UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432623G>A | CA423755126 | ACTA1 | c.387C>T (p.Phe129=) c.252C>T (p.Phe84=) | dbSNP |
| 1 | g.229432623G>C | CA345149446 | ACTA1 | c.387C>G (p.Phe129Leu) c.252C>G (p.Phe84Leu) | |
| 1 | g.229432623G= | CA1226125902 | ACTA1 | c.387C= (p.Phe129=) c.252C= (p.Phe84=) | |
| 1 | g.229432623G>T | CA345149449 | ACTA1 | c.387C>A (p.Phe129Leu) c.252C>A (p.Phe84Leu) | |
| 1 | g.229432624A>C | CA345149456 | ACTA1 | c.386T>G (p.Phe129Cys) c.251T>G (p.Phe84Cys) | |
| 1 | g.229432624A>G | CA345149457 | ACTA1 | c.386T>C (p.Phe129Ser) c.251T>C (p.Phe84Ser) | |
| 1 | g.229432624A>T | CA345149458 | ACTA1 | c.386T>A (p.Phe129Tyr) c.251T>A (p.Phe84Tyr) | |
| 1 | g.229432625A>C | CA345149461 | ACTA1 | c.385T>G (p.Phe129Val) c.250T>G (p.Phe84Val) | |
| 1 | g.229432625A>G | CA345149464 | ACTA1 | c.385T>C (p.Phe129Leu) c.250T>C (p.Phe84Leu) | |
| 1 | g.229432625A>T | CA345149465 | ACTA1 | c.385T>A (p.Phe129Ile) c.250T>A (p.Phe84Ile) | |
| 1 | g.229432626G>A | CA423755128 | ACTA1 | c.384C>T (p.Thr128=) c.249C>T (p.Thr83=) | |
| 1 | g.229432626G>C | CA423755130 | ACTA1 | c.384C>G (p.Thr128=) c.249C>G (p.Thr83=) | |
| 1 | g.229432626G>T | CA423755132 | ACTA1 | c.384C>A (p.Thr128=) c.249C>A (p.Thr83=) | |
| 1 | g.229432627G>A | CA345149470 | ACTA1 | c.383C>T (p.Thr128Ile) c.248C>T (p.Thr83Ile) | |
| 1 | g.229432627G>C | CA345149468 | ACTA1 | c.383C>G (p.Thr128Ser) c.248C>G (p.Thr83Ser) | |
| 1 | g.229432627G>T | CA345149467 | ACTA1 | c.383C>A (p.Thr128Asn) c.248C>A (p.Thr83Asn) | |
| 1 | g.229432628T>A | CA345149481 | ACTA1 | c.382A>T (p.Thr128Ser) c.247A>T (p.Thr83Ser) | |
| 1 | g.229432628T>C | CA345149472 | ACTA1 | c.382A>G (p.Thr128Ala) c.247A>G (p.Thr83Ala) | |
| 1 | g.229432628T>G | CA345149474 | ACTA1 | c.382A>C (p.Thr128Pro) c.247A>C (p.Thr83Pro) | |
| 1 | g.229432629C>A | CA345149482 | ACTA1 | c.381G>T (p.Glu127Asp) c.246G>T (p.Glu82Asp) | |
| 1 | g.229432629C>G | CA345149483 | ACTA1 | c.381G>C (p.Glu127Asp) c.246G>C (p.Glu82Asp) | |
| 1 | g.229432629C>T | CA423755139 | ACTA1 | c.381G>A (p.Glu127=) c.246G>A (p.Glu82=) | |
| 1 | g.229432630T>A | CA345149484 | ACTA1 | c.380A>T (p.Glu127Val) c.245A>T (p.Glu82Val) | |
| 1 | g.229432630T>C | CA345149485 | ACTA1 | c.380A>G (p.Glu127Gly) c.245A>G (p.Glu82Gly) | |
| 1 | g.229432630T>G | CA345149486 | ACTA1 | c.380A>C (p.Glu127Ala) c.245A>C (p.Glu82Ala) | |
| 1 | g.229432631C>A | CA345149489 | ACTA1 | c.379G>T (p.Glu127Ter) c.244G>T (p.Glu82Ter) | |
| 1 | g.229432631C>G | CA345149491 | ACTA1 | c.379G>C (p.Glu127Gln) c.244G>C (p.Glu82Gln) | |
| 1 | g.229432631C>T | CA345149498 | ACTA1 | c.379G>A (p.Glu127Lys) c.244G>A (p.Glu82Lys) | |
| 1 | g.229432631_229432632delinsCA | CA1226125903 | ACTA1 | c.378_379delinsTG (p.Phe126=) c.243_244delinsTG (p.Phe81=) | |
| 1 | g.229432632A= | CA1143560129 | ACTA1 | c.378T= (p.Phe126=) c.243T= (p.Phe81=) | |
| 1 | g.229432632A>C | CA345149502 | ACTA1 | c.378T>G (p.Phe126Leu) c.243T>G (p.Phe81Leu) | |
| 1 | g.229432632A>G | CA38816322 | ACTA1 | c.378T>C (p.Phe126=) c.243T>C (p.Phe81=) | dbSNP |
| 1 | g.229432632A>T | CA345149507 | ACTA1 | c.378T>A (p.Phe126Leu) c.243T>A (p.Phe81Leu) | |
| 1 | g.229432634del | CA529915287 | ACTA1 | c.378del (p.Phe126LeufsTer?) c.243del (p.Phe81LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432633A>C | CA345149515 | ACTA1 | c.377T>G (p.Phe126Cys) c.242T>G (p.Phe81Cys) | |
| 1 | g.229432633A>G | CA345149510 | ACTA1 | c.377T>C (p.Phe126Ser) c.242T>C (p.Phe81Ser) | |
| 1 | g.229432633A>T | CA345149513 | ACTA1 | c.377T>A (p.Phe126Tyr) c.242T>A (p.Phe81Tyr) | gnomAD v4 |
| 1 | g.229432634A>C | CA345149519 | ACTA1 | c.376T>G (p.Phe126Val) c.241T>G (p.Phe81Val) | |
| 1 | g.229432634A>G | CA345149521 | ACTA1 | c.376T>C (p.Phe126Leu) c.241T>C (p.Phe81Leu) | |
| 1 | g.229432634A>T | CA345149529 | ACTA1 | c.376T>A (p.Phe126Ile) c.241T>A (p.Phe81Ile) | |
| 1 | g.229432635C>A | CA345149531 | ACTA1 | c.375G>T (p.Met125Ile) c.240G>T (p.Met80Ile) | |
| 1 | g.229432635C>G | CA345149533 | ACTA1 | c.375G>C (p.Met125Ile) c.240G>C (p.Met80Ile) | |
| 1 | g.229432635C>T | CA345149536 | ACTA1 | c.375G>A (p.Met125Ile) c.240G>A (p.Met80Ile) | |
| 1 | g.229432636A>C | CA345149538 | ACTA1 | c.374T>G (p.Met125Arg) c.239T>G (p.Met80Arg) | |
| 1 | g.229432636A>G | CA345149541 | ACTA1 | c.374T>C (p.Met125Thr) c.239T>C (p.Met80Thr) | gnomAD v4 |
