
22g.19764294C=CA2396031099TBX1c.205C= (p.Leu69=)
c.679C= (p.Leu227=)
c.652C= (p.Leu218=)
c.802C= (p.Leu268=)
22g.19764294C>GCA410683125TBX1c.205C>G (p.Leu69Val)
c.679C>G (p.Leu227Val)
c.652C>G (p.Leu218Val)
c.802C>G (p.Leu268Val)
22g.19764294C>TCA513361230TBX1c.205C>T (p.Leu69=)
c.679C>T (p.Leu227=)
c.652C>T (p.Leu218=)
c.802C>T (p.Leu268=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.19764295T>ACA410683126TBX1c.206T>A (p.Leu69Gln)
c.680T>A (p.Leu227Gln)
c.653T>A (p.Leu218Gln)
c.803T>A (p.Leu268Gln)
22g.19764295T>CCA410683127TBX1c.206T>C (p.Leu69Pro)
c.680T>C (p.Leu227Pro)
c.653T>C (p.Leu218Pro)
c.803T>C (p.Leu268Pro)
22g.19764295T>GCA410683128TBX1c.206T>G (p.Leu69Arg)
c.680T>G (p.Leu227Arg)
c.653T>G (p.Leu218Arg)
c.803T>G (p.Leu268Arg)
22g.19764296G>ACA513361231TBX1c.207G>A (p.Leu69=)
c.681G>A (p.Leu227=)
c.654G>A (p.Leu218=)
c.804G>A (p.Leu268=)
22g.19764296G>CCA513361232TBX1c.207G>C (p.Leu69=)
c.681G>C (p.Leu227=)
c.654G>C (p.Leu218=)
c.804G>C (p.Leu268=)
22g.19764296G>TCA513361233TBX1c.207G>T (p.Leu69=)
c.681G>T (p.Leu227=)
c.654G>T (p.Leu218=)
c.804G>T (p.Leu268=)
22g.19764297A>CCA410683130TBX1c.208A>C (p.Thr70Pro)
c.682A>C (p.Thr228Pro)
c.655A>C (p.Thr219Pro)
c.805A>C (p.Thr269Pro)
22g.19764297A>GCA410683131TBX1c.208A>G (p.Thr70Ala)
c.682A>G (p.Thr228Ala)
c.655A>G (p.Thr219Ala)
c.805A>G (p.Thr269Ala)
22g.19764297A>TCA410683129TBX1c.208A>T (p.Thr70Ser)
c.682A>T (p.Thr228Ser)
c.655A>T (p.Thr219Ser)
c.805A>T (p.Thr269Ser)
22g.19764298C>ACA410683132TBX1c.209C>A (p.Thr70Asn)
c.683C>A (p.Thr228Asn)
c.656C>A (p.Thr219Asn)
c.806C>A (p.Thr269Asn)
22g.19764298C=CA2396031100TBX1c.209C= (p.Thr70=)
c.683C= (p.Thr228=)
c.656C= (p.Thr219=)
c.806C= (p.Thr269=)
22g.19764298C>GCA410683133TBX1c.209C>G (p.Thr70Ser)
c.683C>G (p.Thr228Ser)
c.656C>G (p.Thr219Ser)
c.806C>G (p.Thr269Ser)
 ClinVar dbSNP
22g.19764298C>TCA410683134TBX1c.209C>T (p.Thr70Ile)
c.683C>T (p.Thr228Ile)
c.656C>T (p.Thr219Ile)
c.806C>T (p.Thr269Ile)
22g.19764299C>ACA10102519TBX1c.210C>A (p.Thr70=)
c.684C>A (p.Thr228=)
c.657C>A (p.Thr219=)
c.807C>A (p.Thr269=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764299C=CA2396031101TBX1c.210C= (p.Thr70=)
c.684C= (p.Thr228=)
c.657C= (p.Thr219=)
c.807C= (p.Thr269=)
22g.19764299C>GCA513361235TBX1c.210C>G (p.Thr70=)
c.684C>G (p.Thr228=)
c.657C>G (p.Thr219=)
c.807C>G (p.Thr269=)
22g.19764299C>TCA513361236TBX1c.210C>T (p.Thr70=)
c.684C>T (p.Thr228=)
c.657C>T (p.Thr219=)
c.807C>T (p.Thr269=)
22g.19764300A>CCA410683135TBX1c.211A>C (p.Asn71His)
c.685A>C (p.Asn229His)
c.658A>C (p.Asn220His)
c.808A>C (p.Asn270His)
 gnomAD v4
