Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.33438847_33438945delCA2652478039SNTA1c.395_493del (p.Gly132_Leu164del)
n.628_726del
c.68_166del (p.Gly23_Leu55del)
gnomAD v4
20g.33438863T>ACA510252168SNTA1c.474A>T (p.Thr158=)
n.707A>T
c.147A>T (p.Thr49=)
20g.33438863T>CCA510252169SNTA1c.474A>G (p.Thr158=)
n.707A>G
c.147A>G (p.Thr49=)
20g.33438863T>GCA510252170SNTA1c.474A>C (p.Thr158=)
n.707A>C
c.147A>C (p.Thr49=)
gnomAD v4
20g.33438864G>ACA313275610SNTA1c.473C>T (p.Thr158Ile)
n.706C>T
c.146C>T (p.Thr49Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33438864G>CCA408633338SNTA1c.473C>G (p.Thr158Arg)
n.706C>G
c.146C>G (p.Thr49Arg)
20g.33438864G=CA2360753066SNTA1c.473C= (p.Thr158=)
n.706C=
c.146C= (p.Thr49=)
20g.33438864G>TCA408633337SNTA1c.473C>A (p.Thr158Lys)
n.706C>A
c.146C>A (p.Thr49Lys)
20g.33438865T>ACA408633339SNTA1c.472A>T (p.Thr158Ser)
n.705A>T
c.145A>T (p.Thr49Ser)
20g.33438865T>CCA408633341SNTA1c.472A>G (p.Thr158Ala)
n.705A>G
c.145A>G (p.Thr49Ala)
20g.33438865T>GCA408633340SNTA1c.472A>C (p.Thr158Pro)
n.705A>C
c.145A>C (p.Thr49Pro)
20g.33438866C>ACA408633342SNTA1c.471G>T (p.Lys157Asn)
n.704G>T
c.144G>T (p.Lys48Asn)
20g.33438866C>GCA408633343SNTA1c.471G>C (p.Lys157Asn)
n.704G>C
c.144G>C (p.Lys48Asn)
20g.33438866C>TCA510252172SNTA1c.471G>A (p.Lys157=)
n.704G>A
c.144G>A (p.Lys48=)
20g.33438867T>ACA9817223SNTA1c.470A>T (p.Lys157Met)
n.703A>T
c.143A>T (p.Lys48Met)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.33438867T>CCA408633344SNTA1c.470A>G (p.Lys157Arg)
n.703A>G
c.143A>G (p.Lys48Arg)
20g.33438867T>GCA408633345SNTA1c.470A>C (p.Lys157Thr)
n.703A>C
c.143A>C (p.Lys48Thr)
20g.33438867T=CA2360753067SNTA1c.470A= (p.Lys157=)
n.703A=
c.143A= (p.Lys48=)
20g.33438868T>ACA408633346SNTA1c.469A>T (p.Lys157Ter)
n.702A>T
c.142A>T (p.Lys48Ter)
20g.33438868T>CCA408633347SNTA1c.469A>G (p.Lys157Glu)
n.702A>G
c.142A>G (p.Lys48Glu)
dbSNP gnomAD v4
20g.33438868T>GCA408633348SNTA1c.469A>C (p.Lys157Gln)
n.702A>C
c.142A>C (p.Lys48Gln)
20g.33438868T=CA2360753068SNTA1c.469A= (p.Lys157=)
n.702A=
c.142A= (p.Lys48=)
20g.33438869C>ACA408633349SNTA1c.468G>T (p.Lys156Asn)
n.701G>T
c.141G>T (p.Lys47Asn)
20g.33438869C>GCA408633350SNTA1c.468G>C (p.Lys156Asn)
n.701G>C
c.141G>C (p.Lys47Asn)
20g.33438869C>TCA510252175SNTA1c.468G>A (p.Lys156=)
n.701G>A
c.141G>A (p.Lys47=)
20g.33438870T>ACA408633351SNTA1c.467A>T (p.Lys156Met)
n.700A>T
c.140A>T (p.Lys47Met)
20g.33438870T>CCA9817224SNTA1c.467A>G (p.Lys156Arg)
n.700A>G
c.140A>G (p.Lys47Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438870T>GCA408633352SNTA1c.467A>C (p.Lys156Thr)
n.700A>C
c.140A>C (p.Lys47Thr)
20g.33438870T=CA2360753069SNTA1c.467A= (p.Lys156=)
n.700A=
c.140A= (p.Lys47=)
20g.33438871T>ACA408633355SNTA1c.466A>T (p.Lys156Ter)
n.699A>T
c.139A>T (p.Lys47Ter)
20g.33438871T>CCA408633353SNTA1c.466A>G (p.Lys156Glu)
n.699A>G
c.139A>G (p.Lys47Glu)
20g.33438871T>GCA408633354SNTA1c.466A>C (p.Lys156Gln)
n.699A>C
c.139A>C (p.Lys47Gln)
20g.33438872G>ACA510252178SNTA1c.465C>T (p.Leu155=)
n.698C>T
c.138C>T (p.Leu46=)
20g.33438872G>CCA510252179SNTA1c.465C>G (p.Leu155=)
n.698C>G
c.138C>G (p.Leu46=)
20g.33438872G>TCA510252180SNTA1c.465C>A (p.Leu155=)
n.698C>A
c.138C>A (p.Leu46=)
20g.33438873A>CCA408633356SNTA1c.464T>G (p.Leu155Arg)
n.697T>G
c.137T>G (p.Leu46Arg)
20g.33438873A>GCA408633357SNTA1c.464T>C (p.Leu155Pro)
n.697T>C
c.137T>C (p.Leu46Pro)
20g.33438873A>TCA408633358SNTA1c.464T>A (p.Leu155His)
n.697T>A
c.137T>A (p.Leu46His)
gnomAD v4 COSMIC
20g.33438874G>ACA408633359SNTA1c.463C>T (p.Leu155Phe)
n.696C>T
c.136C>T (p.Leu46Phe)
20g.33438874G>CCA408633360SNTA1c.463C>G (p.Leu155Val)
n.696C>G
c.136C>G (p.Leu46Val)
20g.33438874G>TCA408633361SNTA1c.463C>A (p.Leu155Ile)
n.696C>A
c.136C>A (p.Leu46Ile)
20g.33438875G>ACA510252184SNTA1c.462C>T (p.Val154=)
n.695C>T
c.135C>T (p.Val45=)
