Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.33438842C>A | CA408633291 | SNTA1 | c.495G>T (p.Glu165Asp) n.728G>T c.168G>T (p.Glu56Asp) | |
20 | g.33438842C>G | CA408633292 | SNTA1 | c.495G>C (p.Glu165Asp) n.728G>C c.168G>C (p.Glu56Asp) | |
20 | g.33438842C>T | CA510252140 | SNTA1 | c.495G>A (p.Glu165=) n.728G>A c.168G>A (p.Glu56=) | gnomAD v4 |
20 | g.33438843T>A | CA408633295 | SNTA1 | c.494A>T (p.Glu165Val) n.727A>T c.167A>T (p.Glu56Val) | |
20 | g.33438843T>C | CA408633294 | SNTA1 | c.494A>G (p.Glu165Gly) n.727A>G c.167A>G (p.Glu56Gly) | |
20 | g.33438843T>G | CA408633293 | SNTA1 | c.494A>C (p.Glu165Ala) n.727A>C c.167A>C (p.Glu56Ala) | |
20 | g.33438844C>A | CA408633296 | SNTA1 | c.493G>T (p.Glu165Ter) n.726G>T c.166G>T (p.Glu56Ter) | |
20 | g.33438844C>G | CA408633297 | SNTA1 | c.493G>C (p.Glu165Gln) n.726G>C c.166G>C (p.Glu56Gln) | |
20 | g.33438844C>T | CA408633298 | SNTA1 | c.493G>A (p.Glu165Lys) n.726G>A c.166G>A (p.Glu56Lys) | |
20 | g.33438847_33438945del | CA2652478039 | SNTA1 | c.395_493del (p.Gly132_Leu164del) n.628_726del c.68_166del (p.Gly23_Leu55del) | gnomAD v4 |
20 | g.33438845C>A | CA510252144 | SNTA1 | c.492G>T (p.Leu164=) n.725G>T c.165G>T (p.Leu55=) | |
20 | g.33438845C= | CA2360753059 | SNTA1 | c.492G= (p.Leu164=) n.725G= c.165G= (p.Leu55=) | |
20 | g.33438845C>G | CA510252146 | SNTA1 | c.492G>C (p.Leu164=) n.725G>C c.165G>C (p.Leu55=) | |
20 | g.33438845C>T | CA313275601 | SNTA1 | c.492G>A (p.Leu164=) n.725G>A c.165G>A (p.Leu55=) | dbSNP gnomAD v4 |
20 | g.33438846A>C | CA408633299 | SNTA1 | c.491T>G (p.Leu164Arg) n.724T>G c.164T>G (p.Leu55Arg) | |
20 | g.33438846A>G | CA408633300 | SNTA1 | c.491T>C (p.Leu164Pro) n.724T>C c.164T>C (p.Leu55Pro) | |
20 | g.33438846A>T | CA408633301 | SNTA1 | c.491T>A (p.Leu164Gln) n.724T>A c.164T>A (p.Leu55Gln) | |
20 | g.33438847G>A | CA510252147 | SNTA1 | c.490C>T (p.Leu164=) n.723C>T c.163C>T (p.Leu55=) | |
20 | g.33438847G>C | CA408633302 | SNTA1 | c.490C>G (p.Leu164Val) n.723C>G c.163C>G (p.Leu55Val) | |
20 | g.33438847G>T | CA408633303 | SNTA1 | c.490C>A (p.Leu164Met) n.723C>A c.163C>A (p.Leu55Met) | |
20 | g.33438848C>A | CA510252148 | SNTA1 | c.489G>T (p.Val163=) n.722G>T c.162G>T (p.Val54=) | |
20 | g.33438848C>G | CA510252149 | SNTA1 | c.489G>C (p.Val163=) n.722G>C c.162G>C (p.Val54=) | |
20 | g.33438848C>T | CA510252150 | SNTA1 | c.489G>A (p.Val163=) n.722G>A c.162G>A (p.Val54=) | gnomAD v4 |
20 | g.33438849A>C | CA408633304 | SNTA1 | c.488T>G (p.Val163Gly) n.721T>G c.161T>G (p.Val54Gly) | |
20 | g.33438849A>G | CA408633305 | SNTA1 | c.488T>C (p.Val163Ala) n.721T>C c.161T>C (p.Val54Ala) | |
20 | g.33438849A>T | CA408633306 | SNTA1 | c.488T>A (p.Val163Glu) n.721T>A c.161T>A (p.Val54Glu) | |
20 | g.33438850C>A | CA408633308 | SNTA1 | c.487G>T (p.Val163Leu) n.720G>T c.160G>T (p.Val54Leu) | |
20 | g.33438850C>G | CA408633309 | SNTA1 | c.487G>C (p.Val163Leu) n.720G>C c.160G>C (p.Val54Leu) | |
20 | g.33438850C>T | CA408633307 | SNTA1 | c.487G>A (p.Val163Met) n.720G>A c.160G>A (p.Val54Met) | |
20 | g.33438851C>A | CA510252152 | SNTA1 | c.486G>T (p.Val162=) n.719G>T c.159G>T (p.Val53=) | |
20 | g.33438851C>G | CA510252153 | SNTA1 | c.486G>C (p.Val162=) n.719G>C c.159G>C (p.Val53=) | |
20 | g.33438851C>T | CA510252154 | SNTA1 | c.486G>A (p.Val162=) n.719G>A c.159G>A (p.Val53=) | |
20 | g.33438852A= | CA2360753060 | SNTA1 | c.485T= (p.Val162=) n.718T= c.158T= (p.Val53=) | |
20 | g.33438852A>C | CA408633310 | SNTA1 | c.485T>G (p.Val162Gly) n.718T>G c.158T>G (p.Val53Gly) | dbSNP |
20 | g.33438852A>G | CA408633311 | SNTA1 | c.485T>C (p.Val162Ala) n.718T>C c.158T>C (p.Val53Ala) | |
20 | g.33438852A>T | CA408633312 | SNTA1 | c.485T>A (p.Val162Glu) n.718T>A c.158T>A (p.Val53Glu) | |
20 | g.33438853C>A | CA408633313 | SNTA1 | c.484G>T (p.Val162Leu) n.717G>T c.157G>T (p.Val53Leu) | gnomAD v4 |
20 | g.33438853C= | CA2360753061 | SNTA1 | c.484G= (p.Val162=) n.717G= c.157G= (p.Val53=) | |
20 | g.33438853C>G | CA408633314 | SNTA1 | c.484G>C (p.Val162Leu) n.717G>C c.157G>C (p.Val53Leu) | |
20 | g.33438853C>T | CA408633315 | SNTA1 | c.484G>A (p.Val162Met) n.717G>A c.157G>A (p.Val53Met) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33438854C>A | CA408633316 | SNTA1 | c.483G>T (p.Glu161Asp) n.716G>T c.156G>T (p.Glu52Asp) | gnomAD v4 |
20 | g.33438854C>G | CA408633317 | SNTA1 | c.483G>C (p.Glu161Asp) n.716G>C c.156G>C (p.Glu52Asp) | |
20 | g.33438854C>T | CA510252156 | SNTA1 | c.483G>A (p.Glu161=) n.716G>A c.156G>A (p.Glu52=) | gnomAD v4 |
