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.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) | |
| 1 | g.229432801T>C | CA345150659 | ACTA1 | c.209A>G (p.Lys70Arg) c.74A>G (p.Lys25Arg) | ClinVar dbSNP |
| 1 | g.229432801T>G | CA345150655 | ACTA1 | c.209A>C (p.Lys70Thr) c.74A>C (p.Lys25Thr) | |
| 1 | g.229432801T= | CA1226125968 | ACTA1 | c.209A= (p.Lys70=) c.74A= (p.Lys25=) | |
| 1 | g.229432802T>A | CA345150665 | ACTA1 | c.208A>T (p.Lys70Ter) c.73A>T (p.Lys25Ter) | |
| 1 | g.229432802T>C | CA345150667 | ACTA1 | c.208A>G (p.Lys70Glu) c.73A>G (p.Lys25Glu) | |
| 1 | g.229432802T>G | CA345150682 | ACTA1 | c.208A>C (p.Lys70Gln) c.73A>C (p.Lys25Gln) | |
| 1 | g.229432803C>A | CA423755460 | ACTA1 | c.207G>T (p.Leu69=) c.72G>T (p.Leu24=) | |
| 1 | g.229432803C= | CA1226125969 | ACTA1 | c.207G= (p.Leu69=) c.72G= (p.Leu24=) | |
| 1 | g.229432803C>G | CA38816585 | ACTA1 | c.207G>C (p.Leu69=) c.72G>C (p.Leu24=) | dbSNP |
| 1 | g.229432803C>T | CA423755462 | ACTA1 | c.207G>A (p.Leu69=) c.72G>A (p.Leu24=) | dbSNP gnomAD v4 |
| 1 | g.229432804A>C | CA345150686 | ACTA1 | c.206T>G (p.Leu69Arg) c.71T>G (p.Leu24Arg) | |
| 1 | g.229432804A>G | CA345150687 | ACTA1 | c.206T>C (p.Leu69Pro) c.71T>C (p.Leu24Pro) | |
| 1 | g.229432804A>T | CA345150689 | ACTA1 | c.206T>A (p.Leu69Gln) c.71T>A (p.Leu24Gln) | |
| 1 | g.229432805G>A | CA423755467 | ACTA1 | c.205C>T (p.Leu69=) c.70C>T (p.Leu24=) | |
| 1 | g.229432805G>C | CA345150691 | ACTA1 | c.205C>G (p.Leu69Val) c.70C>G (p.Leu24Val) | |
| 1 | g.229432805G= | CA1226125970 | ACTA1 | c.205C= (p.Leu69=) c.70C= (p.Leu24=) | |
| 1 | g.229432805G>T | CA345150693 | ACTA1 | c.205C>A (p.Leu69Met) c.70C>A (p.Leu24Met) | dbSNP gnomAD v4 |
| 1 | g.229432806G>A | CA423755469 | ACTA1 | c.204C>T (p.Thr68=) c.69C>T (p.Thr23=) | dbSNP |
| 1 | g.229432806G>C | CA423755468 | ACTA1 | c.204C>G (p.Thr68=) c.69C>G (p.Thr23=) | gnomAD v4 |
| 1 | g.229432806G= | CA1226125971 | ACTA1 | c.204C= (p.Thr68=) c.69C= (p.Thr23=) | |
| 1 | g.229432806G>T | CA423755470 | ACTA1 | c.204C>A (p.Thr68=) c.69C>A (p.Thr23=) | |
| 1 | g.229432807G>A | CA345150698 | ACTA1 | c.203C>T (p.Thr68Ile) c.68C>T (p.Thr23Ile) | |
| 1 | g.229432807G>C | CA345150703 | ACTA1 | c.203C>G (p.Thr68Ser) c.68C>G (p.Thr23Ser) | |
| 1 | g.229432807G>T | CA345150704 | ACTA1 | c.203C>A (p.Thr68Asn) c.68C>A (p.Thr23Asn) | |
| 1 | g.229432808T>A | CA345150708 | ACTA1 | c.202A>T (p.Thr68Ser) c.67A>T (p.Thr23Ser) | |
| 1 | g.229432808T>C | CA345150714 | ACTA1 | c.202A>G (p.Thr68Ala) c.67A>G (p.Thr23Ala) | |
| 1 | g.229432808T>G | CA345150711 | ACTA1 | c.202A>C (p.Thr68Pro) c.67A>C (p.Thr23Pro) | |
