Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2164141dup | CA2611968133 | TH | c.*97dup (n.*97dup) | gnomAD v4 |
11 | g.2164141del | CA2574757162 | TH | c.*97del (n.*97del) | gnomAD v4 |
11 | g.2164141G>A | CA216281423 | TH | c.*92C>T (n.*92C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164141G= | CA1948002328 | TH | c.*92C= (n.*92C=) | |
11 | g.2164141G>T | CA2574757166 | TH | c.*92C>A (n.*92C>A) | gnomAD v4 |
11 | g.2164142C>A | CA2611968159 | TH | c.*91G>T (n.*91G>T) | gnomAD v4 |
11 | g.2164142C>G | CA2611968160 | TH | c.*91G>C (n.*91G>C) | gnomAD v4 |
11 | g.2164142C>T | CA2574757167 | TH | c.*91G>A (n.*91G>A) | gnomAD v4 |
11 | g.2164142_2164143insTTGCCCTAGCAGCCTAGCCC | CA2790191020 | TH | c.*91_*92insGGCTAGGCTGCTAGGGCAAG (n.*91_*92insGGCTAGGCTGCTAGGGCAAG) | |
11 | g.2164143A>G | CA2611968162 | TH | c.*90T>C (n.*90T>C) | gnomAD v4 |
11 | g.2164144C>A | CA2611968167 | TH | c.*89G>T (n.*89G>T) | gnomAD v4 |
11 | g.2164144C>T | CA2611968171 | TH | c.*89G>A (n.*89G>A) | gnomAD v4 |
11 | g.2164146del | CA2574757168 | TH | c.*89del (n.*89del) | gnomAD v4 |
11 | g.2164145C= | CA1948002330 | TH | c.*88G= (n.*88G=) | |
11 | g.2164145C>G | CA216281428 | TH | c.*88G>C (n.*88G>C) | dbSNP gnomAD v4 |
11 | g.2164145C>T | CA2611968176 | TH | c.*88G>A (n.*88G>A) | gnomAD v4 |
11 | g.2164146C>A | CA2611968178 | TH | c.*87G>T (n.*87G>T) | gnomAD v4 |
11 | g.2164146C= | CA1948002332 | TH | c.*87G= (n.*87G=) | |
11 | g.2164146C>T | CA216281435 | TH | c.*87G>A (n.*87G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164147G>A | CA674603305 | TH | c.*86C>T (n.*86C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164147G= | CA1948002333 | TH | c.*86C= (n.*86C=) | |
11 | g.2164147G>T | CA2611968180 | TH | c.*86C>A (n.*86C>A) | gnomAD v4 |
11 | g.2164149del | CA2574757169 | TH | c.*86del (n.*86del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164148G>A | CA2611968184 | TH | c.*85C>T (n.*85C>T) | dbSNP gnomAD v4 |
11 | g.2164148G>T | CA2574757170 | TH | c.*85C>A (n.*85C>A) | gnomAD v4 |
11 | g.2164149G>A | CA2574757172 | TH | c.*84C>T (n.*84C>T) | gnomAD v4 |
11 | g.2164149G>T | CA2574757171 | TH | c.*84C>A (n.*84C>A) | gnomAD v4 |
11 | g.2164150A= | CA1948002335 | TH | c.*83T= (n.*83T=) | |
11 | g.2164150A>C | CA1948002336 | TH | c.*83T>G (n.*83T>G) | dbSNP |
11 | g.2164150A>G | CA2574757173 | TH | c.*83T>C (n.*83T>C) | gnomAD v4 |
11 | g.2164151C>A | CA2611968190 | TH | c.*82G>T (n.*82G>T) | gnomAD v4 |
11 | g.2164151C>T | CA2611968191 | TH | c.*82G>A (n.*82G>A) | gnomAD v4 |
11 | g.2164152C>A | CA2611968192 | TH | c.*81G>T (n.*81G>T) | gnomAD v4 |
11 | g.2164152C>T | CA2611968194 | TH | c.*81G>A (n.*81G>A) | gnomAD v4 |
11 | g.2164153C>A | CA2611968195 | TH | c.*80G>T (n.*80G>T) | gnomAD v4 |
11 | g.2164153C= | CA1948002337 | TH | c.*80G= (n.*80G=) | |
11 | g.2164153C>G | CA1948002338 | TH | c.*80G>C (n.*80G>C) | dbSNP |
11 | g.2164153C>T | CA2574757174 | TH | c.*80G>A (n.*80G>A) | gnomAD v4 |
11 | g.2164154A>G | CA2611968198 | TH | c.*79T>C (n.*79T>C) | gnomAD v4 |
11 | g.2164155G>A | CA2611968200 | TH | c.*78C>T (n.*78C>T) | gnomAD v4 |
11 | g.2164155G>T | CA2611968201 | TH | c.*78C>A (n.*78C>A) | gnomAD v4 |