22g.19764300A>GCA410683136TBX1c.211A>G (p.Asn71Asp)
c.685A>G (p.Asn229Asp)
c.658A>G (p.Asn220Asp)
c.808A>G (p.Asn270Asp)
22g.19764300A>TCA410683137TBX1c.211A>T (p.Asn71Tyr)
c.685A>T (p.Asn229Tyr)
c.658A>T (p.Asn220Tyr)
c.808A>T (p.Asn270Tyr)
22g.19764301A>CCA410683138TBX1c.212A>C (p.Asn71Thr)
c.686A>C (p.Asn229Thr)
c.659A>C (p.Asn220Thr)
c.809A>C (p.Asn270Thr)
22g.19764301A>GCA410683139TBX1c.212A>G (p.Asn71Ser)
c.686A>G (p.Asn229Ser)
c.659A>G (p.Asn220Ser)
c.809A>G (p.Asn270Ser)
22g.19764301A>TCA410683140TBX1c.212A>T (p.Asn71Ile)
c.686A>T (p.Asn229Ile)
c.659A>T (p.Asn220Ile)
c.809A>T (p.Asn270Ile)
22g.19764302C>ACA410683141TBX1c.213C>A (p.Asn71Lys)
c.687C>A (p.Asn229Lys)
c.660C>A (p.Asn220Lys)
c.810C>A (p.Asn270Lys)
22g.19764302C>GCA410683142TBX1c.213C>G (p.Asn71Lys)
c.687C>G (p.Asn229Lys)
c.660C>G (p.Asn220Lys)
c.810C>G (p.Asn270Lys)
22g.19764302C>TCA513361237TBX1c.213C>T (p.Asn71=)
c.687C>T (p.Asn229=)
c.660C>T (p.Asn220=)
c.810C>T (p.Asn270=)
 gnomAD v4
22g.19764303A>CCA410683144TBX1c.214A>C (p.Asn72His)
c.688A>C (p.Asn230His)
c.661A>C (p.Asn221His)
c.811A>C (p.Asn271His)
22g.19764303A>GCA410683145TBX1c.214A>G (p.Asn72Asp)
c.688A>G (p.Asn230Asp)
c.661A>G (p.Asn221Asp)
c.811A>G (p.Asn271Asp)
 gnomAD v4
22g.19764303A>TCA410683143TBX1c.214A>T (p.Asn72Tyr)
c.688A>T (p.Asn230Tyr)
c.661A>T (p.Asn221Tyr)
c.811A>T (p.Asn271Tyr)
22g.19764304A>CCA410683146TBX1c.215A>C (p.Asn72Thr)
c.689A>C (p.Asn230Thr)
c.662A>C (p.Asn221Thr)
c.812A>C (p.Asn271Thr)
22g.19764304A>GCA410683147TBX1c.215A>G (p.Asn72Ser)
c.689A>G (p.Asn230Ser)
c.662A>G (p.Asn221Ser)
c.812A>G (p.Asn271Ser)
22g.19764304A>TCA410683148TBX1c.215A>T (p.Asn72Ile)
c.689A>T (p.Asn230Ile)
c.662A>T (p.Asn221Ile)
c.812A>T (p.Asn271Ile)
22g.19764305C>ACA10102520TBX1c.216C>A (p.Asn72Lys)
c.690C>A (p.Asn230Lys)
c.663C>A (p.Asn221Lys)
c.813C>A (p.Asn271Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764305C=CA2396031102TBX1c.216C= (p.Asn72=)
c.690C= (p.Asn230=)
c.663C= (p.Asn221=)
c.813C= (p.Asn271=)
22g.19764305C>GCA410683149TBX1c.216C>G (p.Asn72Lys)
c.690C>G (p.Asn230Lys)
c.663C>G (p.Asn221Lys)
c.813C>G (p.Asn271Lys)
22g.19764305C>TCA513361238TBX1c.216C>T (p.Asn72=)
c.690C>T (p.Asn230=)
c.663C>T (p.Asn221=)
c.813C>T (p.Asn271=)
22g.19764306C>ACA410683151TBX1c.217C>A (p.Leu73Ile)
c.691C>A (p.Leu231Ile)
c.664C>A (p.Leu222Ile)
c.814C>A (p.Leu272Ile)
22g.19764306C=CA2396031103TBX1c.217C= (p.Leu73=)
c.691C= (p.Leu231=)
c.664C= (p.Leu222=)
c.814C= (p.Leu272=)
22g.19764306C>GCA410683150TBX1c.217C>G (p.Leu73Val)
c.691C>G (p.Leu231Val)
c.664C>G (p.Leu222Val)
c.814C>G (p.Leu272Val)
22g.19764306C>TCA10102521TBX1c.217C>T (p.Leu73=)
