| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431413_229431415del | CA2698259178 | ACTA1 | c.*84_*86del (n.*84_*86del) | dbSNP |
| 1 | g.229431415A= | CA1226125288 | ACTA1 | c.*84T= (n.*84T=) | |
| 1 | g.229431415A>G | CA1226125289 | ACTA1 | c.*84T>C (n.*84T>C) | dbSNP gnomAD v4 |
| 1 | g.229431417T>G | CA529915219 | ACTA1 | c.*82A>C (n.*82A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431417T= | CA1226125290 | ACTA1 | c.*82A= (n.*82A=) | |
| 1 | g.229431418G>T | CA2650926549 | ACTA1 | c.*81C>A (n.*81C>A) | gnomAD v4 |
| 1 | g.229431419C>A | CA2650926550 | ACTA1 | c.*80G>T (n.*80G>T) | gnomAD v4 |
| 1 | g.229431419C>T | CA2650926551 | ACTA1 | c.*80G>A (n.*80G>A) | gnomAD v4 |
| 1 | g.229431420G>A | CA1226125292 | ACTA1 | c.*79C>T (n.*79C>T) | dbSNP gnomAD v4 |
| 1 | g.229431420G= | CA1226125291 | ACTA1 | c.*79C= (n.*79C=) | |
| 1 | g.229431420_229431421insC | CA2698259183 | ACTA1 | c.*78_*79insG (n.*78_*79insG) | dbSNP |
| 1 | g.229431421G>C | CA1226125293 | ACTA1 | c.*78C>G (n.*78C>G) | dbSNP gnomAD v4 |
| 1 | g.229431421G= | CA1226125294 | ACTA1 | c.*78C= (n.*78C=) | |
| 1 | g.229431421_229431422insC | CA2698259186 | ACTA1 | c.*77_*78insG (n.*77_*78insG) | dbSNP |
| 1 | g.229431422G>A | CA732579104 | ACTA1 | c.*77C>T (n.*77C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431422G= | CA1226125295 | ACTA1 | c.*77C= (n.*77C=) | |
| 1 | g.229431423G>A | CA38814558 | ACTA1 | c.*76C>T (n.*76C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431423G= | CA1226125296 | ACTA1 | c.*76C= (n.*76C=) | |
| 1 | g.229431423G>T | CA2650926552 | ACTA1 | c.*76C>A (n.*76C>A) | gnomAD v4 |
| 1 | g.229431424T>G | CA1226125298 | ACTA1 | c.*75A>C (n.*75A>C) | dbSNP |
| 1 | g.229431424T= | CA1226125297 | ACTA1 | c.*75A= (n.*75A=) | |
| 1 | g.229431425G>A | CA2650926554 | ACTA1 | c.*74C>T (n.*74C>T) | gnomAD v4 |
| 1 | g.229431425G>T | CA2650926553 | ACTA1 | c.*74C>A (n.*74C>A) | gnomAD v4 |
| 1 | g.229431426G>A | CA1013145055 | ACTA1 | c.*73C>T (n.*73C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431426G= | CA1226125299 | ACTA1 | c.*73C= (n.*73C=) | |
| 1 | g.229431426G>T | CA2650926555 | ACTA1 | c.*73C>A (n.*73C>A) | gnomAD v4 |
| 1 | g.229431427C= | CA1226125301 | ACTA1 | c.*72G= (n.*72G=) | |
| 1 | g.229431427C>G | CA2574151171 | ACTA1 | c.*72G>C (n.*72G>C) | gnomAD v4 |
| 1 | g.229431427C>T | CA1226125300 | ACTA1 | c.*72G>A (n.*72G>A) | dbSNP gnomAD v4 |
| 1 | g.229431428T>C | CA2574151172 | ACTA1 | c.*71A>G (n.*71A>G) | |
| 1 | g.229431430G>A | CA732579112 | ACTA1 | c.*69C>T (n.*69C>T) | dbSNP |
| 1 | g.229431430G= | CA1226125302 | ACTA1 | c.*69C= (n.*69C=) | |
| 1 | g.229431430G>T | CA2650926556 | ACTA1 | c.*69C>A (n.*69C>A) | gnomAD v4 |
| 1 | g.229431431A= | CA1226125303 | ACTA1 | c.*68T= (n.*68T=) | |