11 | g.2164156C>A | CA216281438 | TH | c.*77G>T (n.*77G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164156C= | CA1948002339 | TH | c.*77G= (n.*77G=) | |
11 | g.2164156C>T | CA2611968206 | TH | c.*77G>A (n.*77G>A) | gnomAD v4 |
11 | g.2164157C>A | CA2611968208 | TH | c.*76G>T (n.*76G>T) | gnomAD v4 |
11 | g.2164157C= | CA1948002340 | TH | c.*76G= (n.*76G=) | |
11 | g.2164157C>G | CA216281439 | TH | c.*76G>C (n.*76G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164157C>T | CA2611968211 | TH | c.*76G>A (n.*76G>A) | gnomAD v4 |
11 | g.2164158C>A | CA2611968212 | TH | c.*75G>T (n.*75G>T) | gnomAD v4 |
11 | g.2164158C>T | CA2611968213 | TH | c.*75G>A (n.*75G>A) | gnomAD v4 |
11 | g.2164159C>A | CA2611968214 | TH | c.*74G>T (n.*74G>T) | gnomAD v4 |
11 | g.2164159C= | CA1948002341 | TH | c.*74G= (n.*74G=) | |
11 | g.2164159C>T | CA597431637 | TH | c.*74G>A (n.*74G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164160T>C | CA2611968216 | TH | c.*73A>G (n.*73A>G) | gnomAD v4 |
11 | g.2164161C>A | CA2611968218 | TH | c.*72G>T (n.*72G>T) | gnomAD v4 |
11 | g.2164161C= | CA1948002343 | TH | c.*72G= (n.*72G=) | |
11 | g.2164161C>G | CA2611968219 | TH | c.*72G>C (n.*72G>C) | gnomAD v4 |
11 | g.2164161C>T | CA1948002344 | TH | c.*72G>A (n.*72G>A) | dbSNP gnomAD v4 |
11 | g.2164162A>C | CA2611968221 | TH | c.*71T>G (n.*71T>G) | gnomAD v4 |
11 | g.2164162A>G | CA2611968222 | TH | c.*71T>C (n.*71T>C) | gnomAD v4 |
11 | g.2164162A>T | CA2611968223 | TH | c.*71T>A (n.*71T>A) | gnomAD v4 |
11 | g.2164163C>A | CA216281441 | TH | c.*70G>T (n.*70G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164163C= | CA1948002345 | TH | c.*70G= (n.*70G=) | |
11 | g.2164163C>G | CA1948002348 | TH | c.*70G>C (n.*70G>C) | dbSNP |
11 | g.2164163C>T | CA1948002347 | TH | c.*70G>A (n.*70G>A) | dbSNP gnomAD v4 |
11 | g.2164164C>A | CA2611968229 | TH | c.*69G>T (n.*69G>T) | gnomAD v4 |
11 | g.2164164C>G | CA2611968232 | TH | c.*69G>C (n.*69G>C) | gnomAD v4 |
11 | g.2164164C>T | CA2611968235 | TH | c.*69G>A (n.*69G>A) | gnomAD v4 |
11 | g.2164165A= | CA1948002350 | TH | c.*68T= (n.*68T=) | |
11 | g.2164165A>G | CA597431638 | TH | c.*68T>C (n.*68T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164165A>T | CA2611968237 | TH | c.*68T>A (n.*68T>A) | gnomAD v4 |
11 | g.2164166G>C | CA674603311 | TH | c.*67C>G (n.*67C>G) | dbSNP |
11 | g.2164166G= | CA1948002352 | TH | c.*67C= (n.*67C=) | |
11 | g.2164166G>T | CA2611968239 | TH | c.*67C>A (n.*67C>A) | gnomAD v4 |
11 | g.2164167G>A | CA2611968240 | TH | c.*66C>T (n.*66C>T) | gnomAD v4 |
11 | g.2164167G>T | CA2611968241 | TH | c.*66C>A (n.*66C>A) | gnomAD v4 |
11 | g.2164168G>A | CA2611968243 | TH | c.*65C>T (n.*65C>T) | gnomAD v4 |
11 | g.2164168G>C | CA1948002354 | TH | c.*65C>G (n.*65C>G) | dbSNP |
11 | g.2164168G= | CA1948002353 | TH | c.*65C= (n.*65C=) | |
11 | g.2164168G>T | CA934427694 | TH | c.*65C>A (n.*65C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164169C>A | CA2611968244 | TH | c.*64G>T (n.*64G>T) | gnomAD v4 |
11 | g.2164169C>G | CA2574757175 | TH | c.*64G>C (n.*64G>C) | |
11 | g.2164169C>T | CA2611968245 | TH | c.*64G>A (n.*64G>A) | gnomAD v4 |