| 1 | g.229432636A>T | CA345149543 | ACTA1 | c.374T>A (p.Met125Lys) c.239T>A (p.Met80Lys) | |
| 1 | g.229432637T>A | CA345149559 | ACTA1 | c.373A>T (p.Met125Leu) c.238A>T (p.Met80Leu) | |
| 1 | g.229432637T>C | CA345149562 | ACTA1 | c.373A>G (p.Met125Val) c.238A>G (p.Met80Val) | |
| 1 | g.229432637T>G | CA345149570 | ACTA1 | c.373A>C (p.Met125Leu) c.238A>C (p.Met80Leu) | |
| 1 | g.229432638G>A | CA423755150 | ACTA1 | c.372C>T (p.Ile124=) c.237C>T (p.Ile79=) | |
| 1 | g.229432638G>C | CA345149572 | ACTA1 | c.372C>G (p.Ile124Met) c.237C>G (p.Ile79Met) | |
| 1 | g.229432638G>T | CA423755151 | ACTA1 | c.372C>A (p.Ile124=) c.237C>A (p.Ile79=) | |
| 1 | g.229432639A>C | CA345149576 | ACTA1 | c.371T>G (p.Ile124Ser) c.236T>G (p.Ile79Ser) | |
| 1 | g.229432639A>G | CA345149577 | ACTA1 | c.371T>C (p.Ile124Thr) c.236T>C (p.Ile79Thr) | |
| 1 | g.229432639A>T | CA345149575 | ACTA1 | c.371T>A (p.Ile124Asn) c.236T>A (p.Ile79Asn) | |
| 1 | g.229432640T>A | CA345149579 | ACTA1 | c.370A>T (p.Ile124Phe) c.235A>T (p.Ile79Phe) | |
| 1 | g.229432640T>C | CA345149583 | ACTA1 | c.370A>G (p.Ile124Val) c.235A>G (p.Ile79Val) | ClinVar |
| 1 | g.229432640T>G | CA345149581 | ACTA1 | c.370A>C (p.Ile124Leu) c.235A>C (p.Ile79Leu) | |
| 1 | g.229432641C>A | CA345149585 | ACTA1 | c.369G>T (p.Gln123His) c.234G>T (p.Gln78His) | gnomAD v4 |
| 1 | g.229432641C= | CA1226125904 | ACTA1 | c.369G= (p.Gln123=) c.234G= (p.Gln78=) | |
| 1 | g.229432641C>G | CA345149587 | ACTA1 | c.369G>C (p.Gln123His) c.234G>C (p.Gln78His) | |
| 1 | g.229432641C>T | CA423755153 | ACTA1 | c.369G>A (p.Gln123=) c.234G>A (p.Gln78=) | dbSNP |
| 1 | g.229432642T>A | CA345149590 | ACTA1 | c.368A>T (p.Gln123Leu) c.233A>T (p.Gln78Leu) | |
| 1 | g.229432642T>C | CA345149592 | ACTA1 | c.368A>G (p.Gln123Arg) c.233A>G (p.Gln78Arg) | |
| 1 | g.229432642T>G | CA345149593 | ACTA1 | c.368A>C (p.Gln123Pro) c.233A>C (p.Gln78Pro) | |
| 1 | g.229432643G>A | CA345149597 | ACTA1 | c.367C>T (p.Gln123Ter) c.232C>T (p.Gln78Ter) | COSMIC |
| 1 | g.229432643G>C | CA345149599 | ACTA1 | c.367C>G (p.Gln123Glu) c.232C>G (p.Gln78Glu) | |
| 1 | g.229432643G>T | CA345149601 | ACTA1 | c.367C>A (p.Gln123Lys) c.232C>A (p.Gln78Lys) | COSMIC |
| 1 | g.229432644G>A | CA38816324 | ACTA1 | c.366C>T (p.Thr122=) c.231C>T (p.Thr77=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432644G>C | CA423755157 | ACTA1 | c.366C>G (p.Thr122=) c.231C>G (p.Thr77=) | |
| 1 | g.229432644G= | CA1143406015 | ACTA1 | c.366C= (p.Thr122=) c.231C= (p.Thr77=) | |
| 1 | g.229432644G>T | CA1442890 | ACTA1 | c.366C>A (p.Thr122=) c.231C>A (p.Thr77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432645G>A | CA345149619 | ACTA1 | c.365C>T (p.Thr122Ile) c.230C>T (p.Thr77Ile) | |
| 1 | g.229432645G>C | CA345149614 | ACTA1 | c.365C>G (p.Thr122Ser) c.230C>G (p.Thr77Ser) | |
| 1 | g.229432645G>T | CA345149611 | ACTA1 | c.365C>A (p.Thr122Asn) c.230C>A (p.Thr77Asn) | |
| 1 | g.229432646T>A | CA345149621 | ACTA1 | c.364A>T (p.Thr122Ser) c.229A>T (p.Thr77Ser) | |
| 1 | g.229432646T>C | CA345149623 | ACTA1 | c.364A>G (p.Thr122Ala) c.229A>G (p.Thr77Ala) | |
| 1 | g.229432646T>G | CA345149625 | ACTA1 | c.364A>C (p.Thr122Pro) c.229A>C (p.Thr77Pro) | ClinVar |
| 1 | g.229432647C>A | CA345149628 | ACTA1 | c.363G>T (p.Met121Ile) c.228G>T (p.Met76Ile) | |
| 1 | g.229432647C>G | CA345149632 | ACTA1 | c.363G>C (p.Met121Ile) c.228G>C (p.Met76Ile) | |
| 1 | g.229432647C>T | CA345149634 | ACTA1 | c.363G>A (p.Met121Ile) c.228G>A (p.Met76Ile) | gnomAD v4 |
| 1 | g.229432648A>C | CA345149637 | ACTA1 | c.362T>G (p.Met121Arg) c.227T>G (p.Met76Arg) | |
| 1 | g.229432648A>G | CA345149640 | ACTA1 | c.362T>C (p.Met121Thr) c.227T>C (p.Met76Thr) | |
| 1 | g.229432648A>T | CA345149644 | ACTA1 | c.362T>A (p.Met121Lys) c.227T>A (p.Met76Lys) | gnomAD v4 |
| 1 | g.229432649T>A | CA345149647 | ACTA1 | c.361A>T (p.Met121Leu) c.226A>T (p.Met76Leu) | |
| 1 | g.229432649T>C | CA345149649 | ACTA1 | c.361A>G (p.Met121Val) c.226A>G (p.Met76Val) | |
| 1 | g.229432649T>G | CA345149651 | ACTA1 | c.361A>C (p.Met121Leu) c.226A>C (p.Met76Leu) | |
| 1 | g.229432650C>A | CA345149656 | ACTA1 | c.360G>T (p.Lys120Asn) c.225G>T (p.Lys75Asn) | |
| 1 | g.229432650C>G | CA345149654 | ACTA1 | c.360G>C (p.Lys120Asn) c.225G>C (p.Lys75Asn) | |
| 1 | g.229432650C>T | CA423755159 | ACTA1 | c.360G>A (p.Lys120=) c.225G>A (p.Lys75=) | |
| 1 | g.229432651T>A | CA345149658 | ACTA1 | c.359A>T (p.Lys120Met) c.224A>T (p.Lys75Met) | ClinVar dbSNP |