20g.33438875G>CCA510252185SNTA1c.462C>G (p.Val154=)
n.695C>G
c.135C>G (p.Val45=)
20g.33438875G>TCA510252183SNTA1c.462C>A (p.Val154=)
n.695C>A
c.135C>A (p.Val45=)
20g.33438876A=CA2360753070SNTA1c.461T= (p.Val154=)
n.694T=
c.134T= (p.Val45=)
20g.33438876A>CCA408633362SNTA1c.461T>G (p.Val154Gly)
n.694T>G
c.134T>G (p.Val45Gly)
dbSNP
20g.33438876A>GCA408633363SNTA1c.461T>C (p.Val154Ala)
n.694T>C
c.134T>C (p.Val45Ala)
20g.33438876A>TCA408633364SNTA1c.461T>A (p.Val154Asp)
n.694T>A
c.134T>A (p.Val45Asp)
20g.33438877C>ACA408633365SNTA1c.460G>T (p.Val154Phe)
n.693G>T
c.133G>T (p.Val45Phe)
gnomAD v4
20g.33438877C=CA2360753071SNTA1c.460G= (p.Val154=)
n.693G=
c.133G= (p.Val45=)
20g.33438877C>GCA408633366SNTA1c.460G>C (p.Val154Leu)
n.693G>C
c.133G>C (p.Val45Leu)
20g.33438877C>TCA236846SNTA1c.460G>A (p.Val154Ile)
n.693G>A
c.133G>A (p.Val45Ile)
ClinVar dbSNP gnomAD v4
20g.33438878C>ACA408633367SNTA1c.459G>T (p.Gln153His)
n.692G>T
c.132G>T (p.Gln44His)
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.33438878C=CA2360753072SNTA1c.459G= (p.Gln153=)
n.692G=
c.132G= (p.Gln44=)
20g.33438878C>GCA408633368SNTA1c.459G>C (p.Gln153His)
n.692G>C
c.132G>C (p.Gln44His)
20g.33438878C>TCA510252187SNTA1c.459G>A (p.Gln153=)
n.692G>A
c.132G>A (p.Gln44=)
dbSNP
20g.33438879T>ACA408633369SNTA1c.458A>T (p.Gln153Leu)
n.691A>T
c.131A>T (p.Gln44Leu)
20g.33438879T>CCA408633370SNTA1c.458A>G (p.Gln153Arg)
n.691A>G
c.131A>G (p.Gln44Arg)
20g.33438879T>GCA408633371SNTA1c.458A>C (p.Gln153Pro)
n.691A>C
c.131A>C (p.Gln44Pro)
dbSNP
20g.33438879T=CA2360753073SNTA1c.458A= (p.Gln153=)
n.691A=
c.131A= (p.Gln44=)
20g.33438880G>ACA408633372SNTA1c.457C>T (p.Gln153Ter)
n.690C>T
c.130C>T (p.Gln44Ter)
20g.33438880G>CCA408633373SNTA1c.457C>G (p.Gln153Glu)
n.690C>G
c.130C>G (p.Gln44Glu)
20g.33438880G>TCA408633374SNTA1c.457C>A (p.Gln153Lys)
n.690C>A
c.130C>A (p.Gln44Lys)
20g.33438881C>ACA510252188SNTA1c.456G>T (p.Val152=)
n.689G>T
c.129G>T (p.Val43=)
20g.33438881C=CA2360753074SNTA1c.456G= (p.Val152=)
n.689G=
c.129G= (p.Val43=)
20g.33438881C>GCA510252190SNTA1c.456G>C (p.Val152=)
n.689G>C
c.129G>C (p.Val43=)
20g.33438881C>TCA510252189SNTA1c.456G>A (p.Val152=)
n.689G>A
c.129G>A (p.Val43=)
ClinVar dbSNP gnomAD v4
20g.33438882A=CA2360753075SNTA1c.455T= (p.Val152=)
n.688T=
c.128T= (p.Val43=)
20g.33438882A>CCA408633377SNTA1c.455T>G (p.Val152Gly)
n.688T>G
c.128T>G (p.Val43Gly)
dbSNP
20g.33438882A>GCA408633376SNTA1c.455T>C (p.Val152Ala)
n.688T>C
c.128T>C (p.Val43Ala)
20g.33438882A>TCA408633375SNTA1c.455T>A (p.Val152Glu)
n.688T>A
c.128T>A (p.Val43Glu)
20g.33438883C>ACA408633378SNTA1c.454G>T (p.Val152Leu)
n.687G>T
c.127G>T (p.Val43Leu)
20g.33438883C>GCA408633379SNTA1c.454G>C (p.Val152Leu)
n.687G>C
c.127G>C (p.Val43Leu)
20g.33438883C>TCA408633380SNTA1c.454G>A (p.Val152Met)
n.687G>A
c.127G>A (p.Val43Met)
ClinVar
20g.33438884C>ACA510252191SNTA1c.453G>T (p.Ala151=)
n.686G>T
c.126G>T (p.Ala42=)
20g.33438884C=CA2360753076SNTA1c.453G= (p.Ala151=)
n.686G=
c.126G= (p.Ala42=)
20g.33438884C>GCA510252192SNTA1c.453G>C (p.Ala151=)
n.686G>C
c.126G>C (p.Ala42=)
20g.33438884C>TCA313275623SNTA1c.453G>A (p.Ala151=)
n.686G>A
c.126G>A (p.Ala42=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33438885G>ACA354880SNTA1c.452C>T (p.Ala151Val)
n.685C>T
c.125C>T (p.Ala42Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438885G>CCA408633381SNTA1c.452C>G (p.Ala151Gly)
n.685C>G
c.125C>G (p.Ala42Gly)
20g.33438885G=CA2360753077SNTA1c.452C= (p.Ala151=)
n.685C=
c.125C= (p.Ala42=)
20g.33438885G>TCA408633382SNTA1c.452C>A (p.Ala151Glu)
n.685C>A
c.125C>A (p.Ala42Glu)
20g.33438886C>ACA408633383SNTA1c.451G>T (p.Ala151Ser)
n.684G>T
c.124G>T (p.Ala42Ser)
20g.33438886C>GCA408633385SNTA1c.451G>C (p.Ala151Pro)
n.684G>C
c.124G>C (p.Ala42Pro)
20g.33438886C>TCA408633384SNTA1c.451G>A (p.Ala151Thr)
n.684G>A
c.124G>A (p.Ala42Thr)
