Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229432352_229432357del | CA2650926674 | ACTA1 | c.529_534del (p.Ile177_Met178del) c.394_399del (p.Ile132_Met133del) c.479+50_479+55del (n.479+50_479+55del) | gnomAD v4 |
1 | g.229432355G>A | CA423755028 | ACTA1 | c.531C>T (p.Ile177=) c.396C>T (p.Ile132=) c.479+52C>T (n.479+52C>T) | |
1 | g.229432355G>C | CA345148409 | ACTA1 | c.531C>G (p.Ile177Met) c.396C>G (p.Ile132Met) c.479+52C>G (n.479+52C>G) | |
1 | g.229432355G>T | CA423755029 | ACTA1 | c.531C>A (p.Ile177=) c.396C>A (p.Ile132=) c.479+52C>A (n.479+52C>A) | |
1 | g.229432356A>C | CA345148411 | ACTA1 | c.530T>G (p.Ile177Ser) c.395T>G (p.Ile132Ser) c.479+51T>G (n.479+51T>G) | |
1 | g.229432356A>G | CA345148413 | ACTA1 | c.530T>C (p.Ile177Thr) c.395T>C (p.Ile132Thr) c.479+51T>C (n.479+51T>C) | gnomAD v4 |
1 | g.229432356A>T | CA345148415 | ACTA1 | c.530T>A (p.Ile177Asn) c.395T>A (p.Ile132Asn) c.479+51T>A (n.479+51T>A) | |
1 | g.229432357T>A | CA345148417 | ACTA1 | c.529A>T (p.Ile177Phe) c.394A>T (p.Ile132Phe) c.479+50A>T (n.479+50A>T) | |
1 | g.229432357T>C | CA345148419 | ACTA1 | c.529A>G (p.Ile177Val) c.394A>G (p.Ile132Val) c.479+50A>G (n.479+50A>G) | ClinVar dbSNP |
1 | g.229432357T>G | CA345148420 | ACTA1 | c.529A>C (p.Ile177Leu) c.394A>C (p.Ile132Leu) c.479+50A>C (n.479+50A>C) | |
1 | g.229432357T= | CA1226125753 | ACTA1 | c.529A= (p.Ile177=) c.394A= (p.Ile132=) c.479+50A= (n.479+50A=) | |
1 | g.229432358G>A | CA423755035 | ACTA1 | c.528C>T (p.Ala176=) c.393C>T (p.Ala131=) c.479+49C>T (n.479+49C>T) | dbSNP gnomAD v2 |
1 | g.229432358G>C | CA423755034 | ACTA1 | c.528C>G (p.Ala176=) c.393C>G (p.Ala131=) c.479+49C>G (n.479+49C>G) | |
1 | g.229432358G= | CA1226125754 | ACTA1 | c.528C= (p.Ala176=) c.393C= (p.Ala131=) c.479+49C= (n.479+49C=) | |
1 | g.229432358G>T | CA423755032 | ACTA1 | c.528C>A (p.Ala176=) c.393C>A (p.Ala131=) c.479+49C>A (n.479+49C>A) | |
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.229432359G>A | CA345148424 | ACTA1 | c.527C>T (p.Ala176Val) c.392C>T (p.Ala131Val) c.479+48C>T (n.479+48C>T) | |
1 | g.229432359G>C | CA345148432 | ACTA1 | c.527C>G (p.Ala176Gly) c.392C>G (p.Ala131Gly) c.479+48C>G (n.479+48C>G) | |
1 | g.229432359G= | CA1226125755 | ACTA1 | c.527C= (p.Ala176=) c.392C= (p.Ala131=) c.479+48C= (n.479+48C=) | |
1 | g.229432359G>T | CA345148435 | ACTA1 | c.527C>A (p.Ala176Asp) c.392C>A (p.Ala131Asp) c.479+48C>A (n.479+48C>A) | dbSNP |
1 | g.229432360C>A | CA345148438 | ACTA1 | c.526G>T (p.Ala176Ser) c.391G>T (p.Ala131Ser) c.479+47G>T (n.479+47G>T) | gnomAD v4 |
1 | g.229432360C>G | CA345148439 | ACTA1 | c.526G>C (p.Ala176Pro) c.391G>C (p.Ala131Pro) c.479+47G>C (n.479+47G>C) | |
1 | g.229432360C>T | CA345148440 | ACTA1 | c.526G>A (p.Ala176Thr) c.391G>A (p.Ala131Thr) c.479+47G>A (n.479+47G>A) | gnomAD v4 |
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) |