| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431279_229431281del | CA916422652 | ACTA1 | c.*222_*224del (n.*222_*224del) | dbSNP gnomAD v4 |
| 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=) | |
| 1 | g.229431347G>C | CA2650926510 | ACTA1 | c.*152C>G (n.*152C>G) | dbSNP gnomAD v4 |
| 1 | g.229431347G>T | CA2650926509 | ACTA1 | c.*152C>A (n.*152C>A) | gnomAD v4 |
| 1 | g.229431348T>C | CA2650926511 | ACTA1 | c.*151A>G (n.*151A>G) | gnomAD v4 |
| 1 | g.229431349A= | CA1226125237 | ACTA1 | c.*150T= (n.*150T=) | |
| 1 | g.229431349A>T | CA1226125238 | ACTA1 | c.*150T>A (n.*150T>A) | dbSNP gnomAD v4 |
| 1 | g.229431351G>T | CA2650926512 | ACTA1 | c.*148C>A (n.*148C>A) | gnomAD v4 |
| 1 | g.229431352T>A | CA2650926513 | ACTA1 | c.*147A>T (n.*147A>T) | gnomAD v4 |
| 1 | g.229431354C>A | CA2650926514 | ACTA1 | c.*145G>T (n.*145G>T) | gnomAD v4 |
| 1 | g.229431354C= | CA1226125239 | ACTA1 | c.*145G= (n.*145G=) | |
| 1 | g.229431354C>T | CA1226125240 | ACTA1 | c.*145G>A (n.*145G>A) | dbSNP gnomAD v4 |
| 1 | g.229431356C>A | CA1226125241 | ACTA1 | c.*143G>T (n.*143G>T) | dbSNP gnomAD v4 |
| 1 | g.229431356C= | CA1226125242 | ACTA1 | c.*143G= (n.*143G=) | |
| 1 | g.229431356C>G | CA38814527 | ACTA1 | c.*143G>C (n.*143G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431356C>T | CA529915216 | ACTA1 | c.*143G>A (n.*143G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431357G>A | CA2650926515 | ACTA1 | c.*142C>T (n.*142C>T) | gnomAD v4 |
| 1 | g.229431357G>T | CA2650926516 | ACTA1 | c.*142C>A (n.*142C>A) | gnomAD v4 |
| 1 | g.229431360A>C | CA2650926517 | ACTA1 | c.*139T>G (n.*139T>G) | gnomAD v4 |
| 1 | g.229431360A>G | CA2748054864 | ACTA1 | c.*139T>C (n.*139T>C) | |
| 1 | g.229431361T>A | CA1226125244 | ACTA1 | c.*138A>T (n.*138A>T) | dbSNP |
| 1 | g.229431361T= | CA1226125243 | ACTA1 | c.*138A= (n.*138A=) | |
| 1 | g.229431362A= | CA1226125245 | ACTA1 | c.*137T= (n.*137T=) | |
| 1 | g.229431362A>G | CA1226125246 | ACTA1 | c.*137T>C (n.*137T>C) | dbSNP |
| 1 | g.229431364del | CA2650926518 | ACTA1 | c.*137del (n.*137del) | gnomAD v4 |
| 1 | g.229431364A>G | CA2650926519 | ACTA1 | c.*135T>C (n.*135T>C) | gnomAD v4 |
| 1 | g.229431364A>T | CA2650926520 | ACTA1 | c.*135T>A (n.*135T>A) | gnomAD v4 |
| 1 | g.229431365C>A | CA2650926521 | ACTA1 | c.*134G>T (n.*134G>T) | gnomAD v4 |
| 1 | g.229431365C= | CA1226125247 | ACTA1 | c.*134G= (n.*134G=) | |
| 1 | g.229431365C>G | CA1226125248 | ACTA1 | c.*134G>C (n.*134G>C) | dbSNP |
| 1 | g.229431365C>T | CA2650926522 | ACTA1 | c.*134G>A (n.*134G>A) | gnomAD v4 |