20g.33438887C>ACA408633386SNTA1c.450G>T (p.Glu150Asp)
n.683G>T
c.123G>T (p.Glu41Asp)
20g.33438887C=CA2360753078SNTA1c.450G= (p.Glu150=)
n.683G=
c.123G= (p.Glu41=)
20g.33438887C>GCA408633387SNTA1c.450G>C (p.Glu150Asp)
n.683G>C
c.123G>C (p.Glu41Asp)
20g.33438887C>TCA510252193SNTA1c.450G>A (p.Glu150=)
n.683G>A
c.123G>A (p.Glu41=)
dbSNP gnomAD v2 gnomAD v4
20g.33438888T>ACA408633388SNTA1c.449A>T (p.Glu150Val)
n.682A>T
c.122A>T (p.Glu41Val)
20g.33438888T>CCA408633389SNTA1c.449A>G (p.Glu150Gly)
n.682A>G
c.122A>G (p.Glu41Gly)
20g.33438888T>GCA408633390SNTA1c.449A>C (p.Glu150Ala)
n.682A>C
c.122A>C (p.Glu41Ala)
20g.33438889C>ACA408633391SNTA1c.448G>T (p.Glu150Ter)
n.681G>T
c.121G>T (p.Glu41Ter)
20g.33438889C>GCA408633392SNTA1c.448G>C (p.Glu150Gln)
n.681G>C
c.121G>C (p.Glu41Gln)
20g.33438889C>TCA408633393SNTA1c.448G>A (p.Glu150Lys)
n.681G>A
c.121G>A (p.Glu41Lys)
gnomAD v4
20g.33438890A=CA2360753079SNTA1c.447T= (p.Asp149=)
n.680T=
c.120T= (p.Asp40=)
20g.33438890A>CCA408633394SNTA1c.447T>G (p.Asp149Glu)
n.680T>G
c.120T>G (p.Asp40Glu)
20g.33438890A>GCA9817225SNTA1c.447T>C (p.Asp149=)
n.680T>C
c.120T>C (p.Asp40=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438890A>TCA408633395SNTA1c.447T>A (p.Asp149Glu)
n.680T>A
c.120T>A (p.Asp40Glu)
20g.33438891T>ACA408633396SNTA1c.446A>T (p.Asp149Val)
n.679A>T
c.119A>T (p.Asp40Val)
20g.33438891T>CCA408633398SNTA1c.446A>G (p.Asp149Gly)
n.679A>G
c.119A>G (p.Asp40Gly)
gnomAD v4
20g.33438891T>GCA408633397SNTA1c.446A>C (p.Asp149Ala)
n.679A>C
c.119A>C (p.Asp40Ala)
20g.33438892C>ACA408633399SNTA1c.445G>T (p.Asp149Tyr)
n.678G>T
c.118G>T (p.Asp40Tyr)
20g.33438892C>GCA408633401SNTA1c.445G>C (p.Asp149His)
n.678G>C
c.118G>C (p.Asp40His)
20g.33438892C>TCA408633400SNTA1c.445G>A (p.Asp149Asn)
n.678G>A
c.118G>A (p.Asp40Asn)
gnomAD v4
20g.33438893A>CCA408633402SNTA1c.444T>G (p.His148Gln)
n.677T>G
c.117T>G (p.His39Gln)
20g.33438893A>GCA510252194SNTA1c.444T>C (p.His148=)
n.677T>C
c.117T>C (p.His39=)
20g.33438893A>TCA408633403SNTA1c.444T>A (p.His148Gln)
n.677T>A
c.117T>A (p.His39Gln)
20g.33438894T>ACA408633404SNTA1c.443A>T (p.His148Leu)
n.676A>T
c.116A>T (p.His39Leu)
20g.33438894T>CCA408633405SNTA1c.443A>G (p.His148Arg)
n.676A>G
c.116A>G (p.His39Arg)
gnomAD v4
20g.33438894T>GCA408633406SNTA1c.443A>C (p.His148Pro)
n.676A>C
c.116A>C (p.His39Pro)
20g.33438895G>ACA408633407SNTA1c.442C>T (p.His148Tyr)
n.675C>T
c.115C>T (p.His39Tyr)
20g.33438895G>CCA408633408SNTA1c.442C>G (p.His148Asp)
n.675C>G
c.115C>G (p.His39Asp)
20g.33438895G>TCA408633409SNTA1c.442C>A (p.His148Asn)
n.675C>A
c.115C>A (p.His39Asn)
20g.33438896G>ACA510252195SNTA1c.441C>T (p.Thr147=)
n.674C>T
c.114C>T (p.Thr38=)
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.33438896G>CCA510252197SNTA1c.441C>G (p.Thr147=)
n.674C>G
c.114C>G (p.Thr38=)
20g.33438896G=CA2360753080SNTA1c.441C= (p.Thr147=)
n.674C=
c.114C= (p.Thr38=)
20g.33438896G>TCA510252196SNTA1c.441C>A (p.Thr147=)
n.674C>A
c.114C>A (p.Thr38=)
20g.33438897G>ACA9817226SNTA1c.440C>T (p.Thr147Ile)
n.673C>T
c.113C>T (p.Thr38Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438897G>CCA408633410SNTA1c.440C>G (p.Thr147Ser)
n.673C>G
c.113C>G (p.Thr38Ser)
20g.33438897G=CA2360753081SNTA1c.440C= (p.Thr147=)
n.673C=
c.113C= (p.Thr38=)
20g.33438897G>TCA235722SNTA1c.440C>A (p.Thr147Asn)
n.673C>A
c.113C>A (p.Thr38Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438897_33438898delinsGTCA2360753082SNTA1c.439_440delinsAC (p.Thr147=)
n.672_673delinsAC
c.112_113delinsAC (p.Thr38=)
20g.33438898delCA743727207SNTA1c.439del (p.Thr147ProfsTer23)
n.672del
c.112del (p.Thr38ProfsTer23)
dbSNP
20g.33438898T>ACA408633413SNTA1c.439A>T (p.Thr147Ser)
n.672A>T
c.112A>T (p.Thr38Ser)
20g.33438898T>CCA408633412SNTA1c.439A>G (p.Thr147Ala)
n.672A>G
c.112A>G (p.Thr38Ala)
20g.33438898T>GCA408633411SNTA1c.439A>C (p.Thr147Pro)
n.672A>C
c.112A>C (p.Thr38Pro)