| 1 | g.229432651T>C | CA345149662 | ACTA1 | c.359A>G (p.Lys120Arg) c.224A>G (p.Lys75Arg) | |
| 1 | g.229432651T>G | CA345149671 | ACTA1 | c.359A>C (p.Lys120Thr) c.224A>C (p.Lys75Thr) | |
| 1 | g.229432652T>A | CA345149675 | ACTA1 | c.358A>T (p.Lys120Ter) c.223A>T (p.Lys75Ter) | |
| 1 | g.229432652T>C | CA345149678 | ACTA1 | c.358A>G (p.Lys120Glu) c.223A>G (p.Lys75Glu) | |
| 1 | g.229432652T>G | CA345149682 | ACTA1 | c.358A>C (p.Lys120Gln) c.223A>C (p.Lys75Gln) | ClinVar |
| 1 | g.229432653C>A | CA345149693 | ACTA1 | c.357G>T (p.Glu119Asp) c.222G>T (p.Glu74Asp) | |
| 1 | g.229432653C= | CA1226125905 | ACTA1 | c.357G= (p.Glu119=) c.222G= (p.Glu74=) | |
| 1 | g.229432653C>G | CA345149688 | ACTA1 | c.357G>C (p.Glu119Asp) c.222G>C (p.Glu74Asp) | |
| 1 | g.229432653C>T | CA423755161 | ACTA1 | c.357G>A (p.Glu119=) c.222G>A (p.Glu74=) | dbSNP |
| 1 | g.229432654T>A | CA345149697 | ACTA1 | c.356A>T (p.Glu119Val) c.221A>T (p.Glu74Val) | |
| 1 | g.229432654T>C | CA345149698 | ACTA1 | c.356A>G (p.Glu119Gly) c.221A>G (p.Glu74Gly) | |
| 1 | g.229432654T>G | CA345149699 | ACTA1 | c.356A>C (p.Glu119Ala) c.221A>C (p.Glu74Ala) | |
| 1 | g.229432655C>A | CA345149700 | ACTA1 | c.355G>T (p.Glu119Ter) c.220G>T (p.Glu74Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432655C= | CA1226125906 | ACTA1 | c.355G= (p.Glu119=) c.220G= (p.Glu74=) | |
| 1 | g.229432655C>G | CA345149702 | ACTA1 | c.355G>C (p.Glu119Gln) c.220G>C (p.Glu74Gln) | |
| 1 | g.229432655C>T | CA345149705 | ACTA1 | c.355G>A (p.Glu119Lys) c.220G>A (p.Glu74Lys) | |
| 1 | g.229432656G>A | CA423755166 | ACTA1 | c.354C>T (p.Arg118=) c.219C>T (p.Arg73=) | dbSNP |
| 1 | g.229432656G>C | CA423755167 | ACTA1 | c.354C>G (p.Arg118=) c.219C>G (p.Arg73=) | |
| 1 | g.229432656G= | CA1226125907 | ACTA1 | c.354C= (p.Arg118=) c.219C= (p.Arg73=) | |
| 1 | g.229432656G>T | CA423755168 | ACTA1 | c.354C>A (p.Arg118=) c.219C>A (p.Arg73=) | dbSNP gnomAD v4 |
| 1 | g.229432657C>A | CA345149708 | ACTA1 | c.353G>T (p.Arg118Leu) c.218G>T (p.Arg73Leu) | |
| 1 | g.229432657C>G | CA345149712 | ACTA1 | c.353G>C (p.Arg118Pro) c.218G>C (p.Arg73Pro) | |
| 1 | g.229432657C>T | CA345149709 | ACTA1 | c.353G>A (p.Arg118His) c.218G>A (p.Arg73His) | COSMIC |
| 1 | g.229432658G>A | CA345149715 | ACTA1 | c.352C>T (p.Arg118Cys) c.217C>T (p.Arg73Cys) | |
| 1 | g.229432658G>C | CA345149718 | ACTA1 | c.352C>G (p.Arg118Gly) c.217C>G (p.Arg73Gly) | |
| 1 | g.229432658G= | CA1226125908 | ACTA1 | c.352C= (p.Arg118=) c.217C= (p.Arg73=) | |
| 1 | g.229432658G>T | CA345149721 | ACTA1 | c.352C>A (p.Arg118Ser) c.217C>A (p.Arg73Ser) | dbSNP |
| 1 | g.229432659G>A | CA1442891 | ACTA1 | c.351C>T (p.Asn117=) c.216C>T (p.Asn72=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432659G>C | CA345149727 | ACTA1 | c.351C>G (p.Asn117Lys) c.216C>G (p.Asn72Lys) | |
| 1 | g.229432659G= | CA1226125910 | ACTA1 | c.351C= (p.Asn117=) c.216C= (p.Asn72=) | |
| 1 | g.229432659G>T | CA345149730 | ACTA1 | c.351C>A (p.Asn117Lys) c.216C>A (p.Asn72Lys) | |
| 1 | g.229432659_229432660delinsGT | CA1226125909 | ACTA1 | c.350_351delinsAC (p.Asn117=) c.215_216delinsAC (p.Asn72=) | |
| 1 | g.229432660T>A | CA345149731 | ACTA1 | c.350A>T (p.Asn117Ile) c.215A>T (p.Asn72Ile) | |
| 1 | g.229432660T>C | CA258132 | ACTA1 | c.350A>G (p.Asn117Ser) c.215A>G (p.Asn72Ser) | ClinVar dbSNP |
| 1 | g.229432660T>G | CA345149734 | ACTA1 | c.350A>C (p.Asn117Thr) c.215A>C (p.Asn72Thr) | |
| 1 | g.229432660T= | CA1141581379 | ACTA1 | c.350A= (p.Asn117=) c.215A= (p.Asn72=) | |
| 1 | g.229432661del | CA1226125911 | ACTA1 | c.350del (p.Asn117ThrfsTer5) c.215del (p.Asn72ThrfsTer5) | ClinVar dbSNP |
| 1 | g.229432661T>A | CA345149736 | ACTA1 | c.349A>T (p.Asn117Tyr) c.214A>T (p.Asn72Tyr) | ClinVar |
| 1 | g.229432661T>C | CA345149738 | ACTA1 | c.349A>G (p.Asn117Asp) c.214A>G (p.Asn72Asp) | |
| 1 | g.229432661T>G | CA345149741 | ACTA1 | c.349A>C (p.Asn117His) c.214A>C (p.Asn72His) | |
| 1 | g.229432662G>A | CA38816356 | ACTA1 | c.348C>T (p.Ala116=) c.213C>T (p.Ala71=) | dbSNP |
| 1 | g.229432662G>C | CA423755174 | ACTA1 | c.348C>G (p.Ala116=) c.213C>G (p.Ala71=) | |
| 1 | g.229432662G= | CA1226125912 | ACTA1 | c.348C= (p.Ala116=) c.213C= (p.Ala71=) | |
| 1 | g.229432662G>T | CA423755175 | ACTA1 | c.348C>A (p.Ala116=) c.213C>A (p.Ala71=) | |
| 1 | g.229432667_229432684del | CA2739273924 | ACTA1 | c.331_348del (p.Pro111_Ala116del) c.196_213del (p.Pro66_Ala71del) | ClinVar |
