Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.80025599dupCA10461245TBX22c.459-4dup (n.459-4dup)
c.*71-4dup (n.*71-4dup)
n.338-4dup
c.99-4dup (n.99-4dup)
c.462-4dup (n.462-4dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80025599_80025600delCA2521066915TBX22c.459-4_459-3del (n.459-4_459-3del)
c.*71-4_*71-3del (n.*71-4_*71-3del)
n.338-4_338-3del
c.99-4_99-3del (n.99-4_99-3del)
c.462-4_462-3del (n.462-4_462-3del)
Xg.80025601A=CA2439980328TBX22c.459-2A= (n.459-2A=)
c.*71-2A= (n.*71-2A=)
n.338-2A=
c.99-2A= (n.99-2A=)
c.462-2A= (n.462-2A=)
Xg.80025601A>CCA413740184TBX22c.459-2A>C (n.459-2A>C)
c.*71-2A>C (n.*71-2A>C)
n.338-2A>C
c.99-2A>C (n.99-2A>C)
c.462-2A>C (n.462-2A>C)
Xg.80025601A>GCA413740185TBX22c.459-2A>G (n.459-2A>G)
c.*71-2A>G (n.*71-2A>G)
n.338-2A>G
c.99-2A>G (n.99-2A>G)
c.462-2A>G (n.462-2A>G)
Xg.80025601A>TCA413740186TBX22c.459-2A>T (n.459-2A>T)
c.*71-2A>T (n.*71-2A>T)
n.338-2A>T
c.99-2A>T (n.99-2A>T)
c.462-2A>T (n.462-2A>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.80025601_80025602delCA2579651927TBX22c.459-2_459-1del (n.459-2_459-1del)
c.*71-2_*71-1del (n.*71-2_*71-1del)
n.338-2_338-1del
c.99-2_99-1del (n.99-2_99-1del)
c.462-2_462-1del (n.462-2_462-1del)
Xg.80025602G>ACA413740187TBX22c.459-1G>A (n.459-1G>A)
c.*71-1G>A (n.*71-1G>A)
n.338-1G>A
c.99-1G>A (n.99-1G>A)
c.462-1G>A (n.462-1G>A)
Xg.80025602G>CCA413740188TBX22c.459-1G>C (n.459-1G>C)
c.*71-1G>C (n.*71-1G>C)
n.338-1G>C
c.99-1G>C (n.99-1G>C)
c.462-1G>C (n.462-1G>C)
Xg.80025602G>TCA413740189TBX22c.459-1G>T (n.459-1G>T)
c.*71-1G>T (n.*71-1G>T)
n.338-1G>T
c.99-1G>T (n.99-1G>T)
c.462-1G>T (n.462-1G>T)
Xg.80025603G>ACA517402889TBX22c.459G>A (p.Arg153=)
c.*71G>A (n.*71G>A)
n.338G>A
c.99G>A (p.Arg33=)
c.462G>A (p.Arg154=)
Xg.80025603G>CCA413740190TBX22c.459G>C (p.Arg153Ser)
c.*71G>C (n.*71G>C)
n.338G>C
c.99G>C (p.Arg33Ser)
c.462G>C (p.Arg154Ser)
Xg.80025603G>TCA413740191TBX22c.459G>T (p.Arg153Ser)
c.*71G>T (n.*71G>T)
n.338G>T
c.99G>T (p.Arg33Ser)
c.462G>T (p.Arg154Ser)
Xg.80025604T>ACA413740192TBX22c.460T>A (p.Tyr154Asn)
c.*72T>A (n.*72T>A)
n.339T>A
c.100T>A (p.Tyr34Asn)
c.463T>A (p.Tyr155Asn)
Xg.80025604T>CCA413740193TBX22c.460T>C (p.Tyr154His)
c.*72T>C (n.*72T>C)
n.339T>C
c.100T>C (p.Tyr34His)
c.463T>C (p.Tyr155His)
Xg.80025604T>GCA413740194TBX22c.460T>G (p.Tyr154Asp)
c.*72T>G (n.*72T>G)
n.339T>G
c.100T>G (p.Tyr34Asp)
c.463T>G (p.Tyr155Asp)
Xg.80025605A>CCA413740195TBX22c.461A>C (p.Tyr154Ser)
c.*73A>C (n.*73A>C)
n.340A>C
c.101A>C (p.Tyr34Ser)
c.464A>C (p.Tyr155Ser)
Xg.80025605A>GCA413740197TBX22c.461A>G (p.Tyr154Cys)
c.*73A>G (n.*73A>G)
n.340A>G
c.101A>G (p.Tyr34Cys)
c.464A>G (p.Tyr155Cys)
Xg.80025605A>TCA413740196TBX22c.461A>T (p.Tyr154Phe)
c.*73A>T (n.*73A>T)
n.340A>T
c.101A>T (p.Tyr34Phe)
c.464A>T (p.Tyr155Phe)
Xg.80025606C>ACA413740198TBX22c.462C>A (p.Tyr154Ter)
c.*74C>A (n.*74C>A)
n.341C>A
c.102C>A (p.Tyr34Ter)
c.465C>A (p.Tyr155Ter)
 COSMIC
Xg.80025606C=CA2439980329TBX22c.462C= (p.Tyr154=)
c.*74C= (n.*74C=)
n.341C=
c.102C= (p.Tyr34=)
c.465C= (p.Tyr155=)
Xg.80025606C>GCA413740199TBX22c.462C>G (p.Tyr154Ter)
c.*74C>G (n.*74C>G)
n.341C>G
c.102C>G (p.Tyr34Ter)
c.465C>G (p.Tyr155Ter)
Xg.80025606C>TCA517402890TBX22c.462C>T (p.Tyr154=)
c.*74C>T (n.*74C>T)
n.341C>T
c.102C>T (p.Tyr34=)
c.465C>T (p.Tyr155=)
 dbSNP gnomAD v4
Xg.80025607G>ACA413740200TBX22c.463G>A (p.Val155Ile)
c.*75G>A (n.*75G>A)
n.342G>A
c.103G>A (p.Val35Ile)
c.466G>A (p.Val156Ile)
 dbSNP gnomAD v2 gnomAD v4
Xg.80025607G>CCA413740201TBX22c.463G>C (p.Val155Leu)
c.*75G>C (n.*75G>C)
n.342G>C
c.103G>C (p.Val35Leu)
c.466G>C (p.Val156Leu)
 dbSNP COSMIC
Xg.80025607G=CA2439980330TBX22c.463G= (p.Val155=)
c.*75G= (n.*75G=)
n.342G=
c.103G= (p.Val35=)
c.466G= (p.Val156=)
Xg.80025607G>TCA413740202TBX22c.463G>T (p.Val155Phe)
c.*75G>T (n.*75G>T)
n.342G>T
c.103G>T (p.Val35Phe)
c.466G>T (p.Val156Phe)
 COSMIC
Xg.80025608T>ACA413740203TBX22c.464T>A (p.Val155Asp)
c.*76T>A (n.*76T>A)
n.343T>A
c.104T>A (p.Val35Asp)
c.467T>A (p.Val156Asp)
Xg.80025608T>CCA413740204TBX22c.464T>C (p.Val155Ala)
c.*76T>C (n.*76T>C)
n.343T>C
c.104T>C (p.Val35Ala)
c.467T>C (p.Val156Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.80025608T>GCA413740205TBX22c.464T>G (p.Val155Gly)
c.*76T>G (n.*76T>G)
n.343T>G
c.104T>G (p.Val35Gly)
c.467T>G (p.Val156Gly)
Xg.80025608T=CA2439980331TBX22c.464T= (p.Val155=)
c.*76T= (n.*76T=)
n.343T=
c.104T= (p.Val35=)
c.467T= (p.Val156=)
Xg.80025609C>ACA517402893TBX22c.465C>A (p.Val155=)
c.*77C>A (n.*77C>A)
n.344C>A
c.105C>A (p.Val35=)
c.468C>A (p.Val156=)
 dbSNP gnomAD v2
Xg.80025609C=CA2439980332TBX22c.465C= (p.Val155=)
c.*77C= (n.*77C=)
n.344C=
c.105C= (p.Val35=)
c.468C= (p.Val156=)
Xg.80025609C>GCA517402892TBX22c.465C>G (p.Val155=)
c.*77C>G (n.*77C>G)
n.344C>G
c.105C>G (p.Val35=)
c.468C>G (p.Val156=)
Xg.80025609C>TCA517402891TBX22c.465C>T (p.Val155=)
c.*77C>T (n.*77C>T)
n.344C>T
c.105C>T (p.Val35=)
c.468C>T (p.Val156=)
Xg.80025610T>ACA413740206TBX22c.466T>A (p.Tyr156Asn)
c.*78T>A (n.*78T>A)
n.345T>A
c.106T>A (p.Tyr36Asn)
c.469T>A (p.Tyr157Asn)
Xg.80025610T>CCA413740207TBX22c.466T>C (p.Tyr156His)
c.*78T>C (n.*78T>C)
n.345T>C
c.106T>C (p.Tyr36His)
c.469T>C (p.Tyr157His)
Xg.80025610T>GCA413740208TBX22c.466T>G (p.Tyr156Asp)
c.*78T>G (n.*78T>G)
n.345T>G
c.106T>G (p.Tyr36Asp)
c.469T>G (p.Tyr157Asp)
Xg.80025611A=CA2439980333TBX22c.467A= (p.Tyr156=)
c.*79A= (n.*79A=)
n.346A=
c.107A= (p.Tyr36=)
c.470A= (p.Tyr157=)
Xg.80025611A>CCA413740209TBX22c.467A>C (p.Tyr156Ser)
c.*79A>C (n.*79A>C)
n.346A>C
c.107A>C (p.Tyr36Ser)
c.470A>C (p.Tyr157Ser)
Xg.80025611A>GCA413740210TBX22c.467A>G (p.Tyr156Cys)
c.*79A>G (n.*79A>G)
n.346A>G
c.107A>G (p.Tyr36Cys)
c.470A>G (p.Tyr157Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.80025611A>TCA413740211TBX22c.467A>T (p.Tyr156Phe)