20g.33438899A>CCA510252198SNTA1c.438T>G (p.Ala146=)
n.671T>G
c.111T>G (p.Ala37=)
20g.33438899A>GCA510252200SNTA1c.438T>C (p.Ala146=)
n.671T>C
c.111T>C (p.Ala37=)
gnomAD v4
20g.33438899A>TCA510252199SNTA1c.438T>A (p.Ala146=)
n.671T>A
c.111T>A (p.Ala37=)
20g.33438900G>ACA408633414SNTA1c.437C>T (p.Ala146Val)
n.670C>T
c.110C>T (p.Ala37Val)
gnomAD v4
20g.33438900G>CCA408633415SNTA1c.437C>G (p.Ala146Gly)
n.670C>G
c.110C>G (p.Ala37Gly)
20g.33438900G>TCA408633416SNTA1c.437C>A (p.Ala146Asp)
n.670C>A
c.110C>A (p.Ala37Asp)
20g.33438901C>ACA408633417SNTA1c.436G>T (p.Ala146Ser)
n.669G>T
c.109G>T (p.Ala37Ser)
20g.33438901C>GCA408633418SNTA1c.436G>C (p.Ala146Pro)
n.669G>C
c.109G>C (p.Ala37Pro)
20g.33438901C>TCA408633419SNTA1c.436G>A (p.Ala146Thr)
n.669G>A
c.109G>A (p.Ala37Thr)
20g.33438902A>CCA510252203SNTA1c.435T>G (p.Ser145=)
n.668T>G
c.108T>G (p.Ser36=)
20g.33438902A>GCA510252202SNTA1c.435T>C (p.Ser145=)
n.668T>C
c.108T>C (p.Ser36=)
20g.33438902A>TCA510252201SNTA1c.435T>A (p.Ser145=)
n.668T>A
c.108T>A (p.Ser36=)
20g.33438903G>ACA408633420SNTA1c.434C>T (p.Ser145Phe)
n.667C>T
c.107C>T (p.Ser36Phe)
20g.33438903G>CCA408633421SNTA1c.434C>G (p.Ser145Cys)
n.667C>G
c.107C>G (p.Ser36Cys)
20g.33438903G>TCA408633422SNTA1c.434C>A (p.Ser145Tyr)
n.667C>A
c.107C>A (p.Ser36Tyr)
20g.33438904A>CCA408633423SNTA1c.433T>G (p.Ser145Ala)
n.666T>G
c.106T>G (p.Ser36Ala)
20g.33438904A>GCA408633424SNTA1c.433T>C (p.Ser145Pro)
n.666T>C
c.106T>C (p.Ser36Pro)
20g.33438904A>TCA408633425SNTA1c.433T>A (p.Ser145Thr)
n.666T>A
c.106T>A (p.Ser36Thr)
20g.33438905G>ACA9817227SNTA1c.432C>T (p.Ser144=)
n.665C>T
c.105C>T (p.Ser35=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.33438905G>CCA510252205SNTA1c.432C>G (p.Ser144=)
n.665C>G
c.105C>G (p.Ser35=)
20g.33438905G=CA2360753083SNTA1c.432C= (p.Ser144=)
n.665C=
c.105C= (p.Ser35=)
20g.33438905G>TCA510252204SNTA1c.432C>A (p.Ser144=)
n.665C>A
c.105C>A (p.Ser35=)
20g.33438906G>ACA9817228SNTA1c.431C>T (p.Ser144Phe)
n.664C>T
c.104C>T (p.Ser35Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.33438906G>CCA408633426SNTA1c.431C>G (p.Ser144Cys)
n.664C>G
c.104C>G (p.Ser35Cys)
20g.33438906G=CA2360753084SNTA1c.431C= (p.Ser144=)
n.664C=
c.104C= (p.Ser35=)
20g.33438906G>TCA408633427SNTA1c.431C>A (p.Ser144Tyr)
n.664C>A
c.104C>A (p.Ser35Tyr)
20g.33438907A=CA2360753085SNTA1c.430T= (p.Ser144=)
n.663T=
c.103T= (p.Ser35=)
20g.33438907A>CCA9817229SNTA1c.430T>G (p.Ser144Ala)
n.663T>G
c.103T>G (p.Ser35Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438907A>GCA408633428SNTA1c.430T>C (p.Ser144Pro)
n.663T>C
c.103T>C (p.Ser35Pro)
20g.33438907A>TCA408633429SNTA1c.430T>A (p.Ser144Thr)
n.663T>A
c.103T>A (p.Ser35Thr)
20g.33438908C>ACA408633430SNTA1c.429G>T (p.Leu143Phe)
n.662G>T
c.102G>T (p.Leu34Phe)
20g.33438908C>GCA408633431SNTA1c.429G>C (p.Leu143Phe)
n.662G>C
c.102G>C (p.Leu34Phe)
20g.33438908C>TCA510252206SNTA1c.429G>A (p.Leu143=)
n.662G>A
c.102G>A (p.Leu34=)
20g.33438909A>CCA408633432SNTA1c.428T>G (p.Leu143Trp)
n.661T>G
c.101T>G (p.Leu34Trp)
20g.33438909A>GCA408633434SNTA1c.428T>C (p.Leu143Ser)
n.661T>C
c.101T>C (p.Leu34Ser)
20g.33438909A>TCA408633433SNTA1c.428T>A (p.Leu143Ter)
n.661T>A
c.101T>A (p.Leu34Ter)
20g.33438910A>CCA408633435SNTA1c.427T>G (p.Leu143Val)
n.660T>G
c.100T>G (p.Leu34Val)
20g.33438910A>GCA510252207SNTA1c.427T>C (p.Leu143=)
n.660T>C
c.100T>C (p.Leu34=)
20g.33438910A>TCA408633436SNTA1c.427T>A (p.Leu143Met)
n.660T>A
c.100T>A (p.Leu34Met)
20g.33438911G>ACA510252208SNTA1c.426C>T (p.Asp142=)
n.659C>T
c.99C>T (p.Asp33=)
20g.33438911G>CCA408633437SNTA1c.426C>G (p.Asp142Glu)
n.659C>G
c.99C>G (p.Asp33Glu)
20g.33438911G>TCA408633438SNTA1c.426C>A (p.Asp142Glu)
n.659C>A
c.99C>A (p.Asp33Glu)
20g.33438912T>ACA408633439SNTA1c.425A>T (p.Asp142Val)
n.658A>T
c.98A>T (p.Asp33Val)
20g.33438912T>CCA9817230SNTA1c.425A>G (p.Asp142Gly)
n.658A>G