c.691C>T (p.Leu231=)
c.664C>T (p.Leu222=)
c.814C>T (p.Leu272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764307T>ACA410683152TBX1c.218T>A (p.Leu73Gln)
c.692T>A (p.Leu231Gln)
c.665T>A (p.Leu222Gln)
c.815T>A (p.Leu272Gln)
22g.19764307T>CCA410683153TBX1c.218T>C (p.Leu73Pro)
c.692T>C (p.Leu231Pro)
c.665T>C (p.Leu222Pro)
c.815T>C (p.Leu272Pro)
22g.19764307T>GCA410683154TBX1c.218T>G (p.Leu73Arg)
c.692T>G (p.Leu231Arg)
c.665T>G (p.Leu222Arg)
c.815T>G (p.Leu272Arg)
22g.19764308A>CCA513361239TBX1c.219A>C (p.Leu73=)
c.693A>C (p.Leu231=)
c.666A>C (p.Leu222=)
c.816A>C (p.Leu272=)
 gnomAD v4
22g.19764308A>GCA513361240TBX1c.219A>G (p.Leu73=)
c.693A>G (p.Leu231=)
c.666A>G (p.Leu222=)
c.816A>G (p.Leu272=)
22g.19764308A>TCA513361241TBX1c.219A>T (p.Leu73=)
c.693A>T (p.Leu231=)
c.666A>T (p.Leu222=)
c.816A>T (p.Leu272=)
22g.19764308dupCA2838226820TBX1c.219dup (p.Leu74ThrfsTer30)
c.693dup (p.Leu232ThrfsTer30)
c.666dup (p.Leu223ThrfsTer?)
c.666dup (p.Leu223ThrfsTer30)
c.816dup (p.Leu273ThrfsTer30)
22g.19764309C>ACA410683155TBX1c.220C>A (p.Leu74Met)
c.694C>A (p.Leu232Met)
c.667C>A (p.Leu223Met)
c.817C>A (p.Leu273Met)
 gnomAD v4
22g.19764309C>GCA410683156TBX1c.220C>G (p.Leu74Val)
c.694C>G (p.Leu232Val)
c.667C>G (p.Leu223Val)
c.817C>G (p.Leu273Val)
22g.19764309C>TCA513361242TBX1c.220C>T (p.Leu74=)
c.694C>T (p.Leu232=)
c.667C>T (p.Leu223=)
c.817C>T (p.Leu273=)
22g.19764310T>ACA410683159TBX1c.221T>A (p.Leu74Gln)
c.695T>A (p.Leu232Gln)
c.668T>A (p.Leu223Gln)
c.818T>A (p.Leu273Gln)
 gnomAD v4
22g.19764310T>CCA410683158TBX1c.221T>C (p.Leu74Pro)
c.695T>C (p.Leu232Pro)
c.668T>C (p.Leu223Pro)
c.818T>C (p.Leu273Pro)
 gnomAD v4
22g.19764310T>GCA410683157TBX1c.221T>G (p.Leu74Arg)
c.695T>G (p.Leu232Arg)
c.668T>G (p.Leu223Arg)
c.818T>G (p.Leu273Arg)
22g.19764311G>ACA10102522TBX1c.222G>A (p.Leu74=)
c.696G>A (p.Leu232=)
c.669G>A (p.Leu223=)
c.819G>A (p.Leu273=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764311G>CCA513361243TBX1c.222G>C (p.Leu74=)
c.696G>C (p.Leu232=)
c.669G>C (p.Leu223=)
c.819G>C (p.Leu273=)
22g.19764311G=CA2396031104TBX1c.222G= (p.Leu74=)
c.696G= (p.Leu232=)
c.669G= (p.Leu223=)
c.819G= (p.Leu273=)
22g.19764311G>TCA513361244TBX1c.222G>T (p.Leu74=)
c.696G>T (p.Leu232=)
c.669G>T (p.Leu223=)
c.819G>T (p.Leu273=)
 gnomAD v4
22g.19764312G>ACA410683160TBX1c.223G>A (p.Asp75Asn)
c.697G>A (p.Asp233Asn)
c.670G>A (p.Asp224Asn)
c.820G>A (p.Asp274Asn)
22g.19764312G>CCA410683161TBX1c.223G>C (p.Asp75His)
c.697G>C (p.Asp233His)
c.670G>C (p.Asp224His)
c.820G>C (p.Asp274His)
22g.19764312G>TCA410683162TBX1c.223G>T (p.Asp75Tyr)
c.697G>T (p.Asp233Tyr)
