Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229432361_229432391del | CA2573051509 | ACTA1 | c.498_528del (p.Ile167SerfsTer15) c.363_393del (p.Ile122SerfsTer15) c.479+19_479+49del (n.479+19_479+49del) | ClinVar dbSNP |
1 | g.229432361G>A | CA423755036 | ACTA1 | c.525C>T (p.His175=) c.390C>T (p.His130=) c.479+46C>T (n.479+46C>T) | dbSNP |
1 | g.229432361G>C | CA345148443 | ACTA1 | c.525C>G (p.His175Gln) c.390C>G (p.His130Gln) c.479+46C>G (n.479+46C>G) | |
1 | g.229432361G>T | CA345148441 | ACTA1 | c.525C>A (p.His175Gln) c.390C>A (p.His130Gln) c.479+46C>A (n.479+46C>A) | |
1 | g.229432362T>A | CA345148444 | ACTA1 | c.524A>T (p.His175Leu) c.389A>T (p.His130Leu) c.479+45A>T (n.479+45A>T) | |
1 | g.229432362T>C | CA345148450 | ACTA1 | c.524A>G (p.His175Arg) c.389A>G (p.His130Arg) c.479+45A>G (n.479+45A>G) | |
1 | g.229432362T>G | CA345148453 | ACTA1 | c.524A>C (p.His175Pro) c.389A>C (p.His130Pro) c.479+45A>C (n.479+45A>C) | |
1 | g.229432363G>A | CA345148456 | ACTA1 | c.523C>T (p.His175Tyr) c.388C>T (p.His130Tyr) c.479+44C>T (n.479+44C>T) | |
1 | g.229432363G>C | CA345148457 | ACTA1 | c.523C>G (p.His175Asp) c.388C>G (p.His130Asp) c.479+44C>G (n.479+44C>G) | |
1 | g.229432363G>T | CA345148458 | ACTA1 | c.523C>A (p.His175Asn) c.388C>A (p.His130Asn) c.479+44C>A (n.479+44C>A) | |
1 | g.229432364C>A | CA423755039 | ACTA1 | c.522G>T (p.Pro174=) c.387G>T (p.Pro129=) c.479+43G>T (n.479+43G>T) | dbSNP |
1 | g.229432364C= | CA1226125756 | ACTA1 | c.522G= (p.Pro174=) c.387G= (p.Pro129=) c.479+43G= (n.479+43G=) | |
1 | g.229432364C>G | CA423755040 | ACTA1 | c.522G>C (p.Pro174=) c.387G>C (p.Pro129=) c.479+43G>C (n.479+43G>C) | |
1 | g.229432364C>T | CA1442846 | ACTA1 | c.522G>A (p.Pro174=) c.387G>A (p.Pro129=) c.479+43G>A (n.479+43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.229432365G>A | CA16043983 | ACTA1 | c.521C>T (p.Pro174Leu) c.386C>T (p.Pro129Leu) c.479+42C>T (n.479+42C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.229432365G>C | CA345148469 | ACTA1 | c.521C>G (p.Pro174Arg) c.386C>G (p.Pro129Arg) c.479+42C>G (n.479+42C>G) | ClinVar dbSNP |
1 | g.229432365G= | CA1226125757 | ACTA1 | c.521C= (p.Pro174=) c.386C= (p.Pro129=) c.479+42C= (n.479+42C=) | |
1 | g.229432365G>T | CA345148473 | ACTA1 | c.521C>A (p.Pro174Gln) c.386C>A (p.Pro129Gln) c.479+42C>A (n.479+42C>A) | |
1 | g.229432366G>A | CA345148474 | ACTA1 | c.520C>T (p.Pro174Ser) c.385C>T (p.Pro129Ser) c.479+41C>T (n.479+41C>T) | gnomAD v4 |
1 | g.229432366G>C | CA345148477 | ACTA1 | c.520C>G (p.Pro174Ala) c.385C>G (p.Pro129Ala) c.479+41C>G (n.479+41C>G) | |
1 | g.229432366G>T | CA345148479 | ACTA1 | c.520C>A (p.Pro174Thr) c.385C>A (p.Pro129Thr) c.479+41C>A (n.479+41C>A) | |
1 | g.229432367C>A | CA423755042 | ACTA1 | c.519G>T (p.Leu173=) c.384G>T (p.Leu128=) c.479+40G>T (n.479+40G>T) | |
1 | g.229432367C>G | CA423755044 | ACTA1 | c.519G>C (p.Leu173=) c.384G>C (p.Leu128=) c.479+40G>C (n.479+40G>C) | |
1 | g.229432367C>T | CA423755045 | ACTA1 | c.519G>A (p.Leu173=) c.384G>A (p.Leu128=) c.479+40G>A (n.479+40G>A) | |
1 | g.229432368A>C | CA345148482 | ACTA1 | c.518T>G (p.Leu173Arg) c.383T>G (p.Leu128Arg) c.479+39T>G (n.479+39T>G) | |