c.98A>G (p.Asp33Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.33438912T>GCA408633440SNTA1c.425A>C (p.Asp142Ala)
n.658A>C
c.98A>C (p.Asp33Ala)
20g.33438912T=CA2360753086SNTA1c.425A= (p.Asp142=)
n.658A=
c.98A= (p.Asp33=)
20g.33438913C>ACA408633441SNTA1c.424G>T (p.Asp142Tyr)
n.657G>T
c.97G>T (p.Asp33Tyr)
20g.33438913C=CA2360753087SNTA1c.424G= (p.Asp142=)
n.657G=
c.97G= (p.Asp33=)
20g.33438913C>GCA408633442SNTA1c.424G>C (p.Asp142His)
n.657G>C
c.97G>C (p.Asp33His)
20g.33438913C>TCA408633443SNTA1c.424G>A (p.Asp142Asn)
n.657G>A
c.97G>A (p.Asp33Asn)
dbSNP
20g.33438914T>ACA408633444SNTA1c.423A>T (p.Glu141Asp)
n.656A>T
c.96A>T (p.Glu32Asp)
20g.33438914T>CCA510252210SNTA1c.423A>G (p.Glu141=)
n.656A>G
c.96A>G (p.Glu32=)
20g.33438914T>GCA408633445SNTA1c.423A>C (p.Glu141Asp)
n.656A>C
c.96A>C (p.Glu32Asp)
20g.33438915T>ACA408633446SNTA1c.422A>T (p.Glu141Val)
n.655A>T
c.95A>T (p.Glu32Val)
20g.33438915T>CCA408633447SNTA1c.422A>G (p.Glu141Gly)
n.655A>G
c.95A>G (p.Glu32Gly)
dbSNP
20g.33438915T>GCA408633448SNTA1c.422A>C (p.Glu141Ala)
n.655A>C
c.95A>C (p.Glu32Ala)
20g.33438915T=CA2360753088SNTA1c.422A= (p.Glu141=)
n.655A=
c.95A= (p.Glu32=)
20g.33438916C>ACA408633449SNTA1c.421G>T (p.Glu141Ter)
n.654G>T
c.94G>T (p.Glu32Ter)
20g.33438916C>GCA408633450SNTA1c.421G>C (p.Glu141Gln)
n.654G>C
c.94G>C (p.Glu32Gln)
20g.33438916C>TCA408633451SNTA1c.421G>A (p.Glu141Lys)
n.654G>A
c.94G>A (p.Glu32Lys)
20g.33438917C>ACA510252211SNTA1c.420G>T (p.Gly140=)
n.653G>T
c.93G>T (p.Gly31=)
20g.33438917C>GCA510252212SNTA1c.420G>C (p.Gly140=)
n.653G>C
c.93G>C (p.Gly31=)
COSMIC
20g.33438917C>TCA510252213SNTA1c.420G>A (p.Gly140=)
n.653G>A
c.93G>A (p.Gly31=)
20g.33438918C>ACA408633452SNTA1c.419G>T (p.Gly140Val)
n.652G>T
c.92G>T (p.Gly31Val)
20g.33438918C=CA2360753089SNTA1c.419G= (p.Gly140=)
n.652G=
c.92G= (p.Gly31=)
20g.33438918C>GCA9817231SNTA1c.419G>C (p.Gly140Ala)
n.652G>C
c.92G>C (p.Gly31Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438918C>TCA9817232SNTA1c.419G>A (p.Gly140Glu)
n.652G>A
c.92G>A (p.Gly31Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.33438919C>ACA408633455SNTA1c.418G>T (p.Gly140Trp)
n.651G>T
c.91G>T (p.Gly31Trp)
20g.33438919C=CA2360753090SNTA1c.418G= (p.Gly140=)
n.651G=
c.91G= (p.Gly31=)
20g.33438919C>GCA408633453SNTA1c.418G>C (p.Gly140Arg)
n.651G>C
c.91G>C (p.Gly31Arg)
20g.33438919C>TCA408633454SNTA1c.418G>A (p.Gly140Arg)
n.651G>A
c.91G>A (p.Gly31Arg)
dbSNP
20g.33438920A>CCA408633456SNTA1c.417T>G (p.Asn139Lys)
n.650T>G
c.90T>G (p.Asn30Lys)
20g.33438920A>GCA510252214SNTA1c.417T>C (p.Asn139=)
n.650T>C
c.90T>C (p.Asn30=)
20g.33438920A>TCA408633457SNTA1c.417T>A (p.Asn139Lys)
n.650T>A
c.90T>A (p.Asn30Lys)
20g.33438921T>ACA408633458SNTA1c.416A>T (p.Asn139Ile)
n.649A>T
c.89A>T (p.Asn30Ile)
20g.33438921T>CCA408633459SNTA1c.416A>G (p.Asn139Ser)
n.649A>G
c.89A>G (p.Asn30Ser)
gnomAD v4
20g.33438921T>GCA408633460SNTA1c.416A>C (p.Asn139Thr)
n.649A>C
c.89A>C (p.Asn30Thr)
20g.33438922T>ACA408633461SNTA1c.415A>T (p.Asn139Tyr)
n.648A>T
c.88A>T (p.Asn30Tyr)
20g.33438922T>CCA408633462SNTA1c.415A>G (p.Asn139Asp)
n.648A>G
c.88A>G (p.Asn30Asp)
20g.33438922T>GCA408633463SNTA1c.415A>C (p.Asn139His)
n.648A>C
c.88A>C (p.Asn30His)
20g.33438923C>ACA510252215SNTA1c.414G>T (p.Val138=)
n.647G>T
c.87G>T (p.Val29=)
ClinVar dbSNP gnomAD v2 gnomAD v4
20g.33438923C=CA2360753091SNTA1c.414G= (p.Val138=)
n.647G=
c.87G= (p.Val29=)
20g.33438923C>GCA510252216SNTA1c.414G>C (p.Val138=)
n.647G>C
c.87G>C (p.Val29=)
20g.33438923C>TCA510252217SNTA1c.414G>A (p.Val138=)
n.647G>A
c.87G>A (p.Val29=)
20g.33438924A>CCA408633464SNTA1c.413T>G (p.Val138Gly)
n.646T>G
c.86T>G (p.Val29Gly)
20g.33438924A>GCA408633465SNTA1c.413T>C (p.Val138Ala)
n.646T>C
c.86T>C (p.Val29Ala)
20g.33438924A>TCA408633466SNTA1c.413T>A (p.Val138Glu)
n.646T>A
c.86T>A (p.Val29Glu)
20g.33438925C>ACA408633469SNTA1c.412G>T (p.Val138Leu)