c.*79A>T (n.*79A>T)
n.346A>T
c.107A>T (p.Tyr36Phe)
c.470A>T (p.Tyr157Phe)
Xg.80025612T>ACA413740212TBX22c.468T>A (p.Tyr156Ter)
c.*80T>A (n.*80T>A)
n.347T>A
c.108T>A (p.Tyr36Ter)
c.471T>A (p.Tyr157Ter)
Xg.80025612T>CCA517402894TBX22c.468T>C (p.Tyr156=)
c.*80T>C (n.*80T>C)
n.347T>C
c.108T>C (p.Tyr36=)
c.471T>C (p.Tyr157=)
Xg.80025612T>GCA413740213TBX22c.468T>G (p.Tyr156Ter)
c.*80T>G (n.*80T>G)
n.347T>G
c.108T>G (p.Tyr36Ter)
c.471T>G (p.Tyr157Ter)
Xg.80025613C>ACA413740214TBX22c.469C>A (p.His157Asn)
c.*81C>A (n.*81C>A)
n.348C>A
c.109C>A (p.His37Asn)
c.472C>A (p.His158Asn)
Xg.80025613C=CA2439980334TBX22c.469C= (p.His157=)
c.*81C= (n.*81C=)
n.348C=
c.109C= (p.His37=)
c.472C= (p.His158=)
Xg.80025613C>GCA413740215TBX22c.469C>G (p.His157Asp)
c.*81C>G (n.*81C>G)
n.348C>G
c.109C>G (p.His37Asp)
c.472C>G (p.His158Asp)
Xg.80025613C>TCA10461246TBX22c.469C>T (p.His157Tyr)
c.*81C>T (n.*81C>T)
n.348C>T
c.109C>T (p.His37Tyr)
c.472C>T (p.His158Tyr)
 dbSNP ExAC gnomAD v2
Xg.80025614A>CCA413740216TBX22c.470A>C (p.His157Pro)
c.*82A>C (n.*82A>C)
n.349A>C
c.110A>C (p.His37Pro)
c.473A>C (p.His158Pro)
Xg.80025614A>GCA413740217TBX22c.470A>G (p.His157Arg)
c.*82A>G (n.*82A>G)
n.349A>G
c.110A>G (p.His37Arg)
c.473A>G (p.His158Arg)
Xg.80025614A>TCA413740218TBX22c.470A>T (p.His157Leu)
c.*82A>T (n.*82A>T)
n.349A>T
c.110A>T (p.His37Leu)
c.473A>T (p.His158Leu)
Xg.80025615C>ACA413740219TBX22c.471C>A (p.His157Gln)
c.*83C>A (n.*83C>A)
n.350C>A
c.111C>A (p.His37Gln)
c.474C>A (p.His158Gln)
Xg.80025615C>GCA413740220TBX22c.471C>G (p.His157Gln)
c.*83C>G (n.*83C>G)
n.350C>G
c.111C>G (p.His37Gln)
c.474C>G (p.His158Gln)
Xg.80025615C>TCA517402895TBX22c.471C>T (p.His157=)
c.*83C>T (n.*83C>T)
n.350C>T
c.111C>T (p.His37=)
c.474C>T (p.His158=)
Xg.80025616A=CA2439980335TBX22c.472A= (p.Ser158=)
c.*84A= (n.*84A=)
n.351A=
c.112A= (p.Ser38=)
c.475A= (p.Ser159=)
Xg.80025616A>CCA413740221TBX22c.472A>C (p.Ser158Arg)
c.*84A>C (n.*84A>C)
n.351A>C
c.112A>C (p.Ser38Arg)
c.475A>C (p.Ser159Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.80025616A>GCA413740222TBX22c.472A>G (p.Ser158Gly)
c.*84A>G (n.*84A>G)
n.351A>G
c.112A>G (p.Ser38Gly)
c.475A>G (p.Ser159Gly)
 COSMIC
Xg.80025616A>TCA413740223TBX22c.472A>T (p.Ser158Cys)
c.*84A>T (n.*84A>T)
n.351A>T
c.112A>T (p.Ser38Cys)
c.475A>T (p.Ser159Cys)
Xg.80025617G>ACA413740225TBX22c.473G>A (p.Ser158Asn)
c.*85G>A (n.*85G>A)
n.352G>A
c.113G>A (p.Ser38Asn)
c.476G>A (p.Ser159Asn)
 gnomAD v4
Xg.80025617G>CCA413740226TBX22c.473G>C (p.Ser158Thr)
c.*85G>C (n.*85G>C)
n.352G>C
c.113G>C (p.Ser38Thr)
c.476G>C (p.Ser159Thr)
Xg.80025617G>TCA413740224TBX22c.473G>T (p.Ser158Ile)
c.*85G>T (n.*85G>T)
n.352G>T
c.113G>T (p.Ser38Ile)
c.476G>T (p.Ser159Ile)
Xg.80025618C>ACA413740227TBX22c.474C>A (p.Ser158Arg)
c.*86C>A (n.*86C>A)
n.353C>A
c.114C>A (p.Ser38Arg)
c.477C>A (p.Ser159Arg)
Xg.80025618C=CA2439980336TBX22c.474C= (p.Ser158=)
c.*86C= (n.*86C=)
n.353C=
c.114C= (p.Ser38=)
c.477C= (p.Ser159=)
Xg.80025618C>GCA413740228TBX22c.474C>G (p.Ser158Arg)
c.*86C>G (n.*86C>G)
n.353C>G
c.114C>G (p.Ser38Arg)
c.477C>G (p.Ser159Arg)
Xg.80025618C>TCA517402896TBX22c.474C>T (p.Ser158=)
c.*86C>T (n.*86C>T)
n.353C>T
c.114C>T (p.Ser38=)
c.477C>T (p.Ser159=)
 dbSNP gnomAD v2
Xg.80025619T>ACA413740229TBX22c.475T>A (p.Ser159Thr)
c.*87T>A (n.*87T>A)
n.354T>A
c.115T>A (p.Ser39Thr)
c.478T>A (p.Ser160Thr)
Xg.80025619T>CCA413740230TBX22c.475T>C (p.Ser159Pro)
c.*87T>C (n.*87T>C)
n.354T>C
c.115T>C (p.Ser39Pro)
c.478T>C (p.Ser160Pro)
Xg.80025619T>GCA413740231TBX22c.475T>G (p.Ser159Ala)
c.*87T>G (n.*87T>G)
n.354T>G
c.115T>G (p.Ser39Ala)
c.478T>G (p.Ser160Ala)
Xg.80025620C>ACA413740232TBX22c.476C>A (p.Ser159Ter)
c.*88C>A (n.*88C>A)
n.355C>A
c.116C>A (p.Ser39Ter)
c.479C>A (p.Ser160Ter)
Xg.80025620C>GCA413740233TBX22c.476C>G (p.Ser159Ter)
c.*88C>G (n.*88C>G)
n.355C>G
c.116C>G (p.Ser39Ter)
c.479C>G (p.Ser160Ter)
Xg.80025620C>TCA413740234TBX22c.476C>T (p.Ser159Leu)
c.*88C>T (n.*88C>T)
n.355C>T
c.116C>T (p.Ser39Leu)
c.479C>T (p.Ser160Leu)
Xg.80025621A>CCA517402897TBX22c.477A>C (p.Ser159=)
c.*89A>C (n.*89A>C)
n.356A>C
c.117A>C (p.Ser39=)
c.480A>C (p.Ser160=)
 gnomAD v4
Xg.80025621A>GCA517402898TBX22c.477A>G (p.Ser159=)
c.*89A>G (n.*89A>G)
n.356A>G
c.117A>G (p.Ser39=)
c.480A>G (p.Ser160=)
Xg.80025621A>TCA517402899TBX22c.477A>T (p.Ser159=)
c.*89A>T (n.*89A>T)
n.356A>T
c.117A>T (p.Ser39=)
c.480A>T (p.Ser160=)
Xg.80025622C>ACA413740235TBX22c.478C>A (p.Gln160Lys)
c.*90C>A (n.*90C>A)
n.357C>A
c.118C>A (p.Gln40Lys)
c.481C>A (p.Gln161Lys)
 gnomAD v4
Xg.80025622C>GCA413740236TBX22c.478C>G (p.Gln160Glu)
c.*90C>G (n.*90C>G)
n.357C>G
c.118C>G (p.Gln40Glu)
c.481C>G (p.Gln161Glu)
Xg.80025622C>TCA413740237TBX22c.478C>T (p.Gln160Ter)
c.*90C>T (n.*90C>T)
n.357C>T
c.118C>T (p.Gln40Ter)
c.481C>T (p.Gln161Ter)
Xg.80025623A=CA2439980337TBX22c.479A= (p.Gln160=)
c.*91A= (n.*91A=)
n.358A=
c.119A= (p.Gln40=)
c.482A= (p.Gln161=)
Xg.80025623A>CCA413740239TBX22c.479A>C (p.Gln160Pro)
c.*91A>C (n.*91A>C)
n.358A>C
c.119A>C (p.Gln40Pro)
c.482A>C (p.Gln161Pro)
Xg.80025623A>GCA413740240TBX22c.479A>G (p.Gln160Arg)
c.*91A>G (n.*91A>G)
n.358A>G
c.119A>G (p.Gln40Arg)
c.482A>G (p.Gln161Arg)
 dbSNP
Xg.80025623A>TCA413740238TBX22c.479A>T (p.Gln160Leu)
c.*91A>T (n.*91A>T)
n.358A>T
c.119A>T (p.Gln40Leu)
c.482A>T (p.Gln161Leu)
Xg.80025624G>ACA517402900TBX22c.480G>A (p.Gln160=)
c.*92G>A (n.*92G>A)
n.359G>A
c.120G>A (p.Gln40=)
c.483G>A (p.Gln161=)
Xg.80025624G>CCA413740241TBX22c.480G>C (p.Gln160His)
c.*92G>C (n.*92G>C)
n.359G>C
c.120G>C (p.Gln40His)
c.483G>C (p.Gln161His)
Xg.80025624G>TCA413740242TBX22c.480G>T (p.Gln160His)
c.*92G>T (n.*92G>T)
n.359G>T
c.120G>T (p.Gln40His)
c.483G>T (p.Gln161His)
Xg.80025625T>ACA413740243TBX22c.481T>A (p.Trp161Arg)
