| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431201C>A | CA2650926384 | ACTA1 | c.*298G>T (n.*298G>T) | gnomAD v4 |
| 1 | g.229431202del | CA2650926385 | ACTA1 | c.*297del (n.*297del) | gnomAD v4 |
| 1 | g.229431203C>A | CA2650926386 | ACTA1 | c.*296G>T (n.*296G>T) | gnomAD v4 |
| 1 | g.229431203C= | CA1226125180 | ACTA1 | c.*296G= (n.*296G=) | |
| 1 | g.229431203C>T | CA732579022 | ACTA1 | c.*296G>A (n.*296G>A) | dbSNP gnomAD v4 |
| 1 | g.229431204T>A | CA38814478 | ACTA1 | c.*295A>T (n.*295A>T) | dbSNP |
| 1 | g.229431204T= | CA1226125181 | ACTA1 | c.*295A= (n.*295A=) | |
| 1 | g.229431205T>C | CA1226125183 | ACTA1 | c.*294A>G (n.*294A>G) | dbSNP |
| 1 | g.229431205T= | CA1226125182 | ACTA1 | c.*294A= (n.*294A=) | |
| 1 | g.229431207C= | CA1226125184 | ACTA1 | c.*292G= (n.*292G=) | |
| 1 | g.229431207C>T | CA732579030 | ACTA1 | c.*292G>A (n.*292G>A) | dbSNP gnomAD v4 |
| 1 | g.229431208T>C | CA2650926387 | ACTA1 | c.*291A>G (n.*291A>G) | gnomAD v4 |
| 1 | g.229431209G>A | CA2650926388 | ACTA1 | c.*290C>T (n.*290C>T) | gnomAD v4 |
| 1 | g.229431209G>T | CA2650926389 | ACTA1 | c.*290C>A (n.*290C>A) | gnomAD v4 |
| 1 | g.229431210C>A | CA2650926390 | ACTA1 | c.*289G>T (n.*289G>T) | gnomAD v4 |
| 1 | g.229431210C= | CA1226125185 | ACTA1 | c.*289G= (n.*289G=) | |
| 1 | g.229431210C>T | CA38814480 | ACTA1 | c.*289G>A (n.*289G>A) | dbSNP gnomAD v4 |
| 1 | g.229431211T>C | CA2650926392 | ACTA1 | c.*288A>G (n.*288A>G) | gnomAD v4 |
| 1 | g.229431211_229431214dup | CA2650926391 | ACTA1 | c.*285_*288dup (n.*285_*288dup) | gnomAD v4 |
| 1 | g.229431212C>A | CA2650926393 | ACTA1 | c.*287G>T (n.*287G>T) | gnomAD v4 |
| 1 | g.229431212C>G | CA2650926394 | ACTA1 | c.*287G>C (n.*287G>C) | gnomAD v4 |
| 1 | g.229431212C>T | CA2650926395 | ACTA1 | c.*287G>A (n.*287G>A) | gnomAD v4 |
| 1 | g.229431213C>A | CA2650926396 | ACTA1 | c.*286G>T (n.*286G>T) | gnomAD v4 |
| 1 | g.229431213C>T | CA2650926397 | ACTA1 | c.*286G>A (n.*286G>A) | gnomAD v4 |
| 1 | g.229431214A>T | CA2650926398 | ACTA1 | c.*285T>A (n.*285T>A) | gnomAD v4 |
| 1 | g.229431215C>A | CA2650926399 | ACTA1 | c.*284G>T (n.*284G>T) | gnomAD v4 |
| 1 | g.229431215C= | CA1226125186 | ACTA1 | c.*284G= (n.*284G=) | |
| 1 | g.229431215C>T | CA529656397 | ACTA1 | c.*284G>A (n.*284G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431217C>A | CA529656399 | ACTA1 | c.*282G>T (n.*282G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431217C= | CA1226125187 | ACTA1 | c.*282G= (n.*282G=) | |
| 1 | g.229431217C>T | CA2650926400 | ACTA1 | c.*282G>A (n.*282G>A) | gnomAD v4 |
| 1 | g.229431218C>A | CA2650926401 | ACTA1 | c.*281G>T (n.*281G>T) | gnomAD v4 |
| 1 | g.229431218C>T | CA2650926402 | ACTA1 | c.*281G>A (n.*281G>A) | gnomAD v4 |
| 1 | g.229431219C>A | CA38814482 | ACTA1 | c.*280G>T (n.*280G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431219C= | CA1226125188 | ACTA1 | c.*280G= (n.*280G=) | |