| 1 | g.229431431A>C | CA2574151173 | ACTA1 | c.*68T>G (n.*68T>G) | |
| 1 | g.229431431A>G | CA1226125304 | ACTA1 | c.*68T>C (n.*68T>C) | dbSNP |
| 1 | g.229431432G>A | CA1226125306 | ACTA1 | c.*67C>T (n.*67C>T) | dbSNP |
| 1 | g.229431432G= | CA1226125305 | ACTA1 | c.*67C= (n.*67C=) | |
| 1 | g.229431433C= | CA1226125307 | ACTA1 | c.*66G= (n.*66G=) | |
| 1 | g.229431433C>G | CA732579119 | ACTA1 | c.*66G>C (n.*66G>C) | dbSNP |
| 1 | g.229431433C>T | CA732579117 | ACTA1 | c.*66G>A (n.*66G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431434T>C | CA1226125308 | ACTA1 | c.*65A>G (n.*65A>G) | dbSNP gnomAD v4 |
| 1 | g.229431434T= | CA1226125309 | ACTA1 | c.*65A= (n.*65A=) | |
| 1 | g.229431435C>A | CA2650926557 | ACTA1 | c.*64G>T (n.*64G>T) | gnomAD v4 |
| 1 | g.229431435C= | CA1226125310 | ACTA1 | c.*64G= (n.*64G=) | |
| 1 | g.229431435C>T | CA1226125311 | ACTA1 | c.*64G>A (n.*64G>A) | dbSNP gnomAD v4 |
| 1 | g.229431435dup | CA2574151175 | ACTA1 | c.*64dup (n.*64dup) | |
| 1 | g.229431436A>T | CA2650926558 | ACTA1 | c.*63T>A (n.*63T>A) | gnomAD v4 |
| 1 | g.229431438C>A | CA2650926559 | ACTA1 | c.*61G>T (n.*61G>T) | gnomAD v4 |
| 1 | g.229431438C>T | CA2574151176 | ACTA1 | c.*61G>A (n.*61G>A) | |
| 1 | g.229431439C= | CA1226125312 | ACTA1 | c.*60G= (n.*60G=) | |
| 1 | g.229431439C>T | CA1226125313 | ACTA1 | c.*60G>A (n.*60G>A) | dbSNP |
| 1 | g.229431440G>A | CA2574151178 | ACTA1 | c.*59C>T (n.*59C>T) | gnomAD v4 |
| 1 | g.229431440G= | CA1226125316 | ACTA1 | c.*59C= (n.*59C=) | |
| 1 | g.229431440G>T | CA1226125315 | ACTA1 | c.*59C>A (n.*59C>A) | dbSNP gnomAD v4 |
| 1 | g.229431440_229431443delinsGCCC | CA1226125314 | ACTA1 | c.*56_*59delinsGGGC (n.*56_*59delinsGGGC) | |
| 1 | g.229431441C= | CA1226125318 | ACTA1 | c.*58G= (n.*58G=) | |
| 1 | g.229431441C>G | CA529915220 | ACTA1 | c.*58G>C (n.*58G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431441C>T | CA732579127 | ACTA1 | c.*58G>A (n.*58G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431441_229431447delinsCCCCCCC | CA1142265291 | ACTA1 | c.*52_*58delinsGGGGGGG (n.*52_*58delinsGGGGGGG) | |
| 1 | g.229431447dup | CA38814565 | ACTA1 | c.*58dup (n.*58dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431445_229431447dup | CA2748054867 | ACTA1 | c.*56_*58dup (n.*56_*58dup) | |
| 1 | g.229431447del | CA732579131 | ACTA1 | c.*58del (n.*58del) | dbSNP gnomAD v4 |
| 1 | g.229431445_229431447del | CA1226125317 | ACTA1 | c.*56_*58del (n.*56_*58del) | dbSNP gnomAD v4 |
| 1 | g.229431442C>A | CA732579134 | ACTA1 | c.*57G>T (n.*57G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431442C= | CA1226125319 | ACTA1 | c.*57G= (n.*57G=) | |
| 1 | g.229431442C>G | CA2650926560 | ACTA1 | c.*57G>C (n.*57G>C) | gnomAD v4 |
| 1 | g.229431443C>A | CA2574151186 | ACTA1 | c.*56G>T (n.*56G>T) | |