c.*93T>A (n.*93T>A)
n.360T>A
c.121T>A (p.Trp41Arg)
c.484T>A (p.Trp162Arg)
Xg.80025625T>CCA413740244TBX22c.481T>C (p.Trp161Arg)
c.*93T>C (n.*93T>C)
n.360T>C
c.121T>C (p.Trp41Arg)
c.484T>C (p.Trp162Arg)
Xg.80025625T>GCA413740245TBX22c.481T>G (p.Trp161Gly)
c.*93T>G (n.*93T>G)
n.360T>G
c.121T>G (p.Trp41Gly)
c.484T>G (p.Trp162Gly)
Xg.80025626G>ACA413740248TBX22c.482G>A (p.Trp161Ter)
c.*94G>A (n.*94G>A)
n.361G>A
c.122G>A (p.Trp41Ter)
c.485G>A (p.Trp162Ter)
Xg.80025626G>CCA413740246TBX22c.482G>C (p.Trp161Ser)
c.*94G>C (n.*94G>C)
n.361G>C
c.122G>C (p.Trp41Ser)
c.485G>C (p.Trp162Ser)
Xg.80025626G>TCA413740247TBX22c.482G>T (p.Trp161Leu)
c.*94G>T (n.*94G>T)
n.361G>T
c.122G>T (p.Trp41Leu)
c.485G>T (p.Trp162Leu)
Xg.80025627G>ACA413740249TBX22c.483G>A (p.Trp161Ter)
c.*95G>A (n.*95G>A)
n.362G>A
c.123G>A (p.Trp41Ter)
c.486G>A (p.Trp162Ter)
Xg.80025627G>CCA413740250TBX22c.483G>C (p.Trp161Cys)
c.*95G>C (n.*95G>C)
n.362G>C
c.123G>C (p.Trp41Cys)
c.486G>C (p.Trp162Cys)
Xg.80025627G>TCA413740251TBX22c.483G>T (p.Trp161Cys)
c.*95G>T (n.*95G>T)
n.362G>T
c.123G>T (p.Trp41Cys)
c.486G>T (p.Trp162Cys)
 gnomAD v4
Xg.80025628A>CCA413740252TBX22c.484A>C (p.Met162Leu)
c.*96A>C (n.*96A>C)
n.363A>C
c.124A>C (p.Met42Leu)
c.487A>C (p.Met163Leu)
Xg.80025628A>GCA413740253TBX22c.484A>G (p.Met162Val)
c.*96A>G (n.*96A>G)
n.363A>G
c.124A>G (p.Met42Val)
c.487A>G (p.Met163Val)
Xg.80025628A>TCA413740254TBX22c.484A>T (p.Met162Leu)
c.*96A>T (n.*96A>T)
n.363A>T
c.124A>T (p.Met42Leu)
c.487A>T (p.Met163Leu)
Xg.80025629T>ACA413740256TBX22c.485T>A (p.Met162Lys)
c.*97T>A (n.*97T>A)
n.364T>A
c.125T>A (p.Met42Lys)
c.488T>A (p.Met163Lys)
Xg.80025629T>CCA413740257TBX22c.485T>C (p.Met162Thr)
c.*97T>C (n.*97T>C)
n.364T>C
c.125T>C (p.Met42Thr)
c.488T>C (p.Met163Thr)
Xg.80025629T>GCA413740255TBX22c.485T>G (p.Met162Arg)
c.*97T>G (n.*97T>G)
n.364T>G
c.125T>G (p.Met42Arg)
c.488T>G (p.Met163Arg)
Xg.80025630G>ACA413740260TBX22c.486G>A (p.Met162Ile)
c.*98G>A (n.*98G>A)
n.365G>A
c.126G>A (p.Met42Ile)
c.489G>A (p.Met163Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.80025630G>CCA413740258TBX22c.486G>C (p.Met162Ile)
c.*98G>C (n.*98G>C)
n.365G>C
c.126G>C (p.Met42Ile)
c.489G>C (p.Met163Ile)
Xg.80025630G=CA2439980338TBX22c.486G= (p.Met162=)
c.*98G= (n.*98G=)
n.365G=
c.126G= (p.Met42=)
c.489G= (p.Met163=)
Xg.80025630G>TCA413740259TBX22c.486G>T (p.Met162Ile)
c.*98G>T (n.*98G>T)
n.365G>T
c.126G>T (p.Met42Ile)
c.489G>T (p.Met163Ile)
 gnomAD v4
Xg.80025631G>ACA413740261TBX22c.487G>A (p.Val163Ile)
c.*99G>A (n.*99G>A)
n.366G>A
c.127G>A (p.Val43Ile)
c.490G>A (p.Val164Ile)
Xg.80025631G>CCA413740262TBX22c.487G>C (p.Val163Leu)
c.*99G>C (n.*99G>C)
n.366G>C
c.127G>C (p.Val43Leu)
c.490G>C (p.Val164Leu)
Xg.80025631G>TCA413740263TBX22c.487G>T (p.Val163Leu)
c.*99G>T (n.*99G>T)
n.366G>T
c.127G>T (p.Val43Leu)
c.490G>T (p.Val164Leu)
 gnomAD v4
Xg.80025632delCA2579651928TBX22c.488del (p.Val163GlufsTer?)
c.*100del (n.*100del)
n.367del
c.128del (p.Val43GlufsTer?)
c.491del (p.Val164GlufsTer?)
Xg.80025632T>ACA413740265TBX22c.488T>A (p.Val163Glu)
c.*100T>A (n.*100T>A)
n.367T>A
c.128T>A (p.Val43Glu)
c.491T>A (p.Val164Glu)
Xg.80025632T>CCA10461247TBX22c.488T>C (p.Val163Ala)
c.*100T>C (n.*100T>C)
n.367T>C
c.128T>C (p.Val43Ala)
c.491T>C (p.Val164Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80025632T>GCA413740264TBX22c.488T>G (p.Val163Gly)
c.*100T>G (n.*100T>G)
n.367T>G
c.128T>G (p.Val43Gly)
c.491T>G (p.Val164Gly)
Xg.80025632T=CA2439980339TBX22c.488T= (p.Val163=)
c.*100T= (n.*100T=)
n.367T=
c.128T= (p.Val43=)
c.491T= (p.Val164=)
Xg.80025633A>CCA517402901TBX22c.489A>C (p.Val163=)
c.*101A>C (n.*101A>C)
n.368A>C
c.129A>C (p.Val43=)
c.492A>C (p.Val164=)
Xg.80025633A>GCA517402902TBX22c.489A>G (p.Val163=)
c.*101A>G (n.*101A>G)
n.368A>G
c.129A>G (p.Val43=)
c.492A>G (p.Val164=)
Xg.80025633A>TCA517402903TBX22c.489A>T (p.Val163=)
c.*101A>T (n.*101A>T)
n.368A>T
c.129A>T (p.Val43=)
c.492A>T (p.Val164=)
Xg.80025634G>ACA413740266TBX22c.490G>A (p.Ala164Thr)
c.*102G>A (n.*102G>A)
n.369G>A
c.130G>A (p.Ala44Thr)
c.493G>A (p.Ala165Thr)
Xg.80025634G>CCA413740267TBX22c.490G>C (p.Ala164Pro)
c.*102G>C (n.*102G>C)
n.369G>C
c.130G>C (p.Ala44Pro)
c.493G>C (p.Ala165Pro)
Xg.80025634G>TCA413740268TBX22c.490G>T (p.Ala164Ser)
c.*102G>T (n.*102G>T)
n.369G>T
c.130G>T (p.Ala44Ser)
c.493G>T (p.Ala165Ser)
Xg.80025635C>ACA413740269TBX22c.491C>A (p.Ala164Asp)
c.*103C>A (n.*103C>A)
n.370C>A
c.131C>A (p.Ala44Asp)
c.494C>A (p.Ala165Asp)
Xg.80025635C>GCA413740270TBX22c.491C>G (p.Ala164Gly)
c.*103C>G (n.*103C>G)
n.370C>G
c.131C>G (p.Ala44Gly)
c.494C>G (p.Ala165Gly)
Xg.80025635C>TCA413740271TBX22c.491C>T (p.Ala164Val)
c.*103C>T (n.*103C>T)
n.370C>T
c.131C>T (p.Ala44Val)
c.494C>T (p.Ala165Val)
Xg.80025636T>ACA517402904TBX22c.492T>A (p.Ala164=)
c.*104T>A (n.*104T>A)
n.371T>A
c.132T>A (p.Ala44=)
c.495T>A (p.Ala165=)
Xg.80025636T>CCA517402905TBX22c.492T>C (p.Ala164=)
c.*104T>C (n.*104T>C)
n.371T>C
c.132T>C (p.Ala44=)
c.495T>C (p.Ala165=)
Xg.80025636T>GCA517402906TBX22c.492T>G (p.Ala164=)
c.*104T>G (n.*104T>G)
n.371T>G
c.132T>G (p.Ala44=)
c.495T>G (p.Ala165=)
Xg.80025636dupCA2738826488TBX22c.492dup (p.Gly165TrpfsTer11)
c.*104dup (n.*104dup)
n.371dup
c.132dup (p.Gly45TrpfsTer11)
c.495dup (p.Gly166TrpfsTer11)
 dbSNP
Xg.80025637G>ACA413740272TBX22c.493G>A (p.Gly165Arg)
c.*105G>A (n.*105G>A)
n.372G>A
c.133G>A (p.Gly45Arg)
c.496G>A (p.Gly166Arg)
Xg.80025637G>CCA413740274TBX22c.493G>C (p.Gly165Arg)
c.*105G>C (n.*105G>C)
n.372G>C
c.133G>C (p.Gly45Arg)
c.496G>C (p.Gly166Arg)
Xg.80025637G>TCA413740273TBX22c.493G>T (p.Gly165Trp)
c.*105G>T (n.*105G>T)
n.372G>T
c.133G>T (p.Gly45Trp)
c.496G>T (p.Gly166Trp)
Xg.80025638G>ACA413740275TBX22c.494G>A (p.Gly165Glu)
c.*106G>A (n.*106G>A)
n.373G>A
c.134G>A (p.Gly45Glu)