c.670G>T (p.Asp224Tyr)
c.820G>T (p.Asp274Tyr)
22g.19764313A>CCA410683163TBX1c.224A>C (p.Asp75Ala)
c.698A>C (p.Asp233Ala)
c.671A>C (p.Asp224Ala)
c.821A>C (p.Asp274Ala)
22g.19764313A>GCA410683164TBX1c.224A>G (p.Asp75Gly)
c.698A>G (p.Asp233Gly)
c.671A>G (p.Asp224Gly)
c.821A>G (p.Asp274Gly)
22g.19764313A>TCA410683165TBX1c.224A>T (p.Asp75Val)
c.698A>T (p.Asp233Val)
c.671A>T (p.Asp224Val)
c.821A>T (p.Asp274Val)
22g.19764314C>ACA410683166TBX1c.225C>A (p.Asp75Glu)
c.699C>A (p.Asp233Glu)
c.672C>A (p.Asp224Glu)
c.822C>A (p.Asp274Glu)
 COSMIC COSMIC COSMIC
22g.19764314C=CA2396031105TBX1c.225C= (p.Asp75=)
c.699C= (p.Asp233=)
c.672C= (p.Asp224=)
c.822C= (p.Asp274=)
22g.19764314C>GCA410683167TBX1c.225C>G (p.Asp75Glu)
c.699C>G (p.Asp233Glu)
c.672C>G (p.Asp224Glu)
c.822C>G (p.Asp274Glu)
22g.19764314C>TCA10102523TBX1c.225C>T (p.Asp75=)
c.699C>T (p.Asp233=)
c.672C>T (p.Asp224=)
c.822C>T (p.Asp274=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22g.19764315G>ACA10102524TBX1c.226G>A (p.Asp76Asn)
c.700G>A (p.Asp234Asn)
c.673G>A (p.Asp225Asn)
c.823G>A (p.Asp275Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764315G>CCA410683168TBX1c.226G>C (p.Asp76His)
c.700G>C (p.Asp234His)
c.673G>C (p.Asp225His)
c.823G>C (p.Asp275His)
22g.19764315G=CA2396031106TBX1c.226G= (p.Asp76=)
c.700G= (p.Asp234=)
c.673G= (p.Asp225=)
c.823G= (p.Asp275=)
22g.19764315G>TCA410683169TBX1c.226G>T (p.Asp76Tyr)
c.700G>T (p.Asp234Tyr)
c.673G>T (p.Asp225Tyr)
c.823G>T (p.Asp275Tyr)
22g.19764316A>CCA410683172TBX1c.227A>C (p.Asp76Ala)
c.701A>C (p.Asp234Ala)
c.674A>C (p.Asp225Ala)
c.824A>C (p.Asp275Ala)
22g.19764316A>GCA410683171TBX1c.227A>G (p.Asp76Gly)
c.701A>G (p.Asp234Gly)
c.674A>G (p.Asp225Gly)
c.824A>G (p.Asp275Gly)
22g.19764316A>TCA410683170TBX1c.227A>T (p.Asp76Val)
c.701A>T (p.Asp234Val)
c.674A>T (p.Asp225Val)
c.824A>T (p.Asp275Val)
22g.19764317C>ACA410683173TBX1c.228C>A (p.Asp76Glu)
c.702C>A (p.Asp234Glu)
c.675C>A (p.Asp225Glu)
c.825C>A (p.Asp275Glu)
22g.19764317C>GCA410683174TBX1c.228C>G (p.Asp76Glu)
c.702C>G (p.Asp234Glu)
c.675C>G (p.Asp225Glu)
c.825C>G (p.Asp275Glu)
22g.19764317C>TCA513361245TBX1c.228C>T (p.Asp76=)
c.702C>T (p.Asp234=)
c.675C>T (p.Asp225=)
c.825C>T (p.Asp275=)
 ClinVar dbSNP
22g.19764318A>CCA410683175TBX1c.229A>C (p.Asn77His)
c.703A>C (p.Asn235His)
c.676A>C (p.Asn226His)
c.826A>C (p.Asn276His)
22g.19764318A>GCA410683176TBX1c.229A>G (p.Asn77Asp)
c.703A>G (p.Asn235Asp)
c.676A>G (p.Asn226Asp)
c.826A>G (p.Asn276Asp)
22g.19764318A>TCA410683177TBX1c.229A>T (p.Asn77Tyr)
c.703A>T (p.Asn235Tyr)
c.676A>T (p.Asn226Tyr)
c.826A>T (p.Asn276Tyr)
22g.19764319A>CCA410683178TBX1c.230A>C (p.Asn77Thr)