n.645G>T
c.85G>T (p.Val29Leu)
20g.33438925C>GCA408633467SNTA1c.412G>C (p.Val138Leu)
n.645G>C
c.85G>C (p.Val29Leu)
20g.33438925C>TCA408633468SNTA1c.412G>A (p.Val138Met)
n.645G>A
c.85G>A (p.Val29Met)
20g.33438926A>CCA510252218SNTA1c.411T>G (p.Ser137=)
n.644T>G
c.84T>G (p.Ser28=)
20g.33438926A>GCA510252220SNTA1c.411T>C (p.Ser137=)
n.644T>C
c.84T>C (p.Ser28=)
20g.33438926A>TCA510252219SNTA1c.411T>A (p.Ser137=)
n.644T>A
c.84T>A (p.Ser28=)
20g.33438927G>ACA408633470SNTA1c.410C>T (p.Ser137Phe)
n.643C>T
c.83C>T (p.Ser28Phe)
20g.33438927G>CCA408633471SNTA1c.410C>G (p.Ser137Cys)
n.643C>G
c.83C>G (p.Ser28Cys)
20g.33438927G>TCA408633472SNTA1c.410C>A (p.Ser137Tyr)
n.643C>A
c.83C>A (p.Ser28Tyr)
20g.33438927_33438928insGTCA2652478040SNTA1c.409_410insAC (p.Ser137TyrfsTer3)
n.642_643insAC
c.82_83insAC (p.Ser28TyrfsTer3)
gnomAD v4
20g.33438928A>CCA408633473SNTA1c.409T>G (p.Ser137Ala)
n.642T>G
c.82T>G (p.Ser28Ala)
20g.33438928A>GCA408633474SNTA1c.409T>C (p.Ser137Pro)
n.642T>C
c.82T>C (p.Ser28Pro)
20g.33438928A>TCA408633475SNTA1c.409T>A (p.Ser137Thr)
n.642T>A
c.82T>A (p.Ser28Thr)
20g.33438929C>ACA510252221SNTA1c.408G>T (p.Leu136=)
n.641G>T
c.81G>T (p.Leu27=)
20g.33438929C>GCA510252222SNTA1c.408G>C (p.Leu136=)
n.641G>C
c.81G>C (p.Leu27=)
gnomAD v4
20g.33438929C>TCA510252223SNTA1c.408G>A (p.Leu136=)
n.641G>A
c.81G>A (p.Leu27=)
gnomAD v4
20g.33438930A>CCA408633476SNTA1c.407T>G (p.Leu136Arg)
n.640T>G
c.80T>G (p.Leu27Arg)
20g.33438930A>GCA408633477SNTA1c.407T>C (p.Leu136Pro)
n.640T>C
c.80T>C (p.Leu27Pro)
20g.33438930A>TCA408633478SNTA1c.407T>A (p.Leu136Gln)
n.640T>A
c.80T>A (p.Leu27Gln)
20g.33438931G>ACA510252224SNTA1c.406C>T (p.Leu136=)
n.639C>T
c.79C>T (p.Leu27=)
20g.33438931G>CCA408633479SNTA1c.406C>G (p.Leu136Val)
n.639C>G
c.79C>G (p.Leu27Val)
20g.33438931G>TCA408633480SNTA1c.406C>A (p.Leu136Met)
n.639C>A
c.79C>A (p.Leu27Met)
20g.33438932G>ACA510252225SNTA1c.405C>T (p.Ile135=)
n.638C>T
c.78C>T (p.Ile26=)
gnomAD v4
20g.33438932G>CCA408633481SNTA1c.405C>G (p.Ile135Met)
n.638C>G
c.78C>G (p.Ile26Met)
20g.33438932G>TCA510252226SNTA1c.405C>A (p.Ile135=)
n.638C>A
c.78C>A (p.Ile26=)
gnomAD v4
20g.33438933A>CCA408633484SNTA1c.404T>G (p.Ile135Ser)
n.637T>G
c.77T>G (p.Ile26Ser)
20g.33438933A>GCA408633483SNTA1c.404T>C (p.Ile135Thr)
n.637T>C
c.77T>C (p.Ile26Thr)
20g.33438933A>TCA408633482SNTA1c.404T>A (p.Ile135Asn)
n.637T>A
c.77T>A (p.Ile26Asn)
20g.33438934T>ACA408633486SNTA1c.403A>T (p.Ile135Phe)
n.636A>T
c.76A>T (p.Ile26Phe)
20g.33438934T>CCA408633485SNTA1c.403A>G (p.Ile135Val)
n.636A>G
c.76A>G (p.Ile26Val)
20g.33438934T>GCA302339SNTA1c.403A>C (p.Ile135Leu)
n.636A>C
c.76A>C (p.Ile26Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.33438934T=CA2360753092SNTA1c.403A= (p.Ile135=)
n.636A=
c.76A= (p.Ile26=)
20g.33438935G>ACA510252229SNTA1c.402C>T (p.Ala134=)
n.635C>T
c.75C>T (p.Ala25=)
gnomAD v4
20g.33438935G>CCA510252227SNTA1c.402C>G (p.Ala134=)
n.635C>G
c.75C>G (p.Ala25=)
20g.33438935G>TCA510252228SNTA1c.402C>A (p.Ala134=)
n.635C>A
c.75C>A (p.Ala25=)
20g.33438936G>ACA408633487SNTA1c.401C>T (p.Ala134Val)
n.634C>T
c.74C>T (p.Ala25Val)
20g.33438936G>CCA408633488SNTA1c.401C>G (p.Ala134Gly)
n.634C>G
c.74C>G (p.Ala25Gly)
20g.33438936G>TCA408633489SNTA1c.401C>A (p.Ala134Asp)
n.634C>A
c.74C>A (p.Ala25Asp)
20g.33438936_33438937insAAGCA2652478041SNTA1c.401_402insTTC (p.Ala134_Ile135insSer)
n.634_635insTTC
c.74_75insTTC (p.Ala25_Ile26insSer)
gnomAD v4
20g.33438937C>ACA408633490SNTA1c.400G>T (p.Ala134Ser)
n.633G>T
c.73G>T (p.Ala25Ser)
gnomAD v4
20g.33438937C>GCA408633491SNTA1c.400G>C (p.Ala134Pro)
n.633G>C
c.73G>C (p.Ala25Pro)
20g.33438937C>TCA408633492SNTA1c.400G>A (p.Ala134Thr)
n.633G>A
c.73G>A (p.Ala25Thr)
20g.33438938A=CA2360753093SNTA1c.399T= (p.Asp133=)
n.632T=
c.72T= (p.Asp24=)
20g.33438938A>CCA408633493SNTA1c.399T>G (p.Asp133Glu)
n.632T>G
