| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 1 | g.229431516G>A | CA345144130 | ACTA1 | c.1039C>T (p.His347Tyr) c.982C>T (p.His328Tyr) c.748C>T (p.His250Tyr) c.1117C>T (p.His373Tyr) | |
| 1 | g.229431516G>C | CA345144134 | ACTA1 | c.1039C>G (p.His347Asp) c.982C>G (p.His328Asp) c.748C>G (p.His250Asp) c.1117C>G (p.His373Asp) | |
| 1 | g.229431516G>T | CA345144137 | ACTA1 | c.1039C>A (p.His347Asn) c.982C>A (p.His328Asn) c.748C>A (p.His250Asn) c.1117C>A (p.His373Asn) | |
| 1 | g.229431517G>A | CA423754790 | ACTA1 | c.1038C>T (p.Val346=) c.981C>T (p.Val327=) c.747C>T (p.Val249=) c.1116C>T (p.Val372=) | |
| 1 | g.229431517G>C | CA423754791 | ACTA1 | c.1038C>G (p.Val346=) c.981C>G (p.Val327=) c.747C>G (p.Val249=) c.1116C>G (p.Val372=) | dbSNP |
| 1 | g.229431517G= | CA1226125364 | ACTA1 | c.1038C= (p.Val346=) c.981C= (p.Val327=) c.747C= (p.Val249=) c.1116C= (p.Val372=) | |
| 1 | g.229431517G>T | CA423754792 | ACTA1 | c.1038C>A (p.Val346=) c.981C>A (p.Val327=) c.747C>A (p.Val249=) c.1116C>A (p.Val372=) | |
| 1 | g.229431518A>C | CA345144140 | ACTA1 | c.1037T>G (p.Val346Gly) c.980T>G (p.Val327Gly) c.746T>G (p.Val249Gly) c.1115T>G (p.Val372Gly) | |
| 1 | g.229431518A>G | CA345144144 | ACTA1 | c.1037T>C (p.Val346Ala) c.980T>C (p.Val327Ala) c.746T>C (p.Val249Ala) c.1115T>C (p.Val372Ala) | |
| 1 | g.229431518A>T | CA345144147 | ACTA1 | c.1037T>A (p.Val346Asp) c.980T>A (p.Val327Asp) c.746T>A (p.Val249Asp) c.1115T>A (p.Val372Asp) | |
| 1 | g.229431519C>A | CA345144152 | ACTA1 | c.1036G>T (p.Val346Phe) c.979G>T (p.Val327Phe) c.745G>T (p.Val249Phe) c.1114G>T (p.Val372Phe) | |
| 1 | g.229431519C>G | CA345144154 | ACTA1 | c.1036G>C (p.Val346Leu) c.979G>C (p.Val327Leu) c.745G>C (p.Val249Leu) c.1114G>C (p.Val372Leu) | |
| 1 | g.229431519C>T | CA345144157 | ACTA1 | c.1036G>A (p.Val346Ile) c.979G>A (p.Val327Ile) c.745G>A (p.Val249Ile) c.1114G>A (p.Val372Ile) | |
| 1 | g.229431520G>A | CA423754793 | ACTA1 | c.1035C>T (p.Ile345=) c.978C>T (p.Ile326=) c.744C>T (p.Ile248=) c.1113C>T (p.Ile371=) | dbSNP |
| 1 | g.229431520G>C | CA10609268 | ACTA1 | c.1035C>G (p.Ile345Met) c.978C>G (p.Ile326Met) c.744C>G (p.Ile248Met) c.1113C>G (p.Ile371Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431520G= | CA1226125365 | ACTA1 | c.1035C= (p.Ile345=) c.978C= (p.Ile326=) c.744C= (p.Ile248=) c.1113C= (p.Ile371=) | |
| 1 | g.229431520G>T | CA423754794 | ACTA1 | c.1035C>A (p.Ile345=) c.978C>A (p.Ile326=) c.744C>A (p.Ile248=) c.1113C>A (p.Ile371=) | |
| 1 | g.229431521A= | CA1226125366 | ACTA1 | c.1034T= (p.Ile345=) c.977T= (p.Ile326=) c.743T= (p.Ile248=) c.1112T= (p.Ile371=) | |
| 1 | g.229431521A>C | CA345144163 | ACTA1 | c.1034T>G (p.Ile345Ser) c.977T>G (p.Ile326Ser) c.743T>G (p.Ile248Ser) c.1112T>G (p.Ile371Ser) | |