20 | g.33438855T>A | CA408633318 | SNTA1 | c.482A>T (p.Glu161Val) n.715A>T c.155A>T (p.Glu52Val) | |
20 | g.33438855T>C | CA408633319 | SNTA1 | c.482A>G (p.Glu161Gly) n.715A>G c.155A>G (p.Glu52Gly) | |
20 | g.33438855T>G | CA408633320 | SNTA1 | c.482A>C (p.Glu161Ala) n.715A>C c.155A>C (p.Glu52Ala) | |
20 | g.33438856C>A | CA408633321 | SNTA1 | c.481G>T (p.Glu161Ter) n.714G>T c.154G>T (p.Glu52Ter) | |
20 | g.33438856C>G | CA408633322 | SNTA1 | c.481G>C (p.Glu161Gln) n.714G>C c.154G>C (p.Glu52Gln) | |
20 | g.33438856C>T | CA408633323 | SNTA1 | c.481G>A (p.Glu161Lys) n.714G>A c.154G>A (p.Glu52Lys) | |
20 | g.33438857C>A | CA408633324 | SNTA1 | c.480G>T (p.Lys160Asn) n.713G>T c.153G>T (p.Lys51Asn) | |
20 | g.33438857C= | CA2360753062 | SNTA1 | c.480G= (p.Lys160=) n.713G= c.153G= (p.Lys51=) | |
20 | g.33438857C>G | CA408633325 | SNTA1 | c.480G>C (p.Lys160Asn) n.713G>C c.153G>C (p.Lys51Asn) | |
20 | g.33438857C>T | CA510252160 | SNTA1 | c.480G>A (p.Lys160=) n.713G>A c.153G>A (p.Lys51=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33438858T>A | CA408633326 | SNTA1 | c.479A>T (p.Lys160Met) n.712A>T c.152A>T (p.Lys51Met) | |
20 | g.33438858T>C | CA408633327 | SNTA1 | c.479A>G (p.Lys160Arg) n.712A>G c.152A>G (p.Lys51Arg) | |
20 | g.33438858T>G | CA408633328 | SNTA1 | c.479A>C (p.Lys160Thr) n.712A>C c.152A>C (p.Lys51Thr) | |
20 | g.33438859T>A | CA408633329 | SNTA1 | c.478A>T (p.Lys160Ter) n.711A>T c.151A>T (p.Lys51Ter) | |
20 | g.33438859T>C | CA313275606 | SNTA1 | c.478A>G (p.Lys160Glu) n.711A>G c.151A>G (p.Lys51Glu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.33438859T>G | CA408633330 | SNTA1 | c.478A>C (p.Lys160Gln) n.711A>C c.151A>C (p.Lys51Gln) | |
20 | g.33438859T= | CA2360753063 | SNTA1 | c.478A= (p.Lys160=) n.711A= c.151A= (p.Lys51=) | |
20 | g.33438860G>A | CA510252163 | SNTA1 | c.477C>T (p.Gly159=) n.710C>T c.150C>T (p.Gly50=) | |
20 | g.33438860G>C | CA510252164 | SNTA1 | c.477C>G (p.Gly159=) n.710C>G c.150C>G (p.Gly50=) | |
20 | g.33438860G= | CA2360753064 | SNTA1 | c.477C= (p.Gly159=) n.710C= c.150C= (p.Gly50=) | |
20 | g.33438860G>T | CA510252165 | SNTA1 | c.477C>A (p.Gly159=) n.710C>A c.150C>A (p.Gly50=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33438861C>A | CA408633331 | SNTA1 | c.476G>T (p.Gly159Val) n.709G>T c.149G>T (p.Gly50Val) | dbSNP gnomAD v2 |
20 | g.33438861C= | CA2360753065 | SNTA1 | c.476G= (p.Gly159=) n.709G= c.149G= (p.Gly50=) | |
20 | g.33438861C>G | CA408633332 | SNTA1 | c.476G>C (p.Gly159Ala) n.709G>C c.149G>C (p.Gly50Ala) | gnomAD v4 |
20 | g.33438861C>T | CA408633333 | SNTA1 | c.476G>A (p.Gly159Asp) n.709G>A c.149G>A (p.Gly50Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.33438862C>A | CA408633334 | SNTA1 | c.475G>T (p.Gly159Cys) n.708G>T c.148G>T (p.Gly50Cys) | |
20 | g.33438862C>G | CA408633335 | SNTA1 | c.475G>C (p.Gly159Arg) n.708G>C c.148G>C (p.Gly50Arg) | |
20 | g.33438862C>T | CA408633336 | SNTA1 | c.475G>A (p.Gly159Ser) n.708G>A c.148G>A (p.Gly50Ser) | |
20 | g.33438863T>A | CA510252168 | SNTA1 | c.474A>T (p.Thr158=) n.707A>T c.147A>T (p.Thr49=) | |
20 | g.33438863T>C | CA510252169 | SNTA1 | c.474A>G (p.Thr158=) n.707A>G c.147A>G (p.Thr49=) | |
20 | g.33438863T>G | CA510252170 | SNTA1 | c.474A>C (p.Thr158=) n.707A>C c.147A>C (p.Thr49=) | gnomAD v4 |
20 | g.33438864G>A | CA313275610 | SNTA1 | c.473C>T (p.Thr158Ile) n.706C>T c.146C>T (p.Thr49Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438864G>C | CA408633338 | SNTA1 | c.473C>G (p.Thr158Arg) n.706C>G c.146C>G (p.Thr49Arg) | |
20 | g.33438864G= | CA2360753066 | SNTA1 | c.473C= (p.Thr158=) n.706C= c.146C= (p.Thr49=) | |
20 | g.33438864G>T | CA408633337 | SNTA1 | c.473C>A (p.Thr158Lys) n.706C>A c.146C>A (p.Thr49Lys) | |
20 | g.33438865T>A | CA408633339 | SNTA1 | c.472A>T (p.Thr158Ser) n.705A>T c.145A>T (p.Thr49Ser) | |
20 | g.33438865T>C | CA408633341 | SNTA1 | c.472A>G (p.Thr158Ala) n.705A>G c.145A>G (p.Thr49Ala) | |
20 | g.33438865T>G | CA408633340 | SNTA1 | c.472A>C (p.Thr158Pro) n.705A>C c.145A>C (p.Thr49Pro) | |
20 | g.33438866C>A | CA408633342 | SNTA1 | c.471G>T (p.Lys157Asn) n.704G>T c.144G>T (p.Lys48Asn) | |
20 | g.33438866C>G | CA408633343 | SNTA1 | c.471G>C (p.Lys157Asn) n.704G>C c.144G>C (p.Lys48Asn) | |
20 | g.33438866C>T | CA510252172 | SNTA1 | c.471G>A (p.Lys157=) n.704G>A c.144G>A (p.Lys48=) | |
