| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.80025611A= | CA2439980333 | TBX22 | c.467A= (p.Tyr156=) c.*79A= (n.*79A=) n.346A= c.107A= (p.Tyr36=) c.470A= (p.Tyr157=) | |
| X | g.80025611A>C | CA413740209 | TBX22 | c.467A>C (p.Tyr156Ser) c.*79A>C (n.*79A>C) n.346A>C c.107A>C (p.Tyr36Ser) c.470A>C (p.Tyr157Ser) | |
| X | g.80025611A>G | CA413740210 | TBX22 | c.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 |
| X | g.80025611A>T | CA413740211 | TBX22 | c.467A>T (p.Tyr156Phe) c.*79A>T (n.*79A>T) n.346A>T c.107A>T (p.Tyr36Phe) c.470A>T (p.Tyr157Phe) | |
| X | g.80025612T>A | CA413740212 | TBX22 | c.468T>A (p.Tyr156Ter) c.*80T>A (n.*80T>A) n.347T>A c.108T>A (p.Tyr36Ter) c.471T>A (p.Tyr157Ter) | |
| X | g.80025612T>C | CA517402894 | TBX22 | c.468T>C (p.Tyr156=) c.*80T>C (n.*80T>C) n.347T>C c.108T>C (p.Tyr36=) c.471T>C (p.Tyr157=) | |
| X | g.80025612T>G | CA413740213 | TBX22 | c.468T>G (p.Tyr156Ter) c.*80T>G (n.*80T>G) n.347T>G c.108T>G (p.Tyr36Ter) c.471T>G (p.Tyr157Ter) | |
| X | g.80025613C>A | CA413740214 | TBX22 | c.469C>A (p.His157Asn) c.*81C>A (n.*81C>A) n.348C>A c.109C>A (p.His37Asn) c.472C>A (p.His158Asn) | |
| X | g.80025613C= | CA2439980334 | TBX22 | c.469C= (p.His157=) c.*81C= (n.*81C=) n.348C= c.109C= (p.His37=) c.472C= (p.His158=) | |
| X | g.80025613C>G | CA413740215 | TBX22 | c.469C>G (p.His157Asp) c.*81C>G (n.*81C>G) n.348C>G c.109C>G (p.His37Asp) c.472C>G (p.His158Asp) | |
| X | g.80025613C>T | CA10461246 | TBX22 | c.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 |
| X | g.80025614A>C | CA413740216 | TBX22 | c.470A>C (p.His157Pro) c.*82A>C (n.*82A>C) n.349A>C c.110A>C (p.His37Pro) c.473A>C (p.His158Pro) | |
| X | g.80025614A>G | CA413740217 | TBX22 | c.470A>G (p.His157Arg) c.*82A>G (n.*82A>G) n.349A>G c.110A>G (p.His37Arg) c.473A>G (p.His158Arg) | |
| X | g.80025614A>T | CA413740218 | TBX22 | c.470A>T (p.His157Leu) c.*82A>T (n.*82A>T) n.349A>T c.110A>T (p.His37Leu) c.473A>T (p.His158Leu) | |
| X | g.80025615C>A | CA413740219 | TBX22 | c.471C>A (p.His157Gln) c.*83C>A (n.*83C>A) n.350C>A c.111C>A (p.His37Gln) c.474C>A (p.His158Gln) | |
| X | g.80025615C>G | CA413740220 | TBX22 | c.471C>G (p.His157Gln) c.*83C>G (n.*83C>G) n.350C>G c.111C>G (p.His37Gln) c.474C>G (p.His158Gln) | |
| X | g.80025615C>T | CA517402895 | TBX22 | c.471C>T (p.His157=) c.*83C>T (n.*83C>T) n.350C>T c.111C>T (p.His37=) c.474C>T (p.His158=) | |
| X | g.80025616A= | CA2439980335 | TBX22 | c.472A= (p.Ser158=) c.*84A= (n.*84A=) n.351A= c.112A= (p.Ser38=) c.475A= (p.Ser159=) | |
| X | g.80025616A>C | CA413740221 | TBX22 | c.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 |
| X | g.80025616A>G | CA413740222 | TBX22 | c.472A>G (p.Ser158Gly) c.*84A>G (n.*84A>G) n.351A>G c.112A>G (p.Ser38Gly) c.475A>G (p.Ser159Gly) | COSMIC |
| X | g.80025616A>T | CA413740223 | TBX22 | c.472A>T (p.Ser158Cys) c.*84A>T (n.*84A>T) n.351A>T c.112A>T (p.Ser38Cys) c.475A>T (p.Ser159Cys) | |
| X | g.80025617G>A | CA413740225 | TBX22 | c.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 |
| X | g.80025617G>C | CA413740226 | TBX22 | c.473G>C (p.Ser158Thr) c.*85G>C (n.*85G>C) n.352G>C c.113G>C (p.Ser38Thr) c.476G>C (p.Ser159Thr) | |
| X | g.80025617G>T | CA413740224 | TBX22 | c.473G>T (p.Ser158Ile) c.*85G>T (n.*85G>T) n.352G>T c.113G>T (p.Ser38Ile) c.476G>T (p.Ser159Ile) | |
| X | g.80025618C>A | CA413740227 | TBX22 | c.474C>A (p.Ser158Arg) c.*86C>A (n.*86C>A) n.353C>A c.114C>A (p.Ser38Arg) c.477C>A (p.Ser159Arg) | |
| X | g.80025618C= | CA2439980336 | TBX22 | c.474C= (p.Ser158=) c.*86C= (n.*86C=) n.353C= c.114C= (p.Ser38=) c.477C= (p.Ser159=) | |
| X | g.80025618C>G | CA413740228 | TBX22 | c.474C>G (p.Ser158Arg) c.*86C>G (n.*86C>G) n.353C>G c.114C>G (p.Ser38Arg) c.477C>G (p.Ser159Arg) | |
| X | g.80025618C>T | CA517402896 | TBX22 | c.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 |
| X | g.80025619T>A | CA413740229 | TBX22 | c.475T>A (p.Ser159Thr) c.*87T>A (n.*87T>A) n.354T>A c.115T>A (p.Ser39Thr) c.478T>A (p.Ser160Thr) | |
| X | g.80025619T>C | CA413740230 | TBX22 | c.475T>C (p.Ser159Pro) c.*87T>C (n.*87T>C) n.354T>C c.115T>C (p.Ser39Pro) c.478T>C (p.Ser160Pro) | |
| X | g.80025619T>G | CA413740231 | TBX22 | c.475T>G (p.Ser159Ala) c.*87T>G (n.*87T>G) n.354T>G c.115T>G (p.Ser39Ala) c.478T>G (p.Ser160Ala) | |
| X | g.80025620C>A | CA413740232 | TBX22 | c.476C>A (p.Ser159Ter) c.*88C>A (n.*88C>A) n.355C>A c.116C>A (p.Ser39Ter) c.479C>A (p.Ser160Ter) | |
| X | g.80025620C>G | CA413740233 | TBX22 | c.476C>G (p.Ser159Ter) c.*88C>G (n.*88C>G) n.355C>G c.116C>G (p.Ser39Ter) c.479C>G (p.Ser160Ter) | |
| X | g.80025620C>T | CA413740234 | TBX22 | c.476C>T (p.Ser159Leu) c.*88C>T (n.*88C>T) n.355C>T c.116C>T (p.Ser39Leu) c.479C>T (p.Ser160Leu) | |
| X | g.80025621A>C | CA517402897 | TBX22 | c.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 |
| X | g.80025621A>G | CA517402898 | TBX22 | c.477A>G (p.Ser159=) c.*89A>G (n.*89A>G) n.356A>G c.117A>G (p.Ser39=) c.480A>G (p.Ser160=) | |
| X | g.80025621A>T | CA517402899 | TBX22 | c.477A>T (p.Ser159=) c.*89A>T (n.*89A>T) n.356A>T c.117A>T (p.Ser39=) c.480A>T (p.Ser160=) | |
| X | g.80025622C>A | CA413740235 | TBX22 | c.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 |
| X | g.80025622C>G | CA413740236 | TBX22 | c.478C>G (p.Gln160Glu) c.*90C>G (n.*90C>G) n.357C>G c.118C>G (p.Gln40Glu) c.481C>G (p.Gln161Glu) | |
| X | g.80025622C>T | CA413740237 | TBX22 | c.478C>T (p.Gln160Ter) c.*90C>T (n.*90C>T) n.357C>T c.118C>T (p.Gln40Ter) c.481C>T (p.Gln161Ter) | |
| X | g.80025623A= | CA2439980337 | TBX22 | c.479A= (p.Gln160=) c.*91A= (n.*91A=) n.358A= c.119A= (p.Gln40=) c.482A= (p.Gln161=) | |
| X | g.80025623A>C | CA413740239 | TBX22 | c.479A>C (p.Gln160Pro) c.*91A>C (n.*91A>C) n.358A>C c.119A>C (p.Gln40Pro) c.482A>C (p.Gln161Pro) | |
| X | g.80025623A>G | CA413740240 | TBX22 | c.479A>G (p.Gln160Arg) c.*91A>G (n.*91A>G) n.358A>G c.119A>G (p.Gln40Arg) c.482A>G (p.Gln161Arg) | dbSNP |