c.704A>C (p.Asn235Thr)
c.677A>C (p.Asn226Thr)
c.827A>C (p.Asn276Thr)
22g.19764319A>GCA410683179TBX1c.230A>G (p.Asn77Ser)
c.704A>G (p.Asn235Ser)
c.677A>G (p.Asn226Ser)
c.827A>G (p.Asn276Ser)
22g.19764319A>TCA410683180TBX1c.230A>T (p.Asn77Ile)
c.704A>T (p.Asn235Ile)
c.677A>T (p.Asn226Ile)
c.827A>T (p.Asn276Ile)
22g.19764320C>ACA410683181TBX1c.231C>A (p.Asn77Lys)
c.705C>A (p.Asn235Lys)
c.678C>A (p.Asn226Lys)
c.828C>A (p.Asn276Lys)
22g.19764320C=CA2396031107TBX1c.231C= (p.Asn77=)
c.705C= (p.Asn235=)
c.678C= (p.Asn226=)
c.828C= (p.Asn276=)
22g.19764320C>GCA410683182TBX1c.231C>G (p.Asn77Lys)
c.705C>G (p.Asn235Lys)
c.678C>G (p.Asn226Lys)
c.828C>G (p.Asn276Lys)
22g.19764320C>TCA10102525TBX1c.231C>T (p.Asn77=)
c.705C>T (p.Asn235=)
c.678C>T (p.Asn226=)
c.828C>T (p.Asn276=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764321G>ACA410683183TBX1c.232G>A (p.Gly78Ser)
c.706G>A (p.Gly236Ser)
c.679G>A (p.Gly227Ser)
c.829G>A (p.Gly277Ser)
 ClinVar dbSNP gnomAD v4
22g.19764321G>CCA410683184TBX1c.232G>C (p.Gly78Arg)
c.706G>C (p.Gly236Arg)
c.679G>C (p.Gly227Arg)
c.829G>C (p.Gly277Arg)
22g.19764321G=CA2396031108TBX1c.232G= (p.Gly78=)
c.706G= (p.Gly236=)
c.679G= (p.Gly227=)
c.829G= (p.Gly277=)
22g.19764321G>TCA410683185TBX1c.232G>T (p.Gly78Cys)
c.706G>T (p.Gly236Cys)
c.679G>T (p.Gly227Cys)
c.829G>T (p.Gly277Cys)
22g.19764322G>ACA410683187TBX1c.233G>A (p.Gly78Asp)
c.707G>A (p.Gly236Asp)
c.680G>A (p.Gly227Asp)
c.830G>A (p.Gly277Asp)
 gnomAD v4
22g.19764322G>CCA410683188TBX1c.233G>C (p.Gly78Ala)
c.707G>C (p.Gly236Ala)
c.680G>C (p.Gly227Ala)
c.830G>C (p.Gly277Ala)
22g.19764322G>TCA410683186TBX1c.233G>T (p.Gly78Val)
c.707G>T (p.Gly236Val)
c.680G>T (p.Gly227Val)
c.830G>T (p.Gly277Val)
22g.19764323C>ACA513361246TBX1c.234C>A (p.Gly78=)
c.708C>A (p.Gly236=)
c.681C>A (p.Gly227=)
c.831C>A (p.Gly277=)
22g.19764323C=CA2396031109TBX1c.234C= (p.Gly78=)
c.708C= (p.Gly236=)
c.681C= (p.Gly227=)
c.831C= (p.Gly277=)
22g.19764323C>GCA10102526TBX1c.234C>G (p.Gly78=)
c.708C>G (p.Gly236=)
c.681C>G (p.Gly227=)
c.831C>G (p.Gly277=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764323C>TCA513361247TBX1c.234C>T (p.Gly78=)
c.708C>T (p.Gly236=)
c.681C>T (p.Gly227=)
c.831C>T (p.Gly277=)
22g.19764324C>ACA410683189TBX1c.235C>A (p.His79Asn)
c.709C>A (p.His237Asn)
c.682C>A (p.His228Asn)
c.832C>A (p.His278Asn)
22g.19764324C>GCA410683190TBX1c.235C>G (p.His79Asp)
c.709C>G (p.His237Asp)
c.682C>G (p.His228Asp)
c.832C>G (p.His278Asp)
22g.19764324C>TCA410683191TBX1c.235C>T (p.His79Tyr)
c.709C>T (p.His237Tyr)
c.682C>T (p.His228Tyr)
c.832C>T (p.His278Tyr)

Number of alleles fetched