| 1 | g.229431366A>G | CA2650926523 | ACTA1 | c.*133T>C (n.*133T>C) | gnomAD v4 |
| 1 | g.229431366A>T | CA2650926524 | ACTA1 | c.*133T>A (n.*133T>A) | gnomAD v4 |
| 1 | g.229431367C= | CA1226125249 | ACTA1 | c.*132G= (n.*132G=) | |
| 1 | g.229431367C>G | CA1013145050 | ACTA1 | c.*132G>C (n.*132G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431367C>T | CA1013145051 | ACTA1 | c.*132G>A (n.*132G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431367_229431369delinsCTG | CA1226125250 | ACTA1 | c.*130_*132delinsCAG (n.*130_*132delinsCAG) | |
| 1 | g.229431371_229431372del | CA732579084 | ACTA1 | c.*130_*131del (n.*130_*131del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431369G>A | CA2650926525 | ACTA1 | c.*130C>T (n.*130C>T) | gnomAD v4 |
| 1 | g.229431369G>T | CA2650926526 | ACTA1 | c.*130C>A (n.*130C>A) | gnomAD v4 |
| 1 | g.229431371G>T | CA2650926527 | ACTA1 | c.*128C>A (n.*128C>A) | gnomAD v4 |
| 1 | g.229431372T>A | CA732579086 | ACTA1 | c.*127A>T (n.*127A>T) | dbSNP |
| 1 | g.229431372T>C | CA732579087 | ACTA1 | c.*127A>G (n.*127A>G) | dbSNP |
| 1 | g.229431372T= | CA1226125251 | ACTA1 | c.*127A= (n.*127A=) | |
| 1 | g.229431374A= | CA1226125252 | ACTA1 | c.*125T= (n.*125T=) | |
| 1 | g.229431374A>G | CA1226125253 | ACTA1 | c.*125T>C (n.*125T>C) | dbSNP gnomAD v4 |
| 1 | g.229431375G>C | CA1226125255 | ACTA1 | c.*124C>G (n.*124C>G) | dbSNP |
| 1 | g.229431375G= | CA1226125254 | ACTA1 | c.*124C= (n.*124C=) | |
| 1 | g.229431375G>T | CA2650926528 | ACTA1 | c.*124C>A (n.*124C>A) | gnomAD v4 |
| 1 | g.229431376T>G | CA1226125257 | ACTA1 | c.*123A>C (n.*123A>C) | dbSNP |
| 1 | g.229431376T= | CA1226125256 | ACTA1 | c.*123A= (n.*123A=) | |
| 1 | g.229431378T>C | CA38814534 | ACTA1 | c.*121A>G (n.*121A>G) | dbSNP |
| 1 | g.229431378T= | CA1226125258 | ACTA1 | c.*121A= (n.*121A=) | |
| 1 | g.229431379A= | CA1226125259 | ACTA1 | c.*120T= (n.*120T=) | |
| 1 | g.229431379A>G | CA1226125260 | ACTA1 | c.*120T>C (n.*120T>C) | dbSNP |
| 1 | g.229431379A>T | CA2650926529 | ACTA1 | c.*120T>A (n.*120T>A) | gnomAD v4 |
| 1 | g.229431380C>T | CA2650926530 | ACTA1 | c.*119G>A (n.*119G>A) | gnomAD v4 |
| 1 | g.229431381G>A | CA38814541 | ACTA1 | c.*118C>T (n.*118C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431381G= | CA1146871129 | ACTA1 | c.*118C= (n.*118C=) | |
| 1 | g.229431381G>T | CA2650926531 | ACTA1 | c.*118C>A (n.*118C>A) | gnomAD v4 |
| 1 | g.229431382_229431384del | CA2698258961 | ACTA1 | c.*116_*118del (n.*116_*118del) | dbSNP |