20 | g.33438867T>A | CA9817223 | SNTA1 | c.470A>T (p.Lys157Met) n.703A>T c.143A>T (p.Lys48Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33438867T>C | CA408633344 | SNTA1 | c.470A>G (p.Lys157Arg) n.703A>G c.143A>G (p.Lys48Arg) | |
20 | g.33438867T>G | CA408633345 | SNTA1 | c.470A>C (p.Lys157Thr) n.703A>C c.143A>C (p.Lys48Thr) | |
20 | g.33438867T= | CA2360753067 | SNTA1 | c.470A= (p.Lys157=) n.703A= c.143A= (p.Lys48=) | |
20 | g.33438868T>A | CA408633346 | SNTA1 | c.469A>T (p.Lys157Ter) n.702A>T c.142A>T (p.Lys48Ter) | |
20 | g.33438868T>C | CA408633347 | SNTA1 | c.469A>G (p.Lys157Glu) n.702A>G c.142A>G (p.Lys48Glu) | dbSNP gnomAD v4 |
20 | g.33438868T>G | CA408633348 | SNTA1 | c.469A>C (p.Lys157Gln) n.702A>C c.142A>C (p.Lys48Gln) | |
20 | g.33438868T= | CA2360753068 | SNTA1 | c.469A= (p.Lys157=) n.702A= c.142A= (p.Lys48=) | |
20 | g.33438869C>A | CA408633349 | SNTA1 | c.468G>T (p.Lys156Asn) n.701G>T c.141G>T (p.Lys47Asn) | |
20 | g.33438869C>G | CA408633350 | SNTA1 | c.468G>C (p.Lys156Asn) n.701G>C c.141G>C (p.Lys47Asn) | |
20 | g.33438869C>T | CA510252175 | SNTA1 | c.468G>A (p.Lys156=) n.701G>A c.141G>A (p.Lys47=) | |
20 | g.33438870T>A | CA408633351 | SNTA1 | c.467A>T (p.Lys156Met) n.700A>T c.140A>T (p.Lys47Met) | |
20 | g.33438870T>C | CA9817224 | SNTA1 | c.467A>G (p.Lys156Arg) n.700A>G c.140A>G (p.Lys47Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438870T>G | CA408633352 | SNTA1 | c.467A>C (p.Lys156Thr) n.700A>C c.140A>C (p.Lys47Thr) | |
20 | g.33438870T= | CA2360753069 | SNTA1 | c.467A= (p.Lys156=) n.700A= c.140A= (p.Lys47=) | |
20 | g.33438871T>A | CA408633355 | SNTA1 | c.466A>T (p.Lys156Ter) n.699A>T c.139A>T (p.Lys47Ter) | |
20 | g.33438871T>C | CA408633353 | SNTA1 | c.466A>G (p.Lys156Glu) n.699A>G c.139A>G (p.Lys47Glu) | |
20 | g.33438871T>G | CA408633354 | SNTA1 | c.466A>C (p.Lys156Gln) n.699A>C c.139A>C (p.Lys47Gln) | |
20 | g.33438872G>A | CA510252178 | SNTA1 | c.465C>T (p.Leu155=) n.698C>T c.138C>T (p.Leu46=) | |
20 | g.33438872G>C | CA510252179 | SNTA1 | c.465C>G (p.Leu155=) n.698C>G c.138C>G (p.Leu46=) | |
20 | g.33438872G>T | CA510252180 | SNTA1 | c.465C>A (p.Leu155=) n.698C>A c.138C>A (p.Leu46=) | |
20 | g.33438873A>C | CA408633356 | SNTA1 | c.464T>G (p.Leu155Arg) n.697T>G c.137T>G (p.Leu46Arg) | |
20 | g.33438873A>G | CA408633357 | SNTA1 | c.464T>C (p.Leu155Pro) n.697T>C c.137T>C (p.Leu46Pro) | |
20 | g.33438873A>T | CA408633358 | SNTA1 | c.464T>A (p.Leu155His) n.697T>A c.137T>A (p.Leu46His) | gnomAD v4 COSMIC |
20 | g.33438874G>A | CA408633359 | SNTA1 | c.463C>T (p.Leu155Phe) n.696C>T c.136C>T (p.Leu46Phe) | |
20 | g.33438874G>C | CA408633360 | SNTA1 | c.463C>G (p.Leu155Val) n.696C>G c.136C>G (p.Leu46Val) | |
20 | g.33438874G>T | CA408633361 | SNTA1 | c.463C>A (p.Leu155Ile) n.696C>A c.136C>A (p.Leu46Ile) | |
20 | g.33438875G>A | CA510252184 | SNTA1 | c.462C>T (p.Val154=) n.695C>T c.135C>T (p.Val45=) | |
20 | g.33438875G>C | CA510252185 | SNTA1 | c.462C>G (p.Val154=) n.695C>G c.135C>G (p.Val45=) | |
20 | g.33438875G>T | CA510252183 | SNTA1 | c.462C>A (p.Val154=) n.695C>A c.135C>A (p.Val45=) | |
20 | g.33438876A= | CA2360753070 | SNTA1 | c.461T= (p.Val154=) n.694T= c.134T= (p.Val45=) | |
20 | g.33438876A>C | CA408633362 | SNTA1 | c.461T>G (p.Val154Gly) n.694T>G c.134T>G (p.Val45Gly) | dbSNP |
20 | g.33438876A>G | CA408633363 | SNTA1 | c.461T>C (p.Val154Ala) n.694T>C c.134T>C (p.Val45Ala) | |
20 | g.33438876A>T | CA408633364 | SNTA1 | c.461T>A (p.Val154Asp) n.694T>A c.134T>A (p.Val45Asp) | |
20 | g.33438877C>A | CA408633365 | SNTA1 | c.460G>T (p.Val154Phe) n.693G>T c.133G>T (p.Val45Phe) | gnomAD v4 |
20 | g.33438877C= | CA2360753071 | SNTA1 | c.460G= (p.Val154=) n.693G= c.133G= (p.Val45=) | |
20 | g.33438877C>G | CA408633366 | SNTA1 | c.460G>C (p.Val154Leu) n.693G>C c.133G>C (p.Val45Leu) | |
20 | g.33438877C>T | CA236846 | SNTA1 | c.460G>A (p.Val154Ile) n.693G>A c.133G>A (p.Val45Ile) | ClinVar dbSNP gnomAD v4 |
20 | g.33438878C>A | CA408633367 | SNTA1 | c.459G>T (p.Gln153His) n.692G>T c.132G>T (p.Gln44His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.33438878C= | CA2360753072 | SNTA1 | c.459G= (p.Gln153=) n.692G= c.132G= (p.Gln44=) | |
20 | g.33438878C>G | CA408633368 | SNTA1 | c.459G>C (p.Gln153His) n.692G>C c.132G>C (p.Gln44His) | |
20 | g.33438878C>T | CA510252187 | SNTA1 | c.459G>A (p.Gln153=) n.692G>A c.132G>A (p.Gln44=) | dbSNP |
20 | g.33438879T>A | CA408633369 | SNTA1 | c.458A>T (p.Gln153Leu) n.691A>T c.131A>T (p.Gln44Leu) | |
20 | g.33438879T>C | CA408633370 | SNTA1 | c.458A>G (p.Gln153Arg) n.691A>G c.131A>G (p.Gln44Arg) | |