| 1 | g.229431443C= | CA1226125320 | ACTA1 | c.*56G= (n.*56G=) | |
| 1 | g.229431443C>G | CA1226125321 | ACTA1 | c.*56G>C (n.*56G>C) | dbSNP |
| 1 | g.229431443C>T | CA529915221 | ACTA1 | c.*56G>A (n.*56G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431444C= | CA1226125322 | ACTA1 | c.*55G= (n.*55G=) | |
| 1 | g.229431444C>T | CA732579136 | ACTA1 | c.*55G>A (n.*55G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431445C>A | CA732579140 | ACTA1 | c.*54G>T (n.*54G>T) | dbSNP gnomAD v4 |
| 1 | g.229431445C= | CA1226125323 | ACTA1 | c.*54G= (n.*54G=) | |
| 1 | g.229431445C>G | CA732579139 | ACTA1 | c.*54G>C (n.*54G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431445C>T | CA2650926561 | ACTA1 | c.*54G>A (n.*54G>A) | gnomAD v4 |
| 1 | g.229431446C>A | CA732579147 | ACTA1 | c.*53G>T (n.*53G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431446C= | CA1226125324 | ACTA1 | c.*53G= (n.*53G=) | |
| 1 | g.229431446C>G | CA38814570 | ACTA1 | c.*53G>C (n.*53G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431446C>T | CA38814579 | ACTA1 | c.*53G>A (n.*53G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431447C>A | CA2574151187 | ACTA1 | c.*52G>T (n.*52G>T) | |
| 1 | g.229431447C= | CA1226125325 | ACTA1 | c.*52G= (n.*52G=) | |
| 1 | g.229431447C>G | CA2538790966 | ACTA1 | c.*52G>C (n.*52G>C) | gnomAD v4 |
| 1 | g.229431447C>T | CA1226125326 | ACTA1 | c.*52G>A (n.*52G>A) | dbSNP gnomAD v4 |
| 1 | g.229431448A= | CA1226125327 | ACTA1 | c.*51T= (n.*51T=) | |
| 1 | g.229431448A>C | CA1226125328 | ACTA1 | c.*51T>G (n.*51T>G) | dbSNP |
| 1 | g.229431448dup | CA2650926562 | ACTA1 | c.*51dup (n.*51dup) | gnomAD v4 |
| 1 | g.229431449T>C | CA529915222 | ACTA1 | c.*50A>G (n.*50A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431449T>G | CA2650926563 | ACTA1 | c.*50A>C (n.*50A>C) | gnomAD v4 |
| 1 | g.229431449T= | CA1226125329 | ACTA1 | c.*50A= (n.*50A=) | |
| 1 | g.229431453G>C | CA529915223 | ACTA1 | c.*46C>G (n.*46C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431453G= | CA1226125330 | ACTA1 | c.*46C= (n.*46C=) | |
| 1 | g.229431454A= | CA1226125331 | ACTA1 | c.*45T= (n.*45T=) | |
| 1 | g.229431454A>C | CA1226125332 | ACTA1 | c.*45T>G (n.*45T>G) | dbSNP |
| 1 | g.229431454A>G | CA2748054869 | ACTA1 | c.*45T>C (n.*45T>C) | |
| 1 | g.229431460C>A | CA529915224 | ACTA1 | c.*39G>T (n.*39G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431460C= | CA1226125333 | ACTA1 | c.*39G= (n.*39G=) | |
| 1 | g.229431460C>G | CA529915225 | ACTA1 | c.*39G>C (n.*39G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431460C>T | CA1442697 | ACTA1 | c.*39G>A (n.*39G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.229431461G>C | CA529915226 | ACTA1 | c.*38C>G (n.*38C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431461G= | CA1226125334 | ACTA1 | c.*38C= (n.*38C=) | |
