Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.80026745C>ACA413740701TBX22c.675C>A (p.His225Gln)
c.*287C>A (n.*287C>A)
n.554C>A
c.315C>A (p.His105Gln)
c.678C>A (p.His226Gln)
Xg.80026745C=CA2439980747TBX22c.675C= (p.His225=)
c.*287C= (n.*287C=)
n.554C=
c.315C= (p.His105=)
c.678C= (p.His226=)
Xg.80026745C>GCA413740702TBX22c.675C>G (p.His225Gln)
c.*287C>G (n.*287C>G)
n.554C>G
c.315C>G (p.His105Gln)
c.678C>G (p.His226Gln)
Xg.80026745C>TCA10461282TBX22c.675C>T (p.His225=)
c.*287C>T (n.*287C>T)
n.554C>T
c.315C>T (p.His105=)
c.678C>T (p.His226=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026746G>ACA10461283TBX22c.676G>A (p.Val226Met)
c.*288G>A (n.*288G>A)
n.555G>A
c.316G>A (p.Val106Met)
c.679G>A (p.Val227Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026746G>CCA413740703TBX22c.676G>C (p.Val226Leu)
c.*288G>C (n.*288G>C)
n.555G>C
c.316G>C (p.Val106Leu)
c.679G>C (p.Val227Leu)
Xg.80026746G=CA2439980748TBX22c.676G= (p.Val226=)
c.*288G= (n.*288G=)
n.555G=
c.316G= (p.Val106=)
c.679G= (p.Val227=)
Xg.80026746G>TCA413740704TBX22c.676G>T (p.Val226Leu)
c.*288G>T (n.*288G>T)
n.555G>T
c.316G>T (p.Val106Leu)
c.679G>T (p.Val227Leu)
Xg.80026747T>ACA413740705TBX22c.677T>A (p.Val226Glu)
c.*289T>A (n.*289T>A)
n.556T>A
c.317T>A (p.Val106Glu)
c.680T>A (p.Val227Glu)
Xg.80026747T>CCA413740706TBX22c.677T>C (p.Val226Ala)
c.*289T>C (n.*289T>C)
n.556T>C
c.317T>C (p.Val106Ala)
c.680T>C (p.Val227Ala)
Xg.80026747T>GCA413740707TBX22c.677T>G (p.Val226Gly)
c.*289T>G (n.*289T>G)
n.556T>G
c.317T>G (p.Val106Gly)
c.680T>G (p.Val227Gly)
Xg.80026748G>ACA517403030TBX22c.678G>A (p.Val226=)
c.*290G>A (n.*290G>A)
n.557G>A
c.318G>A (p.Val106=)
c.681G>A (p.Val227=)
gnomAD v4
Xg.80026748G>CCA517403031TBX22c.678G>C (p.Val226=)
c.*290G>C (n.*290G>C)
n.557G>C
c.318G>C (p.Val106=)
c.681G>C (p.Val227=)
dbSNP
Xg.80026748G=CA2439980749TBX22c.678G= (p.Val226=)
c.*290G= (n.*290G=)
n.557G=
c.318G= (p.Val106=)
c.681G= (p.Val227=)
Xg.80026748G>TCA517403033TBX22c.678G>T (p.Val226=)
c.*290G>T (n.*290G>T)
n.557G>T
c.318G>T (p.Val106=)
c.681G>T (p.Val227=)
Xg.80026749A>CCA413740708TBX22c.679A>C (p.Ile227Leu)
c.*291A>C (n.*291A>C)
n.558A>C
c.319A>C (p.Ile107Leu)
c.682A>C (p.Ile228Leu)
gnomAD v4
Xg.80026749A>GCA413740709TBX22c.679A>G (p.Ile227Val)
c.*291A>G (n.*291A>G)
n.558A>G
c.319A>G (p.Ile107Val)
c.682A>G (p.Ile228Val)
Xg.80026749A>TCA413740710TBX22c.679A>T (p.Ile227Leu)
c.*291A>T (n.*291A>T)
n.558A>T
c.319A>T (p.Ile107Leu)
c.682A>T (p.Ile228Leu)
Xg.80026750T>ACA413740711TBX22c.680T>A (p.Ile227Lys)
c.*292T>A (n.*292T>A)
n.559T>A
c.320T>A (p.Ile107Lys)
c.683T>A (p.Ile228Lys)
Xg.80026750T>CCA413740712TBX22c.680T>C (p.Ile227Thr)
c.*292T>C (n.*292T>C)
n.559T>C
c.320T>C (p.Ile107Thr)
c.683T>C (p.Ile228Thr)
Xg.80026750T>GCA413740713TBX22c.680T>G (p.Ile227Arg)
c.*292T>G (n.*292T>G)
n.559T>G
c.320T>G (p.Ile107Arg)
c.683T>G (p.Ile228Arg)
Xg.80026751A>CCA517403034TBX22c.681A>C (p.Ile227=)
c.*293A>C (n.*293A>C)
n.560A>C
c.321A>C (p.Ile107=)
c.684A>C (p.Ile228=)
Xg.80026751A>GCA413740714TBX22c.681A>G (p.Ile227Met)
c.*293A>G (n.*293A>G)
n.560A>G
c.321A>G (p.Ile107Met)
c.684A>G (p.Ile228Met)
Xg.80026751A>TCA517403035TBX22c.681A>T (p.Ile227=)
c.*293A>T (n.*293A>T)
n.560A>T
c.321A>T (p.Ile107=)
c.684A>T (p.Ile228=)
Xg.80026752G>ACA331778190TBX22c.682G>A (p.Glu228Lys)
c.*294G>A (n.*294G>A)
n.561G>A
c.322G>A (p.Glu108Lys)
c.685G>A (p.Glu229Lys)
dbSNP gnomAD v3 gnomAD v4
Xg.80026752G>CCA413740715TBX22c.682G>C (p.Glu228Gln)
c.*294G>C (n.*294G>C)
n.561G>C
c.322G>C (p.Glu108Gln)
c.685G>C (p.Glu229Gln)
Xg.80026752G=CA2439980750TBX22c.682G= (p.Glu228=)
c.*294G= (n.*294G=)
n.561G=
c.322G= (p.Glu108=)
c.685G= (p.Glu229=)
Xg.80026752G>TCA413740716TBX22c.682G>T (p.Glu228Ter)
c.*294G>T (n.*294G>T)
n.561G>T
c.322G>T (p.Glu108Ter)
c.685G>T (p.Glu229Ter)
Xg.80026753A>CCA413740717TBX22c.683A>C (p.Glu228Ala)
c.*295A>C (n.*295A>C)
n.562A>C
c.323A>C (p.Glu108Ala)
c.686A>C (p.Glu229Ala)
Xg.80026753A>GCA413740719TBX22c.683A>G (p.Glu228Gly)
c.*295A>G (n.*295A>G)
n.562A>G
c.323A>G (p.Glu108Gly)
c.686A>G (p.Glu229Gly)
Xg.80026753A>TCA413740718TBX22c.683A>T (p.Glu228Val)
c.*295A>T (n.*295A>T)
n.562A>T
c.323A>T (p.Glu108Val)
c.686A>T (p.Glu229Val)
dbSNP
Xg.80026754G>ACA517403036TBX22c.684G>A (p.Glu228=)
c.*296G>A (n.*296G>A)
n.563G>A
c.324G>A (p.Glu108=)
c.687G>A (p.Glu229=)
dbSNP gnomAD v2
Xg.80026754G>CCA413740720TBX22c.684G>C (p.Glu228Asp)
c.*296G>C (n.*296G>C)
n.563G>C
c.324G>C (p.Glu108Asp)
c.687G>C (p.Glu229Asp)
Xg.80026754G=CA2439980751TBX22c.684G= (p.Glu228=)
c.*296G= (n.*296G=)
n.563G=
c.324G= (p.Glu108=)
c.687G= (p.Glu229=)
Xg.80026754G>TCA413740721TBX22c.684G>T (p.Glu228Asp)
c.*296G>T (n.*296G>T)
n.563G>T
c.324G>T (p.Glu108Asp)
c.687G>T (p.Glu229Asp)
Xg.80026755C>ACA413740722TBX22c.685C>A (p.Gln229Lys)
c.*297C>A (n.*297C>A)
n.564C>A
c.325C>A (p.Gln109Lys)
c.688C>A (p.Gln230Lys)
gnomAD v4
Xg.80026755C>GCA413740723TBX22c.685C>G (p.Gln229Glu)
c.*297C>G (n.*297C>G)
n.564C>G
c.325C>G (p.Gln109Glu)
c.688C>G (p.Gln230Glu)
Xg.80026755C>TCA413740724TBX22c.685C>T (p.Gln229Ter)
c.*297C>T (n.*297C>T)
n.564C>T
c.325C>T (p.Gln109Ter)
c.688C>T (p.Gln230Ter)
Xg.80026756A=CA2439980752TBX22c.686A= (p.Gln229=)
c.*298A= (n.*298A=)
n.565A=
c.326A= (p.Gln109=)
c.689A= (p.Gln230=)
Xg.80026756A>CCA413740725TBX22c.686A>C (p.Gln229Pro)
c.*298A>C (n.*298A>C)
n.565A>C
c.326A>C (p.Gln109Pro)
c.689A>C (p.Gln230Pro)
Xg.80026756A>GCA413740726TBX22c.686A>G (p.Gln229Arg)
c.*298A>G (n.*298A>G)
n.565A>G
c.326A>G (p.Gln109Arg)
c.689A>G (p.Gln230Arg)
gnomAD v4
Xg.80026756A>TCA413740727TBX22c.686A>T (p.Gln229Leu)
c.*298A>T (n.*298A>T)
n.565A>T
c.326A>T (p.Gln109Leu)
c.689A>T (p.Gln230Leu)
dbSNP gnomAD v3 gnomAD v4