c.497G>A (p.Gly166Glu)
 ClinVar
Xg.80025638G>CCA413740276TBX22c.494G>C (p.Gly165Ala)
c.*106G>C (n.*106G>C)
n.373G>C
c.134G>C (p.Gly45Ala)
c.497G>C (p.Gly166Ala)
Xg.80025638G>TCA413740277TBX22c.494G>T (p.Gly165Val)
c.*106G>T (n.*106G>T)
n.373G>T
c.134G>T (p.Gly45Val)
c.497G>T (p.Gly166Val)
Xg.80025639G>ACA517402907TBX22c.495G>A (p.Gly165=)
c.*107G>A (n.*107G>A)
n.374G>A
c.135G>A (p.Gly45=)
c.498G>A (p.Gly166=)
 dbSNP gnomAD v3 gnomAD v4
Xg.80025639G>CCA517402908TBX22c.495G>C (p.Gly165=)
c.*107G>C (n.*107G>C)
n.374G>C
c.135G>C (p.Gly45=)
c.498G>C (p.Gly166=)
Xg.80025639G=CA2439980340TBX22c.495G= (p.Gly165=)
c.*107G= (n.*107G=)
n.374G=
c.135G= (p.Gly45=)
c.498G= (p.Gly166=)
Xg.80025639G>TCA517402909TBX22c.495G>T (p.Gly165=)
c.*107G>T (n.*107G>T)
n.374G>T
c.135G>T (p.Gly45=)
c.498G>T (p.Gly166=)
Xg.80025640A>CCA413740278TBX22c.496A>C (p.Asn166His)
c.*108A>C (n.*108A>C)
n.375A>C
c.136A>C (p.Asn46His)
c.499A>C (p.Asn167His)
Xg.80025640A>GCA413740279TBX22c.496A>G (p.Asn166Asp)
c.*108A>G (n.*108A>G)
n.375A>G
c.136A>G (p.Asn46Asp)
c.499A>G (p.Asn167Asp)
Xg.80025640A>TCA413740280TBX22c.496A>T (p.Asn166Tyr)
c.*108A>T (n.*108A>T)
n.375A>T
c.136A>T (p.Asn46Tyr)
c.499A>T (p.Asn167Tyr)
Xg.80025641A>CCA413740281TBX22c.497A>C (p.Asn166Thr)
c.*109A>C (n.*109A>C)
n.376A>C
c.137A>C (p.Asn46Thr)
c.500A>C (p.Asn167Thr)
Xg.80025641A>GCA413740282TBX22c.497A>G (p.Asn166Ser)
c.*109A>G (n.*109A>G)
n.376A>G
c.137A>G (p.Asn46Ser)
c.500A>G (p.Asn167Ser)
Xg.80025641A>TCA413740283TBX22c.497A>T (p.Asn166Ile)
c.*109A>T (n.*109A>T)
n.376A>T
c.137A>T (p.Asn46Ile)
c.500A>T (p.Asn167Ile)
Xg.80025642T>ACA413740284TBX22c.498T>A (p.Asn166Lys)
c.*110T>A (n.*110T>A)
n.377T>A
c.138T>A (p.Asn46Lys)
c.501T>A (p.Asn167Lys)
Xg.80025642T>CCA517402910TBX22c.498T>C (p.Asn166=)
c.*110T>C (n.*110T>C)
n.377T>C
c.138T>C (p.Asn46=)
c.501T>C (p.Asn167=)
Xg.80025642T>GCA413740285TBX22c.498T>G (p.Asn166Lys)
c.*110T>G (n.*110T>G)
n.377T>G
c.138T>G (p.Asn46Lys)
c.501T>G (p.Asn167Lys)
Xg.80025643A>CCA413740288TBX22c.499A>C (p.Thr167Pro)
c.*111A>C (n.*111A>C)
n.378A>C
c.139A>C (p.Thr47Pro)
c.502A>C (p.Thr168Pro)
Xg.80025643A>GCA413740287TBX22c.499A>G (p.Thr167Ala)
c.*111A>G (n.*111A>G)
n.378A>G
c.139A>G (p.Thr47Ala)
c.502A>G (p.Thr168Ala)
Xg.80025643A>TCA413740286TBX22c.499A>T (p.Thr167Ser)
c.*111A>T (n.*111A>T)
n.378A>T
c.139A>T (p.Thr47Ser)
c.502A>T (p.Thr168Ser)
Xg.80025644C>ACA413740291TBX22c.500C>A (p.Thr167Lys)
c.*112C>A (n.*112C>A)
n.379C>A
c.140C>A (p.Thr47Lys)
c.503C>A (p.Thr168Lys)
Xg.80025644C=CA2439980341TBX22c.500C= (p.Thr167=)
c.*112C= (n.*112C=)
n.379C=
c.140C= (p.Thr47=)
c.503C= (p.Thr168=)
Xg.80025644C>GCA413740289TBX22c.500C>G (p.Thr167Arg)
c.*112C>G (n.*112C>G)
n.379C>G
c.140C>G (p.Thr47Arg)
c.503C>G (p.Thr168Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.80025644C>TCA413740290TBX22c.500C>T (p.Thr167Ile)
c.*112C>T (n.*112C>T)
n.379C>T
c.140C>T (p.Thr47Ile)
c.503C>T (p.Thr168Ile)
Xg.80025645A>CCA517402911TBX22c.501A>C (p.Thr167=)
c.*113A>C (n.*113A>C)
n.380A>C
c.141A>C (p.Thr47=)
c.504A>C (p.Thr168=)
Xg.80025645A>GCA517402912TBX22c.501A>G (p.Thr167=)
c.*113A>G (n.*113A>G)
n.380A>G
c.141A>G (p.Thr47=)
c.504A>G (p.Thr168=)
Xg.80025645A>TCA517402913TBX22c.501A>T (p.Thr167=)
c.*113A>T (n.*113A>T)
n.380A>T
c.141A>T (p.Thr47=)
c.504A>T (p.Thr168=)
 gnomAD v4
Xg.80025646G>ACA413740292TBX22c.502G>A (p.Asp168Asn)
c.*114G>A (n.*114G>A)
n.381G>A
c.142G>A (p.Asp48Asn)
c.505G>A (p.Asp169Asn)
Xg.80025646G>CCA413740293TBX22c.502G>C (p.Asp168His)
c.*114G>C (n.*114G>C)
n.381G>C
c.142G>C (p.Asp48His)
c.505G>C (p.Asp169His)
Xg.80025646G>TCA413740294TBX22c.502G>T (p.Asp168Tyr)
c.*114G>T (n.*114G>T)
n.381G>T
c.142G>T (p.Asp48Tyr)
c.505G>T (p.Asp169Tyr)
Xg.80025647A=CA2439980342TBX22c.503A= (p.Asp168=)
c.*115A= (n.*115A=)
n.382A=
c.143A= (p.Asp48=)
c.506A= (p.Asp169=)
Xg.80025647A>CCA413740295TBX22c.503A>C (p.Asp168Ala)
c.*115A>C (n.*115A>C)
n.382A>C
c.143A>C (p.Asp48Ala)
c.506A>C (p.Asp169Ala)
 dbSNP
Xg.80025647A>GCA413740296TBX22c.503A>G (p.Asp168Gly)
c.*115A>G (n.*115A>G)
n.382A>G
c.143A>G (p.Asp48Gly)
c.506A>G (p.Asp169Gly)
Xg.80025647A>TCA413740297TBX22c.503A>T (p.Asp168Val)
c.*115A>T (n.*115A>T)
n.382A>T
c.143A>T (p.Asp48Val)
c.506A>T (p.Asp169Val)
Xg.80025648C>ACA413740298TBX22c.504C>A (p.Asp168Glu)
c.*116C>A (n.*116C>A)
n.383C>A
c.144C>A (p.Asp48Glu)
c.507C>A (p.Asp169Glu)
 gnomAD v4
Xg.80025648C>GCA413740299TBX22c.504C>G (p.Asp168Glu)
c.*116C>G (n.*116C>G)
n.383C>G
c.144C>G (p.Asp48Glu)
c.507C>G (p.Asp169Glu)
 gnomAD v4
Xg.80025648C>TCA517402915TBX22c.504C>T (p.Asp168=)
c.*116C>T (n.*116C>T)
n.383C>T
c.144C>T (p.Asp48=)
c.507C>T (p.Asp169=)
Xg.80025649C>ACA413740300TBX22c.505C>A (p.His169Asn)
c.*117C>A (n.*117C>A)
n.384C>A
c.145C>A (p.His49Asn)
c.508C>A (p.His170Asn)
Xg.80025649C>GCA413740301TBX22c.505C>G (p.His169Asp)
c.*117C>G (n.*117C>G)
n.384C>G
c.145C>G (p.His49Asp)
c.508C>G (p.His170Asp)
Xg.80025649C>TCA413740302TBX22c.505C>T (p.His169Tyr)
c.*117C>T (n.*117C>T)
n.384C>T
c.145C>T (p.His49Tyr)
c.508C>T (p.His170Tyr)
Xg.80025650A>CCA413740305TBX22c.506A>C (p.His169Pro)
c.*118A>C (n.*118A>C)
n.385A>C
c.146A>C (p.His49Pro)
c.509A>C (p.His170Pro)
Xg.80025650A>GCA413740303TBX22c.506A>G (p.His169Arg)
c.*118A>G (n.*118A>G)
n.385A>G
c.146A>G (p.His49Arg)
c.509A>G (p.His170Arg)
Xg.80025650A>TCA413740304TBX22c.506A>T (p.His169Leu)
c.*118A>T (n.*118A>T)
n.385A>T
c.146A>T (p.His49Leu)
c.509A>T (p.His170Leu)
Xg.80025651T>ACA413740306TBX22c.507T>A (p.His169Gln)
c.*119T>A (n.*119T>A)
n.386T>A
c.147T>A (p.His49Gln)
c.510T>A (p.His170Gln)
 dbSNP gnomAD v2 gnomAD v4
Xg.80025651T>CCA517402916TBX22c.507T>C (p.His169=)
c.*119T>C (n.*119T>C)
n.386T>C
c.147T>C (p.His49=)
c.510T>C (p.His170=)
Xg.80025651T>GCA413740307TBX22c.507T>G (p.His169Gln)