20 | g.33438879T>G | CA408633371 | SNTA1 | c.458A>C (p.Gln153Pro) n.691A>C c.131A>C (p.Gln44Pro) | dbSNP |
20 | g.33438879T= | CA2360753073 | SNTA1 | c.458A= (p.Gln153=) n.691A= c.131A= (p.Gln44=) | |
20 | g.33438880G>A | CA408633372 | SNTA1 | c.457C>T (p.Gln153Ter) n.690C>T c.130C>T (p.Gln44Ter) | |
20 | g.33438880G>C | CA408633373 | SNTA1 | c.457C>G (p.Gln153Glu) n.690C>G c.130C>G (p.Gln44Glu) | |
20 | g.33438880G>T | CA408633374 | SNTA1 | c.457C>A (p.Gln153Lys) n.690C>A c.130C>A (p.Gln44Lys) | |
20 | g.33438881C>A | CA510252188 | SNTA1 | c.456G>T (p.Val152=) n.689G>T c.129G>T (p.Val43=) | |
20 | g.33438881C= | CA2360753074 | SNTA1 | c.456G= (p.Val152=) n.689G= c.129G= (p.Val43=) | |
20 | g.33438881C>G | CA510252190 | SNTA1 | c.456G>C (p.Val152=) n.689G>C c.129G>C (p.Val43=) | |
20 | g.33438881C>T | CA510252189 | SNTA1 | c.456G>A (p.Val152=) n.689G>A c.129G>A (p.Val43=) | ClinVar dbSNP gnomAD v4 |
20 | g.33438882A= | CA2360753075 | SNTA1 | c.455T= (p.Val152=) n.688T= c.128T= (p.Val43=) | |
20 | g.33438882A>C | CA408633377 | SNTA1 | c.455T>G (p.Val152Gly) n.688T>G c.128T>G (p.Val43Gly) | dbSNP |
20 | g.33438882A>G | CA408633376 | SNTA1 | c.455T>C (p.Val152Ala) n.688T>C c.128T>C (p.Val43Ala) | |
20 | g.33438882A>T | CA408633375 | SNTA1 | c.455T>A (p.Val152Glu) n.688T>A c.128T>A (p.Val43Glu) | |
20 | g.33438883C>A | CA408633378 | SNTA1 | c.454G>T (p.Val152Leu) n.687G>T c.127G>T (p.Val43Leu) | |
20 | g.33438883C>G | CA408633379 | SNTA1 | c.454G>C (p.Val152Leu) n.687G>C c.127G>C (p.Val43Leu) | |
20 | g.33438883C>T | CA408633380 | SNTA1 | c.454G>A (p.Val152Met) n.687G>A c.127G>A (p.Val43Met) | ClinVar |
20 | g.33438884C>A | CA510252191 | SNTA1 | c.453G>T (p.Ala151=) n.686G>T c.126G>T (p.Ala42=) | |
20 | g.33438884C= | CA2360753076 | SNTA1 | c.453G= (p.Ala151=) n.686G= c.126G= (p.Ala42=) | |
20 | g.33438884C>G | CA510252192 | SNTA1 | c.453G>C (p.Ala151=) n.686G>C c.126G>C (p.Ala42=) | |
20 | g.33438884C>T | CA313275623 | SNTA1 | c.453G>A (p.Ala151=) n.686G>A c.126G>A (p.Ala42=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438885G>A | CA354880 | SNTA1 | c.452C>T (p.Ala151Val) n.685C>T c.125C>T (p.Ala42Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438885G>C | CA408633381 | SNTA1 | c.452C>G (p.Ala151Gly) n.685C>G c.125C>G (p.Ala42Gly) | |
20 | g.33438885G= | CA2360753077 | SNTA1 | c.452C= (p.Ala151=) n.685C= c.125C= (p.Ala42=) | |
20 | g.33438885G>T | CA408633382 | SNTA1 | c.452C>A (p.Ala151Glu) n.685C>A c.125C>A (p.Ala42Glu) | |
20 | g.33438886C>A | CA408633383 | SNTA1 | c.451G>T (p.Ala151Ser) n.684G>T c.124G>T (p.Ala42Ser) | |
20 | g.33438886C>G | CA408633385 | SNTA1 | c.451G>C (p.Ala151Pro) n.684G>C c.124G>C (p.Ala42Pro) | |
20 | g.33438886C>T | CA408633384 | SNTA1 | c.451G>A (p.Ala151Thr) n.684G>A c.124G>A (p.Ala42Thr) | |
20 | g.33438887C>A | CA408633386 | SNTA1 | c.450G>T (p.Glu150Asp) n.683G>T c.123G>T (p.Glu41Asp) | |
20 | g.33438887C= | CA2360753078 | SNTA1 | c.450G= (p.Glu150=) n.683G= c.123G= (p.Glu41=) | |
20 | g.33438887C>G | CA408633387 | SNTA1 | c.450G>C (p.Glu150Asp) n.683G>C c.123G>C (p.Glu41Asp) | |
20 | g.33438887C>T | CA510252193 | SNTA1 | c.450G>A (p.Glu150=) n.683G>A c.123G>A (p.Glu41=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33438888T>A | CA408633388 | SNTA1 | c.449A>T (p.Glu150Val) n.682A>T c.122A>T (p.Glu41Val) | |
20 | g.33438888T>C | CA408633389 | SNTA1 | c.449A>G (p.Glu150Gly) n.682A>G c.122A>G (p.Glu41Gly) | |
20 | g.33438888T>G | CA408633390 | SNTA1 | c.449A>C (p.Glu150Ala) n.682A>C c.122A>C (p.Glu41Ala) | |
20 | g.33438889C>A | CA408633391 | SNTA1 | c.448G>T (p.Glu150Ter) n.681G>T c.121G>T (p.Glu41Ter) | |
20 | g.33438889C>G | CA408633392 | SNTA1 | c.448G>C (p.Glu150Gln) n.681G>C c.121G>C (p.Glu41Gln) | |
20 | g.33438889C>T | CA408633393 | SNTA1 | c.448G>A (p.Glu150Lys) n.681G>A c.121G>A (p.Glu41Lys) | gnomAD v4 |
20 | g.33438890A= | CA2360753079 | SNTA1 | c.447T= (p.Asp149=) n.680T= c.120T= (p.Asp40=) | |
20 | g.33438890A>C | CA408633394 | SNTA1 | c.447T>G (p.Asp149Glu) n.680T>G c.120T>G (p.Asp40Glu) | |
20 | g.33438890A>G | CA9817225 | SNTA1 | c.447T>C (p.Asp149=) n.680T>C c.120T>C (p.Asp40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438890A>T | CA408633395 | SNTA1 | c.447T>A (p.Asp149Glu) n.680T>A c.120T>A (p.Asp40Glu) | |
20 | g.33438891T>A | CA408633396 | SNTA1 | c.446A>T (p.Asp149Val) n.679A>T c.119A>T (p.Asp40Val) | |
20 | g.33438891T>C | CA408633398 | SNTA1 | c.446A>G (p.Asp149Gly) n.679A>G c.119A>G (p.Asp40Gly) | gnomAD v4 |