Xg.80026757A>CCA413740728TBX22c.687A>C (p.Gln229His)
c.*299A>C (n.*299A>C)
n.566A>C
c.327A>C (p.Gln109His)
c.690A>C (p.Gln230His)
Xg.80026757A>GCA517403037TBX22c.687A>G (p.Gln229=)
c.*299A>G (n.*299A>G)
n.566A>G
c.327A>G (p.Gln109=)
c.690A>G (p.Gln230=)
Xg.80026757A>TCA413740729TBX22c.687A>T (p.Gln229His)
c.*299A>T (n.*299A>T)
n.566A>T
c.327A>T (p.Gln109His)
c.690A>T (p.Gln230His)
Xg.80026758G>ACA413740730TBX22c.688G>A (p.Gly230Ser)
c.*300G>A (n.*300G>A)
n.567G>A
c.328G>A (p.Gly110Ser)
c.691G>A (p.Gly231Ser)
Xg.80026758G>CCA413740731TBX22c.688G>C (p.Gly230Arg)
c.*300G>C (n.*300G>C)
n.567G>C
c.328G>C (p.Gly110Arg)
c.691G>C (p.Gly231Arg)
Xg.80026758G>TCA413740732TBX22c.688G>T (p.Gly230Cys)
c.*300G>T (n.*300G>T)
n.567G>T
c.328G>T (p.Gly110Cys)
c.691G>T (p.Gly231Cys)
gnomAD v4
Xg.80026759G>ACA10461284TBX22c.689G>A (p.Gly230Asp)
c.*301G>A (n.*301G>A)
n.568G>A
c.329G>A (p.Gly110Asp)
c.692G>A (p.Gly231Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026759G>CCA413740733TBX22c.689G>C (p.Gly230Ala)
c.*301G>C (n.*301G>C)
n.568G>C
c.329G>C (p.Gly110Ala)
c.692G>C (p.Gly231Ala)
Xg.80026759G=CA2439980753TBX22c.689G= (p.Gly230=)
c.*301G= (n.*301G=)
n.568G=
c.329G= (p.Gly110=)
c.692G= (p.Gly231=)
Xg.80026759G>TCA413740734TBX22c.689G>T (p.Gly230Val)
c.*301G>T (n.*301G>T)
n.568G>T
c.329G>T (p.Gly110Val)
c.692G>T (p.Gly231Val)
Xg.80026760C>ACA517403038TBX22c.690C>A (p.Gly230=)
c.*302C>A (n.*302C>A)
n.569C>A
c.330C>A (p.Gly110=)
c.693C>A (p.Gly231=)
dbSNP
Xg.80026760C>GCA517403039TBX22c.690C>G (p.Gly230=)
c.*302C>G (n.*302C>G)
n.569C>G
c.330C>G (p.Gly110=)
c.693C>G (p.Gly231=)
Xg.80026760C>TCA517403040TBX22c.690C>T (p.Gly230=)
c.*302C>T (n.*302C>T)
n.569C>T
c.330C>T (p.Gly110=)
c.693C>T (p.Gly231=)
Xg.80026761A>CCA413740735TBX22c.691A>C (p.Ser231Arg)
c.*303A>C (n.*303A>C)
n.570A>C
c.331A>C (p.Ser111Arg)
c.694A>C (p.Ser232Arg)
Xg.80026761A>GCA413740736TBX22c.691A>G (p.Ser231Gly)
c.*303A>G (n.*303A>G)
n.570A>G
c.331A>G (p.Ser111Gly)
c.694A>G (p.Ser232Gly)
Xg.80026761A>TCA413740737TBX22c.691A>T (p.Ser231Cys)
c.*303A>T (n.*303A>T)
n.570A>T
c.331A>T (p.Ser111Cys)
c.694A>T (p.Ser232Cys)
Xg.80026762G>ACA413740738TBX22c.692G>A (p.Ser231Asn)
c.*304G>A (n.*304G>A)
n.571G>A
c.332G>A (p.Ser111Asn)
c.695G>A (p.Ser232Asn)
dbSNP gnomAD v3 gnomAD v4
Xg.80026762G>CCA413740739TBX22c.692G>C (p.Ser231Thr)
c.*304G>C (n.*304G>C)
n.571G>C
c.332G>C (p.Ser111Thr)
c.695G>C (p.Ser232Thr)
Xg.80026762G=CA2439980754TBX22c.692G= (p.Ser231=)
c.*304G= (n.*304G=)
n.571G=
c.332G= (p.Ser111=)
c.695G= (p.Ser232=)
Xg.80026762G>TCA413740740TBX22c.692G>T (p.Ser231Ile)
c.*304G>T (n.*304G>T)
n.571G>T
c.332G>T (p.Ser111Ile)
c.695G>T (p.Ser232Ile)
Xg.80026763C>ACA413740741TBX22c.693C>A (p.Ser231Arg)
c.*305C>A (n.*305C>A)
n.572C>A
c.333C>A (p.Ser111Arg)
c.696C>A (p.Ser232Arg)
dbSNP gnomAD v3 gnomAD v4
Xg.80026763C=CA2439980755TBX22c.693C= (p.Ser231=)
c.*305C= (n.*305C=)
n.572C=
c.333C= (p.Ser111=)
c.696C= (p.Ser232=)
Xg.80026763C>GCA413740742TBX22c.693C>G (p.Ser231Arg)
c.*305C>G (n.*305C>G)
n.572C>G
c.333C>G (p.Ser111Arg)
c.696C>G (p.Ser232Arg)
dbSNP
Xg.80026763C>TCA517403041TBX22c.693C>T (p.Ser231=)
c.*305C>T (n.*305C>T)
n.572C>T
c.333C>T (p.Ser111=)
c.696C>T (p.Ser232=)
Xg.80026764A>CCA413740743TBX22c.694A>C (p.Ser232Arg)
c.*306A>C (n.*306A>C)
n.573A>C
c.334A>C (p.Ser112Arg)
c.697A>C (p.Ser233Arg)
Xg.80026764A>GCA413740744TBX22c.694A>G (p.Ser232Gly)
c.*306A>G (n.*306A>G)
n.573A>G
c.334A>G (p.Ser112Gly)
c.697A>G (p.Ser233Gly)
Xg.80026764A>TCA413740745TBX22c.694A>T (p.Ser232Cys)
c.*306A>T (n.*306A>T)
n.573A>T
c.334A>T (p.Ser112Cys)
c.697A>T (p.Ser233Cys)
Xg.80026765G>ACA413740746TBX22c.695G>A (p.Ser232Asn)
c.*307G>A (n.*307G>A)
n.574G>A
c.335G>A (p.Ser112Asn)
c.698G>A (p.Ser233Asn)
dbSNP
Xg.80026765G>CCA413740748TBX22c.695G>C (p.Ser232Thr)
c.*307G>C (n.*307G>C)
n.574G>C
c.335G>C (p.Ser112Thr)
c.698G>C (p.Ser233Thr)
Xg.80026765G=CA2439980756TBX22c.695G= (p.Ser232=)
c.*307G= (n.*307G=)
n.574G=
c.335G= (p.Ser112=)
c.698G= (p.Ser233=)
Xg.80026765G>TCA413740747TBX22c.695G>T (p.Ser232Ile)
c.*307G>T (n.*307G>T)
n.574G>T
c.335G>T (p.Ser112Ile)
c.698G>T (p.Ser233Ile)
Xg.80026766T>ACA413740749TBX22c.696T>A (p.Ser232Arg)
c.*308T>A (n.*308T>A)
n.575T>A
c.336T>A (p.Ser112Arg)
c.699T>A (p.Ser233Arg)
Xg.80026766T>CCA517403042TBX22c.696T>C (p.Ser232=)
c.*308T>C (n.*308T>C)
n.575T>C
c.336T>C (p.Ser112=)
c.699T>C (p.Ser233=)
dbSNP gnomAD v2 gnomAD v4
Xg.80026766T>GCA413740750TBX22c.696T>G (p.Ser232Arg)
c.*308T>G (n.*308T>G)
n.575T>G
c.336T>G (p.Ser112Arg)
c.699T>G (p.Ser233Arg)
Xg.80026766T=CA2439980757TBX22c.696T= (p.Ser232=)
c.*308T= (n.*308T=)
n.575T=
c.336T= (p.Ser112=)
c.699T= (p.Ser233=)
Xg.80026767G>ACA10461285TBX22c.697G>A (p.Val233Ile)
c.*309G>A (n.*309G>A)
n.576G>A
c.337G>A (p.Val113Ile)
c.700G>A (p.Val234Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026767G>CCA413740751TBX22c.697G>C (p.Val233Leu)
c.*309G>C (n.*309G>C)
n.576G>C
c.337G>C (p.Val113Leu)
c.700G>C (p.Val234Leu)
Xg.80026767G=CA2439980758TBX22c.697G= (p.Val233=)
c.*309G= (n.*309G=)
n.576G=
c.337G= (p.Val113=)
c.700G= (p.Val234=)
Xg.80026767G>TCA413740752TBX22c.697G>T (p.Val233Phe)
c.*309G>T (n.*309G>T)
n.576G>T
c.337G>T (p.Val113Phe)
c.700G>T (p.Val234Phe)
dbSNP
Xg.80026768T>ACA413740753TBX22c.698T>A (p.Val233Asp)
c.*310T>A (n.*310T>A)
n.577T>A
c.338T>A (p.Val113Asp)
c.701T>A (p.Val234Asp)
Xg.80026768T>CCA413740754TBX22c.698T>C (p.Val233Ala)
c.*310T>C (n.*310T>C)
n.577T>C
c.338T>C (p.Val113Ala)
c.701T>C (p.Val234Ala)
Xg.80026768T>GCA413740755TBX22c.698T>G (p.Val233Gly)
c.*310T>G (n.*310T>G)
n.577T>G
c.338T>G (p.Val113Gly)
c.701T>G (p.Val234Gly)
Xg.80026769T>ACA517403043TBX22c.699T>A (p.Val233=)
c.*311T>A (n.*311T>A)
