| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432787_229432788delinsAA | CA2586968418 | ACTA1 | c.222_223delinsTT (p.Glu74_His75delinsAspTyr) c.87_88delinsTT (p.Glu29_His30delinsAspTyr) | |
| 1 | g.229432788C>A | CA084466 | ACTA1 | c.222G>T (p.Glu74Asp) c.87G>T (p.Glu29Asp) | dbSNP |
| 1 | g.229432788C= | CA1143538619 | ACTA1 | c.222G= (p.Glu74=) c.87G= (p.Glu29=) | |
| 1 | g.229432788C>G | CA345150553 | ACTA1 | c.222G>C (p.Glu74Asp) c.87G>C (p.Glu29Asp) | |
| 1 | g.229432788C>T | CA423755437 | ACTA1 | c.222G>A (p.Glu74=) c.87G>A (p.Glu29=) | COSMIC |
| 1 | g.229432789T>A | CA345150560 | ACTA1 | c.221A>T (p.Glu74Val) c.86A>T (p.Glu29Val) | |
| 1 | g.229432789T>C | CA345150573 | ACTA1 | c.221A>G (p.Glu74Gly) c.86A>G (p.Glu29Gly) | |
| 1 | g.229432789T>G | CA345150589 | ACTA1 | c.221A>C (p.Glu74Ala) c.86A>C (p.Glu29Ala) | |
| 1 | g.229432790C>A | CA345150593 | ACTA1 | c.220G>T (p.Glu74Ter) c.85G>T (p.Glu29Ter) | gnomAD v4 |
| 1 | g.229432790C= | CA1148225035 | ACTA1 | c.220G= (p.Glu74=) c.85G= (p.Glu29=) | |
| 1 | g.229432790C>G | CA233443 | ACTA1 | c.220G>C (p.Glu74Gln) c.85G>C (p.Glu29Gln) | ClinVar dbSNP |
| 1 | g.229432790C>T | CA345150600 | ACTA1 | c.220G>A (p.Glu74Lys) c.85G>A (p.Glu29Lys) | |
| 1 | g.229432791G>A | CA423755441 | ACTA1 | c.219C>T (p.Ile73=) c.84C>T (p.Ile28=) | |
| 1 | g.229432791G>C | CA345150605 | ACTA1 | c.219C>G (p.Ile73Met) c.84C>G (p.Ile28Met) | gnomAD v4 COSMIC |
| 1 | g.229432791G>T | CA423755440 | ACTA1 | c.219C>A (p.Ile73=) c.84C>A (p.Ile28=) | dbSNP |
| 1 | g.229432792A= | CA1226125963 | ACTA1 | c.218T= (p.Ile73=) c.83T= (p.Ile28=) | |
| 1 | g.229432792A>C | CA345150606 | ACTA1 | c.218T>G (p.Ile73Ser) c.83T>G (p.Ile28Ser) | ClinVar dbSNP |
| 1 | g.229432792A>G | CA345150607 | ACTA1 | c.218T>C (p.Ile73Thr) c.83T>C (p.Ile28Thr) | |
| 1 | g.229432792A>T | CA345150608 | ACTA1 | c.218T>A (p.Ile73Asn) c.83T>A (p.Ile28Asn) | |
| 1 | g.229432793T>A | CA345150614 | ACTA1 | c.217A>T (p.Ile73Phe) c.82A>T (p.Ile28Phe) | |
| 1 | g.229432793T>C | CA345150612 | ACTA1 | c.217A>G (p.Ile73Val) c.82A>G (p.Ile28Val) | ClinVar dbSNP |
| 1 | g.229432793T>G | CA345150610 | ACTA1 | c.217A>C (p.Ile73Leu) c.82A>C (p.Ile28Leu) | |
| 1 | g.229432793T= | CA1226125964 | ACTA1 | c.217A= (p.Ile73=) c.82A= (p.Ile28=) | |
| 1 | g.229432793dup | CA915942047 | ACTA1 | c.217dup (p.Ile73AsnfsTer11) c.82dup (p.Ile28AsnfsTer11) | ClinVar dbSNP |