c.72T>G (p.Asp24Glu)
20g.33438938A>GCA313275662SNTA1c.399T>C (p.Asp133=)
n.632T>C
c.72T>C (p.Asp24=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33438938A>TCA408633494SNTA1c.399T>A (p.Asp133Glu)
n.632T>A
c.72T>A (p.Asp24Glu)
20g.33438939T>ACA408633495SNTA1c.398A>T (p.Asp133Val)
n.631A>T
c.71A>T (p.Asp24Val)
20g.33438939T>CCA408633496SNTA1c.398A>G (p.Asp133Gly)
n.631A>G
c.71A>G (p.Asp24Gly)
dbSNP
20g.33438939T>GCA408633497SNTA1c.398A>C (p.Asp133Ala)
n.631A>C
c.71A>C (p.Asp24Ala)
20g.33438939T=CA2360753094SNTA1c.398A= (p.Asp133=)
n.631A=
c.71A= (p.Asp24=)
20g.33438940C>ACA408633499SNTA1c.397G>T (p.Asp133Tyr)
n.630G>T
c.70G>T (p.Asp24Tyr)
20g.33438940C>GCA408633500SNTA1c.397G>C (p.Asp133His)
n.630G>C
c.70G>C (p.Asp24His)
20g.33438940C>TCA408633498SNTA1c.397G>A (p.Asp133Asn)
n.630G>A
c.70G>A (p.Asp24Asn)
gnomAD v4
20g.33438941C>ACA510252231SNTA1c.396G>T (p.Gly132=)
n.629G>T
c.69G>T (p.Gly23=)
20g.33438941C>GCA510252230SNTA1c.396G>C (p.Gly132=)
n.629G>C
c.69G>C (p.Gly23=)
20g.33438941C>TCA510252232SNTA1c.396G>A (p.Gly132=)
n.629G>A
c.69G>A (p.Gly23=)
20g.33438942C>ACA408633501SNTA1c.395G>T (p.Gly132Val)
n.628G>T
c.68G>T (p.Gly23Val)
20g.33438942C>GCA408633502SNTA1c.395G>C (p.Gly132Ala)
n.628G>C
c.68G>C (p.Gly23Ala)
20g.33438942C>TCA408633503SNTA1c.395G>A (p.Gly132Glu)
n.628G>A
c.68G>A (p.Gly23Glu)
gnomAD v4
20g.33438943C>ACA408633504SNTA1c.394G>T (p.Gly132Trp)
n.627G>T
c.67G>T (p.Gly23Trp)
20g.33438943C>GCA408633505SNTA1c.394G>C (p.Gly132Arg)
n.627G>C
c.67G>C (p.Gly23Arg)
20g.33438943C>TCA408633506SNTA1c.394G>A (p.Gly132Arg)
n.627G>A
c.67G>A (p.Gly23Arg)
20g.33438944C>ACA510252233SNTA1c.393G>T (p.Val131=)
n.626G>T
c.66G>T (p.Val22=)
20g.33438944C>GCA510252234SNTA1c.393G>C (p.Val131=)
n.626G>C
c.66G>C (p.Val22=)
20g.33438944C>TCA510252235SNTA1c.393G>A (p.Val131=)
n.626G>A
c.66G>A (p.Val22=)
20g.33438945A>CCA408633507SNTA1c.392T>G (p.Val131Gly)
n.625T>G
c.65T>G (p.Val22Gly)
20g.33438945A>GCA408633509SNTA1c.392T>C (p.Val131Ala)
n.625T>C
c.65T>C (p.Val22Ala)
20g.33438945A>TCA408633508SNTA1c.392T>A (p.Val131Glu)
n.625T>A
c.65T>A (p.Val22Glu)
20g.33438946C>ACA408633510SNTA1c.391G>T (p.Val131Leu)
n.624G>T
c.64G>T (p.Val22Leu)
gnomAD v4
20g.33438946C>GCA408633511SNTA1c.391G>C (p.Val131Leu)
n.624G>C
c.64G>C (p.Val22Leu)
20g.33438946C>TCA408633512SNTA1c.391G>A (p.Val131Met)
n.624G>A
c.64G>A (p.Val22Met)
gnomAD v4
20g.33438947A>CCA408633513SNTA1c.390T>G (p.Phe130Leu)
n.623T>G
c.63T>G (p.Phe21Leu)
20g.33438947A>GCA510252238SNTA1c.390T>C (p.Phe130=)
n.623T>C
c.63T>C (p.Phe21=)
ClinVar dbSNP gnomAD v4
20g.33438947A>TCA408633514SNTA1c.390T>A (p.Phe130Leu)
n.623T>A
c.63T>A (p.Phe21Leu)
20g.33438948A=CA2360753095SNTA1c.389T= (p.Phe130=)
n.622T=
c.62T= (p.Phe21=)
20g.33438948A>CCA313275668SNTA1c.389T>G (p.Phe130Cys)
n.622T>G
c.62T>G (p.Phe21Cys)
dbSNP gnomAD v3 gnomAD v4
20g.33438948A>GCA408633516SNTA1c.389T>C (p.Phe130Ser)
n.622T>C
c.62T>C (p.Phe21Ser)
gnomAD v4
20g.33438948A>TCA408633515SNTA1c.389T>A (p.Phe130Tyr)
n.622T>A
c.62T>A (p.Phe21Tyr)
20g.33438949A=CA2360753096SNTA1c.388T= (p.Phe130=)
n.621T=
c.61T= (p.Phe21=)
20g.33438949A>CCA408633517SNTA1c.388T>G (p.Phe130Val)
n.621T>G
c.61T>G (p.Phe21Val)
20g.33438949A>GCA302315SNTA1c.388T>C (p.Phe130Leu)
n.621T>C
c.61T>C (p.Phe21Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438949A>TCA408633518SNTA1c.388T>A (p.Phe130Ile)
n.621T>A
c.61T>A (p.Phe21Ile)
20g.33438950A>CCA510252240SNTA1c.387T>G (p.Leu129=)
n.620T>G
c.60T>G (p.Leu20=)
20g.33438950A>GCA510252242SNTA1c.387T>C (p.Leu129=)
n.620T>C
c.60T>C (p.Leu20=)
20g.33438950A>TCA510252244SNTA1c.387T>A (p.Leu129=)
n.620T>A
c.60T>A (p.Leu20=)
20g.33438951A=CA2360753097SNTA1c.386T= (p.Leu129=)
n.619T=
c.59T= (p.Leu20=)
20g.33438951A>CCA408633519SNTA1c.386T>G (p.Leu129Arg)
n.619T>G
c.59T>G (p.Leu20Arg)
20g.33438951A>GCA408633520SNTA1c.386T>C (p.Leu129Pro)