| X | g.80025623A>T | CA413740238 | TBX22 | c.479A>T (p.Gln160Leu) c.*91A>T (n.*91A>T) n.358A>T c.119A>T (p.Gln40Leu) c.482A>T (p.Gln161Leu) | |
| X | g.80025624G>A | CA517402900 | TBX22 | c.480G>A (p.Gln160=) c.*92G>A (n.*92G>A) n.359G>A c.120G>A (p.Gln40=) c.483G>A (p.Gln161=) | |
| X | g.80025624G>C | CA413740241 | TBX22 | c.480G>C (p.Gln160His) c.*92G>C (n.*92G>C) n.359G>C c.120G>C (p.Gln40His) c.483G>C (p.Gln161His) | |
| X | g.80025624G>T | CA413740242 | TBX22 | c.480G>T (p.Gln160His) c.*92G>T (n.*92G>T) n.359G>T c.120G>T (p.Gln40His) c.483G>T (p.Gln161His) | |
| X | g.80025625T>A | CA413740243 | TBX22 | c.481T>A (p.Trp161Arg) c.*93T>A (n.*93T>A) n.360T>A c.121T>A (p.Trp41Arg) c.484T>A (p.Trp162Arg) | |
| X | g.80025625T>C | CA413740244 | TBX22 | c.481T>C (p.Trp161Arg) c.*93T>C (n.*93T>C) n.360T>C c.121T>C (p.Trp41Arg) c.484T>C (p.Trp162Arg) | |
| X | g.80025625T>G | CA413740245 | TBX22 | c.481T>G (p.Trp161Gly) c.*93T>G (n.*93T>G) n.360T>G c.121T>G (p.Trp41Gly) c.484T>G (p.Trp162Gly) | |
| X | g.80025626G>A | CA413740248 | TBX22 | c.482G>A (p.Trp161Ter) c.*94G>A (n.*94G>A) n.361G>A c.122G>A (p.Trp41Ter) c.485G>A (p.Trp162Ter) | |
| X | g.80025626G>C | CA413740246 | TBX22 | c.482G>C (p.Trp161Ser) c.*94G>C (n.*94G>C) n.361G>C c.122G>C (p.Trp41Ser) c.485G>C (p.Trp162Ser) | |
| X | g.80025626G>T | CA413740247 | TBX22 | c.482G>T (p.Trp161Leu) c.*94G>T (n.*94G>T) n.361G>T c.122G>T (p.Trp41Leu) c.485G>T (p.Trp162Leu) | |
| X | g.80025627G>A | CA413740249 | TBX22 | c.483G>A (p.Trp161Ter) c.*95G>A (n.*95G>A) n.362G>A c.123G>A (p.Trp41Ter) c.486G>A (p.Trp162Ter) | |
| X | g.80025627G>C | CA413740250 | TBX22 | c.483G>C (p.Trp161Cys) c.*95G>C (n.*95G>C) n.362G>C c.123G>C (p.Trp41Cys) c.486G>C (p.Trp162Cys) | |
| X | g.80025627G>T | CA413740251 | TBX22 | c.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 |
| X | g.80025628A>C | CA413740252 | TBX22 | c.484A>C (p.Met162Leu) c.*96A>C (n.*96A>C) n.363A>C c.124A>C (p.Met42Leu) c.487A>C (p.Met163Leu) | |
| X | g.80025628A>G | CA413740253 | TBX22 | c.484A>G (p.Met162Val) c.*96A>G (n.*96A>G) n.363A>G c.124A>G (p.Met42Val) c.487A>G (p.Met163Val) | |
| X | g.80025628A>T | CA413740254 | TBX22 | c.484A>T (p.Met162Leu) c.*96A>T (n.*96A>T) n.363A>T c.124A>T (p.Met42Leu) c.487A>T (p.Met163Leu) | |
| X | g.80025629T>A | CA413740256 | TBX22 | c.485T>A (p.Met162Lys) c.*97T>A (n.*97T>A) n.364T>A c.125T>A (p.Met42Lys) c.488T>A (p.Met163Lys) | |
| X | g.80025629T>C | CA413740257 | TBX22 | c.485T>C (p.Met162Thr) c.*97T>C (n.*97T>C) n.364T>C c.125T>C (p.Met42Thr) c.488T>C (p.Met163Thr) | |
| X | g.80025629T>G | CA413740255 | TBX22 | c.485T>G (p.Met162Arg) c.*97T>G (n.*97T>G) n.364T>G c.125T>G (p.Met42Arg) c.488T>G (p.Met163Arg) | |
| X | g.80025630G>A | CA413740260 | TBX22 | c.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 |
| X | g.80025630G>C | CA413740258 | TBX22 | c.486G>C (p.Met162Ile) c.*98G>C (n.*98G>C) n.365G>C c.126G>C (p.Met42Ile) c.489G>C (p.Met163Ile) | |
| X | g.80025630G= | CA2439980338 | TBX22 | c.486G= (p.Met162=) c.*98G= (n.*98G=) n.365G= c.126G= (p.Met42=) c.489G= (p.Met163=) | |
| X | g.80025630G>T | CA413740259 | TBX22 | c.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 |
| X | g.80025631G>A | CA413740261 | TBX22 | c.487G>A (p.Val163Ile) c.*99G>A (n.*99G>A) n.366G>A c.127G>A (p.Val43Ile) c.490G>A (p.Val164Ile) | |
| X | g.80025631G>C | CA413740262 | TBX22 | c.487G>C (p.Val163Leu) c.*99G>C (n.*99G>C) n.366G>C c.127G>C (p.Val43Leu) c.490G>C (p.Val164Leu) | |
| X | g.80025631G>T | CA413740263 | TBX22 | c.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 |
| X | g.80025632del | CA2579651928 | TBX22 | c.488del (p.Val163GlufsTer?) c.*100del (n.*100del) n.367del c.128del (p.Val43GlufsTer?) c.491del (p.Val164GlufsTer?) | |
| X | g.80025632T>A | CA413740265 | TBX22 | c.488T>A (p.Val163Glu) c.*100T>A (n.*100T>A) n.367T>A c.128T>A (p.Val43Glu) c.491T>A (p.Val164Glu) | |
| X | g.80025632T>C | CA10461247 | TBX22 | c.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 |
| X | g.80025632T>G | CA413740264 | TBX22 | c.488T>G (p.Val163Gly) c.*100T>G (n.*100T>G) n.367T>G c.128T>G (p.Val43Gly) c.491T>G (p.Val164Gly) | |
| X | g.80025632T= | CA2439980339 | TBX22 | c.488T= (p.Val163=) c.*100T= (n.*100T=) n.367T= c.128T= (p.Val43=) c.491T= (p.Val164=) | |
| X | g.80025633A>C | CA517402901 | TBX22 | c.489A>C (p.Val163=) c.*101A>C (n.*101A>C) n.368A>C c.129A>C (p.Val43=) c.492A>C (p.Val164=) | |
| X | g.80025633A>G | CA517402902 | TBX22 | c.489A>G (p.Val163=) c.*101A>G (n.*101A>G) n.368A>G c.129A>G (p.Val43=) c.492A>G (p.Val164=) | |
| X | g.80025633A>T | CA517402903 | TBX22 | c.489A>T (p.Val163=) c.*101A>T (n.*101A>T) n.368A>T c.129A>T (p.Val43=) c.492A>T (p.Val164=) | |
| X | g.80025634G>A | CA413740266 | TBX22 | c.490G>A (p.Ala164Thr) c.*102G>A (n.*102G>A) n.369G>A c.130G>A (p.Ala44Thr) c.493G>A (p.Ala165Thr) | |
| X | g.80025634G>C | CA413740267 | TBX22 | c.490G>C (p.Ala164Pro) c.*102G>C (n.*102G>C) n.369G>C c.130G>C (p.Ala44Pro) c.493G>C (p.Ala165Pro) | |
| X | g.80025634G>T | CA413740268 | TBX22 | c.490G>T (p.Ala164Ser) c.*102G>T (n.*102G>T) n.369G>T c.130G>T (p.Ala44Ser) c.493G>T (p.Ala165Ser) | |
| X | g.80025635C>A | CA413740269 | TBX22 | c.491C>A (p.Ala164Asp) c.*103C>A (n.*103C>A) n.370C>A c.131C>A (p.Ala44Asp) c.494C>A (p.Ala165Asp) | |
| X | g.80025635C>G | CA413740270 | TBX22 | c.491C>G (p.Ala164Gly) c.*103C>G (n.*103C>G) n.370C>G c.131C>G (p.Ala44Gly) c.494C>G (p.Ala165Gly) | |
| X | g.80025635C>T | CA413740271 | TBX22 | c.491C>T (p.Ala164Val) c.*103C>T (n.*103C>T) n.370C>T c.131C>T (p.Ala44Val) c.494C>T (p.Ala165Val) | |
| X | g.80025636T>A | CA517402904 | TBX22 | c.492T>A (p.Ala164=) c.*104T>A (n.*104T>A) n.371T>A c.132T>A (p.Ala44=) c.495T>A (p.Ala165=) | |
| X | g.80025636T>C | CA517402905 | TBX22 | c.492T>C (p.Ala164=) c.*104T>C (n.*104T>C) n.371T>C c.132T>C (p.Ala44=) c.495T>C (p.Ala165=) | |
| X | g.80025636T>G | CA517402906 | TBX22 | c.492T>G (p.Ala164=) c.*104T>G (n.*104T>G) n.371T>G c.132T>G (p.Ala44=) c.495T>G (p.Ala165=) | |