c.*119T>G (n.*119T>G)
n.386T>G
c.147T>G (p.His49Gln)
c.510T>G (p.His170Gln)
Xg.80025651T=CA2439980343TBX22c.507T= (p.His169=)
c.*119T= (n.*119T=)
n.386T=
c.147T= (p.His49=)
c.510T= (p.His170=)
Xg.80025652T>ACA413740308TBX22c.508T>A (p.Leu170Met)
c.*120T>A (n.*120T>A)
n.387T>A
c.148T>A (p.Leu50Met)
c.511T>A (p.Leu171Met)
Xg.80025652T>CCA10461248TBX22c.508T>C (p.Leu170=)
c.*120T>C (n.*120T>C)
n.387T>C
c.148T>C (p.Leu50=)
c.511T>C (p.Leu171=)
 dbSNP ExAC gnomAD v4
Xg.80025652T>GCA413740309TBX22c.508T>G (p.Leu170Val)
c.*120T>G (n.*120T>G)
n.387T>G
c.148T>G (p.Leu50Val)
c.511T>G (p.Leu171Val)
Xg.80025652T=CA2439980344TBX22c.508T= (p.Leu170=)
c.*120T= (n.*120T=)
n.387T=
c.148T= (p.Leu50=)
c.511T= (p.Leu171=)
Xg.80025653T>ACA413740310TBX22c.509T>A (p.Leu170Ter)
c.*121T>A (n.*121T>A)
n.388T>A
c.149T>A (p.Leu50Ter)
c.512T>A (p.Leu171Ter)
Xg.80025653T>CCA413740311TBX22c.509T>C (p.Leu170Ser)
c.*121T>C (n.*121T>C)
n.388T>C
c.149T>C (p.Leu50Ser)
c.512T>C (p.Leu171Ser)
Xg.80025653T>GCA413740312TBX22c.509T>G (p.Leu170Trp)
c.*121T>G (n.*121T>G)
n.388T>G
c.149T>G (p.Leu50Trp)
c.512T>G (p.Leu171Trp)
Xg.80025654G>ACA517402917TBX22c.510G>A (p.Leu170=)
c.*122G>A (n.*122G>A)
n.389G>A
c.150G>A (p.Leu50=)
c.513G>A (p.Leu171=)
 dbSNP gnomAD v3 gnomAD v4
Xg.80025654G>CCA413740313TBX22c.510G>C (p.Leu170Phe)
c.*122G>C (n.*122G>C)
n.389G>C
c.150G>C (p.Leu50Phe)
c.513G>C (p.Leu171Phe)
 dbSNP
Xg.80025654G=CA2439980345TBX22c.510G= (p.Leu170=)
c.*122G= (n.*122G=)
n.389G=
c.150G= (p.Leu50=)
c.513G= (p.Leu171=)
Xg.80025654G>TCA10461249TBX22c.510G>T (p.Leu170Phe)
c.*122G>T (n.*122G>T)
n.389G>T
c.150G>T (p.Leu50Phe)
c.513G>T (p.Leu171Phe)
 dbSNP ExAC gnomAD v4
Xg.80025655T>ACA413740314TBX22c.511T>A (p.Cys171Ser)
c.*123T>A (n.*123T>A)
n.390T>A
c.151T>A (p.Cys51Ser)
c.514T>A (p.Cys172Ser)
Xg.80025655T>CCA413740315TBX22c.511T>C (p.Cys171Arg)
c.*123T>C (n.*123T>C)
n.390T>C
c.151T>C (p.Cys51Arg)
c.514T>C (p.Cys172Arg)
 dbSNP gnomAD v4
Xg.80025655T>GCA413740316TBX22c.511T>G (p.Cys171Gly)
c.*123T>G (n.*123T>G)
n.390T>G
c.151T>G (p.Cys51Gly)
c.514T>G (p.Cys172Gly)
Xg.80025655T=CA2439980346TBX22c.511T= (p.Cys171=)
c.*123T= (n.*123T=)
n.390T=
c.151T= (p.Cys51=)
c.514T= (p.Cys172=)
Xg.80025656G>ACA10461250TBX22c.512G>A (p.Cys171Tyr)
c.*124G>A (n.*124G>A)
n.391G>A
c.152G>A (p.Cys51Tyr)
c.515G>A (p.Cys172Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80025656G>CCA413740318TBX22c.512G>C (p.Cys171Ser)
c.*124G>C (n.*124G>C)
n.391G>C
c.152G>C (p.Cys51Ser)
c.515G>C (p.Cys172Ser)
Xg.80025656G=CA2439980347TBX22c.512G= (p.Cys171=)
c.*124G= (n.*124G=)
n.391G=
c.152G= (p.Cys51=)
c.515G= (p.Cys172=)
Xg.80025656G>TCA413740317TBX22c.512G>T (p.Cys171Phe)
c.*124G>T (n.*124G>T)
n.391G>T
c.152G>T (p.Cys51Phe)
c.515G>T (p.Cys172Phe)
Xg.80025657C>ACA413740319TBX22c.513C>A (p.Cys171Ter)
c.*125C>A (n.*125C>A)
n.392C>A
c.153C>A (p.Cys51Ter)
c.516C>A (p.Cys172Ter)
 gnomAD v4
Xg.80025657C=CA2439980348TBX22c.513C= (p.Cys171=)
c.*125C= (n.*125C=)
n.392C=
c.153C= (p.Cys51=)
c.516C= (p.Cys172=)
Xg.80025657C>GCA413740320TBX22c.513C>G (p.Cys171Trp)
c.*125C>G (n.*125C>G)
n.392C>G
c.153C>G (p.Cys51Trp)
c.516C>G (p.Cys172Trp)
Xg.80025657C>TCA517402918TBX22c.513C>T (p.Cys171=)
c.*125C>T (n.*125C>T)
n.392C>T
c.153C>T (p.Cys51=)
c.516C>T (p.Cys172=)
 dbSNP
Xg.80025658A=CA2439980349TBX22c.514A= (p.Ile172=)
c.*126A= (n.*126A=)
n.393A=
c.154A= (p.Ile52=)
c.517A= (p.Ile173=)
Xg.80025658A>CCA331778095TBX22c.514A>C (p.Ile172Leu)
c.*126A>C (n.*126A>C)
n.393A>C
c.154A>C (p.Ile52Leu)
c.517A>C (p.Ile173Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.80025658A>GCA413740321TBX22c.514A>G (p.Ile172Val)
c.*126A>G (n.*126A>G)
n.393A>G
c.154A>G (p.Ile52Val)
c.517A>G (p.Ile173Val)
 gnomAD v4
Xg.80025658A>TCA413740322TBX22c.514A>T (p.Ile172Phe)
c.*126A>T (n.*126A>T)
n.393A>T
c.154A>T (p.Ile52Phe)
c.517A>T (p.Ile173Phe)
Xg.80025659T>ACA413740323TBX22c.515T>A (p.Ile172Asn)
c.*127T>A (n.*127T>A)
n.394T>A
c.155T>A (p.Ile52Asn)
c.518T>A (p.Ile173Asn)
Xg.80025659T>CCA413740324TBX22c.515T>C (p.Ile172Thr)
c.*127T>C (n.*127T>C)
n.394T>C
c.155T>C (p.Ile52Thr)
c.518T>C (p.Ile173Thr)
Xg.80025659T>GCA413740325TBX22c.515T>G (p.Ile172Ser)
c.*127T>G (n.*127T>G)
n.394T>G
c.155T>G (p.Ile52Ser)
c.518T>G (p.Ile173Ser)
Xg.80025660C>ACA517402919TBX22c.516C>A (p.Ile172=)
c.*128C>A (n.*128C>A)
n.395C>A
c.156C>A (p.Ile52=)
c.519C>A (p.Ile173=)
 COSMIC
Xg.80025660C>GCA413740326TBX22c.516C>G (p.Ile172Met)
c.*128C>G (n.*128C>G)
n.395C>G
c.156C>G (p.Ile52Met)
c.519C>G (p.Ile173Met)
Xg.80025660C>TCA517402920TBX22c.516C>T (p.Ile172=)
c.*128C>T (n.*128C>T)
n.395C>T
c.156C>T (p.Ile52=)
c.519C>T (p.Ile173=)
Xg.80025660_80025661delCA2579651929TBX22c.516_517del (p.Ile173SerfsTer2)
c.*128_*129del (n.*128_*129del)
n.395_396del
c.156_157del (p.Ile53SerfsTer2)
c.519_520del (p.Ile174SerfsTer2)
Xg.80025661A>CCA413740327TBX22c.517A>C (p.Ile173Leu)
c.*129A>C (n.*129A>C)
n.396A>C
c.157A>C (p.Ile53Leu)
c.520A>C (p.Ile174Leu)
Xg.80025661A>GCA413740329TBX22c.517A>G (p.Ile173Val)
c.*129A>G (n.*129A>G)
n.396A>G
c.157A>G (p.Ile53Val)
c.520A>G (p.Ile174Val)
Xg.80025661A>TCA413740328TBX22c.517A>T (p.Ile173Phe)
c.*129A>T (n.*129A>T)
n.396A>T
c.157A>T (p.Ile53Phe)
c.520A>T (p.Ile174Phe)
Xg.80025662T>ACA413740330TBX22c.518T>A (p.Ile173Asn)
c.*130T>A (n.*130T>A)
n.397T>A
c.158T>A (p.Ile53Asn)
c.521T>A (p.Ile174Asn)
Xg.80025662T>CCA413740331TBX22c.518T>C (p.Ile173Thr)
c.*130T>C (n.*130T>C)
n.397T>C
c.158T>C (p.Ile53Thr)
c.521T>C (p.Ile174Thr)
 dbSNP
Xg.80025662T>GCA413740332TBX22c.518T>G (p.Ile173Ser)
c.*130T>G (n.*130T>G)
n.397T>G
c.158T>G (p.Ile53Ser)
c.521T>G (p.Ile174Ser)
Xg.80025662T=CA2439980350TBX22c.518T= (p.Ile173=)
c.*130T= (n.*130T=)
n.397T=
c.158T= (p.Ile53=)
c.521T= (p.Ile174=)