| 1 | g.229431521A>G | CA345144165 | ACTA1 | c.1034T>C (p.Ile345Thr) c.977T>C (p.Ile326Thr) c.743T>C (p.Ile248Thr) c.1112T>C (p.Ile371Thr) | dbSNP |
| 1 | g.229431521A>T | CA345144170 | ACTA1 | c.1034T>A (p.Ile345Asn) c.977T>A (p.Ile326Asn) c.743T>A (p.Ile248Asn) c.1112T>A (p.Ile371Asn) | |
| 1 | g.229431522T>A | CA345144172 | ACTA1 | c.1033A>T (p.Ile345Phe) c.976A>T (p.Ile326Phe) c.742A>T (p.Ile248Phe) c.1111A>T (p.Ile371Phe) | |
| 1 | g.229431522T>C | CA345144178 | ACTA1 | c.1033A>G (p.Ile345Val) c.976A>G (p.Ile326Val) c.742A>G (p.Ile248Val) c.1111A>G (p.Ile371Val) | |
| 1 | g.229431522T>G | CA345144174 | ACTA1 | c.1033A>C (p.Ile345Leu) c.976A>C (p.Ile326Leu) c.742A>C (p.Ile248Leu) c.1111A>C (p.Ile371Leu) | |
| 1 | g.229431523G>A | CA423754799 | ACTA1 | c.1032C>T (p.Ser344=) c.975C>T (p.Ser325=) c.741C>T (p.Ser247=) c.1110C>T (p.Ser370=) | |
| 1 | g.229431523G>C | CA423754801 | ACTA1 | c.1032C>G (p.Ser344=) c.975C>G (p.Ser325=) c.741C>G (p.Ser247=) c.1110C>G (p.Ser370=) | |
| 1 | g.229431523G>T | CA423754802 | ACTA1 | c.1032C>A (p.Ser344=) c.975C>A (p.Ser325=) c.741C>A (p.Ser247=) c.1110C>A (p.Ser370=) | |
| 1 | g.229431524G>A | CA345144180 | ACTA1 | c.1031C>T (p.Ser344Phe) c.974C>T (p.Ser325Phe) c.740C>T (p.Ser247Phe) c.1109C>T (p.Ser370Phe) | |
| 1 | g.229431524G>C | CA345144186 | ACTA1 | c.1031C>G (p.Ser344Cys) c.974C>G (p.Ser325Cys) c.740C>G (p.Ser247Cys) c.1109C>G (p.Ser370Cys) | |
| 1 | g.229431524G= | CA1226125367 | ACTA1 | c.1031C= (p.Ser344=) c.974C= (p.Ser325=) c.740C= (p.Ser247=) c.1109C= (p.Ser370=) | |
| 1 | g.229431524G>T | CA345144188 | ACTA1 | c.1031C>A (p.Ser344Tyr) c.974C>A (p.Ser325Tyr) c.740C>A (p.Ser247Tyr) c.1109C>A (p.Ser370Tyr) | ClinVar dbSNP COSMIC |
| 1 | g.229431525A>C | CA345144192 | ACTA1 | c.1030T>G (p.Ser344Ala) c.973T>G (p.Ser325Ala) c.739T>G (p.Ser247Ala) c.1108T>G (p.Ser370Ala) | |
| 1 | g.229431525A>G | CA345144194 | ACTA1 | c.1030T>C (p.Ser344Pro) c.973T>C (p.Ser325Pro) c.739T>C (p.Ser247Pro) c.1108T>C (p.Ser370Pro) | |
| 1 | g.229431525A>T | CA345144196 | ACTA1 | c.1030T>A (p.Ser344Thr) c.973T>A (p.Ser325Thr) c.739T>A (p.Ser247Thr) c.1108T>A (p.Ser370Thr) | |
| 1 | g.229431526A= | CA1226125368 | ACTA1 | c.1029T= (p.Pro343=) c.972T= (p.Pro324=) c.738T= (p.Pro246=) c.1107T= (p.Pro369=) | |
| 1 | g.229431526A>C | CA1442704 | ACTA1 | c.1029T>G (p.Pro343=) c.972T>G (p.Pro324=) c.738T>G (p.Pro246=) c.1107T>G (p.Pro369=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229431526A>G | CA423754803 | ACTA1 | c.1029T>C (p.Pro343=) c.972T>C (p.Pro324=) c.738T>C (p.Pro246=) c.1107T>C (p.Pro369=) | dbSNP |
| 1 | g.229431526A>T | CA423754804 | ACTA1 | c.1029T>A (p.Pro343=) c.972T>A (p.Pro324=) c.738T>A (p.Pro246=) c.1107T>A (p.Pro369=) | |