| 1 | g.229432809C>A | CA423755474 | ACTA1 | c.201G>T (p.Leu67=) c.66G>T (p.Leu22=) | |
| 1 | g.229432809C>G | CA423755475 | ACTA1 | c.201G>C (p.Leu67=) c.66G>C (p.Leu22=) | |
| 1 | g.229432809C>T | CA423755476 | ACTA1 | c.201G>A (p.Leu67=) c.66G>A (p.Leu22=) | |
| 1 | g.229432810A>C | CA345150716 | ACTA1 | c.200T>G (p.Leu67Arg) c.65T>G (p.Leu22Arg) | |
| 1 | g.229432810A>G | CA345150719 | ACTA1 | c.200T>C (p.Leu67Pro) c.65T>C (p.Leu22Pro) | |
| 1 | g.229432810A>T | CA345150720 | ACTA1 | c.200T>A (p.Leu67Gln) c.65T>A (p.Leu22Gln) | |
| 1 | g.229432811G>A | CA423755478 | ACTA1 | c.199C>T (p.Leu67=) c.64C>T (p.Leu22=) | |
| 1 | g.229432811G>C | CA345150721 | ACTA1 | c.199C>G (p.Leu67Val) c.64C>G (p.Leu22Val) | |
| 1 | g.229432811G>T | CA345150722 | ACTA1 | c.199C>A (p.Leu67Met) c.64C>A (p.Leu22Met) | |
| 1 | g.229432812G>A | CA423755480 | ACTA1 | c.198C>T (p.Ile66=) c.63C>T (p.Ile21=) | dbSNP gnomAD v4 |
| 1 | g.229432812G>C | CA345150723 | ACTA1 | c.198C>G (p.Ile66Met) c.63C>G (p.Ile21Met) | |
| 1 | g.229432812G= | CA1226125972 | ACTA1 | c.198C= (p.Ile66=) c.63C= (p.Ile21=) | |
| 1 | g.229432812G>T | CA423755481 | ACTA1 | c.198C>A (p.Ile66=) c.63C>A (p.Ile21=) | |
| 1 | g.229432813A= | CA1226125973 | ACTA1 | c.197T= (p.Ile66=) c.62T= (p.Ile21=) | |
| 1 | g.229432813A>C | CA345150724 | ACTA1 | c.197T>G (p.Ile66Ser) c.62T>G (p.Ile21Ser) | ClinVar dbSNP |
| 1 | g.229432813A>G | CA345150725 | ACTA1 | c.197T>C (p.Ile66Thr) c.62T>C (p.Ile21Thr) | |
| 1 | g.229432813A>T | CA345150726 | ACTA1 | c.197T>A (p.Ile66Asn) c.62T>A (p.Ile21Asn) | ClinVar dbSNP |
| 1 | g.229432814T>A | CA345150728 | ACTA1 | c.196A>T (p.Ile66Phe) c.61A>T (p.Ile21Phe) | |
| 1 | g.229432814T>C | CA345150733 | ACTA1 | c.196A>G (p.Ile66Val) c.61A>G (p.Ile21Val) | |
| 1 | g.229432814T>G | CA345150743 | ACTA1 | c.196A>C (p.Ile66Leu) c.61A>C (p.Ile21Leu) | |
| 1 | g.229432815A= | CA1226125974 | ACTA1 | c.195T= (p.Gly65=) c.60T= (p.Gly20=) | |
| 1 | g.229432815A>C | CA423755485 | ACTA1 | c.195T>G (p.Gly65=) c.60T>G (p.Gly20=) | dbSNP |
| 1 | g.229432815A>G | CA423755486 | ACTA1 | c.195T>C (p.Gly65=) c.60T>C (p.Gly20=) | |
| 1 | g.229432815A>T | CA423755487 | ACTA1 | c.195T>A (p.Gly65=) c.60T>A (p.Gly20=) | |
| 1 | g.229432816C>A | CA345150753 | ACTA1 | c.194G>T (p.Gly65Val) c.59G>T (p.Gly20Val) | |
| 1 | g.229432816C>G | CA345150747 | ACTA1 | c.194G>C (p.Gly65Ala) c.59G>C (p.Gly20Ala) | |
| 1 | g.229432816C>T | CA345150750 | ACTA1 | c.194G>A (p.Gly65Asp) c.59G>A (p.Gly20Asp) | |
| 1 | g.229432817C>A | CA345150760 | ACTA1 | c.193G>T (p.Gly65Cys) c.58G>T (p.Gly20Cys) | |
