Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |