| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 1 | g.229431302C= | CA1226125219 | ACTA1 | c.*197G= (n.*197G=) | |
| 1 | g.229431302C>T | CA1226125220 | ACTA1 | c.*197G>A (n.*197G>A) | dbSNP gnomAD v4 |
| 1 | g.229431303A>G | CA2650926479 | ACTA1 | c.*196T>C (n.*196T>C) | gnomAD v4 |
| 1 | g.229431304G>A | CA2650926480 | ACTA1 | c.*195C>T (n.*195C>T) | gnomAD v4 |
| 1 | g.229431305G>A | CA2748054861 | ACTA1 | c.*194C>T (n.*194C>T) | |
| 1 | g.229431306G>A | CA38814507 | ACTA1 | c.*193C>T (n.*193C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431306G= | CA1226125221 | ACTA1 | c.*193C= (n.*193C=) | |
| 1 | g.229431306G>T | CA2650926481 | ACTA1 | c.*193C>A (n.*193C>A) | gnomAD v4 |
| 1 | g.229431307C>A | CA2650926482 | ACTA1 | c.*192G>T (n.*192G>T) | gnomAD v4 |
| 1 | g.229431307C>T | CA423754782 | ACTA1 | c.*192G>A (n.*192G>A) | gnomAD v4 |
| 1 | g.229431309T>C | CA2650926483 | ACTA1 | c.*190A>G (n.*190A>G) | gnomAD v4 |
| 1 | g.229431309T>G | CA2650926484 | ACTA1 | c.*190A>C (n.*190A>C) | gnomAD v4 |
| 1 | g.229431310T>A | CA38814511 | ACTA1 | c.*189A>T (n.*189A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431310T>C | CA1226125223 | ACTA1 | c.*189A>G (n.*189A>G) | dbSNP gnomAD v4 |
| 1 | g.229431310T>G | CA2650926485 | ACTA1 | c.*189A>C (n.*189A>C) | gnomAD v4 |
| 1 | g.229431310T= | CA1226125222 | ACTA1 | c.*189A= (n.*189A=) | |
| 1 | g.229431311G>C | CA2650926486 | ACTA1 | c.*188C>G (n.*188C>G) | gnomAD v4 |
| 1 | g.229431311G>T | CA2650926487 | ACTA1 | c.*188C>A (n.*188C>A) | gnomAD v4 |
| 1 | g.229431312T>G | CA2650926488 | ACTA1 | c.*187A>C (n.*187A>C) | gnomAD v4 |
| 1 | g.229431314_229431315delinsTC | CA1226125224 | ACTA1 | c.*184_*185delinsGA (n.*184_*185delinsGA) | |
| 1 | g.229431315del | CA916422653 | ACTA1 | c.*184del (n.*184del) | dbSNP |
| 1 | g.229431315C>A | CA2650926489 | ACTA1 | c.*184G>T (n.*184G>T) | gnomAD v4 |
| 1 | g.229431315C>T | CA2650926490 | ACTA1 | c.*184G>A (n.*184G>A) | gnomAD v4 |
| 1 | g.229431316G>A | CA38814515 | ACTA1 | c.*183C>T (n.*183C>T) | dbSNP gnomAD v4 |
| 1 | g.229431316G>C | CA38814521 | ACTA1 | c.*183C>G (n.*183C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431316G= | CA1145365991 | ACTA1 | c.*183C= (n.*183C=) | |
| 1 | g.229431316G>T | CA1226125225 | ACTA1 | c.*183C>A (n.*183C>A) | dbSNP gnomAD v4 |
| 1 | g.229431321del | CA2650926491 | ACTA1 | c.*182del (n.*182del) | gnomAD v4 |
| 1 | g.229431322T>C | CA1226125227 | ACTA1 | c.*177A>G (n.*177A>G) | dbSNP gnomAD v4 |
| 1 | g.229431322T= | CA1226125226 | ACTA1 | c.*177A= (n.*177A=) | |
| 1 | g.229431326A= | CA1226125228 | ACTA1 | c.*173T= (n.*173T=) | |
| 1 | g.229431326A>C | CA529915214 | ACTA1 | c.*173T>G (n.*173T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431329dup | CA2650926492 | ACTA1 | c.*173dup (n.*173dup) | gnomAD v4 |