| 1 | g.229431461G>T | CA1442698 | ACTA1 | c.*38C>A (n.*38C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229431462T>G | CA529915227 | ACTA1 | c.*37A>C (n.*37A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431462T= | CA1226125335 | ACTA1 | c.*37A= (n.*37A=) | |
| 1 | g.229431463C= | CA1226125336 | ACTA1 | c.*36G= (n.*36G=) | |
| 1 | g.229431463C>G | CA732579165 | ACTA1 | c.*36G>C (n.*36G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431463C>T | CA1442699 | ACTA1 | c.*36G>A (n.*36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229431464G>A | CA732579167 | ACTA1 | c.*35C>T (n.*35C>T) | dbSNP |
| 1 | g.229431464G= | CA1226125337 | ACTA1 | c.*35C= (n.*35C=) | |
| 1 | g.229431464_229431465insA | CA646467690 | ACTA1 | c.*34_*35insT (n.*34_*35insT) | COSMIC |
| 1 | g.229431465T>C | CA2650926564 | ACTA1 | c.*34A>G (n.*34A>G) | gnomAD v4 |
| 1 | g.229431468T>C | CA2650926565 | ACTA1 | c.*31A>G (n.*31A>G) | gnomAD v4 |
| 1 | g.229431468T>G | CA2574151188 | ACTA1 | c.*31A>C (n.*31A>C) | gnomAD v4 |
| 1 | g.229431468T= | CA1226125338 | ACTA1 | c.*31A= (n.*31A=) | |
| 1 | g.229431469G>T | CA2650926566 | ACTA1 | c.*30C>A (n.*30C>A) | gnomAD v4 |
| 1 | g.229431469_229431470insGGG | CA2698259205 | ACTA1 | c.*30_*31insCCC (n.*30_*31insCCC) | dbSNP |
| 1 | g.229431469_229431471dup | CA916422658 | ACTA1 | c.*28_*30dup (n.*28_*30dup) | dbSNP |
| 1 | g.229431471G>T | CA646467693 | ACTA1 | c.*28C>A (n.*28C>A) | COSMIC |
| 1 | g.229431474G>C | CA2650926567 | ACTA1 | c.*25C>G (n.*25C>G) | gnomAD v4 |
| 1 | g.229431474G= | CA1226125340 | ACTA1 | c.*25C= (n.*25C=) | |
| 1 | g.229431474G>T | CA1226125339 | ACTA1 | c.*25C>A (n.*25C>A) | dbSNP |
| 1 | g.229431475T>C | CA38814586 | ACTA1 | c.*24A>G (n.*24A>G) | dbSNP |
| 1 | g.229431475T= | CA1147598691 | ACTA1 | c.*24A= (n.*24A=) | |
| 1 | g.229431476C>A | CA529915228 | ACTA1 | c.*23G>T (n.*23G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431476C= | CA1226125341 | ACTA1 | c.*23G= (n.*23G=) | |
| 1 | g.229431476C>T | CA2650926568 | ACTA1 | c.*23G>A (n.*23G>A) | gnomAD v4 |
| 1 | g.229431477G>A | CA2650926569 | ACTA1 | c.*22C>T (n.*22C>T) | gnomAD v4 |
| 1 | g.229431477G>T | CA2650926570 | ACTA1 | c.*22C>A (n.*22C>A) | gnomAD v4 |
| 1 | g.229431478C>A | CA1226125343 | ACTA1 | c.*21G>T (n.*21G>T) | dbSNP gnomAD v4 |
| 1 | g.229431478C= | CA1226125342 | ACTA1 | c.*21G= (n.*21G=) | |
| 1 | g.229431478C>G | CA2650926571 | ACTA1 | c.*21G>C (n.*21G>C) | gnomAD v4 |
| 1 | g.229431478C>T | CA529915229 | ACTA1 | c.*21G>A (n.*21G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431479G>A | CA1226125344 | ACTA1 | c.*20C>T (n.*20C>T) | dbSNP gnomAD v4 |