| 1 | g.229431527G>A | CA345144203 | ACTA1 | c.1028C>T (p.Pro343Leu) c.971C>T (p.Pro324Leu) c.737C>T (p.Pro246Leu) c.1106C>T (p.Pro369Leu) | ClinVar dbSNP |
| 1 | g.229431527G>C | CA345144212 | ACTA1 | c.1028C>G (p.Pro343Arg) c.971C>G (p.Pro324Arg) c.737C>G (p.Pro246Arg) c.1106C>G (p.Pro369Arg) | |
| 1 | g.229431527G= | CA1226125369 | ACTA1 | c.1028C= (p.Pro343=) c.971C= (p.Pro324=) c.737C= (p.Pro246=) c.1106C= (p.Pro369=) | |
| 1 | g.229431527G>T | CA345144215 | ACTA1 | c.1028C>A (p.Pro343His) c.971C>A (p.Pro324His) c.737C>A (p.Pro246His) c.1106C>A (p.Pro369His) | ClinVar |
| 1 | g.229431528G>A | CA345144216 | ACTA1 | c.1027C>T (p.Pro343Ser) c.970C>T (p.Pro324Ser) c.736C>T (p.Pro246Ser) c.1105C>T (p.Pro369Ser) | |
| 1 | g.229431528G>C | CA345144217 | ACTA1 | c.1027C>G (p.Pro343Ala) c.970C>G (p.Pro324Ala) c.736C>G (p.Pro246Ala) c.1105C>G (p.Pro369Ala) | |
| 1 | g.229431528G>T | CA345144218 | ACTA1 | c.1027C>A (p.Pro343Thr) c.970C>A (p.Pro324Thr) c.736C>A (p.Pro246Thr) c.1105C>A (p.Pro369Thr) | |
| 1 | g.229431529G>A | CA1442705 | ACTA1 | c.1026C>T (p.Gly342=) c.969C>T (p.Gly323=) c.735C>T (p.Gly245=) c.1104C>T (p.Gly368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229431529G>C | CA423754807 | ACTA1 | c.1026C>G (p.Gly342=) c.969C>G (p.Gly323=) c.735C>G (p.Gly245=) c.1104C>G (p.Gly368=) | dbSNP |
| 1 | g.229431529G= | CA1226125370 | ACTA1 | c.1026C= (p.Gly342=) c.969C= (p.Gly323=) c.735C= (p.Gly245=) c.1104C= (p.Gly368=) | |
| 1 | g.229431529G>T | CA423754806 | ACTA1 | c.1026C>A (p.Gly342=) c.969C>A (p.Gly323=) c.735C>A (p.Gly245=) c.1104C>A (p.Gly368=) | |
| 1 | g.229431530C>A | CA345144221 | ACTA1 | c.1025G>T (p.Gly342Val) c.968G>T (p.Gly323Val) c.734G>T (p.Gly245Val) c.1103G>T (p.Gly368Val) | |
| 1 | g.229431530C>G | CA345144224 | ACTA1 | c.1025G>C (p.Gly342Ala) c.968G>C (p.Gly323Ala) c.734G>C (p.Gly245Ala) c.1103G>C (p.Gly368Ala) | COSMIC |
| 1 | g.229431530C>T | CA345144226 | ACTA1 | c.1025G>A (p.Gly342Asp) c.968G>A (p.Gly323Asp) c.734G>A (p.Gly245Asp) c.1103G>A (p.Gly368Asp) | |
| 1 | g.229431531C>A | CA345144227 | ACTA1 | c.1024G>T (p.Gly342Cys) c.967G>T (p.Gly323Cys) c.733G>T (p.Gly245Cys) c.1102G>T (p.Gly368Cys) | |
| 1 | g.229431531C>G | CA345144229 | ACTA1 | c.1024G>C (p.Gly342Arg) c.967G>C (p.Gly323Arg) c.733G>C (p.Gly245Arg) c.1102G>C (p.Gly368Arg) | |
| 1 | g.229431531C>T | CA345144231 | ACTA1 | c.1024G>A (p.Gly342Ser) c.967G>A (p.Gly323Ser) c.733G>A (p.Gly245Ser) c.1102G>A (p.Gly368Ser) | COSMIC |
| 1 | g.229431532G>A | CA1442706 | ACTA1 | c.1023C>T (p.Ala341=) c.966C>T (p.Ala322=) c.732C>T (p.Ala244=) c.1101C>T (p.Ala367=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.229431532G>C | CA423754809 | ACTA1 | c.1023C>G (p.Ala341=) c.966C>G (p.Ala322=) c.732C>G (p.Ala244=) c.1101C>G (p.Ala367=) | |