n.578T>A
c.339T>A (p.Val113=)
c.702T>A (p.Val234=)
Xg.80026769T>CCA517403044TBX22c.699T>C (p.Val233=)
c.*311T>C (n.*311T>C)
n.578T>C
c.339T>C (p.Val113=)
c.702T>C (p.Val234=)
Xg.80026769T>GCA517403045TBX22c.699T>G (p.Val233=)
c.*311T>G (n.*311T>G)
n.578T>G
c.339T>G (p.Val113=)
c.702T>G (p.Val234=)
Xg.80026770G>ACA413740756TBX22c.700G>A (p.Asp234Asn)
c.*312G>A (n.*312G>A)
n.579G>A
c.340G>A (p.Asp114Asn)
c.703G>A (p.Asp235Asn)
Xg.80026770G>CCA413740757TBX22c.700G>C (p.Asp234His)
c.*312G>C (n.*312G>C)
n.579G>C
c.340G>C (p.Asp114His)
c.703G>C (p.Asp235His)
Xg.80026770G>TCA413740758TBX22c.700G>T (p.Asp234Tyr)
c.*312G>T (n.*312G>T)
n.579G>T
c.340G>T (p.Asp114Tyr)
c.703G>T (p.Asp235Tyr)
Xg.80026771A>CCA413740759TBX22c.701A>C (p.Asp234Ala)
c.*313A>C (n.*313A>C)
n.580A>C
c.341A>C (p.Asp114Ala)
c.704A>C (p.Asp235Ala)
Xg.80026771A>GCA413740760TBX22c.701A>G (p.Asp234Gly)
c.*313A>G (n.*313A>G)
n.580A>G
c.341A>G (p.Asp114Gly)
c.704A>G (p.Asp235Gly)
Xg.80026771A>TCA413740761TBX22c.701A>T (p.Asp234Val)
c.*313A>T (n.*313A>T)
n.580A>T
c.341A>T (p.Asp114Val)
c.704A>T (p.Asp235Val)
Xg.80026772C>ACA413740762TBX22c.702C>A (p.Asp234Glu)
c.*314C>A (n.*314C>A)
n.581C>A
c.342C>A (p.Asp114Glu)
c.705C>A (p.Asp235Glu)
Xg.80026772C=CA2439980759TBX22c.702C= (p.Asp234=)
c.*314C= (n.*314C=)
n.581C=
c.342C= (p.Asp114=)
c.705C= (p.Asp235=)
Xg.80026772C>GCA10461287TBX22c.702C>G (p.Asp234Glu)
c.*314C>G (n.*314C>G)
n.581C>G
c.342C>G (p.Asp114Glu)
c.705C>G (p.Asp235Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80026772C>TCA10461286TBX22c.702C>T (p.Asp234=)
c.*314C>T (n.*314C>T)
n.581C>T
c.342C>T (p.Asp114=)
c.705C>T (p.Asp235=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80026773C>ACA413740763TBX22c.703C>A (p.Leu235Met)
c.*315C>A (n.*315C>A)
n.582C>A
c.343C>A (p.Leu115Met)
c.706C>A (p.Leu236Met)
Xg.80026773C>GCA413740764TBX22c.703C>G (p.Leu235Val)
c.*315C>G (n.*315C>G)
n.582C>G
c.343C>G (p.Leu115Val)
c.706C>G (p.Leu236Val)
Xg.80026773C>TCA517403046TBX22c.703C>T (p.Leu235=)
c.*315C>T (n.*315C>T)
n.582C>T
c.343C>T (p.Leu115=)
c.706C>T (p.Leu236=)
Xg.80026774T>ACA413740765TBX22c.704T>A (p.Leu235Gln)
c.*316T>A (n.*316T>A)
n.583T>A
c.344T>A (p.Leu115Gln)
c.707T>A (p.Leu236Gln)
Xg.80026774T>CCA413740766TBX22c.704T>C (p.Leu235Pro)
c.*316T>C (n.*316T>C)
n.583T>C
c.344T>C (p.Leu115Pro)
c.707T>C (p.Leu236Pro)
Xg.80026774T>GCA413740767TBX22c.704T>G (p.Leu235Arg)
c.*316T>G (n.*316T>G)
n.583T>G
c.344T>G (p.Leu115Arg)
c.707T>G (p.Leu236Arg)
Xg.80026775G>ACA517403047TBX22c.705G>A (p.Leu235=)
c.*317G>A (n.*317G>A)
n.584G>A
c.345G>A (p.Leu115=)
c.708G>A (p.Leu236=)
Xg.80026775G>CCA517403048TBX22c.705G>C (p.Leu235=)
c.*317G>C (n.*317G>C)
n.584G>C
c.345G>C (p.Leu115=)
c.708G>C (p.Leu236=)
Xg.80026775G>TCA517403049TBX22c.705G>T (p.Leu235=)
c.*317G>T (n.*317G>T)
n.584G>T
c.345G>T (p.Leu115=)
c.708G>T (p.Leu236=)
Xg.80026776T>ACA413740768TBX22c.706T>A (p.Ser236Thr)
c.*318T>A (n.*318T>A)
n.585T>A
c.346T>A (p.Ser116Thr)
c.709T>A (p.Ser237Thr)
Xg.80026776T>CCA413740769TBX22c.706T>C (p.Ser236Pro)
c.*318T>C (n.*318T>C)
n.585T>C
c.346T>C (p.Ser116Pro)
c.709T>C (p.Ser237Pro)
Xg.80026776T>GCA413740770TBX22c.706T>G (p.Ser236Ala)
c.*318T>G (n.*318T>G)
n.585T>G
c.346T>G (p.Ser116Ala)
c.709T>G (p.Ser237Ala)
Xg.80026777C>ACA413740771TBX22c.707C>A (p.Ser236Tyr)
c.*319C>A (n.*319C>A)
n.586C>A
c.347C>A (p.Ser116Tyr)
c.710C>A (p.Ser237Tyr)
Xg.80026777C=CA2439980760TBX22c.707C= (p.Ser236=)
c.*319C= (n.*319C=)
n.586C=
c.347C= (p.Ser116=)
c.710C= (p.Ser237=)
Xg.80026777C>GCA413740772TBX22c.707C>G (p.Ser236Cys)
c.*319C>G (n.*319C>G)
n.586C>G
c.347C>G (p.Ser116Cys)
c.710C>G (p.Ser237Cys)
Xg.80026777C>TCA413740773TBX22c.707C>T (p.Ser236Phe)
c.*319C>T (n.*319C>T)
n.586C>T
c.347C>T (p.Ser116Phe)
c.710C>T (p.Ser237Phe)
dbSNP
Xg.80026778C>ACA517403051TBX22c.708C>A (p.Ser236=)
c.*320C>A (n.*320C>A)
n.587C>A
c.348C>A (p.Ser116=)
c.711C>A (p.Ser237=)
dbSNP gnomAD v3 gnomAD v4
Xg.80026778C=CA2439980761TBX22c.708C= (p.Ser236=)
c.*320C= (n.*320C=)
n.587C=
c.348C= (p.Ser116=)
c.711C= (p.Ser237=)
Xg.80026778C>GCA517403052TBX22c.708C>G (p.Ser236=)
c.*320C>G (n.*320C>G)
n.587C>G
c.348C>G (p.Ser116=)
c.711C>G (p.Ser237=)
Xg.80026778C>TCA517403050TBX22c.708C>T (p.Ser236=)
c.*320C>T (n.*320C>T)
n.587C>T
c.348C>T (p.Ser116=)
c.711C>T (p.Ser237=)
COSMIC
Xg.80026779C>ACA413740776TBX22c.709C>A (p.Gln237Lys)
c.*321C>A (n.*321C>A)
n.588C>A
c.349C>A (p.Gln117Lys)
c.712C>A (p.Gln238Lys)
Xg.80026779C=CA2439980762TBX22c.709C= (p.Gln237=)
c.*321C= (n.*321C=)
n.588C=
c.349C= (p.Gln117=)
c.712C= (p.Gln238=)
Xg.80026779C>GCA413740775TBX22c.709C>G (p.Gln237Glu)
c.*321C>G (n.*321C>G)
n.588C>G
c.349C>G (p.Gln117Glu)
c.712C>G (p.Gln238Glu)
dbSNP gnomAD v3 gnomAD v4
Xg.80026779C>TCA413740774TBX22c.709C>T (p.Gln237Ter)
c.*321C>T (n.*321C>T)
n.588C>T
c.349C>T (p.Gln117Ter)
c.712C>T (p.Gln238Ter)
Xg.80026780A=CA2439980763TBX22c.710A= (p.Gln237=)
c.*322A= (n.*322A=)
n.589A=
c.350A= (p.Gln117=)
c.713A= (p.Gln238=)
Xg.80026780A>CCA331778191TBX22c.710A>C (p.Gln237Pro)
c.*322A>C (n.*322A>C)
n.589A>C
c.350A>C (p.Gln117Pro)
c.713A>C (p.Gln238Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026780A>GCA413740777TBX22c.710A>G (p.Gln237Arg)
c.*322A>G (n.*322A>G)
n.589A>G
c.350A>G (p.Gln117Arg)
c.713A>G (p.Gln238Arg)
Xg.80026780A>TCA413740778TBX22c.710A>T (p.Gln237Leu)
c.*322A>T (n.*322A>T)
n.589A>T
c.350A>T (p.Gln117Leu)
c.713A>T (p.Gln238Leu)
Xg.80026781G>ACA517403053TBX22c.711G>A (p.Gln237=)
c.*323G>A (n.*323G>A)
n.590G>A
c.351G>A (p.Gln117=)
c.714G>A (p.Gln238=)
Xg.80026781G>CCA413740779TBX22c.711G>C (p.Gln237His)
c.*323G>C (n.*323G>C)
n.590G>C
c.351G>C (p.Gln117His)
c.714G>C (p.Gln238His)
gnomAD v4