| X | g.80025636dup | CA2738826488 | TBX22 | c.492dup (p.Gly165TrpfsTer11) c.*104dup (n.*104dup) n.371dup c.132dup (p.Gly45TrpfsTer11) c.495dup (p.Gly166TrpfsTer11) | dbSNP |
| X | g.80025637G>A | CA413740272 | TBX22 | c.493G>A (p.Gly165Arg) c.*105G>A (n.*105G>A) n.372G>A c.133G>A (p.Gly45Arg) c.496G>A (p.Gly166Arg) | |
| X | g.80025637G>C | CA413740274 | TBX22 | c.493G>C (p.Gly165Arg) c.*105G>C (n.*105G>C) n.372G>C c.133G>C (p.Gly45Arg) c.496G>C (p.Gly166Arg) | |
| X | g.80025637G>T | CA413740273 | TBX22 | c.493G>T (p.Gly165Trp) c.*105G>T (n.*105G>T) n.372G>T c.133G>T (p.Gly45Trp) c.496G>T (p.Gly166Trp) | |
| X | g.80025638G>A | CA413740275 | TBX22 | c.494G>A (p.Gly165Glu) c.*106G>A (n.*106G>A) n.373G>A c.134G>A (p.Gly45Glu) c.497G>A (p.Gly166Glu) | ClinVar |
| X | g.80025638G>C | CA413740276 | TBX22 | c.494G>C (p.Gly165Ala) c.*106G>C (n.*106G>C) n.373G>C c.134G>C (p.Gly45Ala) c.497G>C (p.Gly166Ala) | |
| X | g.80025638G>T | CA413740277 | TBX22 | c.494G>T (p.Gly165Val) c.*106G>T (n.*106G>T) n.373G>T c.134G>T (p.Gly45Val) c.497G>T (p.Gly166Val) | |
| X | g.80025639G>A | CA517402907 | TBX22 | c.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 |
| X | g.80025639G>C | CA517402908 | TBX22 | c.495G>C (p.Gly165=) c.*107G>C (n.*107G>C) n.374G>C c.135G>C (p.Gly45=) c.498G>C (p.Gly166=) | |
| X | g.80025639G= | CA2439980340 | TBX22 | c.495G= (p.Gly165=) c.*107G= (n.*107G=) n.374G= c.135G= (p.Gly45=) c.498G= (p.Gly166=) | |
| X | g.80025639G>T | CA517402909 | TBX22 | c.495G>T (p.Gly165=) c.*107G>T (n.*107G>T) n.374G>T c.135G>T (p.Gly45=) c.498G>T (p.Gly166=) | |
| X | g.80025640A>C | CA413740278 | TBX22 | c.496A>C (p.Asn166His) c.*108A>C (n.*108A>C) n.375A>C c.136A>C (p.Asn46His) c.499A>C (p.Asn167His) | |
| X | g.80025640A>G | CA413740279 | TBX22 | c.496A>G (p.Asn166Asp) c.*108A>G (n.*108A>G) n.375A>G c.136A>G (p.Asn46Asp) c.499A>G (p.Asn167Asp) | |
| X | g.80025640A>T | CA413740280 | TBX22 | c.496A>T (p.Asn166Tyr) c.*108A>T (n.*108A>T) n.375A>T c.136A>T (p.Asn46Tyr) c.499A>T (p.Asn167Tyr) | |
| X | g.80025641A>C | CA413740281 | TBX22 | c.497A>C (p.Asn166Thr) c.*109A>C (n.*109A>C) n.376A>C c.137A>C (p.Asn46Thr) c.500A>C (p.Asn167Thr) | |
| X | g.80025641A>G | CA413740282 | TBX22 | c.497A>G (p.Asn166Ser) c.*109A>G (n.*109A>G) n.376A>G c.137A>G (p.Asn46Ser) c.500A>G (p.Asn167Ser) | |
| X | g.80025641A>T | CA413740283 | TBX22 | c.497A>T (p.Asn166Ile) c.*109A>T (n.*109A>T) n.376A>T c.137A>T (p.Asn46Ile) c.500A>T (p.Asn167Ile) | |
| X | g.80025642T>A | CA413740284 | TBX22 | c.498T>A (p.Asn166Lys) c.*110T>A (n.*110T>A) n.377T>A c.138T>A (p.Asn46Lys) c.501T>A (p.Asn167Lys) | |
| X | g.80025642T>C | CA517402910 | TBX22 | c.498T>C (p.Asn166=) c.*110T>C (n.*110T>C) n.377T>C c.138T>C (p.Asn46=) c.501T>C (p.Asn167=) | |
| X | g.80025642T>G | CA413740285 | TBX22 | c.498T>G (p.Asn166Lys) c.*110T>G (n.*110T>G) n.377T>G c.138T>G (p.Asn46Lys) c.501T>G (p.Asn167Lys) | |
| X | g.80025643A>C | CA413740288 | TBX22 | c.499A>C (p.Thr167Pro) c.*111A>C (n.*111A>C) n.378A>C c.139A>C (p.Thr47Pro) c.502A>C (p.Thr168Pro) | |
| X | g.80025643A>G | CA413740287 | TBX22 | c.499A>G (p.Thr167Ala) c.*111A>G (n.*111A>G) n.378A>G c.139A>G (p.Thr47Ala) c.502A>G (p.Thr168Ala) | |
| X | g.80025643A>T | CA413740286 | TBX22 | c.499A>T (p.Thr167Ser) c.*111A>T (n.*111A>T) n.378A>T c.139A>T (p.Thr47Ser) c.502A>T (p.Thr168Ser) | |
| X | g.80025644C>A | CA413740291 | TBX22 | c.500C>A (p.Thr167Lys) c.*112C>A (n.*112C>A) n.379C>A c.140C>A (p.Thr47Lys) c.503C>A (p.Thr168Lys) | |
| X | g.80025644C= | CA2439980341 | TBX22 | c.500C= (p.Thr167=) c.*112C= (n.*112C=) n.379C= c.140C= (p.Thr47=) c.503C= (p.Thr168=) | |
| X | g.80025644C>G | CA413740289 | TBX22 | c.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 |
| X | g.80025644C>T | CA413740290 | TBX22 | c.500C>T (p.Thr167Ile) c.*112C>T (n.*112C>T) n.379C>T c.140C>T (p.Thr47Ile) c.503C>T (p.Thr168Ile) | |
| X | g.80025645A>C | CA517402911 | TBX22 | c.501A>C (p.Thr167=) c.*113A>C (n.*113A>C) n.380A>C c.141A>C (p.Thr47=) c.504A>C (p.Thr168=) | |
| X | g.80025645A>G | CA517402912 | TBX22 | c.501A>G (p.Thr167=) c.*113A>G (n.*113A>G) n.380A>G c.141A>G (p.Thr47=) c.504A>G (p.Thr168=) | |
| X | g.80025645A>T | CA517402913 | TBX22 | c.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 |
| X | g.80025646G>A | CA413740292 | TBX22 | c.502G>A (p.Asp168Asn) c.*114G>A (n.*114G>A) n.381G>A c.142G>A (p.Asp48Asn) c.505G>A (p.Asp169Asn) | |
| X | g.80025646G>C | CA413740293 | TBX22 | c.502G>C (p.Asp168His) c.*114G>C (n.*114G>C) n.381G>C c.142G>C (p.Asp48His) c.505G>C (p.Asp169His) | |
| X | g.80025646G>T | CA413740294 | TBX22 | c.502G>T (p.Asp168Tyr) c.*114G>T (n.*114G>T) n.381G>T c.142G>T (p.Asp48Tyr) c.505G>T (p.Asp169Tyr) | |
| X | g.80025647A= | CA2439980342 | TBX22 | c.503A= (p.Asp168=) c.*115A= (n.*115A=) n.382A= c.143A= (p.Asp48=) c.506A= (p.Asp169=) | |
| X | g.80025647A>C | CA413740295 | TBX22 | c.503A>C (p.Asp168Ala) c.*115A>C (n.*115A>C) n.382A>C c.143A>C (p.Asp48Ala) c.506A>C (p.Asp169Ala) | dbSNP |
| X | g.80025647A>G | CA413740296 | TBX22 | c.503A>G (p.Asp168Gly) c.*115A>G (n.*115A>G) n.382A>G c.143A>G (p.Asp48Gly) c.506A>G (p.Asp169Gly) | |
| X | g.80025647A>T | CA413740297 | TBX22 | c.503A>T (p.Asp168Val) c.*115A>T (n.*115A>T) n.382A>T c.143A>T (p.Asp48Val) c.506A>T (p.Asp169Val) | |
| X | g.80025648C>A | CA413740298 | TBX22 | c.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 |
| X | g.80025648C>G | CA413740299 | TBX22 | c.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 |
| X | g.80025648C>T | CA517402915 | TBX22 | c.504C>T (p.Asp168=) c.*116C>T (n.*116C>T) n.383C>T c.144C>T (p.Asp48=) c.507C>T (p.Asp169=) | |
| X | g.80025649C>A | CA413740300 | TBX22 | c.505C>A (p.His169Asn) c.*117C>A (n.*117C>A) n.384C>A c.145C>A (p.His49Asn) c.508C>A (p.His170Asn) | |
| X | g.80025649C>G | CA413740301 | TBX22 | c.505C>G (p.His169Asp) c.*117C>G (n.*117C>G) n.384C>G c.145C>G (p.His49Asp) c.508C>G (p.His170Asp) | |