Xg.80025663T>ACA517402921TBX22c.519T>A (p.Ile173=)
c.*131T>A (n.*131T>A)
n.398T>A
c.159T>A (p.Ile53=)
c.522T>A (p.Ile174=)
Xg.80025663T>CCA517402922TBX22c.519T>C (p.Ile173=)
c.*131T>C (n.*131T>C)
n.398T>C
c.159T>C (p.Ile53=)
c.522T>C (p.Ile174=)
Xg.80025663T>GCA413740333TBX22c.519T>G (p.Ile173Met)
c.*131T>G (n.*131T>G)
n.398T>G
c.159T>G (p.Ile53Met)
c.522T>G (p.Ile174Met)
Xg.80025664C>ACA413740334TBX22c.520C>A (p.Pro174Thr)
c.*132C>A (n.*132C>A)
n.399C>A
c.160C>A (p.Pro54Thr)
c.523C>A (p.Pro175Thr)
 COSMIC
Xg.80025664C>GCA413740336TBX22c.520C>G (p.Pro174Ala)
c.*132C>G (n.*132C>G)
n.399C>G
c.160C>G (p.Pro54Ala)
c.523C>G (p.Pro175Ala)
Xg.80025664C>TCA413740335TBX22c.520C>T (p.Pro174Ser)
c.*132C>T (n.*132C>T)
n.399C>T
c.160C>T (p.Pro54Ser)
c.523C>T (p.Pro175Ser)
Xg.80025665C>ACA413740337TBX22c.521C>A (p.Pro174His)
c.*133C>A (n.*133C>A)
n.400C>A
c.161C>A (p.Pro54His)
c.524C>A (p.Pro175His)
Xg.80025665C>GCA413740338TBX22c.521C>G (p.Pro174Arg)
c.*133C>G (n.*133C>G)
n.400C>G
c.161C>G (p.Pro54Arg)
c.524C>G (p.Pro175Arg)
Xg.80025665C>TCA413740339TBX22c.521C>T (p.Pro174Leu)
c.*133C>T (n.*133C>T)
n.400C>T
c.161C>T (p.Pro54Leu)
c.524C>T (p.Pro175Leu)
Xg.80025666T>ACA517402923TBX22c.522T>A (p.Pro174=)
c.*134T>A (n.*134T>A)
n.401T>A
c.162T>A (p.Pro54=)
c.525T>A (p.Pro175=)
Xg.80025666T>CCA517402924TBX22c.522T>C (p.Pro174=)
c.*134T>C (n.*134T>C)
n.401T>C
c.162T>C (p.Pro54=)
c.525T>C (p.Pro175=)
Xg.80025666T>GCA517402925TBX22c.522T>G (p.Pro174=)
c.*134T>G (n.*134T>G)
n.401T>G
c.162T>G (p.Pro54=)
c.525T>G (p.Pro175=)
Xg.80025667delCA2822025041TBX22c.523del (p.Arg175AspfsTer25)
c.*135del (n.*135del)
n.402del
c.163del (p.Arg55AspfsTer25)
c.526del (p.Arg176AspfsTer25)
Xg.80025667A>CCA517402926TBX22c.523A>C (p.Arg175=)
c.*135A>C (n.*135A>C)
n.402A>C
c.163A>C (p.Arg55=)
c.526A>C (p.Arg176=)
Xg.80025667A>GCA413740340TBX22c.523A>G (p.Arg175Gly)
c.*135A>G (n.*135A>G)
n.402A>G
c.163A>G (p.Arg55Gly)
c.526A>G (p.Arg176Gly)
Xg.80025667A>TCA413740341TBX22c.523A>T (p.Arg175Ter)
c.*135A>T (n.*135A>T)
n.402A>T
c.163A>T (p.Arg55Ter)
c.526A>T (p.Arg176Ter)
Xg.80025668G>ACA413740342TBX22c.524G>A (p.Arg175Lys)
c.*136G>A (n.*136G>A)
n.403G>A
c.164G>A (p.Arg55Lys)
c.527G>A (p.Arg176Lys)
Xg.80025668G>CCA413740343TBX22c.524G>C (p.Arg175Thr)
c.*136G>C (n.*136G>C)
n.403G>C
c.164G>C (p.Arg55Thr)
c.527G>C (p.Arg176Thr)
 gnomAD v4
Xg.80025668G>TCA413740344TBX22c.524G>T (p.Arg175Ile)
c.*136G>T (n.*136G>T)
n.403G>T
c.164G>T (p.Arg55Ile)
c.527G>T (p.Arg176Ile)
Xg.80025669A=CA2439980351TBX22c.525A= (p.Arg175=)
c.*137A= (n.*137A=)
n.404A=
c.165A= (p.Arg55=)
c.528A= (p.Arg176=)
Xg.80025669A>CCA413740345TBX22c.525A>C (p.Arg175Ser)
c.*137A>C (n.*137A>C)
n.404A>C
c.165A>C (p.Arg55Ser)
c.528A>C (p.Arg176Ser)
Xg.80025669A>GCA517402927TBX22c.525A>G (p.Arg175=)
c.*137A>G (n.*137A>G)
n.404A>G
c.165A>G (p.Arg55=)
c.528A>G (p.Arg176=)
 dbSNP
Xg.80025669A>TCA413740346TBX22c.525A>T (p.Arg175Ser)
c.*137A>T (n.*137A>T)
n.404A>T
c.165A>T (p.Arg55Ser)
c.528A>T (p.Arg176Ser)
Xg.80025670T>ACA413740348TBX22c.526T>A (p.Phe176Ile)
c.*138T>A (n.*138T>A)
n.405T>A
c.166T>A (p.Phe56Ile)
c.529T>A (p.Phe177Ile)
Xg.80025670T>CCA10461251TBX22c.526T>C (p.Phe176Leu)
c.*138T>C (n.*138T>C)
n.405T>C
c.166T>C (p.Phe56Leu)
c.529T>C (p.Phe177Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80025670T>GCA413740347TBX22c.526T>G (p.Phe176Val)
c.*138T>G (n.*138T>G)
n.405T>G
c.166T>G (p.Phe56Val)
c.529T>G (p.Phe177Val)
Xg.80025670T=CA2439980352TBX22c.526T= (p.Phe176=)
c.*138T= (n.*138T=)
n.405T=
c.166T= (p.Phe56=)
c.529T= (p.Phe177=)
Xg.80025671T>ACA413740349TBX22c.527T>A (p.Phe176Tyr)
c.*139T>A (n.*139T>A)
n.406T>A
c.167T>A (p.Phe56Tyr)
c.530T>A (p.Phe177Tyr)
Xg.80025671T>CCA413740350TBX22c.527T>C (p.Phe176Ser)
c.*139T>C (n.*139T>C)
n.406T>C
c.167T>C (p.Phe56Ser)
c.530T>C (p.Phe177Ser)
Xg.80025671T>GCA413740351TBX22c.527T>G (p.Phe176Cys)
c.*139T>G (n.*139T>G)
n.406T>G
c.167T>G (p.Phe56Cys)
c.530T>G (p.Phe177Cys)
 gnomAD v4
Xg.80025672C>ACA413740352TBX22c.528C>A (p.Phe176Leu)
c.*140C>A (n.*140C>A)
n.407C>A
c.168C>A (p.Phe56Leu)
c.531C>A (p.Phe177Leu)
Xg.80025672C=CA2439980353TBX22c.528C= (p.Phe176=)
c.*140C= (n.*140C=)
n.407C=
c.168C= (p.Phe56=)
c.531C= (p.Phe177=)
Xg.80025672C>GCA413740353TBX22c.528C>G (p.Phe176Leu)
c.*140C>G (n.*140C>G)
n.407C>G
c.168C>G (p.Phe56Leu)
c.531C>G (p.Phe177Leu)
Xg.80025672C>TCA517402930TBX22c.528C>T (p.Phe176=)
c.*140C>T (n.*140C>T)
n.407C>T
c.168C>T (p.Phe56=)
c.531C>T (p.Phe177=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.80025673T>ACA413740354TBX22c.529T>A (p.Tyr177Asn)
c.*141T>A (n.*141T>A)
n.408T>A
c.169T>A (p.Tyr57Asn)
c.532T>A (p.Tyr178Asn)
Xg.80025673T>CCA413740355TBX22c.529T>C (p.Tyr177His)
c.*141T>C (n.*141T>C)
n.408T>C
c.169T>C (p.Tyr57His)
c.532T>C (p.Tyr178His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.80025673T>GCA413740356TBX22c.529T>G (p.Tyr177Asp)
c.*141T>G (n.*141T>G)
n.408T>G
c.169T>G (p.Tyr57Asp)
c.532T>G (p.Tyr178Asp)
Xg.80025673T=CA2439980354TBX22c.529T= (p.Tyr177=)
c.*141T= (n.*141T=)
n.408T=
c.169T= (p.Tyr57=)
c.532T= (p.Tyr178=)
Xg.80025674A>CCA413740357TBX22c.530A>C (p.Tyr177Ser)
c.*142A>C (n.*142A>C)
n.409A>C
c.170A>C (p.Tyr57Ser)
c.533A>C (p.Tyr178Ser)
Xg.80025674A>GCA413740358TBX22c.530A>G (p.Tyr177Cys)
c.*142A>G (n.*142A>G)
n.409A>G
c.170A>G (p.Tyr57Cys)
c.533A>G (p.Tyr178Cys)
Xg.80025674A>TCA413740359TBX22c.530A>T (p.Tyr177Phe)
c.*142A>T (n.*142A>T)
n.409A>T
c.170A>T (p.Tyr57Phe)
c.533A>T (p.Tyr178Phe)
Xg.80025675T>ACA413740360TBX22c.531T>A (p.Tyr177Ter)
c.*143T>A (n.*143T>A)
n.410T>A
c.171T>A (p.Tyr57Ter)
c.534T>A (p.Tyr178Ter)
Xg.80025675T>CCA517402933TBX22c.531T>C (p.Tyr177=)
c.*143T>C (n.*143T>C)
n.410T>C
c.171T>C (p.Tyr57=)
c.534T>C (p.Tyr178=)
 dbSNP gnomAD v4