| 1 | g.229431532G= | CA1226125371 | ACTA1 | c.1023C= (p.Ala341=) c.966C= (p.Ala322=) c.732C= (p.Ala244=) c.1101C= (p.Ala367=) | |
| 1 | g.229431532G>T | CA423754808 | ACTA1 | c.1023C>A (p.Ala341=) c.966C>A (p.Ala322=) c.732C>A (p.Ala244=) c.1101C>A (p.Ala367=) | |
| 1 | g.229431533G>A | CA345144235 | ACTA1 | c.1022C>T (p.Ala341Val) c.965C>T (p.Ala322Val) c.731C>T (p.Ala244Val) c.1100C>T (p.Ala367Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431533G>C | CA345144238 | ACTA1 | c.1022C>G (p.Ala341Gly) c.965C>G (p.Ala322Gly) c.731C>G (p.Ala244Gly) c.1100C>G (p.Ala367Gly) | |
| 1 | g.229431533G= | CA1226125372 | ACTA1 | c.1022C= (p.Ala341=) c.965C= (p.Ala322=) c.731C= (p.Ala244=) c.1100C= (p.Ala367=) | |
| 1 | g.229431533G>T | CA345144241 | ACTA1 | c.1022C>A (p.Ala341Asp) c.965C>A (p.Ala322Asp) c.731C>A (p.Ala244Asp) c.1100C>A (p.Ala367Asp) | |
| 1 | g.229431534C>A | CA345144244 | ACTA1 | c.1021G>T (p.Ala341Ser) c.964G>T (p.Ala322Ser) c.730G>T (p.Ala244Ser) c.1099G>T (p.Ala367Ser) | COSMIC |
| 1 | g.229431534C= | CA1226125373 | ACTA1 | c.1021G= (p.Ala341=) c.964G= (p.Ala322=) c.730G= (p.Ala244=) c.1099G= (p.Ala367=) | |
| 1 | g.229431534C>G | CA345144245 | ACTA1 | c.1021G>C (p.Ala341Pro) c.964G>C (p.Ala322Pro) c.730G>C (p.Ala244Pro) c.1099G>C (p.Ala367Pro) | |
| 1 | g.229431534C>T | CA345144246 | ACTA1 | c.1021G>A (p.Ala341Thr) c.964G>A (p.Ala322Thr) c.730G>A (p.Ala244Thr) c.1099G>A (p.Ala367Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431535C>A | CA345144250 | ACTA1 | c.1020G>T (p.Glu340Asp) c.963G>T (p.Glu321Asp) c.729G>T (p.Glu243Asp) c.1098G>T (p.Glu366Asp) | |
| 1 | g.229431535C= | CA1226125374 | ACTA1 | c.1020G= (p.Glu340=) c.963G= (p.Glu321=) c.729G= (p.Glu243=) c.1098G= (p.Glu366=) | |
| 1 | g.229431535C>G | CA345144253 | ACTA1 | c.1020G>C (p.Glu340Asp) c.963G>C (p.Glu321Asp) c.729G>C (p.Glu243Asp) c.1098G>C (p.Glu366Asp) | |
| 1 | g.229431535C>T | CA423754814 | ACTA1 | c.1020G>A (p.Glu340=) c.963G>A (p.Glu321=) c.729G>A (p.Glu243=) c.1098G>A (p.Glu366=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431536T>A | CA345144256 | ACTA1 | c.1019A>T (p.Glu340Val) c.962A>T (p.Glu321Val) c.728A>T (p.Glu243Val) c.1097A>T (p.Glu366Val) | |
| 1 | g.229431536T>C | CA345144260 | ACTA1 | c.1019A>G (p.Glu340Gly) c.962A>G (p.Glu321Gly) c.728A>G (p.Glu243Gly) c.1097A>G (p.Glu366Gly) | |
| 1 | g.229431536T>G | CA345144258 | ACTA1 | c.1019A>C (p.Glu340Ala) c.962A>C (p.Glu321Ala) c.728A>C (p.Glu243Ala) c.1097A>C (p.Glu366Ala) | |
| 1 | g.229431537C>A | CA345144265 | ACTA1 | c.1018G>T (p.Glu340Ter) c.961G>T (p.Glu321Ter) c.727G>T (p.Glu243Ter) c.1096G>T (p.Glu366Ter) | |
| 1 | g.229431537C>G | CA345144268 | ACTA1 | c.1018G>C (p.Glu340Gln) c.961G>C (p.Glu321Gln) c.727G>C (p.Glu243Gln) c.1096G>C (p.Glu366Gln) | |