11 | g.2164170C>A | CA2611968248 | TH | c.*63G>T (n.*63G>T) | gnomAD v4 |
11 | g.2164170C= | CA1948002356 | TH | c.*63G= (n.*63G=) | |
11 | g.2164170C>T | CA674603312 | TH | c.*63G>A (n.*63G>A) | dbSNP |
11 | g.2164171T>A | CA674603317 | TH | c.*62A>T (n.*62A>T) | dbSNP gnomAD v4 |
11 | g.2164171T>C | CA2611968251 | TH | c.*62A>G (n.*62A>G) | gnomAD v4 |
11 | g.2164171T>G | CA2574757176 | TH | c.*62A>C (n.*62A>C) | gnomAD v4 |
11 | g.2164171T= | CA1948002357 | TH | c.*62A= (n.*62A=) | |
11 | g.2164172G>A | CA674603362 | TH | c.*61C>T (n.*61C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164172G= | CA1948002359 | TH | c.*61C= (n.*61C=) | |
11 | g.2164172G>T | CA2574757177 | TH | c.*61C>A (n.*61C>A) | gnomAD v4 |
11 | g.2164173A>G | CA2611968254 | TH | c.*60T>C (n.*60T>C) | gnomAD v4 |
11 | g.2164174G>A | CA472032476 | TH | c.*59C>T (n.*59C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164174G= | CA1948002360 | TH | c.*59C= (n.*59C=) | |
11 | g.2164174G>T | CA2611968257 | TH | c.*59C>A (n.*59C>A) | gnomAD v4 |
11 | g.2164175C>A | CA674603365 | TH | c.*58G>T (n.*58G>T) | dbSNP gnomAD v4 |
11 | g.2164175C= | CA1948002363 | TH | c.*58G= (n.*58G=) | |
11 | g.2164175C>G | CA2611968261 | TH | c.*58G>C (n.*58G>C) | gnomAD v4 |
11 | g.2164175C>T | CA2611968263 | TH | c.*58G>A (n.*58G>A) | gnomAD v4 |
11 | g.2164176T>C | CA2611968266 | TH | c.*57A>G (n.*57A>G) | gnomAD v4 |
11 | g.2164177C>A | CA2611968269 | TH | c.*56G>T (n.*56G>T) | gnomAD v4 |
11 | g.2164177C>T | CA2611968270 | TH | c.*56G>A (n.*56G>A) | gnomAD v4 |
11 | g.2164178C>A | CA2574757178 | TH | c.*55G>T (n.*55G>T) | gnomAD v4 |
11 | g.2164178C= | CA1948002364 | TH | c.*55G= (n.*55G=) | |
11 | g.2164178C>T | CA13500255 | TH | c.*55G>A (n.*55G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164179G>A | CA216281452 | TH | c.*54C>T (n.*54C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164179G= | CA1948002366 | TH | c.*54C= (n.*54C=) | |
11 | g.2164179G>T | CA2611968284 | TH | c.*54C>A (n.*54C>A) | gnomAD v4 |
11 | g.2164180G>A | CA2611968289 | TH | c.*53C>T (n.*53C>T) | gnomAD v4 |
11 | g.2164180G>C | CA216281461 | TH | c.*53C>G (n.*53C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164180G= | CA1948002367 | TH | c.*53C= (n.*53C=) | |
11 | g.2164180G>T | CA2611968287 | TH | c.*53C>A (n.*53C>A) | gnomAD v4 |
11 | g.2164181G>A | CA10630592 | TH | c.*52C>T (n.*52C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164181G>C | CA2611968293 | TH | c.*52C>G (n.*52C>G) | gnomAD v4 |
11 | g.2164181G= | CA1948002369 | TH | c.*52C= (n.*52C=) | |
11 | g.2164181G>T | CA216281472 | TH | c.*52C>A (n.*52C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164182A>G | CA2611968298 | TH | c.*51T>C (n.*51T>C) | gnomAD v4 |
11 | g.2164183C>A | CA2611968300 | TH | c.*50G>T (n.*50G>T) | gnomAD v4 |
11 | g.2164183C>G | CA2611968301 | TH | c.*50G>C (n.*50G>C) | gnomAD v4 |
11 | g.2164183C>T | CA2590508736 | TH | c.*50G>A (n.*50G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164185G>A | CA5818215 | TH | c.*48C>T (n.*48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164185G= | CA1948002372 | TH | c.*48C= (n.*48C=) | |