| X | g.80025649C>T | CA413740302 | TBX22 | c.505C>T (p.His169Tyr) c.*117C>T (n.*117C>T) n.384C>T c.145C>T (p.His49Tyr) c.508C>T (p.His170Tyr) | |
| X | g.80025650A>C | CA413740305 | TBX22 | c.506A>C (p.His169Pro) c.*118A>C (n.*118A>C) n.385A>C c.146A>C (p.His49Pro) c.509A>C (p.His170Pro) | |
| X | g.80025650A>G | CA413740303 | TBX22 | c.506A>G (p.His169Arg) c.*118A>G (n.*118A>G) n.385A>G c.146A>G (p.His49Arg) c.509A>G (p.His170Arg) | |
| X | g.80025650A>T | CA413740304 | TBX22 | c.506A>T (p.His169Leu) c.*118A>T (n.*118A>T) n.385A>T c.146A>T (p.His49Leu) c.509A>T (p.His170Leu) | |
| X | g.80025651T>A | CA413740306 | TBX22 | c.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 |
| X | g.80025651T>C | CA517402916 | TBX22 | c.507T>C (p.His169=) c.*119T>C (n.*119T>C) n.386T>C c.147T>C (p.His49=) c.510T>C (p.His170=) | |
| X | g.80025651T>G | CA413740307 | TBX22 | c.507T>G (p.His169Gln) c.*119T>G (n.*119T>G) n.386T>G c.147T>G (p.His49Gln) c.510T>G (p.His170Gln) | |
| X | g.80025651T= | CA2439980343 | TBX22 | c.507T= (p.His169=) c.*119T= (n.*119T=) n.386T= c.147T= (p.His49=) c.510T= (p.His170=) | |
| X | g.80025652T>A | CA413740308 | TBX22 | c.508T>A (p.Leu170Met) c.*120T>A (n.*120T>A) n.387T>A c.148T>A (p.Leu50Met) c.511T>A (p.Leu171Met) | |
| X | g.80025652T>C | CA10461248 | TBX22 | c.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 |
| X | g.80025652T>G | CA413740309 | TBX22 | c.508T>G (p.Leu170Val) c.*120T>G (n.*120T>G) n.387T>G c.148T>G (p.Leu50Val) c.511T>G (p.Leu171Val) | |
| X | g.80025652T= | CA2439980344 | TBX22 | c.508T= (p.Leu170=) c.*120T= (n.*120T=) n.387T= c.148T= (p.Leu50=) c.511T= (p.Leu171=) | |
| X | g.80025653T>A | CA413740310 | TBX22 | c.509T>A (p.Leu170Ter) c.*121T>A (n.*121T>A) n.388T>A c.149T>A (p.Leu50Ter) c.512T>A (p.Leu171Ter) | |
| X | g.80025653T>C | CA413740311 | TBX22 | c.509T>C (p.Leu170Ser) c.*121T>C (n.*121T>C) n.388T>C c.149T>C (p.Leu50Ser) c.512T>C (p.Leu171Ser) | |
| X | g.80025653T>G | CA413740312 | TBX22 | c.509T>G (p.Leu170Trp) c.*121T>G (n.*121T>G) n.388T>G c.149T>G (p.Leu50Trp) c.512T>G (p.Leu171Trp) | |
| X | g.80025654G>A | CA517402917 | TBX22 | c.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 |
| X | g.80025654G>C | CA413740313 | TBX22 | c.510G>C (p.Leu170Phe) c.*122G>C (n.*122G>C) n.389G>C c.150G>C (p.Leu50Phe) c.513G>C (p.Leu171Phe) | dbSNP |
| X | g.80025654G= | CA2439980345 | TBX22 | c.510G= (p.Leu170=) c.*122G= (n.*122G=) n.389G= c.150G= (p.Leu50=) c.513G= (p.Leu171=) | |
| X | g.80025654G>T | CA10461249 | TBX22 | c.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 |
| X | g.80025655T>A | CA413740314 | TBX22 | c.511T>A (p.Cys171Ser) c.*123T>A (n.*123T>A) n.390T>A c.151T>A (p.Cys51Ser) c.514T>A (p.Cys172Ser) | |
| X | g.80025655T>C | CA413740315 | TBX22 | c.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 |
| X | g.80025655T>G | CA413740316 | TBX22 | c.511T>G (p.Cys171Gly) c.*123T>G (n.*123T>G) n.390T>G c.151T>G (p.Cys51Gly) c.514T>G (p.Cys172Gly) | |
| X | g.80025655T= | CA2439980346 | TBX22 | c.511T= (p.Cys171=) c.*123T= (n.*123T=) n.390T= c.151T= (p.Cys51=) c.514T= (p.Cys172=) | |
| X | g.80025656G>A | CA10461250 | TBX22 | c.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 |
| X | g.80025656G>C | CA413740318 | TBX22 | c.512G>C (p.Cys171Ser) c.*124G>C (n.*124G>C) n.391G>C c.152G>C (p.Cys51Ser) c.515G>C (p.Cys172Ser) | |
| X | g.80025656G= | CA2439980347 | TBX22 | c.512G= (p.Cys171=) c.*124G= (n.*124G=) n.391G= c.152G= (p.Cys51=) c.515G= (p.Cys172=) | |
| X | g.80025656G>T | CA413740317 | TBX22 | c.512G>T (p.Cys171Phe) c.*124G>T (n.*124G>T) n.391G>T c.152G>T (p.Cys51Phe) c.515G>T (p.Cys172Phe) | |
| X | g.80025657C>A | CA413740319 | TBX22 | c.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 |
| X | g.80025657C= | CA2439980348 | TBX22 | c.513C= (p.Cys171=) c.*125C= (n.*125C=) n.392C= c.153C= (p.Cys51=) c.516C= (p.Cys172=) | |
| X | g.80025657C>G | CA413740320 | TBX22 | c.513C>G (p.Cys171Trp) c.*125C>G (n.*125C>G) n.392C>G c.153C>G (p.Cys51Trp) c.516C>G (p.Cys172Trp) | |
| X | g.80025657C>T | CA517402918 | TBX22 | c.513C>T (p.Cys171=) c.*125C>T (n.*125C>T) n.392C>T c.153C>T (p.Cys51=) c.516C>T (p.Cys172=) | dbSNP |
| X | g.80025658A= | CA2439980349 | TBX22 | c.514A= (p.Ile172=) c.*126A= (n.*126A=) n.393A= c.154A= (p.Ile52=) c.517A= (p.Ile173=) | |
| X | g.80025658A>C | CA331778095 | TBX22 | c.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 |
| X | g.80025658A>G | CA413740321 | TBX22 | c.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 |
| X | g.80025658A>T | CA413740322 | TBX22 | c.514A>T (p.Ile172Phe) c.*126A>T (n.*126A>T) n.393A>T c.154A>T (p.Ile52Phe) c.517A>T (p.Ile173Phe) | |
| X | g.80025659T>A | CA413740323 | TBX22 | c.515T>A (p.Ile172Asn) c.*127T>A (n.*127T>A) n.394T>A c.155T>A (p.Ile52Asn) c.518T>A (p.Ile173Asn) | |
| X | g.80025659T>C | CA413740324 | TBX22 | c.515T>C (p.Ile172Thr) c.*127T>C (n.*127T>C) n.394T>C c.155T>C (p.Ile52Thr) c.518T>C (p.Ile173Thr) | |
| X | g.80025659T>G | CA413740325 | TBX22 | c.515T>G (p.Ile172Ser) c.*127T>G (n.*127T>G) n.394T>G c.155T>G (p.Ile52Ser) c.518T>G (p.Ile173Ser) | |
| X | g.80025660C>A | CA517402919 | TBX22 | c.516C>A (p.Ile172=) c.*128C>A (n.*128C>A) n.395C>A c.156C>A (p.Ile52=) c.519C>A (p.Ile173=) | COSMIC |
| X | g.80025660C>G | CA413740326 | TBX22 | c.516C>G (p.Ile172Met) c.*128C>G (n.*128C>G) n.395C>G c.156C>G (p.Ile52Met) c.519C>G (p.Ile173Met) | |
| X | g.80025660C>T | CA517402920 | TBX22 | c.516C>T (p.Ile172=) c.*128C>T (n.*128C>T) n.395C>T c.156C>T (p.Ile52=) c.519C>T (p.Ile173=) | |
| X | g.80025660_80025661del | CA2579651929 | TBX22 | c.516_517del (p.Ile173SerfsTer2) c.*128_*129del (n.*128_*129del) n.395_396del c.156_157del (p.Ile53SerfsTer2) c.519_520del (p.Ile174SerfsTer2) | |
| X | g.80025661A>C | CA413740327 | TBX22 | c.517A>C (p.Ile173Leu) c.*129A>C (n.*129A>C) n.396A>C c.157A>C (p.Ile53Leu) c.520A>C (p.Ile174Leu) | |
| X | g.80025661A>G | CA413740329 | TBX22 | c.517A>G (p.Ile173Val) c.*129A>G (n.*129A>G) n.396A>G c.157A>G (p.Ile53Val) c.520A>G (p.Ile174Val) | |