| 1 | g.229431479G>C | CA1442700 | ACTA1 | c.*20C>G (n.*20C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431479G= | CA1226125345 | ACTA1 | c.*20C= (n.*20C=) | |
| 1 | g.229431480del | CA2698259208 | ACTA1 | c.*19del (n.*19del) | dbSNP |
| 1 | g.229431480T>C | CA1226125347 | ACTA1 | c.*19A>G (n.*19A>G) | dbSNP gnomAD v4 |
| 1 | g.229431480T= | CA1226125346 | ACTA1 | c.*19A= (n.*19A=) | |
| 1 | g.229431483T>C | CA1442701 | ACTA1 | c.*16A>G (n.*16A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229431483T= | CA1226125348 | ACTA1 | c.*16A= (n.*16A=) | |
| 1 | g.229431484G>A | CA2650926572 | ACTA1 | c.*15C>T (n.*15C>T) | gnomAD v4 |
| 1 | g.229431484G>C | CA2650926573 | ACTA1 | c.*15C>G (n.*15C>G) | gnomAD v4 |
| 1 | g.229431484G>T | CA2650926574 | ACTA1 | c.*15C>A (n.*15C>A) | gnomAD v4 |
| 1 | g.229431484_229431485insTCG | CA2698259236 | ACTA1 | c.*15_*16insGAC (n.*15_*16insGAC) | dbSNP |
| 1 | g.229431485G>C | CA529915230 | ACTA1 | c.*14C>G (n.*14C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431485G= | CA1143711365 | ACTA1 | c.*14C= (n.*14C=) | |
| 1 | g.229431485G>T | CA1442702 | ACTA1 | c.*14C>A (n.*14C>A) | dbSNP ExAC gnomAD v4 |
| 1 | g.229431486A= | CA1226125349 | ACTA1 | c.*13T= (n.*13T=) | |
| 1 | g.229431486A>T | CA1226125350 | ACTA1 | c.*13T>A (n.*13T>A) | dbSNP |
| 1 | g.229431487G>A | CA732579183 | ACTA1 | c.*12C>T (n.*12C>T) | dbSNP |
| 1 | g.229431487G= | CA1226125351 | ACTA1 | c.*12C= (n.*12C=) | |
| 1 | g.229431488_229431491del | CA2698259238 | ACTA1 | c.*9_*12del (n.*9_*12del) | dbSNP |
| 1 | g.229431488G>A | CA2650926575 | ACTA1 | c.*11C>T (n.*11C>T) | gnomAD v4 |
| 1 | g.229431489T>C | CA1226125353 | ACTA1 | c.*10A>G (n.*10A>G) | dbSNP gnomAD v4 |
| 1 | g.229431489T= | CA1226125352 | ACTA1 | c.*10A= (n.*10A=) | |
| 1 | g.229431490G>A | CA2650926576 | ACTA1 | c.*9C>T (n.*9C>T) | gnomAD v4 |
| 1 | g.229431493G>A | CA529915231 | ACTA1 | c.*6C>T (n.*6C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431493G= | CA1226125354 | ACTA1 | c.*6C= (n.*6C=) | |
| 1 | g.229431494del | CA2698259239 | ACTA1 | c.*5del (n.*5del) | dbSNP |
| 1 | g.229431494T>C | CA2650926577 | ACTA1 | c.*5A>G (n.*5A>G) | gnomAD v4 |
| 1 | g.229431494T= | CA1226125355 | ACTA1 | c.*5A= (n.*5A=) | |
| 1 | g.229431495G>A | CA2650926578 | ACTA1 | c.*4C>T (n.*4C>T) | gnomAD v4 |
| 1 | g.229431495dup | CA916422659 | ACTA1 | c.*4dup (n.*4dup) | dbSNP |
| 1 | g.229431496T>G | CA1226125357 | ACTA1 | c.*3A>C (n.*3A>C) | dbSNP |
| 1 | g.229431496T= | CA1226125356 | ACTA1 | c.*3A= (n.*3A=) | |
| 1 | g.229431499C>A | CA345144019 | ACTA1 | c.1056G>T (p.Ter352Tyr) c.999G>T (p.Ter333Tyr) c.765G>T (p.Ter255Tyr) c.1134G>T (p.Ter378Tyr) | |
| 1 | g.229431499C>G | CA345144022 | ACTA1 | c.1056G>C (p.Ter352Tyr) c.999G>C (p.Ter333Tyr) c.765G>C (p.Ter255Tyr) c.1134G>C (p.Ter378Tyr) | |