11 | g.2164185G>T | CA2611968303 | TH | c.*48C>A (n.*48C>A) | gnomAD v4 |
11 | g.2164186T>C | CA2574757179 | TH | c.*47A>G (n.*47A>G) | gnomAD v4 |
11 | g.2164187G>A | CA2611968305 | TH | c.*46C>T (n.*46C>T) | gnomAD v4 |
11 | g.2164187G>T | CA2611968307 | TH | c.*46C>A (n.*46C>A) | gnomAD v4 |
11 | g.2164188C>A | CA2611968310 | TH | c.*45G>T (n.*45G>T) | gnomAD v4 |
11 | g.2164188C>G | CA2611968309 | TH | c.*45G>C (n.*45G>C) | gnomAD v4 |
11 | g.2164188C>T | CA2611968308 | TH | c.*45G>A (n.*45G>A) | gnomAD v4 |
11 | g.2164189A= | CA1948002373 | TH | c.*44T= (n.*44T=) | |
11 | g.2164189A>C | CA5818216 | TH | c.*44T>G (n.*44T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2164189A>G | CA2574757180 | TH | c.*44T>C (n.*44T>C) | gnomAD v4 |
11 | g.2164190G>A | CA2611968313 | TH | c.*43C>T (n.*43C>T) | gnomAD v4 |
11 | g.2164190G>T | CA2611968314 | TH | c.*43C>A (n.*43C>A) | gnomAD v4 |
11 | g.2164191G>A | CA2611968315 | TH | c.*42C>T (n.*42C>T) | gnomAD v4 |
11 | g.2164191G>C | CA2611968316 | TH | c.*42C>G (n.*42C>G) | gnomAD v4 |
11 | g.2164191G>T | CA2611968317 | TH | c.*42C>A (n.*42C>A) | gnomAD v4 |
11 | g.2164192A>G | CA2611968318 | TH | c.*41T>C (n.*41T>C) | gnomAD v4 |
11 | g.2164193C>A | CA2611968319 | TH | c.*40G>T (n.*40G>T) | gnomAD v4 |
11 | g.2164193C= | CA1948002374 | TH | c.*40G= (n.*40G=) | |
11 | g.2164193C>G | CA674603385 | TH | c.*40G>C (n.*40G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164193C>T | CA2611968321 | TH | c.*40G>A (n.*40G>A) | gnomAD v4 |
11 | g.2164194C>A | CA597431639 | TH | c.*39G>T (n.*39G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164194C= | CA1948002377 | TH | c.*39G= (n.*39G=) | |
11 | g.2164194_2164195delinsCA | CA1948002376 | TH | c.*38_*39delinsTG (n.*38_*39delinsTG) | |
11 | g.2164195del | CA5818217 | TH | c.*38del (n.*38del) | dbSNP ExAC gnomAD v4 |
11 | g.2164195A= | CA1948002380 | TH | c.*38T= (n.*38T=) | |
11 | g.2164195A>C | CA5818218 | TH | c.*38T>G (n.*38T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164195A>G | CA597431640 | TH | c.*38T>C (n.*38T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164196G>C | CA597431641 | TH | c.*37C>G (n.*37C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164196G= | CA1948002381 | TH | c.*37C= (n.*37C=) | |
11 | g.2164196G>T | CA2611968331 | TH | c.*37C>A (n.*37C>A) | gnomAD v4 |
11 | g.2164199del | CA2574757181 | TH | c.*37del (n.*37del) | gnomAD v4 |
11 | g.2164197G>A | CA2611968333 | TH | c.*36C>T (n.*36C>T) | gnomAD v4 |
11 | g.2164197G>C | CA1948002382 | TH | c.*36C>G (n.*36C>G) | dbSNP gnomAD v4 |
11 | g.2164197G= | CA1948002383 | TH | c.*36C= (n.*36C=) | |
11 | g.2164197G>T | CA216281506 | TH | c.*36C>A (n.*36C>A) | dbSNP gnomAD v4 |
11 | g.2164198G>A | CA2611968336 | TH | c.*35C>T (n.*35C>T) | gnomAD v4 |
11 | g.2164198G>T | CA2611968337 | TH | c.*35C>A (n.*35C>A) | gnomAD v4 |
11 | g.2164199G>A | CA934427715 | TH | c.*34C>T (n.*34C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164199G>C | CA2574757182 | TH | c.*34C>G (n.*34C>G) | |
11 | g.2164199G= | CA1948002385 | TH | c.*34C= (n.*34C=) | |