| X | g.80025661A>T | CA413740328 | TBX22 | c.517A>T (p.Ile173Phe) c.*129A>T (n.*129A>T) n.396A>T c.157A>T (p.Ile53Phe) c.520A>T (p.Ile174Phe) | |
| X | g.80025662T>A | CA413740330 | TBX22 | c.518T>A (p.Ile173Asn) c.*130T>A (n.*130T>A) n.397T>A c.158T>A (p.Ile53Asn) c.521T>A (p.Ile174Asn) | |
| X | g.80025662T>C | CA413740331 | TBX22 | c.518T>C (p.Ile173Thr) c.*130T>C (n.*130T>C) n.397T>C c.158T>C (p.Ile53Thr) c.521T>C (p.Ile174Thr) | dbSNP |
| X | g.80025662T>G | CA413740332 | TBX22 | c.518T>G (p.Ile173Ser) c.*130T>G (n.*130T>G) n.397T>G c.158T>G (p.Ile53Ser) c.521T>G (p.Ile174Ser) | |
| X | g.80025662T= | CA2439980350 | TBX22 | c.518T= (p.Ile173=) c.*130T= (n.*130T=) n.397T= c.158T= (p.Ile53=) c.521T= (p.Ile174=) | |
| X | g.80025663T>A | CA517402921 | TBX22 | c.519T>A (p.Ile173=) c.*131T>A (n.*131T>A) n.398T>A c.159T>A (p.Ile53=) c.522T>A (p.Ile174=) | |
| X | g.80025663T>C | CA517402922 | TBX22 | c.519T>C (p.Ile173=) c.*131T>C (n.*131T>C) n.398T>C c.159T>C (p.Ile53=) c.522T>C (p.Ile174=) | |
| X | g.80025663T>G | CA413740333 | TBX22 | c.519T>G (p.Ile173Met) c.*131T>G (n.*131T>G) n.398T>G c.159T>G (p.Ile53Met) c.522T>G (p.Ile174Met) | |
| X | g.80025664C>A | CA413740334 | TBX22 | c.520C>A (p.Pro174Thr) c.*132C>A (n.*132C>A) n.399C>A c.160C>A (p.Pro54Thr) c.523C>A (p.Pro175Thr) | COSMIC |
| X | g.80025664C>G | CA413740336 | TBX22 | c.520C>G (p.Pro174Ala) c.*132C>G (n.*132C>G) n.399C>G c.160C>G (p.Pro54Ala) c.523C>G (p.Pro175Ala) | |
| X | g.80025664C>T | CA413740335 | TBX22 | c.520C>T (p.Pro174Ser) c.*132C>T (n.*132C>T) n.399C>T c.160C>T (p.Pro54Ser) c.523C>T (p.Pro175Ser) | |
| X | g.80025665C>A | CA413740337 | TBX22 | c.521C>A (p.Pro174His) c.*133C>A (n.*133C>A) n.400C>A c.161C>A (p.Pro54His) c.524C>A (p.Pro175His) | |
| X | g.80025665C>G | CA413740338 | TBX22 | c.521C>G (p.Pro174Arg) c.*133C>G (n.*133C>G) n.400C>G c.161C>G (p.Pro54Arg) c.524C>G (p.Pro175Arg) | |
| X | g.80025665C>T | CA413740339 | TBX22 | c.521C>T (p.Pro174Leu) c.*133C>T (n.*133C>T) n.400C>T c.161C>T (p.Pro54Leu) c.524C>T (p.Pro175Leu) | |
| X | g.80025666T>A | CA517402923 | TBX22 | c.522T>A (p.Pro174=) c.*134T>A (n.*134T>A) n.401T>A c.162T>A (p.Pro54=) c.525T>A (p.Pro175=) | |
| X | g.80025666T>C | CA517402924 | TBX22 | c.522T>C (p.Pro174=) c.*134T>C (n.*134T>C) n.401T>C c.162T>C (p.Pro54=) c.525T>C (p.Pro175=) | |
| X | g.80025666T>G | CA517402925 | TBX22 | c.522T>G (p.Pro174=) c.*134T>G (n.*134T>G) n.401T>G c.162T>G (p.Pro54=) c.525T>G (p.Pro175=) | |
| X | g.80025667del | CA2822025041 | TBX22 | c.523del (p.Arg175AspfsTer25) c.*135del (n.*135del) n.402del c.163del (p.Arg55AspfsTer25) c.526del (p.Arg176AspfsTer25) | |
| X | g.80025667A>C | CA517402926 | TBX22 | c.523A>C (p.Arg175=) c.*135A>C (n.*135A>C) n.402A>C c.163A>C (p.Arg55=) c.526A>C (p.Arg176=) | |
| X | g.80025667A>G | CA413740340 | TBX22 | c.523A>G (p.Arg175Gly) c.*135A>G (n.*135A>G) n.402A>G c.163A>G (p.Arg55Gly) c.526A>G (p.Arg176Gly) | |
| X | g.80025667A>T | CA413740341 | TBX22 | c.523A>T (p.Arg175Ter) c.*135A>T (n.*135A>T) n.402A>T c.163A>T (p.Arg55Ter) c.526A>T (p.Arg176Ter) | |
| X | g.80025668G>A | CA413740342 | TBX22 | c.524G>A (p.Arg175Lys) c.*136G>A (n.*136G>A) n.403G>A c.164G>A (p.Arg55Lys) c.527G>A (p.Arg176Lys) | |
| X | g.80025668G>C | CA413740343 | TBX22 | c.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 |
| X | g.80025668G>T | CA413740344 | TBX22 | c.524G>T (p.Arg175Ile) c.*136G>T (n.*136G>T) n.403G>T c.164G>T (p.Arg55Ile) c.527G>T (p.Arg176Ile) | |
| X | g.80025669A= | CA2439980351 | TBX22 | c.525A= (p.Arg175=) c.*137A= (n.*137A=) n.404A= c.165A= (p.Arg55=) c.528A= (p.Arg176=) | |
| X | g.80025669A>C | CA413740345 | TBX22 | c.525A>C (p.Arg175Ser) c.*137A>C (n.*137A>C) n.404A>C c.165A>C (p.Arg55Ser) c.528A>C (p.Arg176Ser) | |
| X | g.80025669A>G | CA517402927 | TBX22 | c.525A>G (p.Arg175=) c.*137A>G (n.*137A>G) n.404A>G c.165A>G (p.Arg55=) c.528A>G (p.Arg176=) | dbSNP |
| X | g.80025669A>T | CA413740346 | TBX22 | c.525A>T (p.Arg175Ser) c.*137A>T (n.*137A>T) n.404A>T c.165A>T (p.Arg55Ser) c.528A>T (p.Arg176Ser) | |
| X | g.80025670T>A | CA413740348 | TBX22 | c.526T>A (p.Phe176Ile) c.*138T>A (n.*138T>A) n.405T>A c.166T>A (p.Phe56Ile) c.529T>A (p.Phe177Ile) | |
| X | g.80025670T>C | CA10461251 | TBX22 | c.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 |
| X | g.80025670T>G | CA413740347 | TBX22 | c.526T>G (p.Phe176Val) c.*138T>G (n.*138T>G) n.405T>G c.166T>G (p.Phe56Val) c.529T>G (p.Phe177Val) | |
| X | g.80025670T= | CA2439980352 | TBX22 | c.526T= (p.Phe176=) c.*138T= (n.*138T=) n.405T= c.166T= (p.Phe56=) c.529T= (p.Phe177=) | |
| X | g.80025671T>A | CA413740349 | TBX22 | c.527T>A (p.Phe176Tyr) c.*139T>A (n.*139T>A) n.406T>A c.167T>A (p.Phe56Tyr) c.530T>A (p.Phe177Tyr) | |
| X | g.80025671T>C | CA413740350 | TBX22 | c.527T>C (p.Phe176Ser) c.*139T>C (n.*139T>C) n.406T>C c.167T>C (p.Phe56Ser) c.530T>C (p.Phe177Ser) | |
| X | g.80025671T>G | CA413740351 | TBX22 | c.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 |
| X | g.80025672C>A | CA413740352 | TBX22 | c.528C>A (p.Phe176Leu) c.*140C>A (n.*140C>A) n.407C>A c.168C>A (p.Phe56Leu) c.531C>A (p.Phe177Leu) | |
| X | g.80025672C= | CA2439980353 | TBX22 | c.528C= (p.Phe176=) c.*140C= (n.*140C=) n.407C= c.168C= (p.Phe56=) c.531C= (p.Phe177=) | |
| X | g.80025672C>G | CA413740353 | TBX22 | c.528C>G (p.Phe176Leu) c.*140C>G (n.*140C>G) n.407C>G c.168C>G (p.Phe56Leu) c.531C>G (p.Phe177Leu) | |
| X | g.80025672C>T | CA517402930 | TBX22 | c.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 |
| X | g.80025673T>A | CA413740354 | TBX22 | c.529T>A (p.Tyr177Asn) c.*141T>A (n.*141T>A) n.408T>A c.169T>A (p.Tyr57Asn) c.532T>A (p.Tyr178Asn) | |
| X | g.80025673T>C | CA413740355 | TBX22 | c.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 |
| X | g.80025673T>G | CA413740356 | TBX22 | c.529T>G (p.Tyr177Asp) c.*141T>G (n.*141T>G) n.408T>G c.169T>G (p.Tyr57Asp) c.532T>G (p.Tyr178Asp) | |
