| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432152T>A | CA345147257 | ACTA1 | c.650A>T (p.Lys217Met) c.515A>T (p.Lys172Met) c.479+255A>T (n.479+255A>T) | |
| 1 | g.229432152T>C | CA345147259 | ACTA1 | c.650A>G (p.Lys217Arg) c.515A>G (p.Lys172Arg) c.479+255A>G (n.479+255A>G) | |
| 1 | g.229432152T>G | CA345147263 | ACTA1 | c.650A>C (p.Lys217Thr) c.515A>C (p.Lys172Thr) c.479+255A>C (n.479+255A>C) | |
| 1 | g.229432153T>A | CA345147266 | ACTA1 | c.649A>T (p.Lys217Ter) c.514A>T (p.Lys172Ter) c.479+254A>T (n.479+254A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432153T>C | CA345147270 | ACTA1 | c.649A>G (p.Lys217Glu) c.514A>G (p.Lys172Glu) c.479+254A>G (n.479+254A>G) | |
| 1 | g.229432153T>G | CA345147272 | ACTA1 | c.649A>C (p.Lys217Gln) c.514A>C (p.Lys172Gln) c.479+254A>C (n.479+254A>C) | |
| 1 | g.229432153T= | CA1226125663 | ACTA1 | c.649A= (p.Lys217=) c.514A= (p.Lys172=) c.479+254A= (n.479+254A=) | |
| 1 | g.229432154del | CA645538678 | ACTA1 | c.648del (p.Lys217SerfsTer?) c.513del (p.Lys172SerfsTer?) c.479+253del (n.479+253del) | COSMIC |
| 1 | g.229432154C>A | CA345147276 | ACTA1 | c.648G>T (p.Glu216Asp) c.513G>T (p.Glu171Asp) c.479+253G>T (n.479+253G>T) | |
| 1 | g.229432154C= | CA1145060616 | ACTA1 | c.648G= (p.Glu216=) c.513G= (p.Glu171=) c.479+253G= (n.479+253G=) | |
| 1 | g.229432154C>G | CA345147280 | ACTA1 | c.648G>C (p.Glu216Asp) c.513G>C (p.Glu171Asp) c.479+253G>C (n.479+253G>C) | |
| 1 | g.229432154C>T | CA38815737 | ACTA1 | c.648G>A (p.Glu216=) c.513G>A (p.Glu171=) c.479+253G>A (n.479+253G>A) | dbSNP gnomAD v4 |
| 1 | g.229432155T>A | CA345147282 | ACTA1 | c.647A>T (p.Glu216Val) c.512A>T (p.Glu171Val) c.479+252A>T (n.479+252A>T) | |
| 1 | g.229432155T>C | CA345147285 | ACTA1 | c.647A>G (p.Glu216Gly) c.512A>G (p.Glu171Gly) c.479+252A>G (n.479+252A>G) | |
| 1 | g.229432155T>G | CA345147289 | ACTA1 | c.647A>C (p.Glu216Ala) c.512A>C (p.Glu171Ala) c.479+252A>C (n.479+252A>C) | |
| 1 | g.229432156C>A | CA345147293 | ACTA1 | c.646G>T (p.Glu216Ter) c.511G>T (p.Glu171Ter) c.479+251G>T (n.479+251G>T) | |
| 1 | g.229432156C>G | CA345147298 | ACTA1 | c.646G>C (p.Glu216Gln) c.511G>C (p.Glu171Gln) c.479+251G>C (n.479+251G>C) | |
| 1 | g.229432156C>T | CA345147303 | ACTA1 | c.646G>A (p.Glu216Lys) c.511G>A (p.Glu171Lys) c.479+251G>A (n.479+251G>A) | ClinVar |
| 1 | g.229432157C>A | CA345147307 | ACTA1 | c.645G>T (p.Lys215Asn) c.510G>T (p.Lys170Asn) c.479+250G>T (n.479+250G>T) | |
| 1 | g.229432157C= | CA1226125664 | ACTA1 | c.645G= (p.Lys215=) c.510G= (p.Lys170=) c.479+250G= (n.479+250G=) | |
| 1 | g.229432157C>G | CA345147311 | ACTA1 | c.645G>C (p.Lys215Asn) c.510G>C (p.Lys170Asn) c.479+250G>C (n.479+250G>C) | |
| 1 | g.229432157C>T | CA423755241 | ACTA1 | c.645G>A (p.Lys215=) c.510G>A (p.Lys170=) c.479+250G>A (n.479+250G>A) | ClinVar dbSNP |
| 1 | g.229432158T>A | CA345147315 | ACTA1 | c.644A>T (p.Lys215Met) c.509A>T (p.Lys170Met) c.479+249A>T (n.479+249A>T) | |
| 1 | g.229432158T>C | CA345147317 | ACTA1 | c.644A>G (p.Lys215Arg) c.509A>G (p.Lys170Arg) c.479+249A>G (n.479+249A>G) | |
| 1 | g.229432158T>G | CA345147319 | ACTA1 | c.644A>C (p.Lys215Thr) c.509A>C (p.Lys170Thr) c.479+249A>C (n.479+249A>C) | |