| 1 | g.229431328A= | CA1226125229 | ACTA1 | c.*171T= (n.*171T=) | |
| 1 | g.229431328A>C | CA529915215 | ACTA1 | c.*171T>G (n.*171T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431331G>A | CA2650926493 | ACTA1 | c.*168C>T (n.*168C>T) | gnomAD v4 |
| 1 | g.229431331G>T | CA2650926494 | ACTA1 | c.*168C>A (n.*168C>A) | gnomAD v4 |
| 1 | g.229431332A>G | CA2650926496 | ACTA1 | c.*167T>C (n.*167T>C) | gnomAD v4 |
| 1 | g.229431332A>T | CA2650926495 | ACTA1 | c.*167T>A (n.*167T>A) | gnomAD v4 |
| 1 | g.229431333G>A | CA732579074 | ACTA1 | c.*166C>T (n.*166C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431333G= | CA1226125230 | ACTA1 | c.*166C= (n.*166C=) | |
| 1 | g.229431333G>T | CA2650926497 | ACTA1 | c.*166C>A (n.*166C>A) | gnomAD v4 |
| 1 | g.229431334G>A | CA2650926498 | ACTA1 | c.*165C>T (n.*165C>T) | gnomAD v4 |
| 1 | g.229431334G>T | CA2650926499 | ACTA1 | c.*165C>A (n.*165C>A) | gnomAD v4 |
| 1 | g.229431335T>C | CA2650926500 | ACTA1 | c.*164A>G (n.*164A>G) | gnomAD v4 |
| 1 | g.229431335T= | CA1226125231 | ACTA1 | c.*164A= (n.*164A=) | |
| 1 | g.229431336A>G | CA2650926501 | ACTA1 | c.*163T>C (n.*163T>C) | gnomAD v4 |
| 1 | g.229431337dup | CA916422654 | ACTA1 | c.*163dup (n.*163dup) | dbSNP |
| 1 | g.229431337A= | CA1226125232 | ACTA1 | c.*162T= (n.*162T=) | |
| 1 | g.229431337A>G | CA1013145038 | ACTA1 | c.*162T>C (n.*162T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431337_229431338delinsAT | CA1226125233 | ACTA1 | c.*161_*162delinsAT (n.*161_*162delinsAT) | |
| 1 | g.229431338del | CA1013145044 | ACTA1 | c.*161del (n.*161del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431340A>C | CA2650926502 | ACTA1 | c.*159T>G (n.*159T>G) | gnomAD v4 |
| 1 | g.229431340A>G | CA2650926503 | ACTA1 | c.*159T>C (n.*159T>C) | gnomAD v4 |
| 1 | g.229431340_229431342del | CA2698258886 | ACTA1 | c.*157_*159del (n.*157_*159del) | dbSNP |
| 1 | g.229431341G>A | CA2650926504 | ACTA1 | c.*158C>T (n.*158C>T) | gnomAD v4 |
| 1 | g.229431341G>T | CA2650926505 | ACTA1 | c.*158C>A (n.*158C>A) | gnomAD v4 |
| 1 | g.229431342T>G | CA2650926506 | ACTA1 | c.*157A>C (n.*157A>C) | gnomAD v4 |
| 1 | g.229431342_229431347delinsTTAATG | CA1226125234 | ACTA1 | c.*152_*157delinsCATTAA (n.*152_*157delinsCATTAA) | |
| 1 | g.229431343T>G | CA1013145046 | ACTA1 | c.*156A>C (n.*156A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431343T= | CA1226125235 | ACTA1 | c.*156A= (n.*156A=) | |
| 1 | g.229431345_229431349del | CA732579076 | ACTA1 | c.*152_*156del (n.*152_*156del) | dbSNP |
| 1 | g.229431344A>G | CA2650926507 | ACTA1 | c.*155T>C (n.*155T>C) | gnomAD v4 |
| 1 | g.229431344A>T | CA2650926508 | ACTA1 | c.*155T>A (n.*155T>A) | gnomAD v4 |
| 1 | g.229431346T>C | CA38814525 | ACTA1 | c.*153A>G (n.*153A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431346T= | CA1226125236 | ACTA1 | c.*153A= (n.*153A=) |