Xg.80026781G>TCA413740780TBX22c.711G>T (p.Gln237His)
c.*323G>T (n.*323G>T)
n.590G>T
c.351G>T (p.Gln117His)
c.714G>T (p.Gln238His)
gnomAD v4
Xg.80026782A>CCA413740781TBX22c.712A>C (p.Ile238Leu)
c.*324A>C (n.*324A>C)
n.591A>C
c.352A>C (p.Ile118Leu)
c.715A>C (p.Ile239Leu)
Xg.80026782A>GCA413740782TBX22c.712A>G (p.Ile238Val)
c.*324A>G (n.*324A>G)
n.591A>G
c.352A>G (p.Ile118Val)
c.715A>G (p.Ile239Val)
gnomAD v4
Xg.80026782A>TCA413740783TBX22c.712A>T (p.Ile238Phe)
c.*324A>T (n.*324A>T)
n.591A>T
c.352A>T (p.Ile118Phe)
c.715A>T (p.Ile239Phe)
Xg.80026783T>ACA413740784TBX22c.713T>A (p.Ile238Asn)
c.*325T>A (n.*325T>A)
n.592T>A
c.353T>A (p.Ile118Asn)
c.716T>A (p.Ile239Asn)
Xg.80026783T>CCA413740785TBX22c.713T>C (p.Ile238Thr)
c.*325T>C (n.*325T>C)
n.592T>C
c.353T>C (p.Ile118Thr)
c.716T>C (p.Ile239Thr)
Xg.80026783T>GCA413740786TBX22c.713T>G (p.Ile238Ser)
c.*325T>G (n.*325T>G)
n.592T>G
c.353T>G (p.Ile118Ser)
c.716T>G (p.Ile239Ser)
Xg.80026784T>ACA517403054TBX22c.714T>A (p.Ile238=)
c.*326T>A (n.*326T>A)
n.593T>A
c.354T>A (p.Ile118=)
c.717T>A (p.Ile239=)
Xg.80026784T>CCA517403055TBX22c.714T>C (p.Ile238=)
c.*326T>C (n.*326T>C)
n.593T>C
c.354T>C (p.Ile118=)
c.717T>C (p.Ile239=)
Xg.80026784T>GCA413740787TBX22c.714T>G (p.Ile238Met)
c.*326T>G (n.*326T>G)
n.593T>G
c.354T>G (p.Ile118Met)
c.717T>G (p.Ile239Met)
Xg.80026785C>ACA413740790TBX22c.715C>A (p.Gln239Lys)
c.*327C>A (n.*327C>A)
n.594C>A
c.355C>A (p.Gln119Lys)
c.718C>A (p.Gln240Lys)
Xg.80026785C>GCA413740789TBX22c.715C>G (p.Gln239Glu)
c.*327C>G (n.*327C>G)
n.594C>G
c.355C>G (p.Gln119Glu)
c.718C>G (p.Gln240Glu)
COSMIC
Xg.80026785C>TCA413740788TBX22c.715C>T (p.Gln239Ter)
c.*327C>T (n.*327C>T)
n.594C>T
c.355C>T (p.Gln119Ter)
c.718C>T (p.Gln240Ter)
Xg.80026786A>CCA413740791TBX22c.716A>C (p.Gln239Pro)
c.*328A>C (n.*328A>C)
n.595A>C
c.356A>C (p.Gln119Pro)
c.719A>C (p.Gln240Pro)
gnomAD v4
Xg.80026786A>GCA413740792TBX22c.716A>G (p.Gln239Arg)
c.*328A>G (n.*328A>G)
n.595A>G
c.356A>G (p.Gln119Arg)
c.719A>G (p.Gln240Arg)
Xg.80026786A>TCA413740793TBX22c.716A>T (p.Gln239Leu)
c.*328A>T (n.*328A>T)
n.595A>T
c.356A>T (p.Gln119Leu)
c.719A>T (p.Gln240Leu)
Xg.80026787G>ACA517403056TBX22c.717G>A (p.Gln239=)
c.*329G>A (n.*329G>A)
n.596G>A
c.357G>A (p.Gln119=)
c.720G>A (p.Gln240=)
Xg.80026787G>CCA413740794TBX22c.717G>C (p.Gln239His)
c.*329G>C (n.*329G>C)
n.596G>C
c.357G>C (p.Gln119His)
c.720G>C (p.Gln240His)
Xg.80026787G>TCA413740795TBX22c.717G>T (p.Gln239His)
c.*329G>T (n.*329G>T)
n.596G>T
c.357G>T (p.Gln119His)
c.720G>T (p.Gln240His)
Xg.80026788T>ACA413740796TBX22c.718T>A (p.Ser240Thr)
c.*330T>A (n.*330T>A)
n.597T>A
c.358T>A (p.Ser120Thr)
c.721T>A (p.Ser241Thr)
Xg.80026788T>CCA413740797TBX22c.718T>C (p.Ser240Pro)
c.*330T>C (n.*330T>C)
n.597T>C
c.358T>C (p.Ser120Pro)
c.721T>C (p.Ser241Pro)
Xg.80026788T>GCA413740798TBX22c.718T>G (p.Ser240Ala)
c.*330T>G (n.*330T>G)
n.597T>G
c.358T>G (p.Ser120Ala)
c.721T>G (p.Ser241Ala)
Xg.80026789C>ACA413740799TBX22c.719C>A (p.Ser240Tyr)
c.*331C>A (n.*331C>A)
n.598C>A
c.359C>A (p.Ser120Tyr)
c.722C>A (p.Ser241Tyr)
Xg.80026789C>GCA413740800TBX22c.719C>G (p.Ser240Cys)
c.*331C>G (n.*331C>G)
n.598C>G
c.359C>G (p.Ser120Cys)
c.722C>G (p.Ser241Cys)
Xg.80026789C>TCA413740801TBX22c.719C>T (p.Ser240Phe)
c.*331C>T (n.*331C>T)
n.598C>T
c.359C>T (p.Ser120Phe)
c.722C>T (p.Ser241Phe)
Xg.80026790C>ACA331778192TBX22c.720C>A (p.Ser240=)
c.*332C>A (n.*332C>A)
n.599C>A
c.360C>A (p.Ser120=)
c.723C>A (p.Ser241=)
dbSNP gnomAD v3 gnomAD v4
Xg.80026790C=CA2439980764TBX22c.720C= (p.Ser240=)
c.*332C= (n.*332C=)
n.599C=
c.360C= (p.Ser120=)
c.723C= (p.Ser241=)
Xg.80026790C>GCA517403057TBX22c.720C>G (p.Ser240=)
c.*332C>G (n.*332C>G)
n.599C>G
c.360C>G (p.Ser120=)
c.723C>G (p.Ser241=)
Xg.80026790C>TCA517403058TBX22c.720C>T (p.Ser240=)
c.*332C>T (n.*332C>T)
n.599C>T
c.360C>T (p.Ser120=)
c.723C>T (p.Ser241=)
Xg.80026791T>ACA413740802TBX22c.721T>A (p.Leu241Met)
c.*333T>A (n.*333T>A)
n.600T>A
c.361T>A (p.Leu121Met)
c.724T>A (p.Leu242Met)
Xg.80026791T>CCA517403059TBX22c.721T>C (p.Leu241=)
c.*333T>C (n.*333T>C)
n.600T>C
c.361T>C (p.Leu121=)
c.724T>C (p.Leu242=)
Xg.80026791T>GCA413740803TBX22c.721T>G (p.Leu241Val)
c.*333T>G (n.*333T>G)
n.600T>G
c.361T>G (p.Leu121Val)
c.724T>G (p.Leu242Val)
gnomAD v4
Xg.80026792T>ACA413740805TBX22c.722T>A (p.Leu241Ter)
c.*334T>A (n.*334T>A)
n.601T>A
c.362T>A (p.Leu121Ter)
c.725T>A (p.Leu242Ter)
Xg.80026792T>CCA413740806TBX22c.722T>C (p.Leu241Ser)
c.*334T>C (n.*334T>C)
n.601T>C
c.362T>C (p.Leu121Ser)
c.725T>C (p.Leu242Ser)
Xg.80026792T>GCA413740804TBX22c.722T>G (p.Leu241Trp)
c.*334T>G (n.*334T>G)
n.601T>G
c.362T>G (p.Leu121Trp)
c.725T>G (p.Leu242Trp)
Xg.80026793G>ACA517403060TBX22c.723G>A (p.Leu241=)
c.*335G>A (n.*335G>A)
n.602G>A
c.363G>A (p.Leu121=)
c.726G>A (p.Leu242=)
Xg.80026793G>CCA413740808TBX22c.723G>C (p.Leu241Phe)
c.*335G>C (n.*335G>C)
n.602G>C
c.363G>C (p.Leu121Phe)
c.726G>C (p.Leu242Phe)
Xg.80026793G>TCA413740807TBX22c.723G>T (p.Leu241Phe)
c.*335G>T (n.*335G>T)
n.602G>T
c.363G>T (p.Leu121Phe)
c.726G>T (p.Leu242Phe)
Xg.80026794C>ACA10461288TBX22c.724C>A (p.Pro242Thr)
c.*336C>A (n.*336C>A)
n.603C>A
c.364C>A (p.Pro122Thr)
c.727C>A (p.Pro243Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80026794C=CA2439980765TBX22c.724C= (p.Pro242=)
c.*336C= (n.*336C=)
n.603C=
c.364C= (p.Pro122=)
c.727C= (p.Pro243=)
Xg.80026794C>GCA413740809TBX22c.724C>G (p.Pro242Ala)
c.*336C>G (n.*336C>G)
n.603C>G
c.364C>G (p.Pro122Ala)
c.727C>G (p.Pro243Ala)
Xg.80026794C>TCA413740810TBX22c.724C>T (p.Pro242Ser)
c.*336C>T (n.*336C>T)
n.603C>T
c.364C>T (p.Pro122Ser)
c.727C>T (p.Pro243Ser)
Xg.80026795C>ACA413740811TBX22c.725C>A (p.Pro242His)
c.*337C>A (n.*337C>A)
n.604C>A
c.365C>A (p.Pro122His)
c.728C>A (p.Pro243His)
