| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 1 | g.229432166G>T | CA423755255 | ACTA1 | c.636C>A (p.Arg212=) c.501C>A (p.Arg167=) c.479+241C>A (n.479+241C>A) | |
| 1 | g.229432167C>A | CA345147390 | ACTA1 | c.635G>T (p.Arg212Leu) c.500G>T (p.Arg167Leu) c.479+240G>T (n.479+240G>T) | |
| 1 | g.229432167C>G | CA345147383 | ACTA1 | c.635G>C (p.Arg212Pro) c.500G>C (p.Arg167Pro) c.479+240G>C (n.479+240G>C) | |
| 1 | g.229432167C>T | CA345147386 | ACTA1 | c.635G>A (p.Arg212His) c.500G>A (p.Arg167His) c.479+240G>A (n.479+240G>A) | |
| 1 | g.229432168G>A | CA345147393 | ACTA1 | c.634C>T (p.Arg212Cys) c.499C>T (p.Arg167Cys) c.479+239C>T (n.479+239C>T) | |
| 1 | g.229432168G>C | CA345147394 | ACTA1 | c.634C>G (p.Arg212Gly) c.499C>G (p.Arg167Gly) c.479+239C>G (n.479+239C>G) | |
| 1 | g.229432168G>T | CA345147396 | ACTA1 | c.634C>A (p.Arg212Ser) c.499C>A (p.Arg167Ser) c.479+239C>A (n.479+239C>A) | COSMIC |
| 1 | g.229432169C>A | CA423755258 | ACTA1 | c.633G>T (p.Val211=) c.498G>T (p.Val166=) c.479+238G>T (n.479+238G>T) | |
| 1 | g.229432169C= | CA1226125667 | ACTA1 | c.633G= (p.Val211=) c.498G= (p.Val166=) c.479+238G= (n.479+238G=) | |
| 1 | g.229432169C>G | CA423755260 | ACTA1 | c.633G>C (p.Val211=) c.498G>C (p.Val166=) c.479+238G>C (n.479+238G>C) | |
| 1 | g.229432169C>T | CA38815744 | ACTA1 | c.633G>A (p.Val211=) c.498G>A (p.Val166=) c.479+238G>A (n.479+238G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432170A>C | CA345147398 | ACTA1 | c.632T>G (p.Val211Gly) c.497T>G (p.Val166Gly) c.479+237T>G (n.479+237T>G) | |
| 1 | g.229432170A>G | CA345147399 | ACTA1 | c.632T>C (p.Val211Ala) c.497T>C (p.Val166Ala) c.479+237T>C (n.479+237T>C) | |
| 1 | g.229432170A>T | CA345147403 | ACTA1 | c.632T>A (p.Val211Glu) c.497T>A (p.Val166Glu) c.479+237T>A (n.479+237T>A) | |
| 1 | g.229432171C>A | CA345147407 | ACTA1 | c.631G>T (p.Val211Leu) c.496G>T (p.Val166Leu) c.479+236G>T (n.479+236G>T) | |
| 1 | g.229432171C>G | CA345147409 | ACTA1 | c.631G>C (p.Val211Leu) c.496G>C (p.Val166Leu) c.479+236G>C (n.479+236G>C) | gnomAD v4 |
| 1 | g.229432171C>T | CA345147413 | ACTA1 | c.631G>A (p.Val211Met) c.496G>A (p.Val166Met) c.479+236G>A (n.479+236G>A) | COSMIC |
| 1 | g.229432172G>A | CA423755263 | ACTA1 | c.630C>T (p.Ile210=) c.495C>T (p.Ile165=) c.479+235C>T (n.479+235C>T) | dbSNP gnomAD v4 |
| 1 | g.229432172G>C | CA345147417 | ACTA1 | c.630C>G (p.Ile210Met) c.495C>G (p.Ile165Met) c.479+235C>G (n.479+235C>G) | ClinVar |