11 | g.2164199G>T | CA2611968339 | TH | c.*34C>A (n.*34C>A) | gnomAD v4 |
11 | g.2164200A= | CA1948002386 | TH | c.*33T= (n.*33T=) | |
11 | g.2164200A>C | CA2611968340 | TH | c.*33T>G (n.*33T>G) | gnomAD v4 |
11 | g.2164200A>G | CA2574757183 | TH | c.*33T>C (n.*33T>C) | gnomAD v4 |
11 | g.2164200A>T | CA1948002387 | TH | c.*33T>A (n.*33T>A) | dbSNP |
11 | g.2164201G>A | CA2574757184 | TH | c.*32C>T (n.*32C>T) | gnomAD v4 |
11 | g.2164201G>T | CA2611968344 | TH | c.*32C>A (n.*32C>A) | gnomAD v4 |
11 | g.2164202G>A | CA2574757185 | TH | c.*31C>T (n.*31C>T) | |
11 | g.2164202G= | CA1948002388 | TH | c.*31C= (n.*31C=) | |
11 | g.2164202G>T | CA5818219 | TH | c.*31C>A (n.*31C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2164203T>C | CA2611968349 | TH | c.*30A>G (n.*30A>G) | gnomAD v4 |
11 | g.2164203T>G | CA2611968348 | TH | c.*30A>C (n.*30A>C) | gnomAD v4 |
11 | g.2164204T>C | CA2611968352 | TH | c.*29A>G (n.*29A>G) | gnomAD v4 |
11 | g.2164205G>A | CA2611968354 | TH | c.*28C>T (n.*28C>T) | gnomAD v4 |
11 | g.2164205G= | CA1948002390 | TH | c.*28C= (n.*28C=) | |
11 | g.2164205G>T | CA5818220 | TH | c.*28C>A (n.*28C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164207del | CA2611968356 | TH | c.*28del (n.*28del) | gnomAD v4 |
11 | g.2164206G>A | CA216281510 | TH | c.*27C>T (n.*27C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2164206G= | CA1948002391 | TH | c.*27C= (n.*27C=) | |
11 | g.2164206G>T | CA2611968359 | TH | c.*27C>A (n.*27C>A) | gnomAD v4 |
11 | g.2164207G>C | CA2611968361 | TH | c.*26C>G (n.*26C>G) | gnomAD v4 |
11 | g.2164207G>T | CA2611968363 | TH | c.*26C>A (n.*26C>A) | gnomAD v4 |
11 | g.2164208A>G | CA2611968367 | TH | c.*25T>C (n.*25T>C) | gnomAD v4 |
11 | g.2164209del | CA2611968365 | TH | c.*25del (n.*25del) | gnomAD v4 |
11 | g.2164209A= | CA1948002392 | TH | c.*24T= (n.*24T=) | |
11 | g.2164209A>C | CA2611968368 | TH | c.*24T>G (n.*24T>G) | gnomAD v4 |
11 | g.2164209A>G | CA5818221 | TH | c.*24T>C (n.*24T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2164209A>T | CA2611968370 | TH | c.*24T>A (n.*24T>A) | gnomAD v4 |
11 | g.2164210G>A | CA1948002395 | TH | c.*23C>T (n.*23C>T) | dbSNP gnomAD v4 |
11 | g.2164210G= | CA1948002394 | TH | c.*23C= (n.*23C=) | |
11 | g.2164210G>T | CA2611968374 | TH | c.*23C>A (n.*23C>A) | gnomAD v4 |
11 | g.2164211G>A | CA2611968376 | TH | c.*22C>T (n.*22C>T) | gnomAD v4 |
11 | g.2164211G>T | CA2574757186 | TH | c.*22C>A (n.*22C>A) | gnomAD v4 |
11 | g.2164212G>A | CA1948002398 | TH | c.*21C>T (n.*21C>T) | dbSNP gnomAD v4 |
11 | g.2164212G= | CA1948002397 | TH | c.*21C= (n.*21C=) | |
11 | g.2164212G>T | CA2611968380 | TH | c.*21C>A (n.*21C>A) | gnomAD v4 |
11 | g.2164212_2164213delinsGC | CA1948002396 | TH | c.*20_*21delinsGC (n.*20_*21delinsGC) | |
11 | g.2164213C>A | CA2611968388 | TH | c.*20G>T (n.*20G>T) | gnomAD v4 |
11 | g.2164213C>G | CA2611968390 | TH | c.*20G>C (n.*20G>C) | gnomAD v4 |
11 | g.2164213C>T | CA2611968408 | TH | c.*20G>A (n.*20G>A) | gnomAD v4 |
11 | g.2164215del | CA216281517 | TH | c.*20del (n.*20del) | dbSNP |
11 | g.2164214C>A | CA2611968411 | TH | c.*19G>T (n.*19G>T) | gnomAD v4 |
11 | g.2164214C= | CA1948002399 | TH | c.*19G= (n.*19G=) | |