Xg.80026795C>GCA413740813TBX22c.725C>G (p.Pro242Arg)
c.*337C>G (n.*337C>G)
n.604C>G
c.365C>G (p.Pro122Arg)
c.728C>G (p.Pro243Arg)
Xg.80026795C>TCA413740812TBX22c.725C>T (p.Pro242Leu)
c.*337C>T (n.*337C>T)
n.604C>T
c.365C>T (p.Pro122Leu)
c.728C>T (p.Pro243Leu)
Xg.80026796C>ACA517403061TBX22c.726C>A (p.Pro242=)
c.*338C>A (n.*338C>A)
n.605C>A
c.366C>A (p.Pro122=)
c.729C>A (p.Pro243=)
COSMIC
Xg.80026796C>GCA517403062TBX22c.726C>G (p.Pro242=)
c.*338C>G (n.*338C>G)
n.605C>G
c.366C>G (p.Pro122=)
c.729C>G (p.Pro243=)
Xg.80026796C>TCA517403063TBX22c.726C>T (p.Pro242=)
c.*338C>T (n.*338C>T)
n.605C>T
c.366C>T (p.Pro122=)
c.729C>T (p.Pro243=)
Xg.80026797A=CA2439980766TBX22c.727A= (p.Thr243=)
c.*339A= (n.*339A=)
n.606A=
c.367A= (p.Thr123=)
c.730A= (p.Thr244=)
Xg.80026797A>CCA413740814TBX22c.727A>C (p.Thr243Pro)
c.*339A>C (n.*339A>C)
n.606A>C
c.367A>C (p.Thr123Pro)
c.730A>C (p.Thr244Pro)
Xg.80026797A>GCA413740815TBX22c.727A>G (p.Thr243Ala)
c.*339A>G (n.*339A>G)
n.606A>G
c.367A>G (p.Thr123Ala)
c.730A>G (p.Thr244Ala)
dbSNP gnomAD v3 gnomAD v4
Xg.80026797A>TCA413740816TBX22c.727A>T (p.Thr243Ser)
c.*339A>T (n.*339A>T)
n.606A>T
c.367A>T (p.Thr123Ser)
c.730A>T (p.Thr244Ser)
dbSNP gnomAD v2 gnomAD v4
Xg.80026798C>ACA413740817TBX22c.728C>A (p.Thr243Asn)
c.*340C>A (n.*340C>A)
n.607C>A
c.368C>A (p.Thr123Asn)
c.731C>A (p.Thr244Asn)
COSMIC
Xg.80026798C>GCA413740818TBX22c.728C>G (p.Thr243Ser)
c.*340C>G (n.*340C>G)
n.607C>G
c.368C>G (p.Thr123Ser)
c.731C>G (p.Thr244Ser)
Xg.80026798C>TCA413740819TBX22c.728C>T (p.Thr243Ile)
c.*340C>T (n.*340C>T)
n.607C>T
c.368C>T (p.Thr123Ile)
c.731C>T (p.Thr244Ile)
Xg.80026799T>ACA517403065TBX22c.729T>A (p.Thr243=)
c.*341T>A (n.*341T>A)
n.608T>A
c.369T>A (p.Thr123=)
c.732T>A (p.Thr244=)
Xg.80026799T>CCA10461289TBX22c.729T>C (p.Thr243=)
c.*341T>C (n.*341T>C)
n.608T>C
c.369T>C (p.Thr123=)
c.732T>C (p.Thr244=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80026799T>GCA517403064TBX22c.729T>G (p.Thr243=)
c.*341T>G (n.*341T>G)
n.608T>G
c.369T>G (p.Thr123=)
c.732T>G (p.Thr244=)
Xg.80026799T=CA2439980767TBX22c.729T= (p.Thr243=)
c.*341T= (n.*341T=)
n.608T=
c.369T= (p.Thr123=)
c.732T= (p.Thr244=)
Xg.80026800G>ACA413740820TBX22c.730G>A (p.Glu244Lys)
c.*342G>A (n.*342G>A)
n.609G>A
c.370G>A (p.Glu124Lys)
c.733G>A (p.Glu245Lys)
Xg.80026800G>CCA413740821TBX22c.730G>C (p.Glu244Gln)
c.*342G>C (n.*342G>C)
n.609G>C
c.370G>C (p.Glu124Gln)
c.733G>C (p.Glu245Gln)
Xg.80026800G>TCA413740822TBX22c.730G>T (p.Glu244Ter)
c.*342G>T (n.*342G>T)
n.609G>T
c.370G>T (p.Glu124Ter)
c.733G>T (p.Glu245Ter)
Xg.80026801A>CCA413740825TBX22c.731A>C (p.Glu244Ala)
c.*343A>C (n.*343A>C)
n.610A>C
c.371A>C (p.Glu124Ala)
c.734A>C (p.Glu245Ala)
Xg.80026801A>GCA413740824TBX22c.731A>G (p.Glu244Gly)
c.*343A>G (n.*343A>G)
n.610A>G
c.371A>G (p.Glu124Gly)
c.734A>G (p.Glu245Gly)
gnomAD v4
Xg.80026801A>TCA413740823TBX22c.731A>T (p.Glu244Val)
c.*343A>T (n.*343A>T)
n.610A>T
c.371A>T (p.Glu124Val)
c.734A>T (p.Glu245Val)
Xg.80026802A>CCA413740826TBX22c.732A>C (p.Glu244Asp)
c.*344A>C (n.*344A>C)
n.611A>C
c.372A>C (p.Glu124Asp)
c.735A>C (p.Glu245Asp)
Xg.80026802A>GCA517403066TBX22c.732A>G (p.Glu244=)
c.*344A>G (n.*344A>G)
n.611A>G
c.372A>G (p.Glu124=)
c.735A>G (p.Glu245=)
Xg.80026802A>TCA413740827TBX22c.732A>T (p.Glu244Asp)
c.*344A>T (n.*344A>T)
n.611A>T
c.372A>T (p.Glu124Asp)
c.735A>T (p.Glu245Asp)
Xg.80026803G>ACA413740828TBX22c.733G>A (p.Gly245Ser)
c.*345G>A (n.*345G>A)
n.612G>A
c.373G>A (p.Gly125Ser)
c.736G>A (p.Gly246Ser)
Xg.80026803G>CCA413740829TBX22c.733G>C (p.Gly245Arg)
c.*345G>C (n.*345G>C)
n.612G>C
c.373G>C (p.Gly125Arg)
c.736G>C (p.Gly246Arg)
Xg.80026803G=CA2439980768TBX22c.733G= (p.Gly245=)
c.*345G= (n.*345G=)
n.612G=
c.373G= (p.Gly125=)
c.736G= (p.Gly246=)
Xg.80026803G>TCA413740830TBX22c.733G>T (p.Gly245Cys)
c.*345G>T (n.*345G>T)
n.612G>T
c.373G>T (p.Gly125Cys)
c.736G>T (p.Gly246Cys)
dbSNP
Xg.80026804G>ACA413740831TBX22c.734G>A (p.Gly245Asp)
c.*346G>A (n.*346G>A)
n.613G>A
c.374G>A (p.Gly125Asp)
c.737G>A (p.Gly246Asp)
dbSNP gnomAD v2 gnomAD v4
Xg.80026804G>CCA413740832TBX22c.734G>C (p.Gly245Ala)
c.*346G>C (n.*346G>C)
n.613G>C
c.374G>C (p.Gly125Ala)
c.737G>C (p.Gly246Ala)
Xg.80026804G=CA2439980769TBX22c.734G= (p.Gly245=)
c.*346G= (n.*346G=)
n.613G=
c.374G= (p.Gly125=)
c.737G= (p.Gly246=)
Xg.80026804G>TCA413740833TBX22c.734G>T (p.Gly245Val)
c.*346G>T (n.*346G>T)
n.613G>T
c.374G>T (p.Gly125Val)
c.737G>T (p.Gly246Val)
Xg.80026805T>ACA517403069TBX22c.735T>A (p.Gly245=)
c.*347T>A (n.*347T>A)
n.614T>A
c.375T>A (p.Gly125=)
c.738T>A (p.Gly246=)
Xg.80026805T>CCA517403067TBX22c.735T>C (p.Gly245=)
c.*347T>C (n.*347T>C)
n.614T>C
c.375T>C (p.Gly125=)
c.738T>C (p.Gly246=)
Xg.80026805T>GCA517403068TBX22c.735T>G (p.Gly245=)
c.*347T>G (n.*347T>G)
n.614T>G
c.375T>G (p.Gly125=)
c.738T>G (p.Gly246=)
Xg.80026806G>ACA413740834TBX22c.736G>A (p.Val246Ile)
c.*348G>A (n.*348G>A)
n.615G>A
c.376G>A (p.Val126Ile)
c.739G>A (p.Val247Ile)
gnomAD v4
Xg.80026806G>CCA413740835TBX22c.736G>C (p.Val246Leu)
c.*348G>C (n.*348G>C)
n.615G>C
c.376G>C (p.Val126Leu)
c.739G>C (p.Val247Leu)
Xg.80026806G>TCA413740836TBX22c.736G>T (p.Val246Phe)
c.*348G>T (n.*348G>T)
n.615G>T
c.376G>T (p.Val126Phe)
c.739G>T (p.Val247Phe)
gnomAD v4
Xg.80026807T>ACA413740838TBX22c.737T>A (p.Val246Asp)
c.*349T>A (n.*349T>A)
n.616T>A
c.377T>A (p.Val126Asp)
c.740T>A (p.Val247Asp)
Xg.80026807T>CCA413740839TBX22c.737T>C (p.Val246Ala)
c.*349T>C (n.*349T>C)
n.616T>C
c.377T>C (p.Val126Ala)
c.740T>C (p.Val247Ala)
Xg.80026807T>GCA413740837TBX22c.737T>G (p.Val246Gly)
c.*349T>G (n.*349T>G)
n.616T>G
c.377T>G (p.Val126Gly)
c.740T>G (p.Val247Gly)
Xg.80026808T>ACA517403070TBX22c.738T>A (p.Val246=)
c.*350T>A (n.*350T>A)
n.617T>A