| 1 | g.229432663G>A | CA345149749 | ACTA1 | c.347C>T (p.Ala116Val) c.212C>T (p.Ala71Val) | ClinVar dbSNP |
| 1 | g.229432663G>C | CA345149746 | ACTA1 | c.347C>G (p.Ala116Gly) c.212C>G (p.Ala71Gly) | |
| 1 | g.229432663G= | CA1226125913 | ACTA1 | c.347C= (p.Ala116=) c.212C= (p.Ala71=) | |
| 1 | g.229432663G>T | CA345149751 | ACTA1 | c.347C>A (p.Ala116Asp) c.212C>A (p.Ala71Asp) | |
| 1 | g.229432664C>A | CA345149752 | ACTA1 | c.346G>T (p.Ala116Ser) c.211G>T (p.Ala71Ser) | ClinVar dbSNP |
| 1 | g.229432664C= | CA1226125914 | ACTA1 | c.346G= (p.Ala116=) c.211G= (p.Ala71=) | |
| 1 | g.229432664C>G | CA345149756 | ACTA1 | c.346G>C (p.Ala116Pro) c.211G>C (p.Ala71Pro) | |
| 1 | g.229432664C>T | CA345149754 | ACTA1 | c.346G>A (p.Ala116Thr) c.211G>A (p.Ala71Thr) | ClinVar dbSNP |
| 1 | g.229432665C>A | CA345149759 | ACTA1 | c.345G>T (p.Lys115Asn) c.210G>T (p.Lys70Asn) | |
| 1 | g.229432665C= | CA1226125915 | ACTA1 | c.345G= (p.Lys115=) c.210G= (p.Lys70=) | |
| 1 | g.229432665C>G | CA345149762 | ACTA1 | c.345G>C (p.Lys115Asn) c.210G>C (p.Lys70Asn) | |
| 1 | g.229432665C>T | CA423755178 | ACTA1 | c.345G>A (p.Lys115=) c.210G>A (p.Lys70=) | dbSNP gnomAD v4 |
| 1 | g.229432666T>A | CA345149767 | ACTA1 | c.344A>T (p.Lys115Met) c.209A>T (p.Lys70Met) | |
| 1 | g.229432666T>C | CA345149770 | ACTA1 | c.344A>G (p.Lys115Arg) c.209A>G (p.Lys70Arg) | |
| 1 | g.229432666T>G | CA345149772 | ACTA1 | c.344A>C (p.Lys115Thr) c.209A>C (p.Lys70Thr) | |
| 1 | g.229432667T>A | CA345149775 | ACTA1 | c.343A>T (p.Lys115Ter) c.208A>T (p.Lys70Ter) | |
| 1 | g.229432667T>C | CA345149777 | ACTA1 | c.343A>G (p.Lys115Glu) c.208A>G (p.Lys70Glu) | |
| 1 | g.229432667T>G | CA345149780 | ACTA1 | c.343A>C (p.Lys115Gln) c.208A>C (p.Lys70Gln) | |
| 1 | g.229432668G>A | CA423755181 | ACTA1 | c.342C>T (p.Pro114=) c.207C>T (p.Pro69=) | dbSNP |
| 1 | g.229432668G>C | CA423755183 | ACTA1 | c.342C>G (p.Pro114=) c.207C>G (p.Pro69=) | |
| 1 | g.229432668G= | CA1226125916 | ACTA1 | c.342C= (p.Pro114=) c.207C= (p.Pro69=) | |
| 1 | g.229432668G>T | CA423755185 | ACTA1 | c.342C>A (p.Pro114=) c.207C>A (p.Pro69=) | |
| 1 | g.229432669G>A | CA10575965 | ACTA1 | c.341C>T (p.Pro114Leu) c.206C>T (p.Pro69Leu) | ClinVar dbSNP COSMIC |
| 1 | g.229432669G>C | CA345149784 | ACTA1 | c.341C>G (p.Pro114Arg) c.206C>G (p.Pro69Arg) | |
| 1 | g.229432669G= | CA1226125917 | ACTA1 | c.341C= (p.Pro114=) c.206C= (p.Pro69=) | |
| 1 | g.229432669G>T | CA345149788 | ACTA1 | c.341C>A (p.Pro114His) c.206C>A (p.Pro69His) | |
| 1 | g.229432670G>A | CA345149791 | ACTA1 | c.340C>T (p.Pro114Ser) c.205C>T (p.Pro69Ser) | |
| 1 | g.229432670G>C | CA345149793 | ACTA1 | c.340C>G (p.Pro114Ala) c.205C>G (p.Pro69Ala) | |
| 1 | g.229432670G>T | CA345149795 | ACTA1 | c.340C>A (p.Pro114Thr) c.205C>A (p.Pro69Thr) | |
| 1 | g.229432671A= | CA1226125918 | ACTA1 | c.339T= (p.Asn113=) c.204T= (p.Asn68=) | |
| 1 | g.229432671A>C | CA345149797 | ACTA1 | c.339T>G (p.Asn113Lys) c.204T>G (p.Asn68Lys) | |
| 1 | g.229432671A>G | CA423755188 | ACTA1 | c.339T>C (p.Asn113=) c.204T>C (p.Asn68=) | dbSNP |
| 1 | g.229432671A>T | CA345149799 | ACTA1 | c.339T>A (p.Asn113Lys) c.204T>A (p.Asn68Lys) | |
| 1 | g.229432672T>A | CA345149804 | ACTA1 | c.338A>T (p.Asn113Ile) c.203A>T (p.Asn68Ile) | |
| 1 | g.229432672T>C | CA345149805 | ACTA1 | c.338A>G (p.Asn113Ser) c.203A>G (p.Asn68Ser) | ClinVar |
| 1 | g.229432672T>G | CA345149806 | ACTA1 | c.338A>C (p.Asn113Thr) c.203A>C (p.Asn68Thr) | |
| 1 | g.229432673dup | CA1442892 | ACTA1 | c.338dup (p.Asn113LysfsTer15) c.203dup (p.Asn68LysfsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432673T>A | CA345149807 | ACTA1 | c.337A>T (p.Asn113Tyr) c.202A>T (p.Asn68Tyr) | |
| 1 | g.229432673T>C | CA345149808 | ACTA1 | c.337A>G (p.Asn113Asp) c.202A>G (p.Asn68Asp) | |
| 1 | g.229432673T>G | CA345149809 | ACTA1 | c.337A>C (p.Asn113His) c.202A>C (p.Asn68His) | |
| 1 | g.229432674G>A | CA423755190 | ACTA1 | c.336C>T (p.Leu112=) c.201C>T (p.Leu67=) | dbSNP |
| 1 | g.229432674G>C | CA423755191 | ACTA1 | c.336C>G (p.Leu112=) c.201C>G (p.Leu67=) | gnomAD v4 |
| 1 | g.229432674G= | CA1226125919 | ACTA1 | c.336C= (p.Leu112=) c.201C= (p.Leu67=) | |
| 1 | g.229432674G>T | CA423755192 | ACTA1 | c.336C>A (p.Leu112=) c.201C>A (p.Leu67=) | |
| 1 | g.229432675A>C | CA345149810 | ACTA1 | c.335T>G (p.Leu112Arg) c.200T>G (p.Leu67Arg) | |