| 1 | g.229431499C>T | CA423754783 | ACTA1 | c.1056G>A (p.Ter352=) c.999G>A (p.Ter333=) c.765G>A (p.Ter255=) c.1134G>A (p.Ter378=) | |
| 1 | g.229431500T>A | CA345144023 | ACTA1 | c.1055A>T (p.Ter352Leu) c.998A>T (p.Ter333Leu) c.764A>T (p.Ter255Leu) c.1133A>T (p.Ter378Leu) | |
| 1 | g.229431500T>C | CA345144024 | ACTA1 | c.1055A>G (p.Ter352Trp) c.998A>G (p.Ter333Trp) c.764A>G (p.Ter255Trp) c.1133A>G (p.Ter378Trp) | |
| 1 | g.229431500T>G | CA345144025 | ACTA1 | c.1055A>C (p.Ter352Ser) c.998A>C (p.Ter333Ser) c.764A>C (p.Ter255Ser) c.1133A>C (p.Ter378Ser) | |
| 1 | g.229431501A= | CA1226125358 | ACTA1 | c.1054T= (p.Ter352=) c.997T= (p.Ter333=) c.763T= (p.Ter255=) c.1132T= (p.Ter378=) | |
| 1 | g.229431501A>C | CA345144027 | ACTA1 | c.1054T>G (p.Ter352Glu) c.997T>G (p.Ter333Glu) c.763T>G (p.Ter255Glu) c.1132T>G (p.Ter378Glu) | |
| 1 | g.229431501A>G | CA345144029 | ACTA1 | c.1054T>C (p.Ter352Gln) c.997T>C (p.Ter333Gln) c.763T>C (p.Ter255Gln) c.1132T>C (p.Ter378Gln) | ClinVar dbSNP |
| 1 | g.229431501A>T | CA345144034 | ACTA1 | c.1054T>A (p.Ter352Lys) c.997T>A (p.Ter333Lys) c.763T>A (p.Ter255Lys) c.1132T>A (p.Ter378Lys) | |
| 1 | g.229431502G>A | CA423754784 | ACTA1 | c.1053C>T (p.Phe351=) c.996C>T (p.Phe332=) c.762C>T (p.Phe254=) c.1131C>T (p.Phe377=) | |
| 1 | g.229431502G>C | CA345144037 | ACTA1 | c.1053C>G (p.Phe351Leu) c.996C>G (p.Phe332Leu) c.762C>G (p.Phe254Leu) c.1131C>G (p.Phe377Leu) | |
| 1 | g.229431502G>T | CA345144040 | ACTA1 | c.1053C>A (p.Phe351Leu) c.996C>A (p.Phe332Leu) c.762C>A (p.Phe254Leu) c.1131C>A (p.Phe377Leu) | |
| 1 | g.229431503A= | CA1226125359 | ACTA1 | c.1052T= (p.Phe351=) c.995T= (p.Phe332=) c.761T= (p.Phe254=) c.1130T= (p.Phe377=) | |
| 1 | g.229431503A>C | CA345144043 | ACTA1 | c.1052T>G (p.Phe351Cys) c.995T>G (p.Phe332Cys) c.761T>G (p.Phe254Cys) c.1130T>G (p.Phe377Cys) | |
| 1 | g.229431503A>G | CA345144046 | ACTA1 | c.1052T>C (p.Phe351Ser) c.995T>C (p.Phe332Ser) c.761T>C (p.Phe254Ser) c.1130T>C (p.Phe377Ser) | ClinVar dbSNP |
| 1 | g.229431503A>T | CA345144055 | ACTA1 | c.1052T>A (p.Phe351Tyr) c.995T>A (p.Phe332Tyr) c.761T>A (p.Phe254Tyr) c.1130T>A (p.Phe377Tyr) | |
| 1 | g.229431504A>C | CA345144059 | ACTA1 | c.1051T>G (p.Phe351Val) c.994T>G (p.Phe332Val) c.760T>G (p.Phe254Val) c.1129T>G (p.Phe377Val) | |
| 1 | g.229431504A>G | CA345144062 | ACTA1 | c.1051T>C (p.Phe351Leu) c.994T>C (p.Phe332Leu) c.760T>C (p.Phe254Leu) c.1129T>C (p.Phe377Leu) | gnomAD v4 |
| 1 | g.229431504A>T | CA345144065 | ACTA1 | c.1051T>A (p.Phe351Ile) c.994T>A (p.Phe332Ile) c.760T>A (p.Phe254Ile) c.1129T>A (p.Phe377Ile) | |