| 1 | g.229432159T>A | CA345147325 | ACTA1 | c.643A>T (p.Lys215Ter) c.508A>T (p.Lys170Ter) c.479+248A>T (n.479+248A>T) | |
| 1 | g.229432159T>C | CA345147327 | ACTA1 | c.643A>G (p.Lys215Glu) c.508A>G (p.Lys170Glu) c.479+248A>G (n.479+248A>G) | dbSNP |
| 1 | g.229432159T>G | CA345147322 | ACTA1 | c.643A>C (p.Lys215Gln) c.508A>C (p.Lys170Gln) c.479+248A>C (n.479+248A>C) | |
| 1 | g.229432159T= | CA1226125665 | ACTA1 | c.643A= (p.Lys215=) c.508A= (p.Lys170=) c.479+248A= (n.479+248A=) | |
| 1 | g.229432160G>A | CA423755244 | ACTA1 | c.642C>T (p.Ile214=) c.507C>T (p.Ile169=) c.479+247C>T (n.479+247C>T) | |
| 1 | g.229432160G>C | CA345147329 | ACTA1 | c.642C>G (p.Ile214Met) c.507C>G (p.Ile169Met) c.479+247C>G (n.479+247C>G) | COSMIC |
| 1 | g.229432160G>T | CA423755245 | ACTA1 | c.642C>A (p.Ile214=) c.507C>A (p.Ile169=) c.479+247C>A (n.479+247C>A) | |
| 1 | g.229432161A>C | CA345147334 | ACTA1 | c.641T>G (p.Ile214Ser) c.506T>G (p.Ile169Ser) c.479+246T>G (n.479+246T>G) | |
| 1 | g.229432161A>G | CA345147337 | ACTA1 | c.641T>C (p.Ile214Thr) c.506T>C (p.Ile169Thr) c.479+246T>C (n.479+246T>C) | |
| 1 | g.229432161A>T | CA345147338 | ACTA1 | c.641T>A (p.Ile214Asn) c.506T>A (p.Ile169Asn) c.479+246T>A (n.479+246T>A) | |
| 1 | g.229432162T>A | CA345147342 | ACTA1 | c.640A>T (p.Ile214Phe) c.505A>T (p.Ile169Phe) c.479+245A>T (n.479+245A>T) | |
| 1 | g.229432162T>C | CA345147344 | ACTA1 | c.640A>G (p.Ile214Val) c.505A>G (p.Ile169Val) c.479+245A>G (n.479+245A>G) | ClinVar |
| 1 | g.229432162T>G | CA345147350 | ACTA1 | c.640A>C (p.Ile214Leu) c.505A>C (p.Ile169Leu) c.479+245A>C (n.479+245A>C) | |
| 1 | g.229432163G>A | CA423755246 | ACTA1 | c.639C>T (p.Asp213=) c.504C>T (p.Asp168=) c.479+244C>T (n.479+244C>T) | |
| 1 | g.229432163G>C | CA345147355 | ACTA1 | c.639C>G (p.Asp213Glu) c.504C>G (p.Asp168Glu) c.479+244C>G (n.479+244C>G) | |
| 1 | g.229432163G>T | CA345147353 | ACTA1 | c.639C>A (p.Asp213Glu) c.504C>A (p.Asp168Glu) c.479+244C>A (n.479+244C>A) | |
| 1 | g.229432164T>A | CA345147362 | ACTA1 | c.638A>T (p.Asp213Val) c.503A>T (p.Asp168Val) c.479+243A>T (n.479+243A>T) | |
| 1 | g.229432164T>C | CA345147365 | ACTA1 | c.638A>G (p.Asp213Gly) c.503A>G (p.Asp168Gly) c.479+243A>G (n.479+243A>G) | COSMIC |
| 1 | g.229432164T>G | CA345147369 | ACTA1 | c.638A>C (p.Asp213Ala) c.503A>C (p.Asp168Ala) c.479+243A>C (n.479+243A>C) | |
| 1 | g.229432165C>A | CA345147372 | ACTA1 | c.637G>T (p.Asp213Tyr) c.502G>T (p.Asp168Tyr) c.479+242G>T (n.479+242G>T) | |
| 1 | g.229432165C= | CA1226125666 | ACTA1 | c.637G= (p.Asp213=) c.502G= (p.Asp168=) c.479+242G= (n.479+242G=) | |
| 1 | g.229432165C>G | CA345147376 | ACTA1 | c.637G>C (p.Asp213His) c.502G>C (p.Asp168His) c.479+242G>C (n.479+242G>C) | |
| 1 | g.229432165C>T | CA345147378 | ACTA1 | c.637G>A (p.Asp213Asn) c.502G>A (p.Asp168Asn) c.479+242G>A (n.479+242G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432166G>A | CA423755252 | ACTA1 | c.636C>T (p.Arg212=) c.501C>T (p.Arg167=) c.479+241C>T (n.479+241C>T) | |
| 1 | g.229432166G>C | CA423755253 | ACTA1 | c.636C>G (p.Arg212=) c.501C>G (p.Arg167=) c.479+241C>G (n.479+241C>G) |