11 | g.2164214C>G | CA5818222 | TH | c.*19G>C (n.*19G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2164215C>A | CA2611968441 | TH | c.*18G>T (n.*18G>T) | gnomAD v4 |
11 | g.2164215C>G | CA2574757187 | TH | c.*18G>C (n.*18G>C) | gnomAD v4 |
11 | g.2164215C>T | CA2611968445 | TH | c.*18G>A (n.*18G>A) | gnomAD v4 |
11 | g.2164216T>A | CA2611968447 | TH | c.*17A>T (n.*17A>T) | gnomAD v4 |
11 | g.2164216T>C | CA2611968448 | TH | c.*17A>G (n.*17A>G) | gnomAD v4 |
11 | g.2164216T>G | CA2574757188 | TH | c.*17A>C (n.*17A>C) | |
11 | g.2164217C>A | CA2611968476 | TH | c.*16G>T (n.*16G>T) | gnomAD v4 |
11 | g.2164217C= | CA1948002401 | TH | c.*16G= (n.*16G=) | |
11 | g.2164217C>G | CA5818223 | TH | c.*16G>C (n.*16G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164217C>T | CA2611968472 | TH | c.*16G>A (n.*16G>A) | gnomAD v4 |
11 | g.2164218A= | CA1948002403 | TH | c.*15T= (n.*15T=) | |
11 | g.2164218A>C | CA1948002402 | TH | c.*15T>G (n.*15T>G) | dbSNP gnomAD v4 |
11 | g.2164218A>G | CA2611968479 | TH | c.*15T>C (n.*15T>C) | gnomAD v4 |
11 | g.2164219G>A | CA2611968481 | TH | c.*14C>T (n.*14C>T) | gnomAD v4 |
11 | g.2164219G>T | CA2611968485 | TH | c.*14C>A (n.*14C>A) | gnomAD v4 |
11 | g.2164221del | CA2790191021 | TH | c.*14del (n.*14del) | |
11 | g.2164220G>A | CA2611968489 | TH | c.*13C>T (n.*13C>T) | gnomAD v4 |
11 | g.2164220G>C | CA597431657 | TH | c.*13C>G (n.*13C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2164220G= | CA1948002404 | TH | c.*13C= (n.*13C=) | |
11 | g.2164220G>T | CA2611968491 | TH | c.*13C>A (n.*13C>A) | gnomAD v4 |
11 | g.2164221G>A | CA2611968495 | TH | c.*12C>T (n.*12C>T) | gnomAD v4 |
11 | g.2164221G>C | CA2611968498 | TH | c.*12C>G (n.*12C>G) | gnomAD v4 |
11 | g.2164221G>T | CA2611968500 | TH | c.*12C>A (n.*12C>A) | gnomAD v4 |
11 | g.2164222A>G | CA2611968502 | TH | c.*11T>C (n.*11T>C) | gnomAD v4 |
11 | g.2164223C>A | CA2611968504 | TH | c.*10G>T (n.*10G>T) | gnomAD v4 |
11 | g.2164223C= | CA1948002406 | TH | c.*10G= (n.*10G=) | |
11 | g.2164223C>T | CA5818224 | TH | c.*10G>A (n.*10G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164224G>A | CA5818225 | TH | c.*9C>T (n.*9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164224G= | CA1948002408 | TH | c.*9C= (n.*9C=) | |
11 | g.2164224G>T | CA674603411 | TH | c.*9C>A (n.*9C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164225C>A | CA2611968513 | TH | c.*8G>T (n.*8G>T) | gnomAD v4 |
11 | g.2164225C= | CA1948002411 | TH | c.*8G= (n.*8G=) | |
11 | g.2164225C>G | CA5818226 | TH | c.*8G>C (n.*8G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164225C>T | CA1948002413 | TH | c.*8G>A (n.*8G>A) | dbSNP gnomAD v4 |
11 | g.2164226C>A | CA5818227 | TH | c.*7G>T (n.*7G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2164226C= | CA1948002416 | TH | c.*7G= (n.*7G=) | |
11 | g.2164226C>T | CA5818228 | TH | c.*7G>A (n.*7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164226_2164227insAGGCCAATGTCCTGTGGAGCAGGGAGGATGAAGGATGGGGAGAGGCAGCCCTGG | CA2611968530 | TH | c.*6_*7insCCAGGGCTGCCTCTCCCCATCCTTCATCCTCCCTGCTCCACAGGACATTGGCCT (n.*6_*7insCCAGGGCTGCCTCTCCCCATCCTTCATCCTCCCTGCTCCACAGGACATTGGCCT) | gnomAD v4 |