Xg.80025675T>GCA413740361TBX22c.531T>G (p.Tyr177Ter)
c.*143T>G (n.*143T>G)
n.410T>G
c.171T>G (p.Tyr57Ter)
c.534T>G (p.Tyr178Ter)
Xg.80025675T=CA2439980355TBX22c.531T= (p.Tyr177=)
c.*143T= (n.*143T=)
n.410T=
c.171T= (p.Tyr57=)
c.534T= (p.Tyr178=)
Xg.80025676G>ACA413740364TBX22c.532G>A (p.Val178Ile)
c.*144G>A (n.*144G>A)
n.411G>A
c.172G>A (p.Val58Ile)
c.535G>A (p.Val179Ile)
 dbSNP gnomAD v4
Xg.80025676G>CCA413740362TBX22c.532G>C (p.Val178Leu)
c.*144G>C (n.*144G>C)
n.411G>C
c.172G>C (p.Val58Leu)
c.535G>C (p.Val179Leu)
Xg.80025676G=CA2439980356TBX22c.532G= (p.Val178=)
c.*144G= (n.*144G=)
n.411G=
c.172G= (p.Val58=)
c.535G= (p.Val179=)
Xg.80025676G>TCA413740363TBX22c.532G>T (p.Val178Phe)
c.*144G>T (n.*144G>T)
n.411G>T
c.172G>T (p.Val58Phe)
c.535G>T (p.Val179Phe)
Xg.80025677T>ACA413740365TBX22c.533T>A (p.Val178Asp)
c.*145T>A (n.*145T>A)
n.412T>A
c.173T>A (p.Val58Asp)
c.536T>A (p.Val179Asp)
 gnomAD v4
Xg.80025677T>CCA413740366TBX22c.533T>C (p.Val178Ala)
c.*145T>C (n.*145T>C)
n.412T>C
c.173T>C (p.Val58Ala)
c.536T>C (p.Val179Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.80025677T>GCA413740367TBX22c.533T>G (p.Val178Gly)
c.*145T>G (n.*145T>G)
n.412T>G
c.173T>G (p.Val58Gly)
c.536T>G (p.Val179Gly)
Xg.80025677T=CA2439980357TBX22c.533T= (p.Val178=)
c.*145T= (n.*145T=)
n.412T=
c.173T= (p.Val58=)
c.536T= (p.Val179=)
Xg.80025678T>ACA517402935TBX22c.534T>A (p.Val178=)
c.*146T>A (n.*146T>A)
n.413T>A
c.174T>A (p.Val58=)
c.537T>A (p.Val179=)
Xg.80025678T>CCA517402936TBX22c.534T>C (p.Val178=)
c.*146T>C (n.*146T>C)
n.413T>C
c.174T>C (p.Val58=)
c.537T>C (p.Val179=)
Xg.80025678T>GCA517402937TBX22c.534T>G (p.Val178=)
c.*146T>G (n.*146T>G)
n.413T>G
c.174T>G (p.Val58=)
c.537T>G (p.Val179=)
Xg.80025679C>ACA413740368TBX22c.535C>A (p.His179Asn)
c.*147C>A (n.*147C>A)
n.414C>A
c.175C>A (p.His59Asn)
c.538C>A (p.His180Asn)
Xg.80025679C>GCA413740369TBX22c.535C>G (p.His179Asp)
c.*147C>G (n.*147C>G)
n.414C>G
c.175C>G (p.His59Asp)
c.538C>G (p.His180Asp)
Xg.80025679C>TCA413740370TBX22c.535C>T (p.His179Tyr)
c.*147C>T (n.*147C>T)
n.414C>T
c.175C>T (p.His59Tyr)
c.538C>T (p.His180Tyr)
Xg.80025680A>CCA413740371TBX22c.536A>C (p.His179Pro)
c.*148A>C (n.*148A>C)
n.415A>C
c.176A>C (p.His59Pro)
c.539A>C (p.His180Pro)
Xg.80025680A>GCA413740372TBX22c.536A>G (p.His179Arg)
c.*148A>G (n.*148A>G)
n.415A>G
c.176A>G (p.His59Arg)
c.539A>G (p.His180Arg)
Xg.80025680A>TCA413740373TBX22c.536A>T (p.His179Leu)
c.*148A>T (n.*148A>T)
n.415A>T
c.176A>T (p.His59Leu)
c.539A>T (p.His180Leu)
Xg.80025681C>ACA413740374TBX22c.537C>A (p.His179Gln)
c.*149C>A (n.*149C>A)
n.416C>A
c.177C>A (p.His59Gln)
c.540C>A (p.His180Gln)
 gnomAD v4
Xg.80025681C=CA2439980358TBX22c.537C= (p.His179=)
c.*149C= (n.*149C=)
n.416C=
c.177C= (p.His59=)
c.540C= (p.His180=)
Xg.80025681C>GCA413740375TBX22c.537C>G (p.His179Gln)
c.*149C>G (n.*149C>G)
n.416C>G
c.177C>G (p.His59Gln)
c.540C>G (p.His180Gln)
Xg.80025681C>TCA10461252TBX22c.537C>T (p.His179=)
c.*149C>T (n.*149C>T)
n.416C>T
c.177C>T (p.His59=)
c.540C>T (p.His180=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80025682C>ACA413740377TBX22c.538C>A (p.Pro180Thr)
c.*150C>A (n.*150C>A)
n.417C>A
c.178C>A (p.Pro60Thr)
c.541C>A (p.Pro181Thr)
Xg.80025682C>GCA413740378TBX22c.538C>G (p.Pro180Ala)
c.*150C>G (n.*150C>G)
n.417C>G
c.178C>G (p.Pro60Ala)
c.541C>G (p.Pro181Ala)
Xg.80025682C>TCA413740376TBX22c.538C>T (p.Pro180Ser)
c.*150C>T (n.*150C>T)
n.417C>T
c.178C>T (p.Pro60Ser)
c.541C>T (p.Pro181Ser)
Xg.80025683C>ACA413740380TBX22c.539C>A (p.Pro180Gln)
c.*151C>A (n.*151C>A)
n.418C>A
c.179C>A (p.Pro60Gln)
c.542C>A (p.Pro181Gln)
 gnomAD v4
Xg.80025683C=CA2439980359TBX22c.539C= (p.Pro180=)
c.*151C= (n.*151C=)
n.418C=
c.179C= (p.Pro60=)
c.542C= (p.Pro181=)
Xg.80025683C>GCA413740379TBX22c.539C>G (p.Pro180Arg)
c.*151C>G (n.*151C>G)
n.418C>G
c.179C>G (p.Pro60Arg)
c.542C>G (p.Pro181Arg)
 gnomAD v4
Xg.80025683C>TCA10461253TBX22c.539C>T (p.Pro180Leu)
c.*151C>T (n.*151C>T)
n.418C>T
c.179C>T (p.Pro60Leu)
c.542C>T (p.Pro181Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80025684G>ACA10461254TBX22c.540G>A (p.Pro180=)
c.*152G>A (n.*152G>A)
n.419G>A
c.180G>A (p.Pro60=)
c.543G>A (p.Pro181=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80025684G>CCA517402939TBX22c.540G>C (p.Pro180=)
c.*152G>C (n.*152G>C)
n.419G>C
c.180G>C (p.Pro60=)
c.543G>C (p.Pro181=)
Xg.80025684G=CA2439980360TBX22c.540G= (p.Pro180=)
c.*152G= (n.*152G=)
n.419G=
c.180G= (p.Pro60=)
c.543G= (p.Pro181=)
Xg.80025684G>TCA517402938TBX22c.540G>T (p.Pro180=)
c.*152G>T (n.*152G>T)
n.419G>T
c.180G>T (p.Pro60=)
c.543G>T (p.Pro181=)
Xg.80025685G>ACA413740382TBX22c.541G>A (p.Asp181Asn)
c.*153G>A (n.*153G>A)
n.420G>A
c.181G>A (p.Asp61Asn)
c.544G>A (p.Asp182Asn)
Xg.80025685G>CCA413740381TBX22c.541G>C (p.Asp181His)
c.*153G>C (n.*153G>C)
n.420G>C
c.181G>C (p.Asp61His)
c.544G>C (p.Asp182His)
Xg.80025685G>TCA413740383TBX22c.541G>T (p.Asp181Tyr)
c.*153G>T (n.*153G>T)
n.420G>T
c.181G>T (p.Asp61Tyr)
c.544G>T (p.Asp182Tyr)
Xg.80025686A>CCA413740384TBX22c.542A>C (p.Asp181Ala)
c.*154A>C (n.*154A>C)
n.421A>C
c.182A>C (p.Asp61Ala)
c.545A>C (p.Asp182Ala)
 COSMIC
Xg.80025686A>GCA413740386TBX22c.542A>G (p.Asp181Gly)
c.*154A>G (n.*154A>G)
n.421A>G
c.182A>G (p.Asp61Gly)
c.545A>G (p.Asp182Gly)
Xg.80025686A>TCA413740385TBX22c.542A>T (p.Asp181Val)
c.*154A>T (n.*154A>T)
n.421A>T
c.182A>T (p.Asp61Val)
c.545A>T (p.Asp182Val)
Xg.80025687C>ACA413740387TBX22c.543C>A (p.Asp181Glu)
c.*155C>A (n.*155C>A)
n.422C>A
c.183C>A (p.Asp61Glu)
c.546C>A (p.Asp182Glu)
Xg.80025687C=CA2439980361TBX22c.543C= (p.Asp181=)
c.*155C= (n.*155C=)
n.422C=
c.183C= (p.Asp61=)
c.546C= (p.Asp182=)
Xg.80025687C>GCA413740388TBX22c.543C>G (p.Asp181Glu)
c.*155C>G (n.*155C>G)
n.422C>G
c.183C>G (p.Asp61Glu)