| X | g.80025673T= | CA2439980354 | TBX22 | c.529T= (p.Tyr177=) c.*141T= (n.*141T=) n.408T= c.169T= (p.Tyr57=) c.532T= (p.Tyr178=) | |
| X | g.80025674A>C | CA413740357 | TBX22 | c.530A>C (p.Tyr177Ser) c.*142A>C (n.*142A>C) n.409A>C c.170A>C (p.Tyr57Ser) c.533A>C (p.Tyr178Ser) | |
| X | g.80025674A>G | CA413740358 | TBX22 | c.530A>G (p.Tyr177Cys) c.*142A>G (n.*142A>G) n.409A>G c.170A>G (p.Tyr57Cys) c.533A>G (p.Tyr178Cys) | |
| X | g.80025674A>T | CA413740359 | TBX22 | c.530A>T (p.Tyr177Phe) c.*142A>T (n.*142A>T) n.409A>T c.170A>T (p.Tyr57Phe) c.533A>T (p.Tyr178Phe) | |
| X | g.80025675T>A | CA413740360 | TBX22 | c.531T>A (p.Tyr177Ter) c.*143T>A (n.*143T>A) n.410T>A c.171T>A (p.Tyr57Ter) c.534T>A (p.Tyr178Ter) | |
| X | g.80025675T>C | CA517402933 | TBX22 | c.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 |
| X | g.80025675T>G | CA413740361 | TBX22 | c.531T>G (p.Tyr177Ter) c.*143T>G (n.*143T>G) n.410T>G c.171T>G (p.Tyr57Ter) c.534T>G (p.Tyr178Ter) | |
| X | g.80025675T= | CA2439980355 | TBX22 | c.531T= (p.Tyr177=) c.*143T= (n.*143T=) n.410T= c.171T= (p.Tyr57=) c.534T= (p.Tyr178=) | |
| X | g.80025676G>A | CA413740364 | TBX22 | c.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 |
| X | g.80025676G>C | CA413740362 | TBX22 | c.532G>C (p.Val178Leu) c.*144G>C (n.*144G>C) n.411G>C c.172G>C (p.Val58Leu) c.535G>C (p.Val179Leu) | |
| X | g.80025676G= | CA2439980356 | TBX22 | c.532G= (p.Val178=) c.*144G= (n.*144G=) n.411G= c.172G= (p.Val58=) c.535G= (p.Val179=) | |
| X | g.80025676G>T | CA413740363 | TBX22 | c.532G>T (p.Val178Phe) c.*144G>T (n.*144G>T) n.411G>T c.172G>T (p.Val58Phe) c.535G>T (p.Val179Phe) | |
| X | g.80025677T>A | CA413740365 | TBX22 | c.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 |
| X | g.80025677T>C | CA413740366 | TBX22 | c.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 |
| X | g.80025677T>G | CA413740367 | TBX22 | c.533T>G (p.Val178Gly) c.*145T>G (n.*145T>G) n.412T>G c.173T>G (p.Val58Gly) c.536T>G (p.Val179Gly) | |
| X | g.80025677T= | CA2439980357 | TBX22 | c.533T= (p.Val178=) c.*145T= (n.*145T=) n.412T= c.173T= (p.Val58=) c.536T= (p.Val179=) | |
| X | g.80025678T>A | CA517402935 | TBX22 | c.534T>A (p.Val178=) c.*146T>A (n.*146T>A) n.413T>A c.174T>A (p.Val58=) c.537T>A (p.Val179=) | |
| X | g.80025678T>C | CA517402936 | TBX22 | c.534T>C (p.Val178=) c.*146T>C (n.*146T>C) n.413T>C c.174T>C (p.Val58=) c.537T>C (p.Val179=) | |
| X | g.80025678T>G | CA517402937 | TBX22 | c.534T>G (p.Val178=) c.*146T>G (n.*146T>G) n.413T>G c.174T>G (p.Val58=) c.537T>G (p.Val179=) | |
| X | g.80025679C>A | CA413740368 | TBX22 | c.535C>A (p.His179Asn) c.*147C>A (n.*147C>A) n.414C>A c.175C>A (p.His59Asn) c.538C>A (p.His180Asn) | |
| X | g.80025679C>G | CA413740369 | TBX22 | c.535C>G (p.His179Asp) c.*147C>G (n.*147C>G) n.414C>G c.175C>G (p.His59Asp) c.538C>G (p.His180Asp) | |
| X | g.80025679C>T | CA413740370 | TBX22 | c.535C>T (p.His179Tyr) c.*147C>T (n.*147C>T) n.414C>T c.175C>T (p.His59Tyr) c.538C>T (p.His180Tyr) | |
| X | g.80025680A>C | CA413740371 | TBX22 | c.536A>C (p.His179Pro) c.*148A>C (n.*148A>C) n.415A>C c.176A>C (p.His59Pro) c.539A>C (p.His180Pro) | |
| X | g.80025680A>G | CA413740372 | TBX22 | c.536A>G (p.His179Arg) c.*148A>G (n.*148A>G) n.415A>G c.176A>G (p.His59Arg) c.539A>G (p.His180Arg) | |
| X | g.80025680A>T | CA413740373 | TBX22 | c.536A>T (p.His179Leu) c.*148A>T (n.*148A>T) n.415A>T c.176A>T (p.His59Leu) c.539A>T (p.His180Leu) | |
| X | g.80025681C>A | CA413740374 | TBX22 | c.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 |
| X | g.80025681C= | CA2439980358 | TBX22 | c.537C= (p.His179=) c.*149C= (n.*149C=) n.416C= c.177C= (p.His59=) c.540C= (p.His180=) | |
| X | g.80025681C>G | CA413740375 | TBX22 | c.537C>G (p.His179Gln) c.*149C>G (n.*149C>G) n.416C>G c.177C>G (p.His59Gln) c.540C>G (p.His180Gln) | |
| X | g.80025681C>T | CA10461252 | TBX22 | c.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 |
| X | g.80025682C>A | CA413740377 | TBX22 | c.538C>A (p.Pro180Thr) c.*150C>A (n.*150C>A) n.417C>A c.178C>A (p.Pro60Thr) c.541C>A (p.Pro181Thr) | |
| X | g.80025682C>G | CA413740378 | TBX22 | c.538C>G (p.Pro180Ala) c.*150C>G (n.*150C>G) n.417C>G c.178C>G (p.Pro60Ala) c.541C>G (p.Pro181Ala) | |
| X | g.80025682C>T | CA413740376 | TBX22 | c.538C>T (p.Pro180Ser) c.*150C>T (n.*150C>T) n.417C>T c.178C>T (p.Pro60Ser) c.541C>T (p.Pro181Ser) | |
| X | g.80025683C>A | CA413740380 | TBX22 | c.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 |
| X | g.80025683C= | CA2439980359 | TBX22 | c.539C= (p.Pro180=) c.*151C= (n.*151C=) n.418C= c.179C= (p.Pro60=) c.542C= (p.Pro181=) | |
| X | g.80025683C>G | CA413740379 | TBX22 | c.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 |
| X | g.80025683C>T | CA10461253 | TBX22 | c.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 |
| X | g.80025684G>A | CA10461254 | TBX22 | c.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 |
| X | g.80025684G>C | CA517402939 | TBX22 | c.540G>C (p.Pro180=) c.*152G>C (n.*152G>C) n.419G>C c.180G>C (p.Pro60=) c.543G>C (p.Pro181=) | |
| X | g.80025684G= | CA2439980360 | TBX22 | c.540G= (p.Pro180=) c.*152G= (n.*152G=) n.419G= c.180G= (p.Pro60=) c.543G= (p.Pro181=) | |
| X | g.80025684G>T | CA517402938 | TBX22 | c.540G>T (p.Pro180=) c.*152G>T (n.*152G>T) n.419G>T c.180G>T (p.Pro60=) c.543G>T (p.Pro181=) | |
| X | g.80025685G>A | CA413740382 | TBX22 | c.541G>A (p.Asp181Asn) c.*153G>A (n.*153G>A) n.420G>A c.181G>A (p.Asp61Asn) c.544G>A (p.Asp182Asn) | |
| X | g.80025685G>C | CA413740381 | TBX22 | c.541G>C (p.Asp181His) c.*153G>C (n.*153G>C) n.420G>C c.181G>C (p.Asp61His) c.544G>C (p.Asp182His) | |
| X | g.80025685G>T | CA413740383 | TBX22 | c.541G>T (p.Asp181Tyr) c.*153G>T (n.*153G>T) n.420G>T c.181G>T (p.Asp61Tyr) c.544G>T (p.Asp182Tyr) | |
| X | g.80025686A>C | CA413740384 | TBX22 | c.542A>C (p.Asp181Ala) c.*154A>C (n.*154A>C) n.421A>C c.182A>C (p.Asp61Ala) c.545A>C (p.Asp182Ala) | COSMIC |
| X | g.80025686A>G | CA413740386 | TBX22 | c.542A>G (p.Asp181Gly) c.*154A>G (n.*154A>G) n.421A>G c.182A>G (p.Asp61Gly) c.545A>G (p.Asp182Gly) | |