11 | g.2164227G>A | CA5818229 | TH | c.*6C>T (n.*6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164227G= | CA1948002417 | TH | c.*6C= (n.*6C=) | |
11 | g.2164227G>T | CA2611968531 | TH | c.*6C>A (n.*6C>A) | gnomAD v4 |
11 | g.2164228T>C | CA1948002420 | TH | c.*5A>G (n.*5A>G) | dbSNP gnomAD v4 |
11 | g.2164228T= | CA1948002419 | TH | c.*5A= (n.*5A=) | |
11 | g.2164229G>A | CA5818230 | TH | c.*4C>T (n.*4C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2164229G>C | CA934427728 | TH | c.*4C>G (n.*4C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164229G= | CA1948002421 | TH | c.*4C= (n.*4C=) | |
11 | g.2164229G>T | CA2611968542 | TH | c.*4C>A (n.*4C>A) | gnomAD v4 |
11 | g.2164230C>A | CA1948002424 | TH | c.*3G>T (n.*3G>T) | dbSNP gnomAD v4 |
11 | g.2164230C= | CA1948002423 | TH | c.*3G= (n.*3G=) | |
11 | g.2164230C>T | CA2574757189 | TH | c.*3G>A (n.*3G>A) | gnomAD v4 |
11 | g.2164232C>A | CA2611968554 | TH | c.*1G>T (n.*1G>T) | gnomAD v4 |
11 | g.2164232C>G | CA2611968556 | TH | c.*1G>C (n.*1G>C) | gnomAD v4 |
11 | g.2164232C>T | CA2611968558 | TH | c.*1G>A (n.*1G>A) | gnomAD v4 |
11 | g.2164233C>A | CA379123873 | TH | c.1494G>T (p.Ter498Tyr) c.1212G>T (p.Ter404Tyr) c.1575G>T (p.Ter525Tyr) c.1587G>T (p.Ter529Tyr) c.1506G>T (p.Ter502Tyr) | gnomAD v4 |
11 | g.2164233C>G | CA379123875 | TH | c.1494G>C (p.Ter498Tyr) c.1212G>C (p.Ter404Tyr) c.1575G>C (p.Ter525Tyr) c.1587G>C (p.Ter529Tyr) c.1506G>C (p.Ter502Tyr) | |
11 | g.2164233C>T | CA472032503 | TH | c.1494G>A (p.Ter498=) c.1212G>A (p.Ter404=) c.1575G>A (p.Ter525=) c.1587G>A (p.Ter529=) c.1506G>A (p.Ter502=) | |
11 | g.2164234T>A | CA379123877 | TH | c.1493A>T (p.Ter498Leu) c.1211A>T (p.Ter404Leu) c.1574A>T (p.Ter525Leu) c.1586A>T (p.Ter529Leu) c.1505A>T (p.Ter502Leu) | |
11 | g.2164234T>C | CA379123879 | TH | c.1493A>G (p.Ter498Trp) c.1211A>G (p.Ter404Trp) c.1574A>G (p.Ter525Trp) c.1586A>G (p.Ter529Trp) c.1505A>G (p.Ter502Trp) | dbSNP gnomAD v4 |
11 | g.2164234T>G | CA379123881 | TH | c.1493A>C (p.Ter498Ser) c.1211A>C (p.Ter404Ser) c.1574A>C (p.Ter525Ser) c.1586A>C (p.Ter529Ser) c.1505A>C (p.Ter502Ser) | |
11 | g.2164234T= | CA1948002425 | TH | c.1493A= (p.Ter498=) c.1211A= (p.Ter404=) c.1574A= (p.Ter525=) c.1586A= (p.Ter529=) c.1505A= (p.Ter502=) | |
11 | g.2164235A>C | CA379123885 | TH | c.1492T>G (p.Ter498Glu) c.1210T>G (p.Ter404Glu) c.1573T>G (p.Ter525Glu) c.1585T>G (p.Ter529Glu) c.1504T>G (p.Ter502Glu) | |
11 | g.2164235A>G | CA379123886 | TH | c.1492T>C (p.Ter498Gln) c.1210T>C (p.Ter404Gln) c.1573T>C (p.Ter525Gln) c.1585T>C (p.Ter529Gln) c.1504T>C (p.Ter502Gln) | gnomAD v4 |
11 | g.2164235A>T | CA379123888 | TH | c.1492T>A (p.Ter498Lys) c.1210T>A (p.Ter404Lys) c.1573T>A (p.Ter525Lys) c.1585T>A (p.Ter529Lys) c.1504T>A (p.Ter502Lys) | gnomAD v4 |
11 | g.2164236G>A | CA472032511 | TH | c.1491C>T (p.Gly497=) c.1209C>T (p.Gly403=) c.1572C>T (p.Gly524=) c.1584C>T (p.Gly528=) c.1503C>T (p.Gly501=) | gnomAD v4 |
11 | g.2164236G>C | CA472032513 | TH | c.1491C>G (p.Gly497=) c.1209C>G (p.Gly403=) c.1572C>G (p.Gly524=) c.1584C>G (p.Gly528=) c.1503C>G (p.Gly501=) | dbSNP |