1 | g.229432368A>G | CA345148512 | ACTA1 | c.518T>C (p.Leu173Pro) c.383T>C (p.Leu128Pro) c.479+39T>C (n.479+39T>C) | |
1 | g.229432368A>T | CA345148492 | ACTA1 | c.518T>A (p.Leu173Gln) c.383T>A (p.Leu128Gln) c.479+39T>A (n.479+39T>A) | |
1 | g.229432369G>A | CA423755047 | ACTA1 | c.517C>T (p.Leu173=) c.382C>T (p.Leu128=) c.479+38C>T (n.479+38C>T) | |
1 | g.229432369G>C | CA345148517 | ACTA1 | c.517C>G (p.Leu173Val) c.382C>G (p.Leu128Val) c.479+38C>G (n.479+38C>G) | |
1 | g.229432369G>T | CA345148519 | ACTA1 | c.517C>A (p.Leu173Met) c.382C>A (p.Leu128Met) c.479+38C>A (n.479+38C>A) | ClinVar dbSNP |
1 | g.229432370C>A | CA423755048 | ACTA1 | c.516G>T (p.Ala172=) c.381G>T (p.Ala127=) c.479+37G>T (n.479+37G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432370C= | CA1226125758 | ACTA1 | c.516G= (p.Ala172=) c.381G= (p.Ala127=) c.479+37G= (n.479+37G=) | |
1 | g.229432370C>G | CA423755049 | ACTA1 | c.516G>C (p.Ala172=) c.381G>C (p.Ala127=) c.479+37G>C (n.479+37G>C) | ClinVar dbSNP |
1 | g.229432370C>T | CA423755050 | ACTA1 | c.516G>A (p.Ala172=) c.381G>A (p.Ala127=) c.479+37G>A (n.479+37G>A) | |
1 | g.229432371G>A | CA345148520 | ACTA1 | c.515C>T (p.Ala172Val) c.380C>T (p.Ala127Val) c.479+36C>T (n.479+36C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.229432371G>C | CA345148521 | ACTA1 | c.515C>G (p.Ala172Gly) c.380C>G (p.Ala127Gly) c.479+36C>G (n.479+36C>G) | |
1 | g.229432371G= | CA1148225033 | ACTA1 | c.515C= (p.Ala172=) c.380C= (p.Ala127=) c.479+36C= (n.479+36C=) | |
1 | g.229432371G>T | CA151571 | ACTA1 | c.515C>A (p.Ala172Glu) c.380C>A (p.Ala127Glu) c.479+36C>A (n.479+36C>A) | ClinVar dbSNP |
1 | g.229432372C>A | CA345148522 | ACTA1 | c.514G>T (p.Ala172Ser) c.379G>T (p.Ala127Ser) c.479+35G>T (n.479+35G>T) | |
1 | g.229432372C>G | CA345148524 | ACTA1 | c.514G>C (p.Ala172Pro) c.379G>C (p.Ala127Pro) c.479+35G>C (n.479+35G>C) | |
1 | g.229432372C>T | CA345148528 | ACTA1 | c.514G>A (p.Ala172Thr) c.379G>A (p.Ala127Thr) c.479+35G>A (n.479+35G>A) | |
1 | g.229432373G>A | CA423755054 | ACTA1 | c.513C>T (p.Tyr171=) c.378C>T (p.Tyr126=) c.479+34C>T (n.479+34C>T) | dbSNP |
1 | g.229432373G>C | CA345148536 | ACTA1 | c.513C>G (p.Tyr171Ter) c.378C>G (p.Tyr126Ter) c.479+34C>G (n.479+34C>G) | |
1 | g.229432373G= | CA1226125759 | ACTA1 | c.513C= (p.Tyr171=) c.378C= (p.Tyr126=) c.479+34C= (n.479+34C=) | |
1 | g.229432373G>T | CA345148538 | ACTA1 | c.513C>A (p.Tyr171Ter) c.378C>A (p.Tyr126Ter) c.479+34C>A (n.479+34C>A) | |
1 | g.229432374T>A | CA345148541 | ACTA1 | c.512A>T (p.Tyr171Phe) c.377A>T (p.Tyr126Phe) c.479+33A>T (n.479+33A>T) | |
1 | g.229432374T>C | CA345148543 | ACTA1 | c.512A>G (p.Tyr171Cys) c.377A>G (p.Tyr126Cys) c.479+33A>G (n.479+33A>G) | |
1 | g.229432374T>G | CA345148545 | ACTA1 | c.512A>C (p.Tyr171Ser) c.377A>C (p.Tyr126Ser) c.479+33A>C (n.479+33A>C) | |
1 | g.229432375A= | CA1226125760 | ACTA1 | c.511T= (p.Tyr171=) c.376T= (p.Tyr126=) c.479+32T= (n.479+32T=) | |
1 | g.229432375A>C | CA345148556 | ACTA1 | c.511T>G (p.Tyr171Asp) c.376T>G (p.Tyr126Asp) c.479+32T>G (n.479+32T>G) |