c.378T>A (p.Val126=)
c.741T>A (p.Val247=)
Xg.80026808T>CCA517403071TBX22c.738T>C (p.Val246=)
c.*350T>C (n.*350T>C)
n.617T>C
c.378T>C (p.Val126=)
c.741T>C (p.Val247=)
Xg.80026808T>GCA517403072TBX22c.738T>G (p.Val246=)
c.*350T>G (n.*350T>G)
n.617T>G
c.378T>G (p.Val126=)
c.741T>G (p.Val247=)
Xg.80026809A>CCA413740840TBX22c.739A>C (p.Lys247Gln)
c.*351A>C (n.*351A>C)
n.618A>C
c.379A>C (p.Lys127Gln)
c.742A>C (p.Lys248Gln)
Xg.80026809A>GCA413740841TBX22c.739A>G (p.Lys247Glu)
c.*351A>G (n.*351A>G)
n.618A>G
c.379A>G (p.Lys127Glu)
c.742A>G (p.Lys248Glu)
Xg.80026809A>TCA413740842TBX22c.739A>T (p.Lys247Ter)
c.*351A>T (n.*351A>T)
n.618A>T
c.379A>T (p.Lys127Ter)
c.742A>T (p.Lys248Ter)
Xg.80026810A>CCA413740843TBX22c.740A>C (p.Lys247Thr)
c.*352A>C (n.*352A>C)
n.619A>C
c.380A>C (p.Lys127Thr)
c.743A>C (p.Lys248Thr)
Xg.80026810A>GCA413740844TBX22c.740A>G (p.Lys247Arg)
c.*352A>G (n.*352A>G)
n.619A>G
c.380A>G (p.Lys127Arg)
c.743A>G (p.Lys248Arg)
Xg.80026810A>TCA413740845TBX22c.740A>T (p.Lys247Ile)
c.*352A>T (n.*352A>T)
n.619A>T
c.380A>T (p.Lys127Ile)
c.743A>T (p.Lys248Ile)
Xg.80026811A>CCA413740847TBX22c.741A>C (p.Lys247Asn)
c.*353A>C (n.*353A>C)
n.620A>C
c.381A>C (p.Lys127Asn)
c.744A>C (p.Lys248Asn)
Xg.80026811A>GCA517403073TBX22c.741A>G (p.Lys247=)
c.*353A>G (n.*353A>G)
n.620A>G
c.381A>G (p.Lys127=)
c.744A>G (p.Lys248=)
Xg.80026811A>TCA413740846TBX22c.741A>T (p.Lys247Asn)
c.*353A>T (n.*353A>T)
n.620A>T
c.381A>T (p.Lys127Asn)
c.744A>T (p.Lys248Asn)
Xg.80026812A>CCA413740848TBX22c.742A>C (p.Thr248Pro)
c.*354A>C (n.*354A>C)
n.621A>C
c.382A>C (p.Thr128Pro)
c.745A>C (p.Thr249Pro)
Xg.80026812A>GCA413740849TBX22c.742A>G (p.Thr248Ala)
c.*354A>G (n.*354A>G)
n.621A>G
c.382A>G (p.Thr128Ala)
c.745A>G (p.Thr249Ala)
Xg.80026812A>TCA413740850TBX22c.742A>T (p.Thr248Ser)
c.*354A>T (n.*354A>T)
n.621A>T
c.382A>T (p.Thr128Ser)
c.745A>T (p.Thr249Ser)
Xg.80026813C>ACA413740851TBX22c.743C>A (p.Thr248Lys)
c.*355C>A (n.*355C>A)
n.622C>A
c.383C>A (p.Thr128Lys)
c.746C>A (p.Thr249Lys)
Xg.80026813C>GCA413740852TBX22c.743C>G (p.Thr248Arg)
c.*355C>G (n.*355C>G)
n.622C>G
c.383C>G (p.Thr128Arg)
c.746C>G (p.Thr249Arg)
Xg.80026813C>TCA413740853TBX22c.743C>T (p.Thr248Ile)
c.*355C>T (n.*355C>T)
n.622C>T
c.383C>T (p.Thr128Ile)
c.746C>T (p.Thr249Ile)
gnomAD v4
Xg.80026814A>CCA517403074TBX22c.744A>C (p.Thr248=)
c.*356A>C (n.*356A>C)
n.623A>C
c.384A>C (p.Thr128=)
c.747A>C (p.Thr249=)
Xg.80026814A>GCA517403075TBX22c.744A>G (p.Thr248=)
c.*356A>G (n.*356A>G)
n.623A>G
c.384A>G (p.Thr128=)
c.747A>G (p.Thr249=)
Xg.80026814A>TCA517403076TBX22c.744A>T (p.Thr248=)
c.*356A>T (n.*356A>T)
n.623A>T
c.384A>T (p.Thr128=)
c.747A>T (p.Thr249=)
gnomAD v4
Xg.80026815T>ACA413740854TBX22c.745T>A (p.Phe249Ile)
c.*357T>A (n.*357T>A)
n.624T>A
c.385T>A (p.Phe129Ile)
c.748T>A (p.Phe250Ile)
Xg.80026815T>CCA413740856TBX22c.745T>C (p.Phe249Leu)
c.*357T>C (n.*357T>C)
n.624T>C
c.385T>C (p.Phe129Leu)
c.748T>C (p.Phe250Leu)
Xg.80026815T>GCA413740855TBX22c.745T>G (p.Phe249Val)
c.*357T>G (n.*357T>G)
n.624T>G
c.385T>G (p.Phe129Val)
c.748T>G (p.Phe250Val)
Xg.80026816T>ACA413740857TBX22c.746T>A (p.Phe249Tyr)
c.*358T>A (n.*358T>A)
n.625T>A
c.386T>A (p.Phe129Tyr)
c.749T>A (p.Phe250Tyr)
gnomAD v4
Xg.80026816T>CCA413740858TBX22c.746T>C (p.Phe249Ser)
c.*358T>C (n.*358T>C)
n.625T>C
c.386T>C (p.Phe129Ser)
c.749T>C (p.Phe250Ser)
Xg.80026816T>GCA413740859TBX22c.746T>G (p.Phe249Cys)
c.*358T>G (n.*358T>G)
n.625T>G
c.386T>G (p.Phe129Cys)
c.749T>G (p.Phe250Cys)
Xg.80026817C>ACA413740860TBX22c.747C>A (p.Phe249Leu)
c.*359C>A (n.*359C>A)
n.626C>A
c.387C>A (p.Phe129Leu)
c.750C>A (p.Phe250Leu)
gnomAD v4
Xg.80026817C>GCA413740861TBX22c.747C>G (p.Phe249Leu)
c.*359C>G (n.*359C>G)
n.626C>G
c.387C>G (p.Phe129Leu)
c.750C>G (p.Phe250Leu)
Xg.80026817C>TCA517403077TBX22c.747C>T (p.Phe249=)
c.*359C>T (n.*359C>T)
n.626C>T
c.387C>T (p.Phe129=)
c.750C>T (p.Phe250=)
gnomAD v4
Xg.80026817_80026818delinsCTCA2439980770TBX22c.747_748delinsCT (p.Phe249=)
c.*359_*360delinsCT (n.*359_*360delinsCT)
n.626_627delinsCT
c.387_388delinsCT (p.Phe129=)
c.750_751delinsCT (p.Phe250=)
Xg.80026818delCA2439980771TBX22c.748del (p.Ser250ProfsTer10)
c.*360del (n.*360del)
n.627del
c.388del (p.Ser130ProfsTer10)
c.751del (p.Ser251ProfsTer10)
dbSNP
Xg.80026818T>ACA413740862TBX22c.748T>A (p.Ser250Thr)
c.*360T>A (n.*360T>A)
n.627T>A
c.388T>A (p.Ser130Thr)
c.751T>A (p.Ser251Thr)
Xg.80026818T>CCA413740863TBX22c.748T>C (p.Ser250Pro)
c.*360T>C (n.*360T>C)
n.627T>C
c.388T>C (p.Ser130Pro)
c.751T>C (p.Ser251Pro)
gnomAD v4
Xg.80026818T>GCA413740864TBX22c.748T>G (p.Ser250Ala)
c.*360T>G (n.*360T>G)
n.627T>G
c.388T>G (p.Ser130Ala)
c.751T>G (p.Ser251Ala)
Xg.80026819C>ACA413740865TBX22c.749C>A (p.Ser250Tyr)
c.*361C>A (n.*361C>A)
n.628C>A
c.389C>A (p.Ser130Tyr)
c.752C>A (p.Ser251Tyr)
Xg.80026819C>GCA413740866TBX22c.749C>G (p.Ser250Cys)
c.*361C>G (n.*361C>G)
n.628C>G
c.389C>G (p.Ser130Cys)
c.752C>G (p.Ser251Cys)
Xg.80026819C>TCA413740867TBX22c.749C>T (p.Ser250Phe)
c.*361C>T (n.*361C>T)
n.628C>T
c.389C>T (p.Ser130Phe)
c.752C>T (p.Ser251Phe)
Xg.80026820C>ACA517403078TBX22c.750C>A (p.Ser250=)
c.*362C>A (n.*362C>A)
n.629C>A
c.390C>A (p.Ser130=)
c.753C>A (p.Ser251=)
Xg.80026820C>GCA517403079TBX22c.750C>G (p.Ser250=)
c.*362C>G (n.*362C>G)
n.629C>G
c.390C>G (p.Ser130=)
c.753C>G (p.Ser251=)
gnomAD v4
Xg.80026820C>TCA517403080TBX22c.750C>T (p.Ser250=)
c.*362C>T (n.*362C>T)
n.629C>T
c.390C>T (p.Ser130=)
c.753C>T (p.Ser251=)
gnomAD v4
Xg.80026820_80026822delCA2524170673TBX22c.750_752del (p.Phe251del)
c.*362_*364del (n.*362_*364del)
n.629_631del
c.390_392del (p.Phe131del)
c.753_755del (p.Phe252del)
Xg.80026821T>ACA413740870TBX22c.751T>A (p.Phe251Ile)
c.*363T>A (n.*363T>A)
n.630T>A