20 | g.33438891T>G | CA408633397 | SNTA1 | c.446A>C (p.Asp149Ala) n.679A>C c.119A>C (p.Asp40Ala) | |
20 | g.33438892C>A | CA408633399 | SNTA1 | c.445G>T (p.Asp149Tyr) n.678G>T c.118G>T (p.Asp40Tyr) | |
20 | g.33438892C>G | CA408633401 | SNTA1 | c.445G>C (p.Asp149His) n.678G>C c.118G>C (p.Asp40His) | |
20 | g.33438892C>T | CA408633400 | SNTA1 | c.445G>A (p.Asp149Asn) n.678G>A c.118G>A (p.Asp40Asn) | gnomAD v4 |
20 | g.33438893A>C | CA408633402 | SNTA1 | c.444T>G (p.His148Gln) n.677T>G c.117T>G (p.His39Gln) | |
20 | g.33438893A>G | CA510252194 | SNTA1 | c.444T>C (p.His148=) n.677T>C c.117T>C (p.His39=) | |
20 | g.33438893A>T | CA408633403 | SNTA1 | c.444T>A (p.His148Gln) n.677T>A c.117T>A (p.His39Gln) | |
20 | g.33438894T>A | CA408633404 | SNTA1 | c.443A>T (p.His148Leu) n.676A>T c.116A>T (p.His39Leu) | |
20 | g.33438894T>C | CA408633405 | SNTA1 | c.443A>G (p.His148Arg) n.676A>G c.116A>G (p.His39Arg) | gnomAD v4 |
20 | g.33438894T>G | CA408633406 | SNTA1 | c.443A>C (p.His148Pro) n.676A>C c.116A>C (p.His39Pro) | |
20 | g.33438895G>A | CA408633407 | SNTA1 | c.442C>T (p.His148Tyr) n.675C>T c.115C>T (p.His39Tyr) | |
20 | g.33438895G>C | CA408633408 | SNTA1 | c.442C>G (p.His148Asp) n.675C>G c.115C>G (p.His39Asp) | |
20 | g.33438895G>T | CA408633409 | SNTA1 | c.442C>A (p.His148Asn) n.675C>A c.115C>A (p.His39Asn) | |
20 | g.33438896G>A | CA510252195 | SNTA1 | c.441C>T (p.Thr147=) n.674C>T c.114C>T (p.Thr38=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.33438896G>C | CA510252197 | SNTA1 | c.441C>G (p.Thr147=) n.674C>G c.114C>G (p.Thr38=) | |
20 | g.33438896G= | CA2360753080 | SNTA1 | c.441C= (p.Thr147=) n.674C= c.114C= (p.Thr38=) | |
20 | g.33438896G>T | CA510252196 | SNTA1 | c.441C>A (p.Thr147=) n.674C>A c.114C>A (p.Thr38=) | |
20 | g.33438897G>A | CA9817226 | SNTA1 | c.440C>T (p.Thr147Ile) n.673C>T c.113C>T (p.Thr38Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438897G>C | CA408633410 | SNTA1 | c.440C>G (p.Thr147Ser) n.673C>G c.113C>G (p.Thr38Ser) | |
20 | g.33438897G= | CA2360753081 | SNTA1 | c.440C= (p.Thr147=) n.673C= c.113C= (p.Thr38=) | |
20 | g.33438897G>T | CA235722 | SNTA1 | c.440C>A (p.Thr147Asn) n.673C>A c.113C>A (p.Thr38Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438897_33438898delinsGT | CA2360753082 | SNTA1 | c.439_440delinsAC (p.Thr147=) n.672_673delinsAC c.112_113delinsAC (p.Thr38=) | |
20 | g.33438898del | CA743727207 | SNTA1 | c.439del (p.Thr147ProfsTer23) n.672del c.112del (p.Thr38ProfsTer23) | dbSNP |
20 | g.33438898T>A | CA408633413 | SNTA1 | c.439A>T (p.Thr147Ser) n.672A>T c.112A>T (p.Thr38Ser) | |
20 | g.33438898T>C | CA408633412 | SNTA1 | c.439A>G (p.Thr147Ala) n.672A>G c.112A>G (p.Thr38Ala) | |
20 | g.33438898T>G | CA408633411 | SNTA1 | c.439A>C (p.Thr147Pro) n.672A>C c.112A>C (p.Thr38Pro) | |
20 | g.33438899A>C | CA510252198 | SNTA1 | c.438T>G (p.Ala146=) n.671T>G c.111T>G (p.Ala37=) | |
20 | g.33438899A>G | CA510252200 | SNTA1 | c.438T>C (p.Ala146=) n.671T>C c.111T>C (p.Ala37=) | gnomAD v4 |
20 | g.33438899A>T | CA510252199 | SNTA1 | c.438T>A (p.Ala146=) n.671T>A c.111T>A (p.Ala37=) | |
20 | g.33438900G>A | CA408633414 | SNTA1 | c.437C>T (p.Ala146Val) n.670C>T c.110C>T (p.Ala37Val) | gnomAD v4 |
20 | g.33438900G>C | CA408633415 | SNTA1 | c.437C>G (p.Ala146Gly) n.670C>G c.110C>G (p.Ala37Gly) | |
20 | g.33438900G>T | CA408633416 | SNTA1 | c.437C>A (p.Ala146Asp) n.670C>A c.110C>A (p.Ala37Asp) | |
20 | g.33438901C>A | CA408633417 | SNTA1 | c.436G>T (p.Ala146Ser) n.669G>T c.109G>T (p.Ala37Ser) | |
20 | g.33438901C>G | CA408633418 | SNTA1 | c.436G>C (p.Ala146Pro) n.669G>C c.109G>C (p.Ala37Pro) | |
20 | g.33438901C>T | CA408633419 | SNTA1 | c.436G>A (p.Ala146Thr) n.669G>A c.109G>A (p.Ala37Thr) | |
20 | g.33438902A>C | CA510252203 | SNTA1 | c.435T>G (p.Ser145=) n.668T>G c.108T>G (p.Ser36=) | |
20 | g.33438902A>G | CA510252202 | SNTA1 | c.435T>C (p.Ser145=) n.668T>C c.108T>C (p.Ser36=) | |
20 | g.33438902A>T | CA510252201 | SNTA1 | c.435T>A (p.Ser145=) n.668T>A c.108T>A (p.Ser36=) | |
20 | g.33438903G>A | CA408633420 | SNTA1 | c.434C>T (p.Ser145Phe) n.667C>T c.107C>T (p.Ser36Phe) | |
20 | g.33438903G>C | CA408633421 | SNTA1 | c.434C>G (p.Ser145Cys) n.667C>G c.107C>G (p.Ser36Cys) | |
20 | g.33438903G>T | CA408633422 | SNTA1 | c.434C>A (p.Ser145Tyr) n.667C>A c.107C>A (p.Ser36Tyr) | |
20 | g.33438904A>C | CA408633423 | SNTA1 | c.433T>G (p.Ser145Ala) n.666T>G c.106T>G (p.Ser36Ala) | |