| 1 | g.229431219C>T | CA2650926403 | ACTA1 | c.*280G>A (n.*280G>A) | gnomAD v4 |
| 1 | g.229431220G>A | CA2650926404 | ACTA1 | c.*279C>T (n.*279C>T) | gnomAD v4 |
| 1 | g.229431220G= | CA1226125189 | ACTA1 | c.*279C= (n.*279C=) | |
| 1 | g.229431220G>T | CA646467674 | ACTA1 | c.*279C>A (n.*279C>A) | dbSNP gnomAD v4 COSMIC |
| 1 | g.229431221C>T | CA2650926406 | ACTA1 | c.*278G>A (n.*278G>A) | gnomAD v4 |
| 1 | g.229431224del | CA2650926405 | ACTA1 | c.*278del (n.*278del) | gnomAD v4 |
| 1 | g.229431222C>A | CA2650926408 | ACTA1 | c.*277G>T (n.*277G>T) | gnomAD v4 |
| 1 | g.229431222C>T | CA2650926407 | ACTA1 | c.*277G>A (n.*277G>A) | gnomAD v4 |
| 1 | g.229431223C>A | CA2650926409 | ACTA1 | c.*276G>T (n.*276G>T) | gnomAD v4 |
| 1 | g.229431224C>A | CA2650926410 | ACTA1 | c.*275G>T (n.*275G>T) | gnomAD v4 |
| 1 | g.229431225A= | CA1226125190 | ACTA1 | c.*274T= (n.*274T=) | |
| 1 | g.229431225A>C | CA1226125191 | ACTA1 | c.*274T>G (n.*274T>G) | dbSNP |
| 1 | g.229431225A>T | CA2650926411 | ACTA1 | c.*274T>A (n.*274T>A) | gnomAD v4 |
| 1 | g.229431226A= | CA1226125192 | ACTA1 | c.*273T= (n.*273T=) | |
| 1 | g.229431226A>G | CA1013145016 | ACTA1 | c.*273T>C (n.*273T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431227G>A | CA2650926412 | ACTA1 | c.*272C>T (n.*272C>T) | gnomAD v4 |
| 1 | g.229431227G>T | CA2650926413 | ACTA1 | c.*272C>A (n.*272C>A) | gnomAD v4 |
| 1 | g.229431228C>A | CA2650926414 | ACTA1 | c.*271G>T (n.*271G>T) | gnomAD v4 |
| 1 | g.229431231dup | CA2650926415 | ACTA1 | c.*270dup (n.*270dup) | gnomAD v4 |
| 1 | g.229431230A>C | CA2650926416 | ACTA1 | c.*269T>G (n.*269T>G) | gnomAD v4 |
| 1 | g.229431231A= | CA1226125193 | ACTA1 | c.*268T= (n.*268T=) | |
| 1 | g.229431231A>G | CA529656400 | ACTA1 | c.*268T>C (n.*268T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431233A>G | CA2650926418 | ACTA1 | c.*266T>C (n.*266T>C) | gnomAD v4 |
| 1 | g.229431235del | CA2650926417 | ACTA1 | c.*266del (n.*266del) | gnomAD v4 |
| 1 | g.229431235A= | CA1226125194 | ACTA1 | c.*264T= (n.*264T=) | |
| 1 | g.229431235A>G | CA1226125195 | ACTA1 | c.*264T>C (n.*264T>C) | dbSNP gnomAD v4 |
| 1 | g.229431236del | CA2650926419 | ACTA1 | c.*263del (n.*263del) | gnomAD v4 |
| 1 | g.229431236C>A | CA2650926420 | ACTA1 | c.*263G>T (n.*263G>T) | gnomAD v4 |
| 1 | g.229431236C>T | CA2650926421 | ACTA1 | c.*263G>A (n.*263G>A) | gnomAD v4 |
| 1 | g.229431237A>G | CA2650926422 | ACTA1 | c.*262T>C (n.*262T>C) | gnomAD v4 |
| 1 | g.229431237A>T | CA2650926423 | ACTA1 | c.*262T>A (n.*262T>A) | gnomAD v4 |
| 1 | g.229431238del | CA2650926424 | ACTA1 | c.*261del (n.*261del) | gnomAD v4 |
| 1 | g.229431238C>A | CA38814485 | ACTA1 | c.*261G>T (n.*261G>T) | dbSNP gnomAD v4 |
| 1 | g.229431238C= | CA1226125196 | ACTA1 | c.*261G= (n.*261G=) | |