c.391T>A (p.Phe131Ile)
c.754T>A (p.Phe252Ile)
Xg.80026821T>CCA413740869TBX22c.751T>C (p.Phe251Leu)
c.*363T>C (n.*363T>C)
n.630T>C
c.391T>C (p.Phe131Leu)
c.754T>C (p.Phe252Leu)
Xg.80026821T>GCA413740868TBX22c.751T>G (p.Phe251Val)
c.*363T>G (n.*363T>G)
n.630T>G
c.391T>G (p.Phe131Val)
c.754T>G (p.Phe252Val)
Xg.80026822T>ACA413740871TBX22c.752T>A (p.Phe251Tyr)
c.*364T>A (n.*364T>A)
n.631T>A
c.392T>A (p.Phe131Tyr)
c.755T>A (p.Phe252Tyr)
Xg.80026822T>CCA413740873TBX22c.752T>C (p.Phe251Ser)
c.*364T>C (n.*364T>C)
n.631T>C
c.392T>C (p.Phe131Ser)
c.755T>C (p.Phe252Ser)
Xg.80026822T>GCA413740872TBX22c.752T>G (p.Phe251Cys)
c.*364T>G (n.*364T>G)
n.631T>G
c.392T>G (p.Phe131Cys)
c.755T>G (p.Phe252Cys)
Xg.80026823T>ACA413740874TBX22c.753T>A (p.Phe251Leu)
c.*365T>A (n.*365T>A)
n.632T>A
c.393T>A (p.Phe131Leu)
c.756T>A (p.Phe252Leu)
Xg.80026823T>CCA517403081TBX22c.753T>C (p.Phe251=)
c.*365T>C (n.*365T>C)
n.632T>C
c.393T>C (p.Phe131=)
c.756T>C (p.Phe252=)
Xg.80026823T>GCA413740875TBX22c.753T>G (p.Phe251Leu)
c.*365T>G (n.*365T>G)
n.632T>G
c.393T>G (p.Phe131Leu)
c.756T>G (p.Phe252Leu)
Xg.80026824A>CCA413740876TBX22c.754A>C (p.Lys252Gln)
c.*366A>C (n.*366A>C)
n.633A>C
c.394A>C (p.Lys132Gln)
c.757A>C (p.Lys253Gln)
Xg.80026824A>GCA413740877TBX22c.754A>G (p.Lys252Glu)
c.*366A>G (n.*366A>G)
n.633A>G
c.394A>G (p.Lys132Glu)
c.757A>G (p.Lys253Glu)
Xg.80026824A>TCA413740878TBX22c.754A>T (p.Lys252Ter)
c.*366A>T (n.*366A>T)
n.633A>T
c.394A>T (p.Lys132Ter)
c.757A>T (p.Lys253Ter)
Xg.80026825A>CCA413740879TBX22c.755A>C (p.Lys252Thr)
c.*367A>C (n.*367A>C)
n.634A>C
c.395A>C (p.Lys132Thr)
c.758A>C (p.Lys253Thr)
Xg.80026825A>GCA413740880TBX22c.755A>G (p.Lys252Arg)
c.*367A>G (n.*367A>G)
n.634A>G
c.395A>G (p.Lys132Arg)
c.758A>G (p.Lys253Arg)
Xg.80026825A>TCA413740881TBX22c.755A>T (p.Lys252Ile)
c.*367A>T (n.*367A>T)
n.634A>T
c.395A>T (p.Lys132Ile)
c.758A>T (p.Lys253Ile)
Xg.80026826A>CCA413740882TBX22c.756A>C (p.Lys252Asn)
c.*368A>C (n.*368A>C)
n.635A>C
c.396A>C (p.Lys132Asn)
c.759A>C (p.Lys253Asn)
Xg.80026826A>GCA517403082TBX22c.756A>G (p.Lys252=)
c.*368A>G (n.*368A>G)
n.635A>G
c.396A>G (p.Lys132=)
c.759A>G (p.Lys253=)
Xg.80026826A>TCA413740883TBX22c.756A>T (p.Lys252Asn)
c.*368A>T (n.*368A>T)
n.635A>T
c.396A>T (p.Lys132Asn)
c.759A>T (p.Lys253Asn)
Xg.80026827G>ACA331778193TBX22c.757G>A (p.Glu253Lys)
c.*369G>A (n.*369G>A)
n.636G>A
c.397G>A (p.Glu133Lys)
c.760G>A (p.Glu254Lys)
dbSNP
Xg.80026827G>CCA413740885TBX22c.757G>C (p.Glu253Gln)
c.*369G>C (n.*369G>C)
n.636G>C
c.397G>C (p.Glu133Gln)
c.760G>C (p.Glu254Gln)
Xg.80026827G=CA2439980772TBX22c.757G= (p.Glu253=)
c.*369G= (n.*369G=)
n.636G=
c.397G= (p.Glu133=)
c.760G= (p.Glu254=)
Xg.80026827G>TCA413740884TBX22c.757G>T (p.Glu253Ter)
c.*369G>T (n.*369G>T)
n.636G>T
c.397G>T (p.Glu133Ter)
c.760G>T (p.Glu254Ter)
Xg.80026828A>CCA413740886TBX22c.758A>C (p.Glu253Ala)
c.*370A>C (n.*370A>C)
n.637A>C
c.398A>C (p.Glu133Ala)
c.761A>C (p.Glu254Ala)
Xg.80026828A>GCA413740887TBX22c.758A>G (p.Glu253Gly)
c.*370A>G (n.*370A>G)
n.637A>G
c.398A>G (p.Glu133Gly)
c.761A>G (p.Glu254Gly)
Xg.80026828A>TCA413740888TBX22c.758A>T (p.Glu253Val)
c.*370A>T (n.*370A>T)
n.637A>T
c.398A>T (p.Glu133Val)
c.761A>T (p.Glu254Val)
Xg.80026829A>CCA413740889TBX22c.759A>C (p.Glu253Asp)
c.*371A>C (n.*371A>C)
n.638A>C
c.399A>C (p.Glu133Asp)
c.762A>C (p.Glu254Asp)
Xg.80026829A>GCA517403083TBX22c.759A>G (p.Glu253=)
c.*371A>G (n.*371A>G)
n.638A>G
c.399A>G (p.Glu133=)
c.762A>G (p.Glu254=)
Xg.80026829A>TCA413740890TBX22c.759A>T (p.Glu253Asp)
c.*371A>T (n.*371A>T)
n.638A>T
c.399A>T (p.Glu133Asp)
c.762A>T (p.Glu254Asp)
Xg.80026830A>CCA413740891TBX22c.760A>C (p.Thr254Pro)
c.*372A>C (n.*372A>C)
n.639A>C
c.400A>C (p.Thr134Pro)
c.763A>C (p.Thr255Pro)
Xg.80026830A>GCA413740892TBX22c.760A>G (p.Thr254Ala)
c.*372A>G (n.*372A>G)
n.639A>G
c.400A>G (p.Thr134Ala)
c.763A>G (p.Thr255Ala)
Xg.80026830A>TCA413740893TBX22c.760A>T (p.Thr254Ser)
c.*372A>T (n.*372A>T)
n.639A>T
c.400A>T (p.Thr134Ser)
c.763A>T (p.Thr255Ser)
Xg.80026831C>ACA413740894TBX22c.761C>A (p.Thr254Asn)
c.*373C>A (n.*373C>A)
n.640C>A
c.401C>A (p.Thr134Asn)
c.764C>A (p.Thr255Asn)
Xg.80026831C>GCA413740895TBX22c.761C>G (p.Thr254Ser)
c.*373C>G (n.*373C>G)
n.640C>G
c.401C>G (p.Thr134Ser)
c.764C>G (p.Thr255Ser)
Xg.80026831C>TCA413740896TBX22c.761C>T (p.Thr254Ile)
c.*373C>T (n.*373C>T)
n.640C>T
c.401C>T (p.Thr134Ile)
c.764C>T (p.Thr255Ile)
Xg.80026832delCA2694191737TBX22c.762del (p.Glu255SerfsTer5)
c.*374del (n.*374del)
n.641del
c.402del (p.Glu135SerfsTer5)
c.765del (p.Glu256SerfsTer5)
gnomAD v4
Xg.80026832T>ACA517403084TBX22c.762T>A (p.Thr254=)
c.*374T>A (n.*374T>A)
n.641T>A
c.402T>A (p.Thr134=)
c.765T>A (p.Thr255=)
Xg.80026832T>CCA517403086TBX22c.762T>C (p.Thr254=)
c.*374T>C (n.*374T>C)
n.641T>C
c.402T>C (p.Thr134=)
c.765T>C (p.Thr255=)
Xg.80026832T>GCA517403085TBX22c.762T>G (p.Thr254=)
c.*374T>G (n.*374T>G)
n.641T>G
c.402T>G (p.Thr134=)
c.765T>G (p.Thr255=)
Xg.80026833G>ACA413740898TBX22c.763G>A (p.Glu255Lys)
c.*375G>A (n.*375G>A)
n.642G>A
c.403G>A (p.Glu135Lys)
c.766G>A (p.Glu256Lys)
COSMIC
Xg.80026833G>CCA413740899TBX22c.763G>C (p.Glu255Gln)
c.*375G>C (n.*375G>C)
n.642G>C
c.403G>C (p.Glu135Gln)
c.766G>C (p.Glu256Gln)
Xg.80026833G>TCA413740897TBX22c.763G>T (p.Glu255Ter)
c.*375G>T (n.*375G>T)
n.642G>T
c.403G>T (p.Glu135Ter)
c.766G>T (p.Glu256Ter)
Xg.80026834A=CA2439980773TBX22c.764A= (p.Glu255=)
c.*376A= (n.*376A=)
n.643A=
c.404A= (p.Glu135=)
c.767A= (p.Glu256=)
Xg.80026834A>CCA413740900TBX22c.764A>C (p.Glu255Ala)
c.*376A>C (n.*376A>C)
n.643A>C
c.404A>C (p.Glu135Ala)
c.767A>C (p.Glu256Ala)
gnomAD v4
Xg.80026834A>GCA10461290TBX22c.764A>G (p.Glu255Gly)
c.*376A>G (n.*376A>G)
n.643A>G
c.404A>G (p.Glu135Gly)
c.767A>G (p.Glu256Gly)