| 1 | g.229432794A= | CA1226125965 | ACTA1 | c.216T= (p.Pro72=) c.81T= (p.Pro27=) | |
| 1 | g.229432794A>C | CA423755446 | ACTA1 | c.216T>G (p.Pro72=) c.81T>G (p.Pro27=) | |
| 1 | g.229432794A>G | CA423755448 | ACTA1 | c.216T>C (p.Pro72=) c.81T>C (p.Pro27=) | dbSNP |
| 1 | g.229432794A>T | CA423755449 | ACTA1 | c.216T>A (p.Pro72=) c.81T>A (p.Pro27=) | ClinVar |
| 1 | g.229432799_229432808del | CA2650926823 | ACTA1 | c.207_216del (p.Lys70SerfsTer?) c.72_81del (p.Lys25SerfsTer?) | gnomAD v4 |
| 1 | g.229432795G>A | CA345150622 | ACTA1 | c.215C>T (p.Pro72Leu) c.80C>T (p.Pro27Leu) | ClinVar |
| 1 | g.229432795G>C | CA345150617 | ACTA1 | c.215C>G (p.Pro72Arg) c.80C>G (p.Pro27Arg) | ClinVar dbSNP |
| 1 | g.229432795G= | CA1226125966 | ACTA1 | c.215C= (p.Pro72=) c.80C= (p.Pro27=) | |
| 1 | g.229432795G>T | CA345150619 | ACTA1 | c.215C>A (p.Pro72His) c.80C>A (p.Pro27His) | |
| 1 | g.229432796G>A | CA345150625 | ACTA1 | c.214C>T (p.Pro72Ser) c.79C>T (p.Pro27Ser) | |
| 1 | g.229432796G>C | CA345150629 | ACTA1 | c.214C>G (p.Pro72Ala) c.79C>G (p.Pro27Ala) | |
| 1 | g.229432796G>T | CA345150632 | ACTA1 | c.214C>A (p.Pro72Thr) c.79C>A (p.Pro27Thr) | |
| 1 | g.229432797G>A | CA38816583 | ACTA1 | c.213C>T (p.Tyr71=) c.78C>T (p.Tyr26=) | dbSNP gnomAD v4 |
| 1 | g.229432797G>C | CA345150635 | ACTA1 | c.213C>G (p.Tyr71Ter) c.78C>G (p.Tyr26Ter) | |
| 1 | g.229432797G= | CA1226125967 | ACTA1 | c.213C= (p.Tyr71=) c.78C= (p.Tyr26=) | |
| 1 | g.229432797G>T | CA345150637 | ACTA1 | c.213C>A (p.Tyr71Ter) c.78C>A (p.Tyr26Ter) | |
| 1 | g.229432798T>A | CA345150642 | ACTA1 | c.212A>T (p.Tyr71Phe) c.77A>T (p.Tyr26Phe) | |
| 1 | g.229432798T>C | CA345150640 | ACTA1 | c.212A>G (p.Tyr71Cys) c.77A>G (p.Tyr26Cys) | |
| 1 | g.229432798T>G | CA345150641 | ACTA1 | c.212A>C (p.Tyr71Ser) c.77A>C (p.Tyr26Ser) | |
| 1 | g.229432799A>C | CA345150643 | ACTA1 | c.211T>G (p.Tyr71Asp) c.76T>G (p.Tyr26Asp) | |
| 1 | g.229432799A>G | CA345150644 | ACTA1 | c.211T>C (p.Tyr71His) c.76T>C (p.Tyr26His) | |
| 1 | g.229432799A>T | CA345150645 | ACTA1 | c.211T>A (p.Tyr71Asn) c.76T>A (p.Tyr26Asn) | |
| 1 | g.229432800C>A | CA345150648 | ACTA1 | c.210G>T (p.Lys70Asn) c.75G>T (p.Lys25Asn) | |
| 1 | g.229432800C>G | CA345150649 | ACTA1 | c.210G>C (p.Lys70Asn) c.75G>C (p.Lys25Asn) | |
| 1 | g.229432800C>T | CA423755458 | ACTA1 | c.210G>A (p.Lys70=) c.75G>A (p.Lys25=) | ClinVar |
| 1 | g.229432801T>A | CA345150652 | ACTA1 | c.209A>T (p.Lys70Met) c.74A>T (p.Lys25Met) |