c.546C>G (p.Asp182Glu)
Xg.80025687C>TCA10461255TBX22c.543C>T (p.Asp181=)
c.*155C>T (n.*155C>T)
n.422C>T
c.183C>T (p.Asp61=)
c.546C>T (p.Asp182=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80025688T>ACA413740389TBX22c.544T>A (p.Ser182Thr)
c.*156T>A (n.*156T>A)
n.423T>A
c.184T>A (p.Ser62Thr)
c.547T>A (p.Ser183Thr)
Xg.80025688T>CCA413740390TBX22c.544T>C (p.Ser182Pro)
c.*156T>C (n.*156T>C)
n.423T>C
c.184T>C (p.Ser62Pro)
c.547T>C (p.Ser183Pro)
Xg.80025688T>GCA413740391TBX22c.544T>G (p.Ser182Ala)
c.*156T>G (n.*156T>G)
n.423T>G
c.184T>G (p.Ser62Ala)
c.547T>G (p.Ser183Ala)
Xg.80025689C>ACA413740392TBX22c.545C>A (p.Ser182Ter)
c.*157C>A (n.*157C>A)
n.424C>A
c.185C>A (p.Ser62Ter)
c.548C>A (p.Ser183Ter)
Xg.80025689C>GCA413740393TBX22c.545C>G (p.Ser182Ter)
c.*157C>G (n.*157C>G)
n.424C>G
c.185C>G (p.Ser62Ter)
c.548C>G (p.Ser183Ter)
Xg.80025689C>TCA413740394TBX22c.545C>T (p.Ser182Leu)
c.*157C>T (n.*157C>T)
n.424C>T
c.185C>T (p.Ser62Leu)
c.548C>T (p.Ser183Leu)
Xg.80025690A>CCA517402940TBX22c.546A>C (p.Ser182=)
c.*158A>C (n.*158A>C)
n.425A>C
c.186A>C (p.Ser62=)
c.549A>C (p.Ser183=)
 gnomAD v4
Xg.80025690A>GCA517402941TBX22c.546A>G (p.Ser182=)
c.*158A>G (n.*158A>G)
n.425A>G
c.186A>G (p.Ser62=)
c.549A>G (p.Ser183=)
Xg.80025690A>TCA517402942TBX22c.546A>T (p.Ser182=)
c.*158A>T (n.*158A>T)
n.425A>T
c.186A>T (p.Ser62=)
c.549A>T (p.Ser183=)
Xg.80025691C>ACA10461256TBX22c.547C>A (p.Pro183Thr)
c.*159C>A (n.*159C>A)
n.426C>A
c.187C>A (p.Pro63Thr)
c.550C>A (p.Pro184Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80025691C=CA2439980362TBX22c.547C= (p.Pro183=)
c.*159C= (n.*159C=)
n.426C=
c.187C= (p.Pro63=)
c.550C= (p.Pro184=)
Xg.80025691C>GCA413740395TBX22c.547C>G (p.Pro183Ala)
c.*159C>G (n.*159C>G)
n.426C>G
c.187C>G (p.Pro63Ala)
c.550C>G (p.Pro184Ala)
Xg.80025691C>TCA413740396TBX22c.547C>T (p.Pro183Ser)
c.*159C>T (n.*159C>T)
n.426C>T
c.187C>T (p.Pro63Ser)
c.550C>T (p.Pro184Ser)
Xg.80025692C>ACA413740397TBX22c.548C>A (p.Pro183His)
c.*160C>A (n.*160C>A)
n.427C>A
c.188C>A (p.Pro63His)
c.551C>A (p.Pro184His)
Xg.80025692C>GCA413740399TBX22c.548C>G (p.Pro183Arg)
c.*160C>G (n.*160C>G)
n.427C>G
c.188C>G (p.Pro63Arg)
c.551C>G (p.Pro184Arg)
Xg.80025692C>TCA413740398TBX22c.548C>T (p.Pro183Leu)
c.*160C>T (n.*160C>T)
n.427C>T
c.188C>T (p.Pro63Leu)
c.551C>T (p.Pro184Leu)
 ClinVar
Xg.80025693C>ACA517402944TBX22c.549C>A (p.Pro183=)
c.*161C>A (n.*161C>A)
n.428C>A
c.189C>A (p.Pro63=)
c.552C>A (p.Pro184=)
Xg.80025693C=CA2439980363TBX22c.549C= (p.Pro183=)
c.*161C= (n.*161C=)
n.428C=
c.189C= (p.Pro63=)
c.552C= (p.Pro184=)
Xg.80025693C>GCA10461257TBX22c.549C>G (p.Pro183=)
c.*161C>G (n.*161C>G)
n.428C>G
c.189C>G (p.Pro63=)
c.552C>G (p.Pro184=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80025693C>TCA517402943TBX22c.549C>T (p.Pro183=)
c.*161C>T (n.*161C>T)
n.428C>T
c.189C>T (p.Pro63=)
c.552C>T (p.Pro184=)
Xg.80025694T>ACA413740400TBX22c.550T>A (p.Cys184Ser)
c.*162T>A (n.*162T>A)
n.429T>A
c.190T>A (p.Cys64Ser)
c.553T>A (p.Cys185Ser)
Xg.80025694T>CCA413740401TBX22c.550T>C (p.Cys184Arg)
c.*162T>C (n.*162T>C)
n.429T>C
c.190T>C (p.Cys64Arg)
c.553T>C (p.Cys185Arg)
Xg.80025694T>GCA413740402TBX22c.550T>G (p.Cys184Gly)
c.*162T>G (n.*162T>G)
n.429T>G
c.190T>G (p.Cys64Gly)
c.553T>G (p.Cys185Gly)
Xg.80025695G>ACA413740403TBX22c.551G>A (p.Cys184Tyr)
c.*163G>A (n.*163G>A)
n.430G>A
c.191G>A (p.Cys64Tyr)
c.554G>A (p.Cys185Tyr)
Xg.80025695G>CCA413740404TBX22c.551G>C (p.Cys184Ser)
c.*163G>C (n.*163G>C)
n.430G>C
c.191G>C (p.Cys64Ser)
c.554G>C (p.Cys185Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.80025695G=CA2439980364TBX22c.551G= (p.Cys184=)
c.*163G= (n.*163G=)
n.430G=
c.191G= (p.Cys64=)
c.554G= (p.Cys185=)
Xg.80025695G>TCA413740405TBX22c.551G>T (p.Cys184Phe)
c.*163G>T (n.*163G>T)
n.430G>T
c.191G>T (p.Cys64Phe)
c.554G>T (p.Cys185Phe)
 COSMIC
Xg.80025696C>ACA413740406TBX22c.552C>A (p.Cys184Ter)
c.*164C>A (n.*164C>A)
n.431C>A
c.192C>A (p.Cys64Ter)
c.555C>A (p.Cys185Ter)
Xg.80025696C>GCA413740407TBX22c.552C>G (p.Cys184Trp)
c.*164C>G (n.*164C>G)
n.431C>G
c.192C>G (p.Cys64Trp)
c.555C>G (p.Cys185Trp)
Xg.80025696C>TCA517402945TBX22c.552C>T (p.Cys184=)
c.*164C>T (n.*164C>T)
n.431C>T
c.192C>T (p.Cys64=)
c.555C>T (p.Cys185=)
Xg.80025697T>ACA413740410TBX22c.553T>A (p.Ser185Thr)
c.*165T>A (n.*165T>A)
n.432T>A
c.193T>A (p.Ser65Thr)
c.556T>A (p.Ser186Thr)
Xg.80025697T>CCA413740409TBX22c.553T>C (p.Ser185Pro)
c.*165T>C (n.*165T>C)
n.432T>C
c.193T>C (p.Ser65Pro)
c.556T>C (p.Ser186Pro)
Xg.80025697T>GCA413740408TBX22c.553T>G (p.Ser185Ala)
c.*165T>G (n.*165T>G)
n.432T>G
c.193T>G (p.Ser65Ala)
c.556T>G (p.Ser186Ala)
Xg.80025698C>ACA413740411TBX22c.554C>A (p.Ser185Ter)
c.*166C>A (n.*166C>A)
n.433C>A
c.194C>A (p.Ser65Ter)
c.557C>A (p.Ser186Ter)
Xg.80025698C=CA2439980365TBX22c.554C= (p.Ser185=)
c.*166C= (n.*166C=)
n.433C=
c.194C= (p.Ser65=)
c.557C= (p.Ser186=)
Xg.80025698C>GCA413740412TBX22c.554C>G (p.Ser185Trp)
c.*166C>G (n.*166C>G)
n.433C>G
c.194C>G (p.Ser65Trp)
c.557C>G (p.Ser186Trp)
Xg.80025698C>TCA10461258TBX22c.554C>T (p.Ser185Leu)
c.*166C>T (n.*166C>T)
n.433C>T
c.194C>T (p.Ser65Leu)
c.557C>T (p.Ser186Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80025699G>ACA331778096TBX22c.555G>A (p.Ser185=)
c.*167G>A (n.*167G>A)
n.434G>A
c.195G>A (p.Ser65=)
c.558G>A (p.Ser186=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.80025699G>CCA517402946TBX22c.555G>C (p.Ser185=)
c.*167G>C (n.*167G>C)
n.434G>C
c.195G>C (p.Ser65=)
c.558G>C (p.Ser186=)
 gnomAD v4
Xg.80025699G=CA2439980366TBX22c.555G= (p.Ser185=)
c.*167G= (n.*167G=)
n.434G=
c.195G= (p.Ser65=)
c.558G= (p.Ser186=)
Xg.80025699G>TCA517402947TBX22c.555G>T (p.Ser185=)
c.*167G>T (n.*167G>T)
n.434G>T
c.195G>T (p.Ser65=)
c.558G>T (p.Ser186=)
 gnomAD v4

Number of alleles fetched