dbSNP ExAC
Xg.80026834A>TCA413740901TBX22c.764A>T (p.Glu255Val)
c.*376A>T (n.*376A>T)
n.643A>T
c.404A>T (p.Glu135Val)
c.767A>T (p.Glu256Val)
Xg.80026835G>ACA517403087TBX22c.765G>A (p.Glu255=)
c.*377G>A (n.*377G>A)
n.644G>A
c.405G>A (p.Glu135=)
c.768G>A (p.Glu256=)
Xg.80026835G>CCA413740902TBX22c.765G>C (p.Glu255Asp)
c.*377G>C (n.*377G>C)
n.644G>C
c.405G>C (p.Glu135Asp)
c.768G>C (p.Glu256Asp)
Xg.80026835G>TCA413740903TBX22c.765G>T (p.Glu255Asp)
c.*377G>T (n.*377G>T)
n.644G>T
c.405G>T (p.Glu135Asp)
c.768G>T (p.Glu256Asp)
Xg.80026836T>ACA413740904TBX22c.766T>A (p.Phe256Ile)
c.*378T>A (n.*378T>A)
n.645T>A
c.406T>A (p.Phe136Ile)
c.769T>A (p.Phe257Ile)
ClinVar dbSNP
Xg.80026836T>CCA413740905TBX22c.766T>C (p.Phe256Leu)
c.*378T>C (n.*378T>C)
n.645T>C
c.406T>C (p.Phe136Leu)
c.769T>C (p.Phe257Leu)
Xg.80026836T>GCA413740906TBX22c.766T>G (p.Phe256Val)
c.*378T>G (n.*378T>G)
n.645T>G
c.406T>G (p.Phe136Val)
c.769T>G (p.Phe257Val)
Xg.80026837T>ACA413740907TBX22c.767T>A (p.Phe256Tyr)
c.*379T>A (n.*379T>A)
n.646T>A
c.407T>A (p.Phe136Tyr)
c.770T>A (p.Phe257Tyr)
Xg.80026837T>CCA413740908TBX22c.767T>C (p.Phe256Ser)
c.*379T>C (n.*379T>C)
n.646T>C
c.407T>C (p.Phe136Ser)
c.770T>C (p.Phe257Ser)
Xg.80026837T>GCA413740909TBX22c.767T>G (p.Phe256Cys)
c.*379T>G (n.*379T>G)
n.646T>G
c.407T>G (p.Phe136Cys)
c.770T>G (p.Phe257Cys)
Xg.80026838C>ACA413740910TBX22c.768C>A (p.Phe256Leu)
c.*380C>A (n.*380C>A)
n.647C>A
c.408C>A (p.Phe136Leu)
c.771C>A (p.Phe257Leu)
Xg.80026838C=CA2439980774TBX22c.768C= (p.Phe256=)
c.*380C= (n.*380C=)
n.647C=
c.408C= (p.Phe136=)
c.771C= (p.Phe257=)
Xg.80026838C>GCA413740911TBX22c.768C>G (p.Phe256Leu)
c.*380C>G (n.*380C>G)
n.647C>G
c.408C>G (p.Phe136Leu)
c.771C>G (p.Phe257Leu)
Xg.80026838C>TCA517403088TBX22c.768C>T (p.Phe256=)
c.*380C>T (n.*380C>T)
n.647C>T
c.408C>T (p.Phe136=)
c.771C>T (p.Phe257=)
dbSNP gnomAD v2 gnomAD v4
Xg.80026839A>CCA413740914TBX22c.769A>C (p.Thr257Pro)
c.*381A>C (n.*381A>C)
n.648A>C
c.409A>C (p.Thr137Pro)
c.772A>C (p.Thr258Pro)
Xg.80026839A>GCA413740913TBX22c.769A>G (p.Thr257Ala)
c.*381A>G (n.*381A>G)
n.648A>G
c.409A>G (p.Thr137Ala)
c.772A>G (p.Thr258Ala)
gnomAD v4
Xg.80026839A>TCA413740912TBX22c.769A>T (p.Thr257Ser)
c.*381A>T (n.*381A>T)
n.648A>T
c.409A>T (p.Thr137Ser)
c.772A>T (p.Thr258Ser)
Xg.80026840C>ACA413740915TBX22c.770C>A (p.Thr257Asn)
c.*382C>A (n.*382C>A)
n.649C>A
c.410C>A (p.Thr137Asn)
c.773C>A (p.Thr258Asn)
Xg.80026840C=CA2439980775TBX22c.770C= (p.Thr257=)
c.*382C= (n.*382C=)
n.649C=
c.410C= (p.Thr137=)
c.773C= (p.Thr258=)
Xg.80026840C>GCA10461292TBX22c.770C>G (p.Thr257Ser)
c.*382C>G (n.*382C>G)
n.649C>G
c.410C>G (p.Thr137Ser)
c.773C>G (p.Thr258Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80026840C>TCA10461291TBX22c.770C>T (p.Thr257Ile)
c.*382C>T (n.*382C>T)
n.649C>T
c.410C>T (p.Thr137Ile)
c.773C>T (p.Thr258Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026840_80026841insACCCAACA2822025073TBX22c.770_771insACCCAA (p.Thr257_Thr258insProAsn)
c.*382_*383insACCCAA (n.*382_*383insACCCAA)
n.649_650insACCCAA
c.410_411insACCCAA (p.Thr137_Thr138insProAsn)
c.773_774insACCCAA (p.Thr258_Thr259insProAsn)
Xg.80026841C>ACA517403089TBX22c.771C>A (p.Thr257=)
c.*383C>A (n.*383C>A)
n.650C>A
c.411C>A (p.Thr137=)
c.774C>A (p.Thr258=)
Xg.80026841C>GCA517403090TBX22c.771C>G (p.Thr257=)
c.*383C>G (n.*383C>G)
n.650C>G
c.411C>G (p.Thr137=)
c.774C>G (p.Thr258=)
Xg.80026841C>TCA517403091TBX22c.771C>T (p.Thr257=)
c.*383C>T (n.*383C>T)
n.650C>T
c.411C>T (p.Thr137=)
c.774C>T (p.Thr258=)
Xg.80026841_80026842insCAACCA2822025074TBX22c.771_772insCAAC (p.Thr258GlnfsTer23)
c.*383_*384insCAAC (n.*383_*384insCAAC)
n.650_651insCAAC
c.411_412insCAAC (p.Thr138GlnfsTer23)
c.774_775insCAAC (p.Thr259GlnfsTer23)
Xg.80026842A>CCA413740916TBX22c.772A>C (p.Thr258Pro)
c.*384A>C (n.*384A>C)
n.651A>C
c.412A>C (p.Thr138Pro)
c.775A>C (p.Thr259Pro)
Xg.80026842A>GCA413740917TBX22c.772A>G (p.Thr258Ala)
c.*384A>G (n.*384A>G)
n.651A>G
c.412A>G (p.Thr138Ala)
c.775A>G (p.Thr259Ala)
gnomAD v4
Xg.80026842A>TCA413740918TBX22c.772A>T (p.Thr258Ser)
c.*384A>T (n.*384A>T)
n.651A>T
c.412A>T (p.Thr138Ser)
c.775A>T (p.Thr259Ser)
gnomAD v4
Xg.80026843C>ACA413740919TBX22c.773C>A (p.Thr258Lys)
c.*385C>A (n.*385C>A)
n.652C>A
c.413C>A (p.Thr138Lys)
c.776C>A (p.Thr259Lys)
Xg.80026843C=CA2439980776TBX22c.773C= (p.Thr258=)
c.*385C= (n.*385C=)
n.652C=
c.413C= (p.Thr138=)
c.776C= (p.Thr259=)
Xg.80026843C>GCA413740920TBX22c.773C>G (p.Thr258Arg)
c.*385C>G (n.*385C>G)
n.652C>G
c.413C>G (p.Thr138Arg)
c.776C>G (p.Thr259Arg)
Xg.80026843C>TCA10461293TBX22c.773C>T (p.Thr258Ile)
c.*385C>T (n.*385C>T)
n.652C>T
c.413C>T (p.Thr138Ile)
c.776C>T (p.Thr259Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80026844A=CA2439980777TBX22c.774A= (p.Thr258=)
c.*386A= (n.*386A=)
n.653A=
c.414A= (p.Thr138=)
c.777A= (p.Thr259=)
Xg.80026844A>CCA10461294TBX22c.774A>C (p.Thr258=)
c.*386A>C (n.*386A>C)
n.653A>C
c.414A>C (p.Thr138=)
c.777A>C (p.Thr259=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80026844A>GCA517403093TBX22c.774A>G (p.Thr258=)
c.*386A>G (n.*386A>G)
n.653A>G
c.414A>G (p.Thr138=)
c.777A>G (p.Thr259=)
Xg.80026844A>TCA517403092TBX22c.774A>T (p.Thr258=)
c.*386A>T (n.*386A>T)
n.653A>T
c.414A>T (p.Thr138=)
c.777A>T (p.Thr259=)
gnomAD v4
Xg.80026845G>ACA413740921TBX22c.775G>A (p.Val259Ile)
c.*387G>A (n.*387G>A)
n.654G>A
c.415G>A (p.Val139Ile)
c.778G>A (p.Val260Ile)
Xg.80026845G>CCA413740922TBX22c.775G>C (p.Val259Leu)
c.*387G>C (n.*387G>C)
n.654G>C
c.415G>C (p.Val139Leu)
c.778G>C (p.Val260Leu)
COSMIC
Xg.80026845G>TCA413740923TBX22c.775G>T (p.Val259Leu)
c.*387G>T (n.*387G>T)
n.654G>T
c.415G>T (p.Val139Leu)
c.778G>T (p.Val260Leu)

Number of alleles fetched