| 1 | g.229431537C>T | CA345144270 | ACTA1 | c.1018G>A (p.Glu340Lys) c.961G>A (p.Glu321Lys) c.727G>A (p.Glu243Lys) c.1096G>A (p.Glu366Lys) | |
| 1 | g.229431538G>A | CA1442708 | ACTA1 | c.1017C>T (p.Asp339=) c.960C>T (p.Asp320=) c.726C>T (p.Asp242=) c.1095C>T (p.Asp365=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229431538G>C | CA1442707 | ACTA1 | c.1017C>G (p.Asp339Glu) c.960C>G (p.Asp320Glu) c.726C>G (p.Asp242Glu) c.1095C>G (p.Asp365Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229431538G= | CA1143959170 | ACTA1 | c.1017C= (p.Asp339=) c.960C= (p.Asp320=) c.726C= (p.Asp242=) c.1095C= (p.Asp365=) | |
| 1 | g.229431538G>T | CA345144280 | ACTA1 | c.1017C>A (p.Asp339Glu) c.960C>A (p.Asp320Glu) c.726C>A (p.Asp242Glu) c.1095C>A (p.Asp365Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431539T>A | CA345144283 | ACTA1 | c.1016A>T (p.Asp339Val) c.959A>T (p.Asp320Val) c.725A>T (p.Asp242Val) c.1094A>T (p.Asp365Val) | |
| 1 | g.229431539T>C | CA345144285 | ACTA1 | c.1016A>G (p.Asp339Gly) c.959A>G (p.Asp320Gly) c.725A>G (p.Asp242Gly) c.1094A>G (p.Asp365Gly) | |
| 1 | g.229431539T>G | CA345144287 | ACTA1 | c.1016A>C (p.Asp339Ala) c.959A>C (p.Asp320Ala) c.725A>C (p.Asp242Ala) c.1094A>C (p.Asp365Ala) | |
| 1 | g.229431540del | CA2698259255 | ACTA1 | c.1015del (p.Asp339ThrfsTer?) c.958del (p.Asp320ThrfsTer?) c.724del (p.Asp242ThrfsTer?) c.1093del (p.Asp365ThrfsTer?) | dbSNP |
| 1 | g.229431540C>A | CA345144291 | ACTA1 | c.1015G>T (p.Asp339Tyr) c.958G>T (p.Asp320Tyr) c.724G>T (p.Asp242Tyr) c.1093G>T (p.Asp365Tyr) | |
| 1 | g.229431540C>G | CA345144294 | ACTA1 | c.1015G>C (p.Asp339His) c.958G>C (p.Asp320His) c.724G>C (p.Asp242His) c.1093G>C (p.Asp365His) | |
| 1 | g.229431540C>T | CA345144297 | ACTA1 | c.1015G>A (p.Asp339Asn) c.958G>A (p.Asp320Asn) c.724G>A (p.Asp242Asn) c.1093G>A (p.Asp365Asn) | |
| 1 | g.229431540dup | CA2650926579 | ACTA1 | c.1015dup (p.Asp339GlyfsTer?) c.958dup (p.Asp320GlyfsTer?) c.724dup (p.Asp242GlyfsTer?) c.1093dup (p.Asp365GlyfsTer?) | gnomAD v4 |
| 1 | g.229431541del | CA915940544 | ACTA1 | c.1014del (p.Tyr338Ter) c.957del (p.Tyr319Ter) c.723del (p.Tyr241Ter) c.1092del (p.Tyr364Ter) | |
| 1 | g.229431541G>A | CA38814650 | ACTA1 | c.1014C>T (p.Tyr338=) c.957C>T (p.Tyr319=) c.723C>T (p.Tyr241=) c.1092C>T (p.Tyr364=) | dbSNP gnomAD v4 |
| 1 | g.229431541G>C | CA345144302 | ACTA1 | c.1014C>G (p.Tyr338Ter) c.957C>G (p.Tyr319Ter) c.723C>G (p.Tyr241Ter) c.1092C>G (p.Tyr364Ter) | dbSNP |
| 1 | g.229431541G= | CA1226125375 | ACTA1 | c.1014C= (p.Tyr338=) c.957C= (p.Tyr319=) c.723C= (p.Tyr241=) c.1092C= (p.Tyr364=) | |
| 1 | g.229431541G>T | CA345144306 | ACTA1 | c.1014C>A (p.Tyr338Ter) c.957C>A (p.Tyr319Ter) c.723C>A (p.Tyr241Ter) c.1092C>A (p.Tyr364Ter) |