| 1 | g.229431505G>A | CA423754785 | ACTA1 | c.1050C>T (p.Cys350=) c.993C>T (p.Cys331=) c.759C>T (p.Cys253=) c.1128C>T (p.Cys376=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.229431505G>C | CA345144067 | ACTA1 | c.1050C>G (p.Cys350Trp) c.993C>G (p.Cys331Trp) c.759C>G (p.Cys253Trp) c.1128C>G (p.Cys376Trp) | |
| 1 | g.229431505G= | CA1226125360 | ACTA1 | c.1050C= (p.Cys350=) c.993C= (p.Cys331=) c.759C= (p.Cys253=) c.1128C= (p.Cys376=) | |
| 1 | g.229431505G>T | CA345144070 | ACTA1 | c.1050C>A (p.Cys350Ter) c.993C>A (p.Cys331Ter) c.759C>A (p.Cys253Ter) c.1128C>A (p.Cys376Ter) | |
| 1 | g.229431506C>A | CA345144073 | ACTA1 | c.1049G>T (p.Cys350Phe) c.992G>T (p.Cys331Phe) c.758G>T (p.Cys253Phe) c.1127G>T (p.Cys376Phe) | ClinVar dbSNP |
| 1 | g.229431506C= | CA1226125361 | ACTA1 | c.1049G= (p.Cys350=) c.992G= (p.Cys331=) c.758G= (p.Cys253=) c.1127G= (p.Cys376=) | |
| 1 | g.229431506C>G | CA345144077 | ACTA1 | c.1049G>C (p.Cys350Ser) c.992G>C (p.Cys331Ser) c.758G>C (p.Cys253Ser) c.1127G>C (p.Cys376Ser) | |
| 1 | g.229431506C>T | CA345144079 | ACTA1 | c.1049G>A (p.Cys350Tyr) c.992G>A (p.Cys331Tyr) c.758G>A (p.Cys253Tyr) c.1127G>A (p.Cys376Tyr) | ClinVar |
| 1 | g.229431507A>C | CA345144089 | ACTA1 | c.1048T>G (p.Cys350Gly) c.991T>G (p.Cys331Gly) c.757T>G (p.Cys253Gly) c.1126T>G (p.Cys376Gly) | |
| 1 | g.229431507A>G | CA345144086 | ACTA1 | c.1048T>C (p.Cys350Arg) c.991T>C (p.Cys331Arg) c.757T>C (p.Cys253Arg) c.1126T>C (p.Cys376Arg) | |
| 1 | g.229431507A>T | CA345144083 | ACTA1 | c.1048T>A (p.Cys350Ser) c.991T>A (p.Cys331Ser) c.757T>A (p.Cys253Ser) c.1126T>A (p.Cys376Ser) | |
| 1 | g.229431508T>A | CA345144090 | ACTA1 | c.1047A>T (p.Lys349Asn) c.990A>T (p.Lys330Asn) c.756A>T (p.Lys252Asn) c.1125A>T (p.Lys375Asn) | |
| 1 | g.229431508T>C | CA1442703 | ACTA1 | c.1047A>G (p.Lys349=) c.990A>G (p.Lys330=) c.756A>G (p.Lys252=) c.1125A>G (p.Lys375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431508T>G | CA345144091 | ACTA1 | c.1047A>C (p.Lys349Asn) c.990A>C (p.Lys330Asn) c.756A>C (p.Lys252Asn) c.1125A>C (p.Lys375Asn) | ClinVar |
| 1 | g.229431508T= | CA1141859131 | ACTA1 | c.1047A= (p.Lys349=) c.990A= (p.Lys330=) c.756A= (p.Lys252=) c.1125A= (p.Lys375=) | |
| 1 | g.229431509T>A | CA345144093 | ACTA1 | c.1046A>T (p.Lys349Ile) c.989A>T (p.Lys330Ile) c.755A>T (p.Lys252Ile) c.1124A>T (p.Lys375Ile) | |
| 1 | g.229431509T>C | CA345144095 | ACTA1 | c.1046A>G (p.Lys349Arg) c.989A>G (p.Lys330Arg) c.755A>G (p.Lys252Arg) c.1124A>G (p.Lys375Arg) | |
| 1 | g.229431509T>G | CA345144097 | ACTA1 | c.1046A>C (p.Lys349Thr) c.989A>C (p.Lys330Thr) c.755A>C (p.Lys252Thr) c.1124A>C (p.Lys375Thr) | |
| 1 | g.229431510T>A | CA345144101 | ACTA1 | c.1045A>T (p.Lys349Ter) c.988A>T (p.Lys330Ter) c.754A>T (p.Lys252Ter) c.1123A>T (p.Lys375Ter) | |
| 1 | g.229431510T>C | CA345144104 | ACTA1 | c.1045A>G (p.Lys349Glu) c.988A>G (p.Lys330Glu) c.754A>G (p.Lys252Glu) c.1123A>G (p.Lys375Glu) | ClinVar dbSNP |