| X | g.80025686A>T | CA413740385 | TBX22 | c.542A>T (p.Asp181Val) c.*154A>T (n.*154A>T) n.421A>T c.182A>T (p.Asp61Val) c.545A>T (p.Asp182Val) | |
| X | g.80025687C>A | CA413740387 | TBX22 | c.543C>A (p.Asp181Glu) c.*155C>A (n.*155C>A) n.422C>A c.183C>A (p.Asp61Glu) c.546C>A (p.Asp182Glu) | |
| X | g.80025687C= | CA2439980361 | TBX22 | c.543C= (p.Asp181=) c.*155C= (n.*155C=) n.422C= c.183C= (p.Asp61=) c.546C= (p.Asp182=) | |
| X | g.80025687C>G | CA413740388 | TBX22 | c.543C>G (p.Asp181Glu) c.*155C>G (n.*155C>G) n.422C>G c.183C>G (p.Asp61Glu) c.546C>G (p.Asp182Glu) | |
| X | g.80025687C>T | CA10461255 | TBX22 | c.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 |
| X | g.80025688T>A | CA413740389 | TBX22 | c.544T>A (p.Ser182Thr) c.*156T>A (n.*156T>A) n.423T>A c.184T>A (p.Ser62Thr) c.547T>A (p.Ser183Thr) | |
| X | g.80025688T>C | CA413740390 | TBX22 | c.544T>C (p.Ser182Pro) c.*156T>C (n.*156T>C) n.423T>C c.184T>C (p.Ser62Pro) c.547T>C (p.Ser183Pro) | |
| X | g.80025688T>G | CA413740391 | TBX22 | c.544T>G (p.Ser182Ala) c.*156T>G (n.*156T>G) n.423T>G c.184T>G (p.Ser62Ala) c.547T>G (p.Ser183Ala) | |
| X | g.80025689C>A | CA413740392 | TBX22 | c.545C>A (p.Ser182Ter) c.*157C>A (n.*157C>A) n.424C>A c.185C>A (p.Ser62Ter) c.548C>A (p.Ser183Ter) | |
| X | g.80025689C>G | CA413740393 | TBX22 | c.545C>G (p.Ser182Ter) c.*157C>G (n.*157C>G) n.424C>G c.185C>G (p.Ser62Ter) c.548C>G (p.Ser183Ter) | |
| X | g.80025689C>T | CA413740394 | TBX22 | c.545C>T (p.Ser182Leu) c.*157C>T (n.*157C>T) n.424C>T c.185C>T (p.Ser62Leu) c.548C>T (p.Ser183Leu) | |
| X | g.80025690A>C | CA517402940 | TBX22 | c.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 |
| X | g.80025690A>G | CA517402941 | TBX22 | c.546A>G (p.Ser182=) c.*158A>G (n.*158A>G) n.425A>G c.186A>G (p.Ser62=) c.549A>G (p.Ser183=) | |
| X | g.80025690A>T | CA517402942 | TBX22 | c.546A>T (p.Ser182=) c.*158A>T (n.*158A>T) n.425A>T c.186A>T (p.Ser62=) c.549A>T (p.Ser183=) | |
| X | g.80025691C>A | CA10461256 | TBX22 | c.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 |
| X | g.80025691C= | CA2439980362 | TBX22 | c.547C= (p.Pro183=) c.*159C= (n.*159C=) n.426C= c.187C= (p.Pro63=) c.550C= (p.Pro184=) | |
| X | g.80025691C>G | CA413740395 | TBX22 | c.547C>G (p.Pro183Ala) c.*159C>G (n.*159C>G) n.426C>G c.187C>G (p.Pro63Ala) c.550C>G (p.Pro184Ala) | |
| X | g.80025691C>T | CA413740396 | TBX22 | c.547C>T (p.Pro183Ser) c.*159C>T (n.*159C>T) n.426C>T c.187C>T (p.Pro63Ser) c.550C>T (p.Pro184Ser) | |
| X | g.80025692C>A | CA413740397 | TBX22 | c.548C>A (p.Pro183His) c.*160C>A (n.*160C>A) n.427C>A c.188C>A (p.Pro63His) c.551C>A (p.Pro184His) | |
| X | g.80025692C>G | CA413740399 | TBX22 | c.548C>G (p.Pro183Arg) c.*160C>G (n.*160C>G) n.427C>G c.188C>G (p.Pro63Arg) c.551C>G (p.Pro184Arg) | |
| X | g.80025692C>T | CA413740398 | TBX22 | c.548C>T (p.Pro183Leu) c.*160C>T (n.*160C>T) n.427C>T c.188C>T (p.Pro63Leu) c.551C>T (p.Pro184Leu) | ClinVar |
| X | g.80025693C>A | CA517402944 | TBX22 | c.549C>A (p.Pro183=) c.*161C>A (n.*161C>A) n.428C>A c.189C>A (p.Pro63=) c.552C>A (p.Pro184=) | |
| X | g.80025693C= | CA2439980363 | TBX22 | c.549C= (p.Pro183=) c.*161C= (n.*161C=) n.428C= c.189C= (p.Pro63=) c.552C= (p.Pro184=) | |
| X | g.80025693C>G | CA10461257 | TBX22 | c.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 |
| X | g.80025693C>T | CA517402943 | TBX22 | c.549C>T (p.Pro183=) c.*161C>T (n.*161C>T) n.428C>T c.189C>T (p.Pro63=) c.552C>T (p.Pro184=) | |
| X | g.80025694T>A | CA413740400 | TBX22 | c.550T>A (p.Cys184Ser) c.*162T>A (n.*162T>A) n.429T>A c.190T>A (p.Cys64Ser) c.553T>A (p.Cys185Ser) | |
| X | g.80025694T>C | CA413740401 | TBX22 | c.550T>C (p.Cys184Arg) c.*162T>C (n.*162T>C) n.429T>C c.190T>C (p.Cys64Arg) c.553T>C (p.Cys185Arg) | |
| X | g.80025694T>G | CA413740402 | TBX22 | c.550T>G (p.Cys184Gly) c.*162T>G (n.*162T>G) n.429T>G c.190T>G (p.Cys64Gly) c.553T>G (p.Cys185Gly) | |
| X | g.80025695G>A | CA413740403 | TBX22 | c.551G>A (p.Cys184Tyr) c.*163G>A (n.*163G>A) n.430G>A c.191G>A (p.Cys64Tyr) c.554G>A (p.Cys185Tyr) | |
| X | g.80025695G>C | CA413740404 | TBX22 | c.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 |
| X | g.80025695G= | CA2439980364 | TBX22 | c.551G= (p.Cys184=) c.*163G= (n.*163G=) n.430G= c.191G= (p.Cys64=) c.554G= (p.Cys185=) | |
| X | g.80025695G>T | CA413740405 | TBX22 | c.551G>T (p.Cys184Phe) c.*163G>T (n.*163G>T) n.430G>T c.191G>T (p.Cys64Phe) c.554G>T (p.Cys185Phe) | COSMIC |
| X | g.80025696C>A | CA413740406 | TBX22 | c.552C>A (p.Cys184Ter) c.*164C>A (n.*164C>A) n.431C>A c.192C>A (p.Cys64Ter) c.555C>A (p.Cys185Ter) | |
| X | g.80025696C>G | CA413740407 | TBX22 | c.552C>G (p.Cys184Trp) c.*164C>G (n.*164C>G) n.431C>G c.192C>G (p.Cys64Trp) c.555C>G (p.Cys185Trp) | |
| X | g.80025696C>T | CA517402945 | TBX22 | c.552C>T (p.Cys184=) c.*164C>T (n.*164C>T) n.431C>T c.192C>T (p.Cys64=) c.555C>T (p.Cys185=) | |
| X | g.80025697T>A | CA413740410 | TBX22 | c.553T>A (p.Ser185Thr) c.*165T>A (n.*165T>A) n.432T>A c.193T>A (p.Ser65Thr) c.556T>A (p.Ser186Thr) | |
| X | g.80025697T>C | CA413740409 | TBX22 | c.553T>C (p.Ser185Pro) c.*165T>C (n.*165T>C) n.432T>C c.193T>C (p.Ser65Pro) c.556T>C (p.Ser186Pro) | |
| X | g.80025697T>G | CA413740408 | TBX22 | c.553T>G (p.Ser185Ala) c.*165T>G (n.*165T>G) n.432T>G c.193T>G (p.Ser65Ala) c.556T>G (p.Ser186Ala) | |
| X | g.80025698C>A | CA413740411 | TBX22 | c.554C>A (p.Ser185Ter) c.*166C>A (n.*166C>A) n.433C>A c.194C>A (p.Ser65Ter) c.557C>A (p.Ser186Ter) | |
| X | g.80025698C= | CA2439980365 | TBX22 | c.554C= (p.Ser185=) c.*166C= (n.*166C=) n.433C= c.194C= (p.Ser65=) c.557C= (p.Ser186=) | |
| X | g.80025698C>G | CA413740412 | TBX22 | c.554C>G (p.Ser185Trp) c.*166C>G (n.*166C>G) n.433C>G c.194C>G (p.Ser65Trp) c.557C>G (p.Ser186Trp) | |
| X | g.80025698C>T | CA10461258 | TBX22 | c.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 |
| X | g.80025699G>A | CA331778096 | TBX22 | c.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 |