| 1 | g.229432817C>G | CA345150762 | ACTA1 | c.193G>C (p.Gly65Arg) c.58G>C (p.Gly20Arg) | |
| 1 | g.229432817C>T | CA345150765 | ACTA1 | c.193G>A (p.Gly65Ser) c.58G>A (p.Gly20Ser) | |
| 1 | g.229432818T>A | CA345150768 | ACTA1 | c.192A>T (p.Arg64Ser) c.57A>T (p.Arg19Ser) | dbSNP |
| 1 | g.229432818T>C | CA423755492 | ACTA1 | c.192A>G (p.Arg64=) c.57A>G (p.Arg19=) | dbSNP |
| 1 | g.229432818T>G | CA345150773 | ACTA1 | c.192A>C (p.Arg64Ser) c.57A>C (p.Arg19Ser) | |
| 1 | g.229432818T= | CA1226125975 | ACTA1 | c.192A= (p.Arg64=) c.57A= (p.Arg19=) | |
| 1 | g.229432819C>A | CA345150775 | ACTA1 | c.191G>T (p.Arg64Ile) c.56G>T (p.Arg19Ile) | ClinVar dbSNP |
| 1 | g.229432819C>G | CA345150777 | ACTA1 | c.191G>C (p.Arg64Thr) c.56G>C (p.Arg19Thr) | |
| 1 | g.229432819C>T | CA345150779 | ACTA1 | c.191G>A (p.Arg64Lys) c.56G>A (p.Arg19Lys) | |
| 1 | g.229432820T>A | CA345150782 | ACTA1 | c.190A>T (p.Arg64Ter) c.55A>T (p.Arg19Ter) | |
| 1 | g.229432820T>C | CA345150783 | ACTA1 | c.190A>G (p.Arg64Gly) c.55A>G (p.Arg19Gly) | |
| 1 | g.229432820T>G | CA423755495 | ACTA1 | c.190A>C (p.Arg64=) c.55A>C (p.Arg19=) | dbSNP |
| 1 | g.229432820T= | CA1226125976 | ACTA1 | c.190A= (p.Arg64=) c.55A= (p.Arg19=) | |
| 1 | g.229432821C>A | CA345150784 | ACTA1 | c.189G>T (p.Lys63Asn) c.54G>T (p.Lys18Asn) | |
| 1 | g.229432821C>G | CA345150785 | ACTA1 | c.189G>C (p.Lys63Asn) c.54G>C (p.Lys18Asn) | |
| 1 | g.229432821C>T | CA423755501 | ACTA1 | c.189G>A (p.Lys63=) c.54G>A (p.Lys18=) | |
| 1 | g.229432822T>A | CA345150788 | ACTA1 | c.188A>T (p.Lys63Met) c.53A>T (p.Lys18Met) | |
| 1 | g.229432822T>C | CA345150797 | ACTA1 | c.188A>G (p.Lys63Arg) c.53A>G (p.Lys18Arg) | |
| 1 | g.229432822T>G | CA345150786 | ACTA1 | c.188A>C (p.Lys63Thr) c.53A>C (p.Lys18Thr) | |
| 1 | g.229432823T>A | CA345150798 | ACTA1 | c.187A>T (p.Lys63Ter) c.52A>T (p.Lys18Ter) | |
| 1 | g.229432823T>C | CA345150801 | ACTA1 | c.187A>G (p.Lys63Glu) c.52A>G (p.Lys18Glu) | gnomAD v4 |
| 1 | g.229432823T>G | CA345150799 | ACTA1 | c.187A>C (p.Lys63Gln) c.52A>C (p.Lys18Gln) | |
| 1 | g.229432824G>A | CA423755506 | ACTA1 | c.186C>T (p.Ser62=) c.51C>T (p.Ser17=) | gnomAD v4 |
| 1 | g.229432824G>C | CA345150803 | ACTA1 | c.186C>G (p.Ser62Arg) c.51C>G (p.Ser17Arg) | |
| 1 | g.229432824G>T | CA345150805 | ACTA1 | c.186C>A (p.Ser62Arg) c.51C>A (p.Ser17Arg) | |
| 1 | g.229432824_229432828delinsGCTCT | CA1226125977 | ACTA1 | c.182_186delinsAGAGC (p.Gln61=) c.47_51delinsAGAGC (p.Gln16=) | |
| 1 | g.229432825C>A | CA345150808 | ACTA1 | c.185G>T (p.Ser62Ile) c.50G>T (p.Ser17Ile) | |