20 | g.33438904A>G | CA408633424 | SNTA1 | c.433T>C (p.Ser145Pro) n.666T>C c.106T>C (p.Ser36Pro) | |
20 | g.33438904A>T | CA408633425 | SNTA1 | c.433T>A (p.Ser145Thr) n.666T>A c.106T>A (p.Ser36Thr) | |
20 | g.33438905G>A | CA9817227 | SNTA1 | c.432C>T (p.Ser144=) n.665C>T c.105C>T (p.Ser35=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33438905G>C | CA510252205 | SNTA1 | c.432C>G (p.Ser144=) n.665C>G c.105C>G (p.Ser35=) | |
20 | g.33438905G= | CA2360753083 | SNTA1 | c.432C= (p.Ser144=) n.665C= c.105C= (p.Ser35=) | |
20 | g.33438905G>T | CA510252204 | SNTA1 | c.432C>A (p.Ser144=) n.665C>A c.105C>A (p.Ser35=) | |
20 | g.33438906G>A | CA9817228 | SNTA1 | c.431C>T (p.Ser144Phe) n.664C>T c.104C>T (p.Ser35Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33438906G>C | CA408633426 | SNTA1 | c.431C>G (p.Ser144Cys) n.664C>G c.104C>G (p.Ser35Cys) | |
20 | g.33438906G= | CA2360753084 | SNTA1 | c.431C= (p.Ser144=) n.664C= c.104C= (p.Ser35=) | |
20 | g.33438906G>T | CA408633427 | SNTA1 | c.431C>A (p.Ser144Tyr) n.664C>A c.104C>A (p.Ser35Tyr) | |
20 | g.33438907A= | CA2360753085 | SNTA1 | c.430T= (p.Ser144=) n.663T= c.103T= (p.Ser35=) | |
20 | g.33438907A>C | CA9817229 | SNTA1 | c.430T>G (p.Ser144Ala) n.663T>G c.103T>G (p.Ser35Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438907A>G | CA408633428 | SNTA1 | c.430T>C (p.Ser144Pro) n.663T>C c.103T>C (p.Ser35Pro) | |
20 | g.33438907A>T | CA408633429 | SNTA1 | c.430T>A (p.Ser144Thr) n.663T>A c.103T>A (p.Ser35Thr) | |
20 | g.33438908C>A | CA408633430 | SNTA1 | c.429G>T (p.Leu143Phe) n.662G>T c.102G>T (p.Leu34Phe) | |
20 | g.33438908C>G | CA408633431 | SNTA1 | c.429G>C (p.Leu143Phe) n.662G>C c.102G>C (p.Leu34Phe) | |
20 | g.33438908C>T | CA510252206 | SNTA1 | c.429G>A (p.Leu143=) n.662G>A c.102G>A (p.Leu34=) | |
20 | g.33438909A>C | CA408633432 | SNTA1 | c.428T>G (p.Leu143Trp) n.661T>G c.101T>G (p.Leu34Trp) | |
20 | g.33438909A>G | CA408633434 | SNTA1 | c.428T>C (p.Leu143Ser) n.661T>C c.101T>C (p.Leu34Ser) | |
20 | g.33438909A>T | CA408633433 | SNTA1 | c.428T>A (p.Leu143Ter) n.661T>A c.101T>A (p.Leu34Ter) | |
20 | g.33438910A>C | CA408633435 | SNTA1 | c.427T>G (p.Leu143Val) n.660T>G c.100T>G (p.Leu34Val) | |
20 | g.33438910A>G | CA510252207 | SNTA1 | c.427T>C (p.Leu143=) n.660T>C c.100T>C (p.Leu34=) | |
20 | g.33438910A>T | CA408633436 | SNTA1 | c.427T>A (p.Leu143Met) n.660T>A c.100T>A (p.Leu34Met) | |
20 | g.33438911G>A | CA510252208 | SNTA1 | c.426C>T (p.Asp142=) n.659C>T c.99C>T (p.Asp33=) | |
20 | g.33438911G>C | CA408633437 | SNTA1 | c.426C>G (p.Asp142Glu) n.659C>G c.99C>G (p.Asp33Glu) | |
20 | g.33438911G>T | CA408633438 | SNTA1 | c.426C>A (p.Asp142Glu) n.659C>A c.99C>A (p.Asp33Glu) | |
20 | g.33438912T>A | CA408633439 | SNTA1 | c.425A>T (p.Asp142Val) n.658A>T c.98A>T (p.Asp33Val) | |
20 | g.33438912T>C | CA9817230 | SNTA1 | c.425A>G (p.Asp142Gly) n.658A>G c.98A>G (p.Asp33Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33438912T>G | CA408633440 | SNTA1 | c.425A>C (p.Asp142Ala) n.658A>C c.98A>C (p.Asp33Ala) | |
20 | g.33438912T= | CA2360753086 | SNTA1 | c.425A= (p.Asp142=) n.658A= c.98A= (p.Asp33=) | |
20 | g.33438913C>A | CA408633441 | SNTA1 | c.424G>T (p.Asp142Tyr) n.657G>T c.97G>T (p.Asp33Tyr) | |
20 | g.33438913C= | CA2360753087 | SNTA1 | c.424G= (p.Asp142=) n.657G= c.97G= (p.Asp33=) | |
20 | g.33438913C>G | CA408633442 | SNTA1 | c.424G>C (p.Asp142His) n.657G>C c.97G>C (p.Asp33His) | |
20 | g.33438913C>T | CA408633443 | SNTA1 | c.424G>A (p.Asp142Asn) n.657G>A c.97G>A (p.Asp33Asn) | dbSNP |
20 | g.33438914T>A | CA408633444 | SNTA1 | c.423A>T (p.Glu141Asp) n.656A>T c.96A>T (p.Glu32Asp) | |
20 | g.33438914T>C | CA510252210 | SNTA1 | c.423A>G (p.Glu141=) n.656A>G c.96A>G (p.Glu32=) | |
20 | g.33438914T>G | CA408633445 | SNTA1 | c.423A>C (p.Glu141Asp) n.656A>C c.96A>C (p.Glu32Asp) | |
20 | g.33438915T>A | CA408633446 | SNTA1 | c.422A>T (p.Glu141Val) n.655A>T c.95A>T (p.Glu32Val) | |
20 | g.33438915T>C | CA408633447 | SNTA1 | c.422A>G (p.Glu141Gly) n.655A>G c.95A>G (p.Glu32Gly) | dbSNP |
20 | g.33438915T>G | CA408633448 | SNTA1 | c.422A>C (p.Glu141Ala) n.655A>C c.95A>C (p.Glu32Ala) | |
20 | g.33438915T= | CA2360753088 | SNTA1 | c.422A= (p.Glu141=) n.655A= c.95A= (p.Glu32=) | |
20 | g.33438916C>A | CA408633449 | SNTA1 | c.421G>T (p.Glu141Ter) n.654G>T c.94G>T (p.Glu32Ter) | |
20 | g.33438916C>G | CA408633450 | SNTA1 | c.421G>C (p.Glu141Gln) n.654G>C c.94G>C (p.Glu32Gln) | |
20 | g.33438916C>T | CA408633451 | SNTA1 | c.421G>A (p.Glu141Lys) n.654G>A c.94G>A (p.Glu32Lys) | |