| 1 | g.229431238C>G | CA2650926425 | ACTA1 | c.*261G>C (n.*261G>C) | gnomAD v4 |
| 1 | g.229431238C>T | CA2650926426 | ACTA1 | c.*261G>A (n.*261G>A) | gnomAD v4 |
| 1 | g.229431239G>A | CA2650926427 | ACTA1 | c.*260C>T (n.*260C>T) | gnomAD v4 |
| 1 | g.229431239G>C | CA2650926428 | ACTA1 | c.*260C>G (n.*260C>G) | gnomAD v4 |
| 1 | g.229431239G>T | CA2650926429 | ACTA1 | c.*260C>A (n.*260C>A) | gnomAD v4 |
| 1 | g.229431240A>G | CA2650926430 | ACTA1 | c.*259T>C (n.*259T>C) | gnomAD v4 |
| 1 | g.229431241C>A | CA2650926431 | ACTA1 | c.*258G>T (n.*258G>T) | gnomAD v4 |
| 1 | g.229431241C>T | CA2650926432 | ACTA1 | c.*258G>A (n.*258G>A) | gnomAD v4 |
| 1 | g.229431242C>A | CA2650926433 | ACTA1 | c.*257G>T (n.*257G>T) | gnomAD v4 |
| 1 | g.229431243A= | CA1226125197 | ACTA1 | c.*256T= (n.*256T=) | |
| 1 | g.229431243A>T | CA732579040 | ACTA1 | c.*256T>A (n.*256T>A) | dbSNP |
| 1 | g.229431244C= | CA1226125198 | ACTA1 | c.*255G= (n.*255G=) | |
| 1 | g.229431244C>T | CA732579042 | ACTA1 | c.*255G>A (n.*255G>A) | dbSNP |
| 1 | g.229431245T>C | CA1226125199 | ACTA1 | c.*254A>G (n.*254A>G) | dbSNP |
| 1 | g.229431245T= | CA1226125200 | ACTA1 | c.*254A= (n.*254A=) | |
| 1 | g.229431246T>A | CA732579045 | ACTA1 | c.*253A>T (n.*253A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431246T= | CA1226125201 | ACTA1 | c.*253A= (n.*253A=) | |
| 1 | g.229431248A= | CA1141241620 | ACTA1 | c.*251T= (n.*251T=) | |
| 1 | g.229431248A>T | CA38814488 | ACTA1 | c.*251T>A (n.*251T>A) | dbSNP |
| 1 | g.229431249C>A | CA2650926434 | ACTA1 | c.*250G>T (n.*250G>T) | gnomAD v4 |
| 1 | g.229431249C>T | CA2650926435 | ACTA1 | c.*250G>A (n.*250G>A) | gnomAD v4 |
| 1 | g.229431250G>A | CA38814489 | ACTA1 | c.*249C>T (n.*249C>T) | dbSNP gnomAD v4 |
| 1 | g.229431250G= | CA1226125202 | ACTA1 | c.*249C= (n.*249C=) | |
| 1 | g.229431250G>T | CA2650926436 | ACTA1 | c.*249C>A (n.*249C>A) | gnomAD v4 |
| 1 | g.229431251C>A | CA2650926437 | ACTA1 | c.*248G>T (n.*248G>T) | gnomAD v4 |
| 1 | g.229431251C= | CA1146089550 | ACTA1 | c.*248G= (n.*248G=) | |
| 1 | g.229431251C>T | CA38814493 | ACTA1 | c.*248G>A (n.*248G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431252A>G | CA2650926438 | ACTA1 | c.*247T>C (n.*247T>C) | gnomAD v4 |
| 1 | g.229431253del | CA2650926439 | ACTA1 | c.*246del (n.*246del) | gnomAD v4 |
| 1 | g.229431253G>T | CA2650926440 | ACTA1 | c.*246C>A (n.*246C>A) | gnomAD v4 |
| 1 | g.229431254C>A | CA2650926441 | ACTA1 | c.*245G>T (n.*245G>T) | gnomAD v4 |
| 1 | g.229431254C>T | CA2650926442 | ACTA1 | c.*245G>A (n.*245G>A) | gnomAD v4 |
| 1 | g.229431255T>A | CA2698258818 | ACTA1 | c.*244A>T (n.*244A>T) | dbSNP |
| 1 | g.229431256T>A | CA2650926443 | ACTA1 | c.*243A>T (n.*243A>T) | dbSNP gnomAD v4 |
| 1 | g.229431256T>G | CA2650926444 | ACTA1 | c.*243A>C (n.*243A>C) | gnomAD v4 |
| 1 | g.229431258del | CA2650926445 | ACTA1 | c.*242del (n.*242del) | gnomAD v4 |