| 1 | g.229431510T>G | CA345144106 | ACTA1 | c.1045A>C (p.Lys349Gln) c.988A>C (p.Lys330Gln) c.754A>C (p.Lys252Gln) c.1123A>C (p.Lys375Gln) | |
| 1 | g.229431510T= | CA1226125362 | ACTA1 | c.1045A= (p.Lys349=) c.988A= (p.Lys330=) c.754A= (p.Lys252=) c.1123A= (p.Lys375=) | |
| 1 | g.229431510_229431534del | CA645538675 | ACTA1 | c.1021_1045del (p.Ala341AsnfsTer?) c.964_988del (p.Ala322AsnfsTer?) c.730_754del (p.Ala244AsnfsTer?) c.1099_1123del (p.Ala367AsnfsTer?) | COSMIC |
| 1 | g.229431511G>A | CA423754786 | ACTA1 | c.1044C>T (p.Arg348=) c.987C>T (p.Arg329=) c.753C>T (p.Arg251=) c.1122C>T (p.Arg374=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431511G>C | CA423754787 | ACTA1 | c.1044C>G (p.Arg348=) c.987C>G (p.Arg329=) c.753C>G (p.Arg251=) c.1122C>G (p.Arg374=) | |
| 1 | g.229431511G= | CA1226125363 | ACTA1 | c.1044C= (p.Arg348=) c.987C= (p.Arg329=) c.753C= (p.Arg251=) c.1122C= (p.Arg374=) | |
| 1 | g.229431511G>T | CA423754788 | ACTA1 | c.1044C>A (p.Arg348=) c.987C>A (p.Arg329=) c.753C>A (p.Arg251=) c.1122C>A (p.Arg374=) | |
| 1 | g.229431512C>A | CA345144114 | ACTA1 | c.1043G>T (p.Arg348Leu) c.986G>T (p.Arg329Leu) c.752G>T (p.Arg251Leu) c.1121G>T (p.Arg374Leu) | |
| 1 | g.229431512C>G | CA345144109 | ACTA1 | c.1043G>C (p.Arg348Pro) c.986G>C (p.Arg329Pro) c.752G>C (p.Arg251Pro) c.1121G>C (p.Arg374Pro) | |
| 1 | g.229431512C>T | CA345144111 | ACTA1 | c.1043G>A (p.Arg348His) c.986G>A (p.Arg329His) c.752G>A (p.Arg251His) c.1121G>A (p.Arg374His) | |
| 1 | g.229431513G>A | CA345144117 | ACTA1 | c.1042C>T (p.Arg348Cys) c.985C>T (p.Arg329Cys) c.751C>T (p.Arg251Cys) c.1120C>T (p.Arg374Cys) | |
| 1 | g.229431513G>C | CA345144120 | ACTA1 | c.1042C>G (p.Arg348Gly) c.985C>G (p.Arg329Gly) c.751C>G (p.Arg251Gly) c.1120C>G (p.Arg374Gly) | |
| 1 | g.229431513G>T | CA345144121 | ACTA1 | c.1042C>A (p.Arg348Ser) c.985C>A (p.Arg329Ser) c.751C>A (p.Arg251Ser) c.1120C>A (p.Arg374Ser) | |
| 1 | g.229431514G>A | CA423754789 | ACTA1 | c.1041C>T (p.His347=) c.984C>T (p.His328=) c.750C>T (p.His250=) c.1119C>T (p.His373=) | |
| 1 | g.229431514G>C | CA345144122 | ACTA1 | c.1041C>G (p.His347Gln) c.984C>G (p.His328Gln) c.750C>G (p.His250Gln) c.1119C>G (p.His373Gln) | ClinVar |
| 1 | g.229431514G>T | CA345144123 | ACTA1 | c.1041C>A (p.His347Gln) c.984C>A (p.His328Gln) c.750C>A (p.His250Gln) c.1119C>A (p.His373Gln) | |
| 1 | g.229431515T>A | CA345144126 | ACTA1 | c.1040A>T (p.His347Leu) c.983A>T (p.His328Leu) c.749A>T (p.His250Leu) c.1118A>T (p.His373Leu) | |
| 1 | g.229431515T>C | CA16609331 | ACTA1 | c.1040A>G (p.His347Arg) c.983A>G (p.His328Arg) c.749A>G (p.His250Arg) c.1118A>G (p.His373Arg) | |
| 1 | g.229431515T>G | CA345144124 | ACTA1 | c.1040A>C (p.His347Pro) c.983A>C (p.His328Pro) c.749A>C (p.His250Pro) c.1118A>C (p.His373Pro) |