| 1 | g.229432675A>G | CA345149811 | ACTA1 | c.335T>C (p.Leu112Pro) c.200T>C (p.Leu67Pro) | |
| 1 | g.229432675A>T | CA345149812 | ACTA1 | c.335T>A (p.Leu112His) c.200T>A (p.Leu67His) | |
| 1 | g.229432676G>A | CA38816393 | ACTA1 | c.334C>T (p.Leu112Phe) c.199C>T (p.Leu67Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432676G>C | CA345149815 | ACTA1 | c.334C>G (p.Leu112Val) c.199C>G (p.Leu67Val) | gnomAD v4 |
| 1 | g.229432676G= | CA1142120498 | ACTA1 | c.334C= (p.Leu112=) c.199C= (p.Leu67=) | |
| 1 | g.229432676G>T | CA345149813 | ACTA1 | c.334C>A (p.Leu112Ile) c.199C>A (p.Leu67Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432681dup | CA2650926821 | ACTA1 | c.334dup (p.Leu112ProfsTer16) c.199dup (p.Leu67ProfsTer16) | gnomAD v4 |
| 1 | g.229432681del | CA2574151343 | ACTA1 | c.334del (p.Leu112SerfsTer10) c.199del (p.Leu67SerfsTer10) | |
| 1 | g.229432677G>A | CA423755193 | ACTA1 | c.333C>T (p.Pro111=) c.198C>T (p.Pro66=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432677G>C | CA423755195 | ACTA1 | c.333C>G (p.Pro111=) c.198C>G (p.Pro66=) | |
| 1 | g.229432677G= | CA1226125920 | ACTA1 | c.333C= (p.Pro111=) c.198C= (p.Pro66=) | |
| 1 | g.229432677G>T | CA423755194 | ACTA1 | c.333C>A (p.Pro111=) c.198C>A (p.Pro66=) | |
| 1 | g.229432678G>A | CA345149817 | ACTA1 | c.332C>T (p.Pro111Leu) c.197C>T (p.Pro66Leu) | |
| 1 | g.229432678G>C | CA345149818 | ACTA1 | c.332C>G (p.Pro111Arg) c.197C>G (p.Pro66Arg) | |
| 1 | g.229432678G>T | CA345149820 | ACTA1 | c.332C>A (p.Pro111His) c.197C>A (p.Pro66His) | |
| 1 | g.229432679G>A | CA345149821 | ACTA1 | c.331C>T (p.Pro111Ser) c.196C>T (p.Pro66Ser) | |
| 1 | g.229432679G>C | CA345149822 | ACTA1 | c.331C>G (p.Pro111Ala) c.196C>G (p.Pro66Ala) | |
| 1 | g.229432679G>T | CA345149823 | ACTA1 | c.331C>A (p.Pro111Thr) c.196C>A (p.Pro66Thr) | COSMIC |
| 1 | g.229432680G>A | CA1442893 | ACTA1 | c.330C>T (p.Ala110=) c.195C>T (p.Ala65=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.229432680G>C | CA423755200 | ACTA1 | c.330C>G (p.Ala110=) c.195C>G (p.Ala65=) | dbSNP |
| 1 | g.229432680G= | CA1226125921 | ACTA1 | c.330C= (p.Ala110=) c.195C= (p.Ala65=) | |
| 1 | g.229432680G>T | CA423755199 | ACTA1 | c.330C>A (p.Ala110=) c.195C>A (p.Ala65=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432681G>A | CA38816409 | ACTA1 | c.329C>T (p.Ala110Val) c.194C>T (p.Ala65Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432681G>C | CA345149826 | ACTA1 | c.329C>G (p.Ala110Gly) c.194C>G (p.Ala65Gly) | gnomAD v4 |
| 1 | g.229432681G= | CA1226125923 | ACTA1 | c.329C= (p.Ala110=) c.194C= (p.Ala65=) | |
| 1 | g.229432681G>T | CA345149828 | ACTA1 | c.329C>A (p.Ala110Asp) c.194C>A (p.Ala65Asp) | |
| 1 | g.229432681_229432687delinsACCTCGA | CA16617086 | ACTA1 | c.323_329delinsTCGAGGT (p.Thr108_Ala110delinsIleGluVal) c.188_194delinsTCGAGGT (p.Thr63_Ala65delinsIleGluVal) | ClinVar dbSNP |
| 1 | g.229432681_229432687delinsGCCTCGG | CA1226125922 | ACTA1 | c.323_329delinsCCGAGGC (p.Thr108=) c.188_194delinsCCGAGGC (p.Thr63=) | |
| 1 | g.229432682C>A | CA345149830 | ACTA1 | c.328G>T (p.Ala110Ser) c.193G>T (p.Ala65Ser) | |
| 1 | g.229432682C>G | CA345149836 | ACTA1 | c.328G>C (p.Ala110Pro) c.193G>C (p.Ala65Pro) | |
| 1 | g.229432682C>T | CA345149839 | ACTA1 | c.328G>A (p.Ala110Thr) c.193G>A (p.Ala65Thr) | |
| 1 | g.229432683C>A | CA345149845 | ACTA1 | c.327G>T (p.Glu109Asp) c.192G>T (p.Glu64Asp) | |
| 1 | g.229432683C= | CA1226125924 | ACTA1 | c.327G= (p.Glu109=) c.192G= (p.Glu64=) | |
| 1 | g.229432683C>G | CA345149846 | ACTA1 | c.327G>C (p.Glu109Asp) c.192G>C (p.Glu64Asp) | ClinVar |
| 1 | g.229432683C>T | CA423755203 | ACTA1 | c.327G>A (p.Glu109=) c.192G>A (p.Glu64=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432684T>A | CA345149848 | ACTA1 | c.326A>T (p.Glu109Val) c.191A>T (p.Glu64Val) | |
| 1 | g.229432684T>C | CA345149851 | ACTA1 | c.326A>G (p.Glu109Gly) c.191A>G (p.Glu64Gly) | |
| 1 | g.229432684T>G | CA345149853 | ACTA1 | c.326A>C (p.Glu109Ala) c.191A>C (p.Glu64Ala) | |
| 1 | g.229432685C>A | CA345149856 | ACTA1 | c.325G>T (p.Glu109Ter) c.190G>T (p.Glu64Ter) | |
| 1 | g.229432685C>G | CA345149857 | ACTA1 | c.325G>C (p.Glu109Gln) c.190G>C (p.Glu64Gln) | |
| 1 | g.229432685C>T | CA345149860 | ACTA1 | c.325G>A (p.Glu109Lys) c.190G>A (p.Glu64Lys) | COSMIC |
| 1 | g.229432686G>A | CA423755206 | ACTA1 | c.324C>T (p.Thr108=) c.189C>T (p.Thr63=) | dbSNP gnomAD v4 |