| 1 | g.229431258A= | CA1226125203 | ACTA1 | c.*241T= (n.*241T=) | |
| 1 | g.229431258A>G | CA732579053 | ACTA1 | c.*241T>C (n.*241T>C) | dbSNP |
| 1 | g.229431258A>T | CA732579051 | ACTA1 | c.*241T>A (n.*241T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431259C>A | CA2650926446 | ACTA1 | c.*240G>T (n.*240G>T) | gnomAD v4 |
| 1 | g.229431259C= | CA1226125204 | ACTA1 | c.*240G= (n.*240G=) | |
| 1 | g.229431259C>T | CA38814494 | ACTA1 | c.*240G>A (n.*240G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431260A>T | CA2650926447 | ACTA1 | c.*239T>A (n.*239T>A) | gnomAD v4 |
| 1 | g.229431261G= | CA1226125205 | ACTA1 | c.*238C= (n.*238C=) | |
| 1 | g.229431261G>T | CA38814495 | ACTA1 | c.*238C>A (n.*238C>A) | dbSNP gnomAD v4 |
| 1 | g.229431262A>G | CA2650926448 | ACTA1 | c.*237T>C (n.*237T>C) | gnomAD v4 |
| 1 | g.229431263A>G | CA2650926449 | ACTA1 | c.*236T>C (n.*236T>C) | gnomAD v4 |
| 1 | g.229431263_229431264insCGGC | CA2698258850 | ACTA1 | c.*235_*236insGCCG (n.*235_*236insGCCG) | dbSNP |
| 1 | g.229431264T>A | CA2650926450 | ACTA1 | c.*235A>T (n.*235A>T) | gnomAD v4 |
| 1 | g.229431265G>T | CA2650926451 | ACTA1 | c.*234C>A (n.*234C>A) | gnomAD v4 |
| 1 | g.229431266A>T | CA2650926452 | ACTA1 | c.*233T>A (n.*233T>A) | gnomAD v4 |
| 1 | g.229431267_229431269delinsCTT | CA1226125206 | ACTA1 | c.*230_*232delinsAAG (n.*230_*232delinsAAG) | |
| 1 | g.229431268T>G | CA1226125207 | ACTA1 | c.*231A>C (n.*231A>C) | dbSNP |
| 1 | g.229431268T= | CA1226125208 | ACTA1 | c.*231A= (n.*231A=) | |
| 1 | g.229431269_229431270del | CA38814496 | ACTA1 | c.*230_*231del (n.*230_*231del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431269T>C | CA38814498 | ACTA1 | c.*230A>G (n.*230A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431269T= | CA1226125209 | ACTA1 | c.*230A= (n.*230A=) | |
| 1 | g.229431270T>C | CA1226125211 | ACTA1 | c.*229A>G (n.*229A>G) | dbSNP gnomAD v4 |
| 1 | g.229431270T= | CA1226125210 | ACTA1 | c.*229A= (n.*229A=) | |
| 1 | g.229431271A>T | CA2650926453 | ACTA1 | c.*228T>A (n.*228T>A) | gnomAD v4 |
| 1 | g.229431273T>C | CA2650926454 | ACTA1 | c.*226A>G (n.*226A>G) | gnomAD v4 |
| 1 | g.229431274G>A | CA2650926455 | ACTA1 | c.*225C>T (n.*225C>T) | gnomAD v4 |
| 1 | g.229431274G>T | CA2650926456 | ACTA1 | c.*225C>A (n.*225C>A) | gnomAD v4 |
| 1 | g.229431274_229431277delinsGCTT | CA1226125212 | ACTA1 | c.*222_*225delinsAAGC (n.*222_*225delinsAAGC) | |
| 1 | g.229431275C>A | CA2650926457 | ACTA1 | c.*224G>T (n.*224G>T) | gnomAD v4 |
| 1 | g.229431279_229431281del | CA916422652 | ACTA1 | c.*222_*224del (n.*222_*224del) | dbSNP gnomAD v4 |
| 1 | g.229431277T>A | CA2650926459 | ACTA1 | c.*222A>T (n.*222A>T) | gnomAD v4 |
| 1 | g.229431277T>C | CA2650926460 | ACTA1 | c.*222A>G (n.*222A>G) | gnomAD v4 |
| 1 | g.229431277T>G | CA2650926458 | ACTA1 | c.*222A>C (n.*222A>C) | gnomAD v4 |