| X | g.80025699G>C | CA517402946 | TBX22 | c.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 |
| X | g.80025699G= | CA2439980366 | TBX22 | c.555G= (p.Ser185=) c.*167G= (n.*167G=) n.434G= c.195G= (p.Ser65=) c.558G= (p.Ser186=) | |
| X | g.80025699G>T | CA517402947 | TBX22 | c.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 |
| X | g.80025700G>A | CA413740413 | TBX22 | c.556G>A (p.Gly186Arg) c.*168G>A (n.*168G>A) n.435G>A c.196G>A (p.Gly66Arg) c.559G>A (p.Gly187Arg) | |
| X | g.80025700G>C | CA413740414 | TBX22 | c.556G>C (p.Gly186Arg) c.*168G>C (n.*168G>C) n.435G>C c.196G>C (p.Gly66Arg) c.559G>C (p.Gly187Arg) | |
| X | g.80025700G>T | CA413740415 | TBX22 | c.556G>T (p.Gly186Ter) c.*168G>T (n.*168G>T) n.435G>T c.196G>T (p.Gly66Ter) c.559G>T (p.Gly187Ter) | |
| X | g.80025701G>A | CA413740416 | TBX22 | c.557G>A (p.Gly186Glu) c.*169G>A (n.*169G>A) n.436G>A c.197G>A (p.Gly66Glu) c.560G>A (p.Gly187Glu) | |
| X | g.80025701G>C | CA413740417 | TBX22 | c.557G>C (p.Gly186Ala) c.*169G>C (n.*169G>C) n.436G>C c.197G>C (p.Gly66Ala) c.560G>C (p.Gly187Ala) | |
| X | g.80025701G>T | CA413740418 | TBX22 | c.557G>T (p.Gly186Val) c.*169G>T (n.*169G>T) n.436G>T c.197G>T (p.Gly66Val) c.560G>T (p.Gly187Val) | |
| X | g.80025702A>C | CA517402948 | TBX22 | c.558A>C (p.Gly186=) c.*170A>C (n.*170A>C) n.437A>C c.198A>C (p.Gly66=) c.561A>C (p.Gly187=) | |
| X | g.80025702A>G | CA517402949 | TBX22 | c.558A>G (p.Gly186=) c.*170A>G (n.*170A>G) n.437A>G c.198A>G (p.Gly66=) c.561A>G (p.Gly187=) | |
| X | g.80025702A>T | CA517402950 | TBX22 | c.558A>T (p.Gly186=) c.*170A>T (n.*170A>T) n.437A>T c.198A>T (p.Gly66=) c.561A>T (p.Gly187=) | |
| X | g.80025703G>A | CA10461259 | TBX22 | c.559G>A (p.Glu187Lys) c.*171G>A (n.*171G>A) n.438G>A c.199G>A (p.Glu67Lys) c.562G>A (p.Glu188Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.80025703G>C | CA413740419 | TBX22 | c.559G>C (p.Glu187Gln) c.*171G>C (n.*171G>C) n.438G>C c.199G>C (p.Glu67Gln) c.562G>C (p.Glu188Gln) | |
| X | g.80025703G= | CA2439980367 | TBX22 | c.559G= (p.Glu187=) c.*171G= (n.*171G=) n.438G= c.199G= (p.Glu67=) c.562G= (p.Glu188=) | |
| X | g.80025703G>T | CA413740420 | TBX22 | c.559G>T (p.Glu187Ter) c.*171G>T (n.*171G>T) n.438G>T c.199G>T (p.Glu67Ter) c.562G>T (p.Glu188Ter) | |
| X | g.80025704A>C | CA413740421 | TBX22 | c.560A>C (p.Glu187Ala) c.*172A>C (n.*172A>C) n.439A>C c.200A>C (p.Glu67Ala) c.563A>C (p.Glu188Ala) | |
| X | g.80025704A>G | CA413740423 | TBX22 | c.560A>G (p.Glu187Gly) c.*172A>G (n.*172A>G) n.439A>G c.200A>G (p.Glu67Gly) c.563A>G (p.Glu188Gly) | |
| X | g.80025704A>T | CA413740422 | TBX22 | c.560A>T (p.Glu187Val) c.*172A>T (n.*172A>T) n.439A>T c.200A>T (p.Glu67Val) c.563A>T (p.Glu188Val) | |
| X | g.80025705G>A | CA517402951 | TBX22 | c.561G>A (p.Glu187=) c.*173G>A (n.*173G>A) n.440G>A c.201G>A (p.Glu67=) c.564G>A (p.Glu188=) | |
| X | g.80025705G>C | CA413740424 | TBX22 | c.561G>C (p.Glu187Asp) c.*173G>C (n.*173G>C) n.440G>C c.201G>C (p.Glu67Asp) c.564G>C (p.Glu188Asp) | gnomAD v4 |
| X | g.80025705G>T | CA413740425 | TBX22 | c.561G>T (p.Glu187Asp) c.*173G>T (n.*173G>T) n.440G>T c.201G>T (p.Glu67Asp) c.564G>T (p.Glu188Asp) | |
| X | g.80025706A= | CA2439980368 | TBX22 | c.562A= (p.Thr188=) c.*174A= (n.*174A=) n.441A= c.202A= (p.Thr68=) c.565A= (p.Thr189=) | |
| X | g.80025706A>C | CA413740426 | TBX22 | c.562A>C (p.Thr188Pro) c.*174A>C (n.*174A>C) n.441A>C c.202A>C (p.Thr68Pro) c.565A>C (p.Thr189Pro) | |
| X | g.80025706A>G | CA413740427 | TBX22 | c.562A>G (p.Thr188Ala) c.*174A>G (n.*174A>G) n.441A>G c.202A>G (p.Thr68Ala) c.565A>G (p.Thr189Ala) | |
| X | g.80025706A>T | CA413740428 | TBX22 | c.562A>T (p.Thr188Ser) c.*174A>T (n.*174A>T) n.441A>T c.202A>T (p.Thr68Ser) c.565A>T (p.Thr189Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.80025707C>A | CA413740429 | TBX22 | c.563C>A (p.Thr188Asn) c.*175C>A (n.*175C>A) n.442C>A c.203C>A (p.Thr68Asn) c.566C>A (p.Thr189Asn) | |
| X | g.80025707C>G | CA413740430 | TBX22 | c.563C>G (p.Thr188Ser) c.*175C>G (n.*175C>G) n.442C>G c.203C>G (p.Thr68Ser) c.566C>G (p.Thr189Ser) | |
| X | g.80025707C>T | CA413740431 | TBX22 | c.563C>T (p.Thr188Ile) c.*175C>T (n.*175C>T) n.442C>T c.203C>T (p.Thr68Ile) c.566C>T (p.Thr189Ile) | |
| X | g.80025708C>A | CA517402952 | TBX22 | c.564C>A (p.Thr188=) c.*176C>A (n.*176C>A) n.443C>A c.204C>A (p.Thr68=) c.567C>A (p.Thr189=) | COSMIC |
| X | g.80025708C>G | CA517402953 | TBX22 | c.564C>G (p.Thr188=) c.*176C>G (n.*176C>G) n.443C>G c.204C>G (p.Thr68=) c.567C>G (p.Thr189=) | |
| X | g.80025708C>T | CA517402954 | TBX22 | c.564C>T (p.Thr188=) c.*176C>T (n.*176C>T) n.443C>T c.204C>T (p.Thr68=) c.567C>T (p.Thr189=) | |
| X | g.80025709T>A | CA413740432 | TBX22 | c.565T>A (p.Trp189Arg) c.*177T>A (n.*177T>A) n.444T>A c.205T>A (p.Trp69Arg) c.568T>A (p.Trp190Arg) | |
| X | g.80025709T>C | CA413740433 | TBX22 | c.565T>C (p.Trp189Arg) c.*177T>C (n.*177T>C) n.444T>C c.205T>C (p.Trp69Arg) c.568T>C (p.Trp190Arg) | |
| X | g.80025709T>G | CA413740434 | TBX22 | c.565T>G (p.Trp189Gly) c.*177T>G (n.*177T>G) n.444T>G c.205T>G (p.Trp69Gly) c.568T>G (p.Trp190Gly) | |
| X | g.80025710G>A | CA413740436 | TBX22 | c.566G>A (p.Trp189Ter) c.*178G>A (n.*178G>A) n.445G>A c.206G>A (p.Trp69Ter) c.569G>A (p.Trp190Ter) | |
| X | g.80025710G>C | CA413740437 | TBX22 | c.566G>C (p.Trp189Ser) c.*178G>C (n.*178G>C) n.445G>C c.206G>C (p.Trp69Ser) c.569G>C (p.Trp190Ser) | |
| X | g.80025710G>T | CA413740435 | TBX22 | c.566G>T (p.Trp189Leu) c.*178G>T (n.*178G>T) n.445G>T c.206G>T (p.Trp69Leu) c.569G>T (p.Trp190Leu) | |
| X | g.80025711G>A | CA413740440 | TBX22 | c.567G>A (p.Trp189Ter) c.*179G>A (n.*179G>A) n.446G>A c.207G>A (p.Trp69Ter) c.570G>A (p.Trp190Ter) | |
| X | g.80025711G>C | CA413740438 | TBX22 | c.567G>C (p.Trp189Cys) c.*179G>C (n.*179G>C) n.446G>C c.207G>C (p.Trp69Cys) c.570G>C (p.Trp190Cys) | |
| X | g.80025711G>T | CA413740439 | TBX22 | c.567G>T (p.Trp189Cys) c.*179G>T (n.*179G>T) n.446G>T c.207G>T (p.Trp69Cys) c.570G>T (p.Trp190Cys) |