| 1 | g.229432686G>C | CA423755207 | ACTA1 | c.324C>G (p.Thr108=) c.189C>G (p.Thr63=) | dbSNP |
| 1 | g.229432686G= | CA1140611006 | ACTA1 | c.324C= (p.Thr108=) c.189C= (p.Thr63=) | |
| 1 | g.229432686G>T | CA1442894 | ACTA1 | c.324C>A (p.Thr108=) c.189C>A (p.Thr63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432687G>A | CA345149866 | ACTA1 | c.323C>T (p.Thr108Ile) c.188C>T (p.Thr63Ile) | ClinVar dbSNP |
| 1 | g.229432687G>C | CA345149868 | ACTA1 | c.323C>G (p.Thr108Ser) c.188C>G (p.Thr63Ser) | |
| 1 | g.229432687G= | CA1226125925 | ACTA1 | c.323C= (p.Thr108=) c.188C= (p.Thr63=) | |
| 1 | g.229432687G>T | CA345149870 | ACTA1 | c.323C>A (p.Thr108Asn) c.188C>A (p.Thr63Asn) | |
| 1 | g.229432688T>A | CA345149873 | ACTA1 | c.322A>T (p.Thr108Ser) c.187A>T (p.Thr63Ser) | |
| 1 | g.229432688T>C | CA345149877 | ACTA1 | c.322A>G (p.Thr108Ala) c.187A>G (p.Thr63Ala) | |
| 1 | g.229432688T>G | CA345149880 | ACTA1 | c.322A>C (p.Thr108Pro) c.187A>C (p.Thr63Pro) | |
| 1 | g.229432689G>A | CA423755211 | ACTA1 | c.321C>T (p.Leu107=) c.186C>T (p.Leu62=) | |
| 1 | g.229432689G>C | CA423755212 | ACTA1 | c.321C>G (p.Leu107=) c.186C>G (p.Leu62=) | |
| 1 | g.229432689G>T | CA423755213 | ACTA1 | c.321C>A (p.Leu107=) c.186C>A (p.Leu62=) | |
| 1 | g.229432690A>C | CA345149887 | ACTA1 | c.320T>G (p.Leu107Arg) c.185T>G (p.Leu62Arg) | |
| 1 | g.229432690A>G | CA345149890 | ACTA1 | c.320T>C (p.Leu107Pro) c.185T>C (p.Leu62Pro) | |
| 1 | g.229432690A>T | CA345149884 | ACTA1 | c.320T>A (p.Leu107His) c.185T>A (p.Leu62His) | |
| 1 | g.229432691G>A | CA345149893 | ACTA1 | c.319C>T (p.Leu107Phe) c.184C>T (p.Leu62Phe) | COSMIC |
| 1 | g.229432691G>C | CA345149895 | ACTA1 | c.319C>G (p.Leu107Val) c.184C>G (p.Leu62Val) | |
| 1 | g.229432691G>T | CA345149899 | ACTA1 | c.319C>A (p.Leu107Ile) c.184C>A (p.Leu62Ile) | |
| 1 | g.229432692C>A | CA423755214 | ACTA1 | c.318G>T (p.Leu106=) c.183G>T (p.Leu61=) | |
| 1 | g.229432692C>G | CA423755216 | ACTA1 | c.318G>C (p.Leu106=) c.183G>C (p.Leu61=) | gnomAD v4 |
| 1 | g.229432692C>T | CA423755215 | ACTA1 | c.318G>A (p.Leu106=) c.183G>A (p.Leu61=) | gnomAD v4 |
| 1 | g.229432693A>C | CA345149903 | ACTA1 | c.317T>G (p.Leu106Arg) c.182T>G (p.Leu61Arg) | |
| 1 | g.229432693A>G | CA345149905 | ACTA1 | c.317T>C (p.Leu106Pro) c.182T>C (p.Leu61Pro) | ClinVar |
| 1 | g.229432693A>T | CA345149908 | ACTA1 | c.317T>A (p.Leu106Gln) c.182T>A (p.Leu61Gln) | |
| 1 | g.229432694G>A | CA423755217 | ACTA1 | c.316C>T (p.Leu106=) c.181C>T (p.Leu61=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432694G>C | CA345149912 | ACTA1 | c.316C>G (p.Leu106Val) c.181C>G (p.Leu61Val) | |
| 1 | g.229432694G= | CA1226125926 | ACTA1 | c.316C= (p.Leu106=) c.181C= (p.Leu61=) | |
| 1 | g.229432694G>T | CA345149910 | ACTA1 | c.316C>A (p.Leu106Met) c.181C>A (p.Leu61Met) | |
| 1 | g.229432696del | CA423755218 | ACTA1 | c.316del (p.Leu106CysfsTer16) c.181del (p.Leu61CysfsTer16) | |
| 1 | g.229432695G>A | CA423755219 | ACTA1 | c.315C>T (p.Thr105=) c.180C>T (p.Thr60=) | dbSNP |
| 1 | g.229432695G>C | CA423755220 | ACTA1 | c.315C>G (p.Thr105=) c.180C>G (p.Thr60=) | |
| 1 | g.229432695G= | CA1226125927 | ACTA1 | c.315C= (p.Thr105=) c.180C= (p.Thr60=) | |
| 1 | g.229432695G>T | CA423755221 | ACTA1 | c.315C>A (p.Thr105=) c.180C>A (p.Thr60=) | |
| 1 | g.229432696G>A | CA1442895 | ACTA1 | c.314C>T (p.Thr105Ile) c.179C>T (p.Thr60Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432696G>C | CA345149921 | ACTA1 | c.314C>G (p.Thr105Ser) c.179C>G (p.Thr60Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432696G= | CA1226125928 | ACTA1 | c.314C= (p.Thr105=) c.179C= (p.Thr60=) | |
| 1 | g.229432696G>T | CA345149923 | ACTA1 | c.314C>A (p.Thr105Asn) c.179C>A (p.Thr60Asn) | gnomAD v4 |
| 1 | g.229432697T>A | CA345149925 | ACTA1 | c.313A>T (p.Thr105Ser) c.178A>T (p.Thr60Ser) | |
| 1 | g.229432697T>C | CA345149926 | ACTA1 | c.313A>G (p.Thr105Ala) c.178A>G (p.Thr60Ala) | |
| 1 | g.229432697T>G | CA345149927 | ACTA1 | c.313A>C (p.Thr105Pro) c.178A>C (p.Thr60Pro) | |
| 1 | g.229432698G>A | CA423755224 | ACTA1 | c.312C>T (p.Pro104=) c.177C>T (p.Pro59=) | dbSNP gnomAD v2 |
| 1 | g.229432698G>C | CA423755223 | ACTA1 | c.312C>G (p.Pro104=) c.177C>G (p.Pro59=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432698G= | CA1226125929 | ACTA1 | c.312C= (p.Pro104=) c.177C= (p.Pro59=) | |