20 | g.33438917C>A | CA510252211 | SNTA1 | c.420G>T (p.Gly140=) n.653G>T c.93G>T (p.Gly31=) | |
20 | g.33438917C>G | CA510252212 | SNTA1 | c.420G>C (p.Gly140=) n.653G>C c.93G>C (p.Gly31=) | COSMIC |
20 | g.33438917C>T | CA510252213 | SNTA1 | c.420G>A (p.Gly140=) n.653G>A c.93G>A (p.Gly31=) | |
20 | g.33438918C>A | CA408633452 | SNTA1 | c.419G>T (p.Gly140Val) n.652G>T c.92G>T (p.Gly31Val) | |
20 | g.33438918C= | CA2360753089 | SNTA1 | c.419G= (p.Gly140=) n.652G= c.92G= (p.Gly31=) | |
20 | g.33438918C>G | CA9817231 | SNTA1 | c.419G>C (p.Gly140Ala) n.652G>C c.92G>C (p.Gly31Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438918C>T | CA9817232 | SNTA1 | c.419G>A (p.Gly140Glu) n.652G>A c.92G>A (p.Gly31Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33438919C>A | CA408633455 | SNTA1 | c.418G>T (p.Gly140Trp) n.651G>T c.91G>T (p.Gly31Trp) | |
20 | g.33438919C= | CA2360753090 | SNTA1 | c.418G= (p.Gly140=) n.651G= c.91G= (p.Gly31=) | |
20 | g.33438919C>G | CA408633453 | SNTA1 | c.418G>C (p.Gly140Arg) n.651G>C c.91G>C (p.Gly31Arg) | |
20 | g.33438919C>T | CA408633454 | SNTA1 | c.418G>A (p.Gly140Arg) n.651G>A c.91G>A (p.Gly31Arg) | dbSNP |
20 | g.33438920A>C | CA408633456 | SNTA1 | c.417T>G (p.Asn139Lys) n.650T>G c.90T>G (p.Asn30Lys) | |
20 | g.33438920A>G | CA510252214 | SNTA1 | c.417T>C (p.Asn139=) n.650T>C c.90T>C (p.Asn30=) | |
20 | g.33438920A>T | CA408633457 | SNTA1 | c.417T>A (p.Asn139Lys) n.650T>A c.90T>A (p.Asn30Lys) | |
20 | g.33438921T>A | CA408633458 | SNTA1 | c.416A>T (p.Asn139Ile) n.649A>T c.89A>T (p.Asn30Ile) | |
20 | g.33438921T>C | CA408633459 | SNTA1 | c.416A>G (p.Asn139Ser) n.649A>G c.89A>G (p.Asn30Ser) | gnomAD v4 |
20 | g.33438921T>G | CA408633460 | SNTA1 | c.416A>C (p.Asn139Thr) n.649A>C c.89A>C (p.Asn30Thr) | |
20 | g.33438922T>A | CA408633461 | SNTA1 | c.415A>T (p.Asn139Tyr) n.648A>T c.88A>T (p.Asn30Tyr) | |
20 | g.33438922T>C | CA408633462 | SNTA1 | c.415A>G (p.Asn139Asp) n.648A>G c.88A>G (p.Asn30Asp) | |
20 | g.33438922T>G | CA408633463 | SNTA1 | c.415A>C (p.Asn139His) n.648A>C c.88A>C (p.Asn30His) | |
20 | g.33438923C>A | CA510252215 | SNTA1 | c.414G>T (p.Val138=) n.647G>T c.87G>T (p.Val29=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.33438923C= | CA2360753091 | SNTA1 | c.414G= (p.Val138=) n.647G= c.87G= (p.Val29=) | |
20 | g.33438923C>G | CA510252216 | SNTA1 | c.414G>C (p.Val138=) n.647G>C c.87G>C (p.Val29=) | |
20 | g.33438923C>T | CA510252217 | SNTA1 | c.414G>A (p.Val138=) n.647G>A c.87G>A (p.Val29=) | |
20 | g.33438924A>C | CA408633464 | SNTA1 | c.413T>G (p.Val138Gly) n.646T>G c.86T>G (p.Val29Gly) | |
20 | g.33438924A>G | CA408633465 | SNTA1 | c.413T>C (p.Val138Ala) n.646T>C c.86T>C (p.Val29Ala) | |
20 | g.33438924A>T | CA408633466 | SNTA1 | c.413T>A (p.Val138Glu) n.646T>A c.86T>A (p.Val29Glu) | |
20 | g.33438925C>A | CA408633469 | SNTA1 | c.412G>T (p.Val138Leu) n.645G>T c.85G>T (p.Val29Leu) | |
20 | g.33438925C>G | CA408633467 | SNTA1 | c.412G>C (p.Val138Leu) n.645G>C c.85G>C (p.Val29Leu) | |
20 | g.33438925C>T | CA408633468 | SNTA1 | c.412G>A (p.Val138Met) n.645G>A c.85G>A (p.Val29Met) | |
20 | g.33438926A>C | CA510252218 | SNTA1 | c.411T>G (p.Ser137=) n.644T>G c.84T>G (p.Ser28=) | |
20 | g.33438926A>G | CA510252220 | SNTA1 | c.411T>C (p.Ser137=) n.644T>C c.84T>C (p.Ser28=) | |
20 | g.33438926A>T | CA510252219 | SNTA1 | c.411T>A (p.Ser137=) n.644T>A c.84T>A (p.Ser28=) | |
20 | g.33438927G>A | CA408633470 | SNTA1 | c.410C>T (p.Ser137Phe) n.643C>T c.83C>T (p.Ser28Phe) | |
20 | g.33438927G>C | CA408633471 | SNTA1 | c.410C>G (p.Ser137Cys) n.643C>G c.83C>G (p.Ser28Cys) | |
20 | g.33438927G>T | CA408633472 | SNTA1 | c.410C>A (p.Ser137Tyr) n.643C>A c.83C>A (p.Ser28Tyr) | |
20 | g.33438927_33438928insGT | CA2652478040 | SNTA1 | c.409_410insAC (p.Ser137TyrfsTer3) n.642_643insAC c.82_83insAC (p.Ser28TyrfsTer3) | gnomAD v4 |
20 | g.33438928A>C | CA408633473 | SNTA1 | c.409T>G (p.Ser137Ala) n.642T>G c.82T>G (p.Ser28Ala) | |
20 | g.33438928A>G | CA408633474 | SNTA1 | c.409T>C (p.Ser137Pro) n.642T>C c.82T>C (p.Ser28Pro) | |
20 | g.33438928A>T | CA408633475 | SNTA1 | c.409T>A (p.Ser137Thr) n.642T>A c.82T>A (p.Ser28Thr) | |
20 | g.33438929C>A | CA510252221 | SNTA1 | c.408G>T (p.Leu136=) n.641G>T c.81G>T (p.Leu27=) | |
20 | g.33438929C>G | CA510252222 | SNTA1 | c.408G>C (p.Leu136=) n.641G>C c.81G>C (p.Leu27=) | gnomAD v4 |
20 | g.33438929C>T | CA510252223 | SNTA1 | c.408G>A (p.Leu136=) n.641G>A c.81G>A (p.Leu27=) | gnomAD v4 |
