Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.229432178G>C | CA423755273 | ACTA1 | c.624C>G (p.Arg208=) c.489C>G (p.Arg163=) c.479+229C>G (n.479+229C>G) | |
1 | g.229432178G= | CA1226125670 | ACTA1 | c.624C= (p.Arg208=) c.489C= (p.Arg163=) c.479+229C= (n.479+229C=) | |
1 | g.229432178G>T | CA1442817 | ACTA1 | c.624C>A (p.Arg208=) c.489C>A (p.Arg163=) c.479+229C>A (n.479+229C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432179C>A | CA345147489 | ACTA1 | c.623G>T (p.Arg208Leu) c.488G>T (p.Arg163Leu) c.479+228G>T (n.479+228G>T) | dbSNP gnomAD v4 |
1 | g.229432179C= | CA1226125671 | ACTA1 | c.623G= (p.Arg208=) c.488G= (p.Arg163=) c.479+228G= (n.479+228G=) | |
1 | g.229432179C>G | CA345147492 | ACTA1 | c.623G>C (p.Arg208Pro) c.488G>C (p.Arg163Pro) c.479+228G>C (n.479+228G>C) | |
1 | g.229432179C>T | CA345147495 | ACTA1 | c.623G>A (p.Arg208His) c.488G>A (p.Arg163His) c.479+228G>A (n.479+228G>A) | dbSNP COSMIC |
1 | g.229432180G>A | CA345147498 | ACTA1 | c.622C>T (p.Arg208Cys) c.487C>T (p.Arg163Cys) c.479+227C>T (n.479+227C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432180G>C | CA345147503 | ACTA1 | c.622C>G (p.Arg208Gly) c.487C>G (p.Arg163Gly) c.479+227C>G (n.479+227C>G) | |
1 | g.229432180G= | CA1142245544 | ACTA1 | c.622C= (p.Arg208=) c.487C= (p.Arg163=) c.479+227C= (n.479+227C=) | |
1 | g.229432180G>T | CA1442818 | ACTA1 | c.622C>A (p.Arg208Ser) c.487C>A (p.Arg163Ser) c.479+227C>A (n.479+227C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432181C>A | CA345147510 | ACTA1 | c.621G>T (p.Glu207Asp) c.486G>T (p.Glu162Asp) c.479+226G>T (n.479+226G>T) | |
1 | g.229432181C= | CA1143538617 | ACTA1 | c.621G= (p.Glu207=) c.486G= (p.Glu162=) c.479+226G= (n.479+226G=) | |
1 | g.229432181C>G | CA344560 | ACTA1 | c.621G>C (p.Glu207Asp) c.486G>C (p.Glu162Asp) c.479+226G>C (n.479+226G>C) | ClinVar dbSNP |
1 | g.229432181C>T | CA423755275 | ACTA1 | c.621G>A (p.Glu207=) c.486G>A (p.Glu162=) c.479+226G>A (n.479+226G>A) | |
1 | g.229432182T>A | CA345147522 | ACTA1 | c.620A>T (p.Glu207Val) c.485A>T (p.Glu162Val) c.479+225A>T (n.479+225A>T) | ClinVar |
1 | g.229432182T>C | CA345147525 | ACTA1 | c.620A>G (p.Glu207Gly) c.485A>G (p.Glu162Gly) c.479+225A>G (n.479+225A>G) | |
1 | g.229432182T>G | CA345147528 | ACTA1 | c.620A>C (p.Glu207Ala) c.485A>C (p.Glu162Ala) c.479+225A>C (n.479+225A>C) | |
1 | g.229432182dup | CA2650926641 | ACTA1 | c.620dup (p.Arg208AlafsTer?) c.485dup (p.Arg163AlafsTer?) c.479+225dup (n.479+225dup) | gnomAD v4 |
1 | g.229432183C>A | CA345147531 | ACTA1 | c.619G>T (p.Glu207Ter) c.484G>T (p.Glu162Ter) c.479+224G>T (n.479+224G>T) | dbSNP |
1 | g.229432183C= | CA1226125672 | ACTA1 | c.619G= (p.Glu207=) c.484G= (p.Glu162=) c.479+224G= (n.479+224G=) | |
1 | g.229432183C>G | CA345147534 | ACTA1 | c.619G>C (p.Glu207Gln) c.484G>C (p.Glu162Gln) c.479+224G>C (n.479+224G>C) | |
1 | g.229432183C>T | CA345147539 | ACTA1 | c.619G>A (p.Glu207Lys) c.484G>A (p.Glu162Lys) c.479+224G>A (n.479+224G>A) | |
1 | g.229432184A>C | CA423755279 | ACTA1 | c.618T>G (p.Ala206=) c.483T>G (p.Ala161=) c.479+223T>G (n.479+223T>G) | |
1 | g.229432184A>G | CA423755281 | ACTA1 | c.618T>C (p.Ala206=) c.483T>C (p.Ala161=) c.479+223T>C (n.479+223T>C) | gnomAD v4 |
1 | g.229432184A>T | CA423755280 | ACTA1 | c.618T>A (p.Ala206=) c.483T>A (p.Ala161=) c.479+223T>A (n.479+223T>A) | |
1 | g.229432185G>A | CA345147543 | ACTA1 | c.617C>T (p.Ala206Val) c.482C>T (p.Ala161Val) c.479+222C>T (n.479+222C>T) | ClinVar dbSNP |
1 | g.229432185G>C | CA345147547 | ACTA1 | c.617C>G (p.Ala206Gly) c.482C>G (p.Ala161Gly) c.479+222C>G (n.479+222C>G) | |
1 | g.229432185G= | CA1226125673 | ACTA1 | c.617C= (p.Ala206=) c.482C= (p.Ala161=) c.479+222C= (n.479+222C=) | |
1 | g.229432185G>T | CA345147549 | ACTA1 | c.617C>A (p.Ala206Asp) c.482C>A (p.Ala161Asp) c.479+222C>A (n.479+222C>A) | |
1 | g.229432186C>A | CA345147550 | ACTA1 | c.617-1G>T (n.617-1G>T) c.482-1G>T (n.482-1G>T) c.479+221G>T (n.479+221G>T) | |
1 | g.229432186C>G | CA345147551 | ACTA1 | c.617-1G>C (n.617-1G>C) c.482-1G>C (n.482-1G>C) c.479+221G>C (n.479+221G>C) | |
1 | g.229432186C>T | CA345147552 | ACTA1 | c.617-1G>A (n.617-1G>A) c.482-1G>A (n.482-1G>A) c.479+221G>A (n.479+221G>A) |