| 1 | g.229432698G>T | CA423755222 | ACTA1 | c.312C>A (p.Pro104=) c.177C>A (p.Pro59=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432699G>A | CA345149930 | ACTA1 | c.311C>T (p.Pro104Leu) c.176C>T (p.Pro59Leu) | dbSNP gnomAD v4 |
| 1 | g.229432699G>C | CA1442896 | ACTA1 | c.311C>G (p.Pro104Arg) c.176C>G (p.Pro59Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432699G= | CA1226125930 | ACTA1 | c.311C= (p.Pro104=) c.176C= (p.Pro59=) | |
| 1 | g.229432699G>T | CA345149929 | ACTA1 | c.311C>A (p.Pro104His) c.176C>A (p.Pro59His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432700G>A | CA345149932 | ACTA1 | c.310C>T (p.Pro104Ser) c.175C>T (p.Pro59Ser) | |
| 1 | g.229432700G>C | CA345149947 | ACTA1 | c.310C>G (p.Pro104Ala) c.175C>G (p.Pro59Ala) | |
| 1 | g.229432700G>T | CA345149951 | ACTA1 | c.310C>A (p.Pro104Thr) c.175C>A (p.Pro59Thr) | |
| 1 | g.229432701G>A | CA38816438 | ACTA1 | c.309C>T (p.His103=) c.174C>T (p.His58=) | dbSNP |
| 1 | g.229432701G>C | CA345149954 | ACTA1 | c.309C>G (p.His103Gln) c.174C>G (p.His58Gln) | |
| 1 | g.229432701G= | CA1226125931 | ACTA1 | c.309C= (p.His103=) c.174C= (p.His58=) | |
| 1 | g.229432701G>T | CA345149956 | ACTA1 | c.309C>A (p.His103Gln) c.174C>A (p.His58Gln) | COSMIC |
| 1 | g.229432702T>A | CA345149962 | ACTA1 | c.308A>T (p.His103Leu) c.173A>T (p.His58Leu) | gnomAD v4 |
| 1 | g.229432702T>C | CA345149966 | ACTA1 | c.308A>G (p.His103Arg) c.173A>G (p.His58Arg) | |
| 1 | g.229432702T>G | CA345149968 | ACTA1 | c.308A>C (p.His103Pro) c.173A>C (p.His58Pro) | |
| 1 | g.229432703G>A | CA345149971 | ACTA1 | c.307C>T (p.His103Tyr) c.172C>T (p.His58Tyr) | ClinVar |
| 1 | g.229432703G>C | CA345149972 | ACTA1 | c.307C>G (p.His103Asp) c.172C>G (p.His58Asp) | |
| 1 | g.229432703G>T | CA345149973 | ACTA1 | c.307C>A (p.His103Asn) c.172C>A (p.His58Asn) | |
| 1 | g.229432703_229432704delinsGC | CA1226125932 | ACTA1 | c.306_307delinsGC (p.Glu102=) c.171_172delinsGC (p.Glu57=) | |
| 1 | g.229432704del | CA915942046 | ACTA1 | c.306del (p.Glu102AspfsTer20) c.171del (p.Glu57AspfsTer20) | ClinVar dbSNP |
| 1 | g.229432704C>A | CA345149974 | ACTA1 | c.306G>T (p.Glu102Asp) c.171G>T (p.Glu57Asp) | COSMIC |
| 1 | g.229432704C>G | CA345149975 | ACTA1 | c.306G>C (p.Glu102Asp) c.171G>C (p.Glu57Asp) | |
| 1 | g.229432704C>T | CA423755229 | ACTA1 | c.306G>A (p.Glu102=) c.171G>A (p.Glu57=) | ClinVar gnomAD v4 COSMIC |
| 1 | g.229432705T>A | CA345149977 | ACTA1 | c.305A>T (p.Glu102Val) c.170A>T (p.Glu57Val) | |
| 1 | g.229432705T>C | CA345149986 | ACTA1 | c.305A>G (p.Glu102Gly) c.170A>G (p.Glu57Gly) | |
| 1 | g.229432705T>G | CA345149984 | ACTA1 | c.305A>C (p.Glu102Ala) c.170A>C (p.Glu57Ala) | |
| 1 | g.229432706C>A | CA345149992 | ACTA1 | c.304G>T (p.Glu102Ter) c.169G>T (p.Glu57Ter) | |
| 1 | g.229432706C= | CA1226125933 | ACTA1 | c.304G= (p.Glu102=) c.169G= (p.Glu57=) | |
| 1 | g.229432706C>G | CA345149994 | ACTA1 | c.304G>C (p.Glu102Gln) c.169G>C (p.Glu57Gln) | |
| 1 | g.229432706C>T | CA16603574 | ACTA1 | c.304G>A (p.Glu102Lys) c.169G>A (p.Glu57Lys) | ClinVar dbSNP |
| 1 | g.229432707C>A | CA345149998 | ACTA1 | c.303G>T (p.Glu101Asp) c.168G>T (p.Glu56Asp) | |
| 1 | g.229432707C>G | CA345150000 | ACTA1 | c.303G>C (p.Glu101Asp) c.168G>C (p.Glu56Asp) | |
| 1 | g.229432707C>T | CA423755305 | ACTA1 | c.303G>A (p.Glu101=) c.168G>A (p.Glu56=) | |
| 1 | g.229432708T>A | CA345150007 | ACTA1 | c.302A>T (p.Glu101Val) c.167A>T (p.Glu56Val) | |
| 1 | g.229432708T>C | CA345150005 | ACTA1 | c.302A>G (p.Glu101Gly) c.167A>G (p.Glu56Gly) | |
| 1 | g.229432708T>G | CA345150003 | ACTA1 | c.302A>C (p.Glu101Ala) c.167A>C (p.Glu56Ala) | |
| 1 | g.229432709C>A | CA345150009 | ACTA1 | c.301G>T (p.Glu101Ter) c.166G>T (p.Glu56Ter) | dbSNP |
| 1 | g.229432709C= | CA1226125934 | ACTA1 | c.301G= (p.Glu101=) c.166G= (p.Glu56=) | |
| 1 | g.229432709C>G | CA345150011 | ACTA1 | c.301G>C (p.Glu101Gln) c.166G>C (p.Glu56Gln) | |
| 1 | g.229432709C>T | CA345150014 | ACTA1 | c.301G>A (p.Glu101Lys) c.166G>A (p.Glu56Lys) | gnomAD v4 |
| 1 | g.229432710G>A | CA423755312 | ACTA1 | c.300C>T (p.Pro100=) c.165C>T (p.Pro55=) | ClinVar |
| 1 | g.229432710G>C | CA423755313 | ACTA1 | c.300C>G (p.Pro100=) c.165C>G (p.Pro55=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432710G= | CA1226125935 | ACTA1 | c.300C= (p.Pro100=) c.165C= (p.Pro55=) | |
| 1 | g.229432710G>T | CA423755314 | ACTA1 | c.300C>A (p.Pro100=) c.165C>A (p.Pro55=) | |
| 1 | g.229432711G>A | CA345150022 | ACTA1 | c.299C>T (p.Pro100Leu) c.164C>T (p.Pro55Leu) | |