20 | g.33438930A>C | CA408633476 | SNTA1 | c.407T>G (p.Leu136Arg) n.640T>G c.80T>G (p.Leu27Arg) | |
20 | g.33438930A>G | CA408633477 | SNTA1 | c.407T>C (p.Leu136Pro) n.640T>C c.80T>C (p.Leu27Pro) | |
20 | g.33438930A>T | CA408633478 | SNTA1 | c.407T>A (p.Leu136Gln) n.640T>A c.80T>A (p.Leu27Gln) | |
20 | g.33438931G>A | CA510252224 | SNTA1 | c.406C>T (p.Leu136=) n.639C>T c.79C>T (p.Leu27=) | |
20 | g.33438931G>C | CA408633479 | SNTA1 | c.406C>G (p.Leu136Val) n.639C>G c.79C>G (p.Leu27Val) | |
20 | g.33438931G>T | CA408633480 | SNTA1 | c.406C>A (p.Leu136Met) n.639C>A c.79C>A (p.Leu27Met) | |
20 | g.33438932G>A | CA510252225 | SNTA1 | c.405C>T (p.Ile135=) n.638C>T c.78C>T (p.Ile26=) | gnomAD v4 |
20 | g.33438932G>C | CA408633481 | SNTA1 | c.405C>G (p.Ile135Met) n.638C>G c.78C>G (p.Ile26Met) | |
20 | g.33438932G>T | CA510252226 | SNTA1 | c.405C>A (p.Ile135=) n.638C>A c.78C>A (p.Ile26=) | gnomAD v4 |
20 | g.33438933A>C | CA408633484 | SNTA1 | c.404T>G (p.Ile135Ser) n.637T>G c.77T>G (p.Ile26Ser) | |
20 | g.33438933A>G | CA408633483 | SNTA1 | c.404T>C (p.Ile135Thr) n.637T>C c.77T>C (p.Ile26Thr) | |
20 | g.33438933A>T | CA408633482 | SNTA1 | c.404T>A (p.Ile135Asn) n.637T>A c.77T>A (p.Ile26Asn) | |
20 | g.33438934T>A | CA408633486 | SNTA1 | c.403A>T (p.Ile135Phe) n.636A>T c.76A>T (p.Ile26Phe) | |
20 | g.33438934T>C | CA408633485 | SNTA1 | c.403A>G (p.Ile135Val) n.636A>G c.76A>G (p.Ile26Val) | |
20 | g.33438934T>G | CA302339 | SNTA1 | c.403A>C (p.Ile135Leu) n.636A>C c.76A>C (p.Ile26Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33438934T= | CA2360753092 | SNTA1 | c.403A= (p.Ile135=) n.636A= c.76A= (p.Ile26=) | |
20 | g.33438935G>A | CA510252229 | SNTA1 | c.402C>T (p.Ala134=) n.635C>T c.75C>T (p.Ala25=) | gnomAD v4 |
20 | g.33438935G>C | CA510252227 | SNTA1 | c.402C>G (p.Ala134=) n.635C>G c.75C>G (p.Ala25=) | |
20 | g.33438935G>T | CA510252228 | SNTA1 | c.402C>A (p.Ala134=) n.635C>A c.75C>A (p.Ala25=) | |
20 | g.33438936G>A | CA408633487 | SNTA1 | c.401C>T (p.Ala134Val) n.634C>T c.74C>T (p.Ala25Val) | |
20 | g.33438936G>C | CA408633488 | SNTA1 | c.401C>G (p.Ala134Gly) n.634C>G c.74C>G (p.Ala25Gly) | |
20 | g.33438936G>T | CA408633489 | SNTA1 | c.401C>A (p.Ala134Asp) n.634C>A c.74C>A (p.Ala25Asp) | |
20 | g.33438936_33438937insAAG | CA2652478041 | SNTA1 | c.401_402insTTC (p.Ala134_Ile135insSer) n.634_635insTTC c.74_75insTTC (p.Ala25_Ile26insSer) | gnomAD v4 |
20 | g.33438937C>A | CA408633490 | SNTA1 | c.400G>T (p.Ala134Ser) n.633G>T c.73G>T (p.Ala25Ser) | gnomAD v4 |
20 | g.33438937C>G | CA408633491 | SNTA1 | c.400G>C (p.Ala134Pro) n.633G>C c.73G>C (p.Ala25Pro) | |
20 | g.33438937C>T | CA408633492 | SNTA1 | c.400G>A (p.Ala134Thr) n.633G>A c.73G>A (p.Ala25Thr) | |
20 | g.33438938A= | CA2360753093 | SNTA1 | c.399T= (p.Asp133=) n.632T= c.72T= (p.Asp24=) | |
20 | g.33438938A>C | CA408633493 | SNTA1 | c.399T>G (p.Asp133Glu) n.632T>G c.72T>G (p.Asp24Glu) | |
20 | g.33438938A>G | CA313275662 | SNTA1 | c.399T>C (p.Asp133=) n.632T>C c.72T>C (p.Asp24=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438938A>T | CA408633494 | SNTA1 | c.399T>A (p.Asp133Glu) n.632T>A c.72T>A (p.Asp24Glu) | |
20 | g.33438939T>A | CA408633495 | SNTA1 | c.398A>T (p.Asp133Val) n.631A>T c.71A>T (p.Asp24Val) | |
20 | g.33438939T>C | CA408633496 | SNTA1 | c.398A>G (p.Asp133Gly) n.631A>G c.71A>G (p.Asp24Gly) | dbSNP |
20 | g.33438939T>G | CA408633497 | SNTA1 | c.398A>C (p.Asp133Ala) n.631A>C c.71A>C (p.Asp24Ala) | |
20 | g.33438939T= | CA2360753094 | SNTA1 | c.398A= (p.Asp133=) n.631A= c.71A= (p.Asp24=) | |
20 | g.33438940C>A | CA408633499 | SNTA1 | c.397G>T (p.Asp133Tyr) n.630G>T c.70G>T (p.Asp24Tyr) | |
20 | g.33438940C>G | CA408633500 | SNTA1 | c.397G>C (p.Asp133His) n.630G>C c.70G>C (p.Asp24His) | |
20 | g.33438940C>T | CA408633498 | SNTA1 | c.397G>A (p.Asp133Asn) n.630G>A c.70G>A (p.Asp24Asn) | gnomAD v4 |
20 | g.33438941C>A | CA510252231 | SNTA1 | c.396G>T (p.Gly132=) n.629G>T c.69G>T (p.Gly23=) | |
20 | g.33438941C>G | CA510252230 | SNTA1 | c.396G>C (p.Gly132=) n.629G>C c.69G>C (p.Gly23=) | |
20 | g.33438941C>T | CA510252232 | SNTA1 | c.396G>A (p.Gly132=) n.629G>A c.69G>A (p.Gly23=) | |
20 | g.33438942C>A | CA408633501 | SNTA1 | c.395G>T (p.Gly132Val) n.628G>T c.68G>T (p.Gly23Val) | |
20 | g.33438942C>G | CA408633502 | SNTA1 | c.395G>C (p.Gly132Ala) n.628G>C c.68G>C (p.Gly23Ala) | |
20 | g.33438942C>T | CA408633503 | SNTA1 | c.395G>A (p.Gly132Glu) n.628G>A c.68G>A (p.Gly23Glu) | gnomAD v4 |