n.619T>C
c.59T>C (p.Leu20Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.33438951A>TCA408633521SNTA1c.386T>A (p.Leu129His)
n.619T>A
c.59T>A (p.Leu20His)
20g.33438952G>ACA408633522SNTA1c.385C>T (p.Leu129Phe)
n.618C>T
c.58C>T (p.Leu20Phe)
20g.33438952G>CCA408633523SNTA1c.385C>G (p.Leu129Val)
n.618C>G
c.58C>G (p.Leu20Val)
20g.33438952G>TCA408633524SNTA1c.385C>A (p.Leu129Ile)
n.618C>A
c.58C>A (p.Leu20Ile)
20g.33438953G>ACA510252245SNTA1c.384C>T (p.Ala128=)
n.617C>T
c.57C>T (p.Ala19=)
gnomAD v4
20g.33438953G>CCA510252246SNTA1c.384C>G (p.Ala128=)
n.617C>G
c.57C>G (p.Ala19=)
gnomAD v4
20g.33438953G>TCA510252248SNTA1c.384C>A (p.Ala128=)
n.617C>A
c.57C>A (p.Ala19=)
20g.33438954G>ACA408633525SNTA1c.383C>T (p.Ala128Val)
n.616C>T
c.56C>T (p.Ala19Val)
20g.33438954G>CCA408633526SNTA1c.383C>G (p.Ala128Gly)
n.616C>G
c.56C>G (p.Ala19Gly)
20g.33438954G>TCA408633527SNTA1c.383C>A (p.Ala128Asp)
n.616C>A
c.56C>A (p.Ala19Asp)
20g.33438955C>ACA408633528SNTA1c.382G>T (p.Ala128Ser)
n.615G>T
c.55G>T (p.Ala19Ser)
20g.33438955C>GCA408633529SNTA1c.382G>C (p.Ala128Pro)
n.615G>C
c.55G>C (p.Ala19Pro)
20g.33438955C>TCA408633530SNTA1c.382G>A (p.Ala128Thr)
n.615G>A
c.55G>A (p.Ala19Thr)
20g.33438956C>ACA408633532SNTA1c.381G>T (p.Glu127Asp)
n.614G>T
c.54G>T (p.Glu18Asp)
20g.33438956C>GCA408633531SNTA1c.381G>C (p.Glu127Asp)
n.614G>C
c.54G>C (p.Glu18Asp)
20g.33438956C>TCA510252250SNTA1c.381G>A (p.Glu127=)
n.614G>A
c.54G>A (p.Glu18=)
gnomAD v4
20g.33438957T>ACA408633533SNTA1c.380A>T (p.Glu127Val)
n.613A>T
c.53A>T (p.Glu18Val)
20g.33438957T>CCA408633534SNTA1c.380A>G (p.Glu127Gly)
n.613A>G
c.53A>G (p.Glu18Gly)
20g.33438957T>GCA408633535SNTA1c.380A>C (p.Glu127Ala)
n.613A>C
c.53A>C (p.Glu18Ala)
20g.33438961_33438964delCA2652478042SNTA1c.377_380del (p.Thr126ArgfsTer12)
n.610_613del
c.50_53del (p.Thr17ArgfsTer12)
gnomAD v4
20g.33438958C>ACA408633536SNTA1c.379G>T (p.Glu127Ter)
n.612G>T
c.52G>T (p.Glu18Ter)
20g.33438958C>GCA408633537SNTA1c.379G>C (p.Glu127Gln)
n.612G>C
c.52G>C (p.Glu18Gln)
20g.33438958C>TCA408633538SNTA1c.379G>A (p.Glu127Lys)
n.612G>A
c.52G>A (p.Glu18Lys)
20g.33438959T>ACA510252251SNTA1c.378A>T (p.Thr126=)
n.611A>T
c.51A>T (p.Thr17=)
20g.33438959T>CCA510252252SNTA1c.378A>G (p.Thr126=)
n.611A>G
c.51A>G (p.Thr17=)
dbSNP gnomAD v2 gnomAD v4
20g.33438959T>GCA510252254SNTA1c.378A>C (p.Thr126=)
n.611A>C
c.51A>C (p.Thr17=)
20g.33438959T=CA2360753098SNTA1c.378A= (p.Thr126=)
n.611A=
c.51A= (p.Thr17=)
20g.33438960G>ACA408633539SNTA1c.377C>T (p.Thr126Ile)
n.610C>T
c.50C>T (p.Thr17Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33438960G>CCA408633540SNTA1c.377C>G (p.Thr126Arg)
n.610C>G
c.50C>G (p.Thr17Arg)
20g.33438960G=CA2360753099SNTA1c.377C= (p.Thr126=)
n.610C=
c.50C= (p.Thr17=)
20g.33438960G>TCA408633541SNTA1c.377C>A (p.Thr126Lys)
n.610C>A
c.50C>A (p.Thr17Lys)
20g.33438961T>ACA408633542SNTA1c.376A>T (p.Thr126Ser)
n.609A>T
c.49A>T (p.Thr17Ser)
20g.33438961T>CCA408633543SNTA1c.376A>G (p.Thr126Ala)
n.609A>G
c.49A>G (p.Thr17Ala)
20g.33438961T>GCA408633544SNTA1c.376A>C (p.Thr126Pro)
n.609A>C
c.49A>C (p.Thr17Pro)
20g.33438962C>ACA408633545SNTA1c.375G>T (p.Gln125His)
n.608G>T
c.48G>T (p.Gln16His)
20g.33438962C=CA2360753100SNTA1c.375G= (p.Gln125=)
n.608G=
c.48G= (p.Gln16=)
20g.33438962C>GCA236849SNTA1c.375G>C (p.Gln125His)
n.608G>C
c.48G>C (p.Gln16His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438962C>TCA510252256SNTA1c.375G>A (p.Gln125=)
n.608G>A
c.48G>A (p.Gln16=)
COSMIC
20g.33438963T>ACA408633546SNTA1c.374A>T (p.Gln125Leu)
n.607A>T
c.47A>T (p.Gln16Leu)
20g.33438963T>CCA408633548SNTA1c.374A>G (p.Gln125Arg)
n.607A>G
c.47A>G (p.Gln16Arg)
20g.33438963T>GCA408633547SNTA1c.374A>C (p.Gln125Pro)
n.607A>C
c.47A>C (p.Gln16Pro)
dbSNP gnomAD v3 gnomAD v4
20g.33438963T=CA2360753101SNTA1c.374A= (p.Gln125=)
n.607A=
c.47A= (p.Gln16=)

Number of alleles fetched