| 1 | g.229432711G>C | CA345150033 | ACTA1 | c.299C>G (p.Pro100Arg) c.164C>G (p.Pro55Arg) | |
| 1 | g.229432711G>T | CA345150036 | ACTA1 | c.299C>A (p.Pro100His) c.164C>A (p.Pro55His) | |
| 1 | g.229432712G>A | CA1442897 | ACTA1 | c.298C>T (p.Pro100Ser) c.163C>T (p.Pro55Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432712G>C | CA345150043 | ACTA1 | c.298C>G (p.Pro100Ala) c.163C>G (p.Pro55Ala) | |
| 1 | g.229432712G= | CA1148257598 | ACTA1 | c.298C= (p.Pro100=) c.163C= (p.Pro55=) | |
| 1 | g.229432712G>T | CA345150040 | ACTA1 | c.298C>A (p.Pro100Thr) c.163C>A (p.Pro55Thr) | |
| 1 | g.229432713A= | CA1226125936 | ACTA1 | c.297T= (p.Ala99=) c.162T= (p.Ala54=) | |
| 1 | g.229432713A>C | CA423755318 | ACTA1 | c.297T>G (p.Ala99=) c.162T>G (p.Ala54=) | |
| 1 | g.229432713A>G | CA38816447 | ACTA1 | c.297T>C (p.Ala99=) c.162T>C (p.Ala54=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432713A>T | CA423755319 | ACTA1 | c.297T>A (p.Ala99=) c.162T>A (p.Ala54=) | |
| 1 | g.229432714G>A | CA345150050 | ACTA1 | c.296C>T (p.Ala99Val) c.161C>T (p.Ala54Val) | |
| 1 | g.229432714G>C | CA345150054 | ACTA1 | c.296C>G (p.Ala99Gly) c.161C>G (p.Ala54Gly) | |
| 1 | g.229432714G>T | CA345150056 | ACTA1 | c.296C>A (p.Ala99Asp) c.161C>A (p.Ala54Asp) | |
| 1 | g.229432715C>A | CA345150058 | ACTA1 | c.295G>T (p.Ala99Ser) c.160G>T (p.Ala54Ser) | gnomAD v4 |
| 1 | g.229432715C>G | CA345150060 | ACTA1 | c.295G>C (p.Ala99Pro) c.160G>C (p.Ala54Pro) | |
| 1 | g.229432715C>T | CA345150062 | ACTA1 | c.295G>A (p.Ala99Thr) c.160G>A (p.Ala54Thr) | |
| 1 | g.229432716C>A | CA423755323 | ACTA1 | c.294G>T (p.Val98=) c.159G>T (p.Val53=) | |
| 1 | g.229432716C= | CA1226125937 | ACTA1 | c.294G= (p.Val98=) c.159G= (p.Val53=) | |
| 1 | g.229432716C>G | CA423755324 | ACTA1 | c.294G>C (p.Val98=) c.159G>C (p.Val53=) | dbSNP |
| 1 | g.229432716C>T | CA423755325 | ACTA1 | c.294G>A (p.Val98=) c.159G>A (p.Val53=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432717A>C | CA345150063 | ACTA1 | c.293T>G (p.Val98Gly) c.158T>G (p.Val53Gly) | |
| 1 | g.229432717A>G | CA345150064 | ACTA1 | c.293T>C (p.Val98Ala) c.158T>C (p.Val53Ala) | |
| 1 | g.229432717A>T | CA345150066 | ACTA1 | c.293T>A (p.Val98Glu) c.158T>A (p.Val53Glu) | |
| 1 | g.229432718C>A | CA345150075 | ACTA1 | c.292G>T (p.Val98Leu) c.157G>T (p.Val53Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432718C= | CA1226125938 | ACTA1 | c.292G= (p.Val98=) c.157G= (p.Val53=) | |
| 1 | g.229432718C>G | CA345150072 | ACTA1 | c.292G>C (p.Val98Leu) c.157G>C (p.Val53Leu) | dbSNP |
| 1 | g.229432718C>T | CA345150069 | ACTA1 | c.292G>A (p.Val98Met) c.157G>A (p.Val53Met) | |
| 1 | g.229432719G>A | CA423755329 | ACTA1 | c.291C>T (p.Arg97=) c.156C>T (p.Arg52=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432719G>C | CA423755327 | ACTA1 | c.291C>G (p.Arg97=) c.156C>G (p.Arg52=) | |
| 1 | g.229432719G= | CA1226125939 | ACTA1 | c.291C= (p.Arg97=) c.156C= (p.Arg52=) | |
| 1 | g.229432719G>T | CA423755334 | ACTA1 | c.291C>A (p.Arg97=) c.156C>A (p.Arg52=) | dbSNP |
| 1 | g.229432720C>A | CA345150076 | ACTA1 | c.290G>T (p.Arg97Leu) c.155G>T (p.Arg52Leu) | |
| 1 | g.229432720C>G | CA345150081 | ACTA1 | c.290G>C (p.Arg97Pro) c.155G>C (p.Arg52Pro) | |
| 1 | g.229432720C>T | CA345150078 | ACTA1 | c.290G>A (p.Arg97His) c.155G>A (p.Arg52His) | |
| 1 | g.229432721G>A | CA345150082 | ACTA1 | c.289C>T (p.Arg97Cys) c.154C>T (p.Arg52Cys) | COSMIC |
| 1 | g.229432721G>C | CA345150084 | ACTA1 | c.289C>G (p.Arg97Gly) c.154C>G (p.Arg52Gly) | |
| 1 | g.229432721G>T | CA345150083 | ACTA1 | c.289C>A (p.Arg97Ser) c.154C>A (p.Arg52Ser) | |
| 1 | g.229432722A= | CA1146571440 | ACTA1 | c.288T= (p.Leu96=) c.153T= (p.Leu51=) | |
| 1 | g.229432722A>C | CA423755339 | ACTA1 | c.288T>G (p.Leu96=) c.153T>G (p.Leu51=) | dbSNP |
| 1 | g.229432722A>G | CA38816457 | ACTA1 | c.288T>C (p.Leu96=) c.153T>C (p.Leu51=) | dbSNP |
| 1 | g.229432722A>T | CA423755338 | ACTA1 | c.288T>A (p.Leu96=) c.153T>A (p.Leu51=) | |
| 1 | g.229432723A= | CA1141581380 | ACTA1 | c.287T= (p.Leu96=) c.152T= (p.Leu51=) | |
| 1 | g.229432723A>C | CA345150085 | ACTA1 | c.287T>G (p.Leu96Arg) c.152T>G (p.Leu51Arg) | |
| 1 | g.229432723A>G | CA258130 | ACTA1 | c.287T>C (p.Leu96Pro) c.152T>C (p.Leu51Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432723A>T | CA345150086 | ACTA1 | c.287T>A (p.Leu96His) c.152T>A (p.Leu51His) |