11 | g.2164236G= | CA1948002427 | TH | c.1491C= (p.Gly497=) c.1209C= (p.Gly403=) c.1572C= (p.Gly524=) c.1584C= (p.Gly528=) c.1503C= (p.Gly501=) | |
11 | g.2164236G>T | CA472032515 | TH | c.1491C>A (p.Gly497=) c.1209C>A (p.Gly403=) c.1572C>A (p.Gly524=) c.1584C>A (p.Gly528=) c.1503C>A (p.Gly501=) | gnomAD v4 |
11 | g.2164237C>A | CA5818232 | TH | c.1490G>T (p.Gly497Val) c.1208G>T (p.Gly403Val) c.1571G>T (p.Gly524Val) c.1583G>T (p.Gly528Val) c.1502G>T (p.Gly501Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2164237C= | CA1948002429 | TH | c.1490G= (p.Gly497=) c.1208G= (p.Gly403=) c.1571G= (p.Gly524=) c.1583G= (p.Gly528=) c.1502G= (p.Gly501=) | |
11 | g.2164237C>G | CA379123892 | TH | c.1490G>C (p.Gly497Ala) c.1208G>C (p.Gly403Ala) c.1571G>C (p.Gly524Ala) c.1583G>C (p.Gly528Ala) c.1502G>C (p.Gly501Ala) | |
11 | g.2164237C>T | CA5818231 | TH | c.1490G>A (p.Gly497Asp) c.1208G>A (p.Gly403Asp) c.1571G>A (p.Gly524Asp) c.1583G>A (p.Gly528Asp) c.1502G>A (p.Gly501Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2164238C>A | CA379123899 | TH | c.1489G>T (p.Gly497Cys) c.1207G>T (p.Gly403Cys) c.1570G>T (p.Gly524Cys) c.1582G>T (p.Gly528Cys) c.1501G>T (p.Gly501Cys) | gnomAD v4 |
11 | g.2164238C>G | CA379123895 | TH | c.1489G>C (p.Gly497Arg) c.1207G>C (p.Gly403Arg) c.1570G>C (p.Gly524Arg) c.1582G>C (p.Gly528Arg) c.1501G>C (p.Gly501Arg) | |
11 | g.2164238C>T | CA379123897 | TH | c.1489G>A (p.Gly497Ser) c.1207G>A (p.Gly403Ser) c.1570G>A (p.Gly524Ser) c.1582G>A (p.Gly528Ser) c.1501G>A (p.Gly501Ser) | gnomAD v4 |
11 | g.2164239A>C | CA379123903 | TH | c.1488T>G (p.Ile496Met) c.1206T>G (p.Ile402Met) c.1569T>G (p.Ile523Met) c.1581T>G (p.Ile527Met) c.1500T>G (p.Ile500Met) | |
11 | g.2164239A>G | CA472032527 | TH | c.1488T>C (p.Ile496=) c.1206T>C (p.Ile402=) c.1569T>C (p.Ile523=) c.1581T>C (p.Ile527=) c.1500T>C (p.Ile500=) | gnomAD v4 |
11 | g.2164239A>T | CA472032525 | TH | c.1488T>A (p.Ile496=) c.1206T>A (p.Ile402=) c.1569T>A (p.Ile523=) c.1581T>A (p.Ile527=) c.1500T>A (p.Ile500=) | |
11 | g.2164240A= | CA1948002432 | TH | c.1487T= (p.Ile496=) c.1205T= (p.Ile402=) c.1568T= (p.Ile523=) c.1580T= (p.Ile527=) c.1499T= (p.Ile500=) | |
11 | g.2164240A>C | CA379123906 | TH | c.1487T>G (p.Ile496Ser) c.1205T>G (p.Ile402Ser) c.1568T>G (p.Ile523Ser) c.1580T>G (p.Ile527Ser) c.1499T>G (p.Ile500Ser) | |
11 | g.2164240A>G | CA379123909 | TH | c.1487T>C (p.Ile496Thr) c.1205T>C (p.Ile402Thr) c.1568T>C (p.Ile523Thr) c.1580T>C (p.Ile527Thr) c.1499T>C (p.Ile500Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2164240A>T | CA379123911 | TH | c.1487T>A (p.Ile496Asn) c.1205T>A (p.Ile402Asn) c.1568T>A (p.Ile523Asn) c.1580T>A (p.Ile527Asn) c.1499T>A (p.Ile500Asn) | |
11 | g.2164241T>A | CA379123913 | TH | c.1486A>T (p.Ile496Phe) c.1204A>T (p.Ile402Phe) c.1567A>T (p.Ile523Phe) c.1579A>T (p.Ile527Phe) c.1498A>T (p.Ile500Phe) | |
11 | g.2164241T>C | CA379123918 | TH | c.1486A>G (p.Ile496Val) c.1204A>G (p.Ile402Val) c.1567A>G (p.Ile523Val) c.1579A>G (p.Ile527Val) c.1498A>G (p.Ile500Val) | gnomAD v4 |
11 | g.2164241T>G | CA379123921 | TH | c.1486A>C (p.Ile496Leu) c.1204A>C (p.Ile402Leu) c.1567A>C (p.Ile523Leu) c.1579A>C (p.Ile527Leu) c.1498A>C (p.Ile500Leu) |