| 1 | g.229432172G= | CA1226125668 | ACTA1 | c.630C= (p.Ile210=) c.495C= (p.Ile165=) c.479+235C= (n.479+235C=) | |
| 1 | g.229432172G>T | CA423755264 | ACTA1 | c.630C>A (p.Ile210=) c.495C>A (p.Ile165=) c.479+235C>A (n.479+235C>A) | |
| 1 | g.229432173A>C | CA345147423 | ACTA1 | c.629T>G (p.Ile210Ser) c.494T>G (p.Ile165Ser) c.479+234T>G (n.479+234T>G) | |
| 1 | g.229432173A>G | CA345147432 | ACTA1 | c.629T>C (p.Ile210Thr) c.494T>C (p.Ile165Thr) c.479+234T>C (n.479+234T>C) | |
| 1 | g.229432173A>T | CA345147434 | ACTA1 | c.629T>A (p.Ile210Asn) c.494T>A (p.Ile165Asn) c.479+234T>A (n.479+234T>A) | |
| 1 | g.229432174T>A | CA345147443 | ACTA1 | c.628A>T (p.Ile210Phe) c.493A>T (p.Ile165Phe) c.479+233A>T (n.479+233A>T) | gnomAD v4 |
| 1 | g.229432174T>C | CA345147439 | ACTA1 | c.628A>G (p.Ile210Val) c.493A>G (p.Ile165Val) c.479+233A>G (n.479+233A>G) | |
| 1 | g.229432174T>G | CA345147441 | ACTA1 | c.628A>C (p.Ile210Leu) c.493A>C (p.Ile165Leu) c.479+233A>C (n.479+233A>C) | |
| 1 | g.229432175C>A | CA345147447 | ACTA1 | c.627G>T (p.Glu209Asp) c.492G>T (p.Glu164Asp) c.479+232G>T (n.479+232G>T) | ClinVar |
| 1 | g.229432175C= | CA1226125669 | ACTA1 | c.627G= (p.Glu209=) c.492G= (p.Glu164=) c.479+232G= (n.479+232G=) | |
| 1 | g.229432175C>G | CA345147450 | ACTA1 | c.627G>C (p.Glu209Asp) c.492G>C (p.Glu164Asp) c.479+232G>C (n.479+232G>C) | ClinVar |
| 1 | g.229432175C>T | CA423755268 | ACTA1 | c.627G>A (p.Glu209=) c.492G>A (p.Glu164=) c.479+232G>A (n.479+232G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432176T>A | CA345147457 | ACTA1 | c.626A>T (p.Glu209Val) c.491A>T (p.Glu164Val) c.479+231A>T (n.479+231A>T) | |
| 1 | g.229432176T>C | CA345147461 | ACTA1 | c.626A>G (p.Glu209Gly) c.491A>G (p.Glu164Gly) c.479+231A>G (n.479+231A>G) | |
| 1 | g.229432176T>G | CA345147464 | ACTA1 | c.626A>C (p.Glu209Ala) c.491A>C (p.Glu164Ala) c.479+231A>C (n.479+231A>C) | |
| 1 | g.229432177C>A | CA345147474 | ACTA1 | c.625G>T (p.Glu209Ter) c.490G>T (p.Glu164Ter) c.479+230G>T (n.479+230G>T) | |
| 1 | g.229432177C>G | CA345147477 | ACTA1 | c.625G>C (p.Glu209Gln) c.490G>C (p.Glu164Gln) c.479+230G>C (n.479+230G>C) | |
| 1 | g.229432177C>T | CA345147479 | ACTA1 | c.625G>A (p.Glu209Lys) c.490G>A (p.Glu164Lys) c.479+230G>A (n.479+230G>A) | |
| 1 | g.229432178G>A | CA423755272 | ACTA1 | c.624C>T (p.Arg208=) c.489C>T (p.Arg163=) c.479+229C>T (n.479+229C>T) |