| 1 | g.229431280T>A | CA38814499 | ACTA1 | c.*219A>T (n.*219A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431280T>G | CA732579056 | ACTA1 | c.*219A>C (n.*219A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431280T= | CA1144321307 | ACTA1 | c.*219A= (n.*219A=) | |
| 1 | g.229431282A= | CA1226125213 | ACTA1 | c.*217T= (n.*217T=) | |
| 1 | g.229431282A>C | CA38814501 | ACTA1 | c.*217T>G (n.*217T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431282A>G | CA2650926461 | ACTA1 | c.*217T>C (n.*217T>C) | gnomAD v4 |
| 1 | g.229431282A>T | CA2650926462 | ACTA1 | c.*217T>A (n.*217T>A) | gnomAD v4 |
| 1 | g.229431283A>C | CA2650926463 | ACTA1 | c.*216T>G (n.*216T>G) | gnomAD v4 |
| 1 | g.229431283A>G | CA2650926464 | ACTA1 | c.*216T>C (n.*216T>C) | gnomAD v4 |
| 1 | g.229431283A>T | CA2650926465 | ACTA1 | c.*216T>A (n.*216T>A) | gnomAD v4 |
| 1 | g.229431286T>C | CA2650926466 | ACTA1 | c.*213A>G (n.*213A>G) | gnomAD v4 |
| 1 | g.229431289C>T | CA2650926467 | ACTA1 | c.*210G>A (n.*210G>A) | gnomAD v4 |
| 1 | g.229431290C>A | CA529656404 | ACTA1 | c.*209G>T (n.*209G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431290C= | CA1226125214 | ACTA1 | c.*209G= (n.*209G=) | |
| 1 | g.229431290C>T | CA2650926468 | ACTA1 | c.*209G>A (n.*209G>A) | gnomAD v4 |
| 1 | g.229431291A>G | CA2650926469 | ACTA1 | c.*208T>C (n.*208T>C) | gnomAD v4 |
| 1 | g.229431291A>T | CA2650926470 | ACTA1 | c.*208T>A (n.*208T>A) | gnomAD v4 |
| 1 | g.229431295del | CA2650926471 | ACTA1 | c.*207del (n.*207del) | gnomAD v4 |
| 1 | g.229431293T>G | CA2650926472 | ACTA1 | c.*206A>C (n.*206A>C) | gnomAD v4 |
| 1 | g.229431295T>C | CA1226125216 | ACTA1 | c.*204A>G (n.*204A>G) | dbSNP |
| 1 | g.229431295T= | CA1226125215 | ACTA1 | c.*204A= (n.*204A=) | |
| 1 | g.229431295_229431296insGAGGCAGACGATTAGGCTTAAAGTCCTGGTTGACATAGATATGATGATTATTGACGAACTTGGCTGTTTCTCCATTTTGGTAATCAACCACTGCCGTCACCGTCTCAGGCAACATATTGAGACTTTC | CA2564163381 | ACTA1 | c.*203_*204insGAAAGTCTCAATATGTTGCCTGAGACGGTGACGGCAGTGGTTGATTACCAAAATGGAGAAACAGCCAAGTTCGTCAATAATCATCATATCTATGTCAACCAGGACTTTAAGCCTAATCGTCTGCCTC (n.*203_*204insGAAAGTCTCAATATGTTGCCTGAGACGGTGACGGCAGTGGTTGATTACCAAAATGGAGAAACAGCCAAGTTCGTCAATAATCATCATATCTATGTCAACCAGGACTTTAAGCCTAATCGTCTGCCTC) | |
| 1 | g.229431296C>A | CA2650926473 | ACTA1 | c.*203G>T (n.*203G>T) | gnomAD v4 |
| 1 | g.229431297T>C | CA1226125218 | ACTA1 | c.*202A>G (n.*202A>G) | dbSNP |
| 1 | g.229431297T= | CA1226125217 | ACTA1 | c.*202A= (n.*202A=) | |
| 1 | g.229431299C>A | CA2650926474 | ACTA1 | c.*200G>T (n.*200G>T) | gnomAD v4 |
| 1 | g.229431300C>A | CA2650926475 | ACTA1 | c.*199G>T (n.*199G>T) | gnomAD v4 |
| 1 | g.229431300C>T | CA2650926476 | ACTA1 | c.*199G>A (n.*199G>A) | gnomAD v4 |
| 1 | g.229431301A>G | CA2650926477 | ACTA1 | c.*198T>C (n.*198T>C) | gnomAD v4 |
| 1 | g.229431301A>T | CA2650926478 | ACTA1 | c.*198T>A (n.*198T>A) | gnomAD v4 |