| 1 | g.229432825C= | CA1226125978 | ACTA1 | c.185G= (p.Ser62=) c.50G= (p.Ser17=) | |
| 1 | g.229432825C>G | CA345150810 | ACTA1 | c.185G>C (p.Ser62Thr) c.50G>C (p.Ser17Thr) | |
| 1 | g.229432825C>T | CA345150812 | ACTA1 | c.185G>A (p.Ser62Asn) c.50G>A (p.Ser17Asn) | dbSNP gnomAD v4 |
| 1 | g.229432825_229432828del | CA916422671 | ACTA1 | c.182_185del (p.Gln61ProfsTer6) c.47_50del (p.Gln16ProfsTer6) | dbSNP |
| 1 | g.229432826T>A | CA345150813 | ACTA1 | c.184A>T (p.Ser62Cys) c.49A>T (p.Ser17Cys) | |
| 1 | g.229432826T>C | CA345150815 | ACTA1 | c.184A>G (p.Ser62Gly) c.49A>G (p.Ser17Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432826T>G | CA345150816 | ACTA1 | c.184A>C (p.Ser62Arg) c.49A>C (p.Ser17Arg) | |
| 1 | g.229432826T= | CA1226125979 | ACTA1 | c.184A= (p.Ser62=) c.49A= (p.Ser17=) | |
| 1 | g.229432827C>A | CA345150817 | ACTA1 | c.183G>T (p.Gln61His) c.48G>T (p.Gln16His) | |
| 1 | g.229432827C>G | CA345150819 | ACTA1 | c.183G>C (p.Gln61His) c.48G>C (p.Gln16His) | |
| 1 | g.229432827C>T | CA423755508 | ACTA1 | c.183G>A (p.Gln61=) c.48G>A (p.Gln16=) | |
| 1 | g.229432828T>A | CA345150822 | ACTA1 | c.182A>T (p.Gln61Leu) c.47A>T (p.Gln16Leu) | |
| 1 | g.229432828T>C | CA345150824 | ACTA1 | c.182A>G (p.Gln61Arg) c.47A>G (p.Gln16Arg) | |
| 1 | g.229432828T>G | CA345150827 | ACTA1 | c.182A>C (p.Gln61Pro) c.47A>C (p.Gln16Pro) | |
| 1 | g.229432828_229432829del | CA2650926824 | ACTA1 | c.181_182del (p.Gln61GlufsTer22) c.46_47del (p.Gln16GlufsTer22) | gnomAD v4 |
| 1 | g.229432829G>A | CA345150833 | ACTA1 | c.181C>T (p.Gln61Ter) c.46C>T (p.Gln16Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.229432829G>C | CA345150829 | ACTA1 | c.181C>G (p.Gln61Glu) c.46C>G (p.Gln16Glu) | |
| 1 | g.229432829G>T | CA345150831 | ACTA1 | c.181C>A (p.Gln61Lys) c.46C>A (p.Gln16Lys) | |
| 1 | g.229432830A= | CA1226125980 | ACTA1 | c.180T= (p.Ala60=) c.45T= (p.Ala15=) | |
| 1 | g.229432830A>C | CA423755510 | ACTA1 | c.180T>G (p.Ala60=) c.45T>G (p.Ala15=) | dbSNP |
| 1 | g.229432830A>G | CA423755512 | ACTA1 | c.180T>C (p.Ala60=) c.45T>C (p.Ala15=) | |
| 1 | g.229432830A>T | CA423755514 | ACTA1 | c.180T>A (p.Ala60=) c.45T>A (p.Ala15=) | |
| 1 | g.229432830_229432831insTTGT | CA916422673 | ACTA1 | c.179_180insACAA (p.Lys63GlufsTer22) c.44_45insACAA (p.Lys18GlufsTer22) | dbSNP |
| 1 | g.229432831G>A | CA345150836 | ACTA1 | c.179C>T (p.Ala60Val) c.44C>T (p.Ala15Val) | |
| 1 | g.229432831G>C | CA345150838 | ACTA1 | c.179C>G (p.Ala60Gly) c.44C>G (p.Ala15Gly) | |
| 1 | g.229432831G>T | CA345150840 | ACTA1 | c.179C>A (p.Ala60Asp) c.44C>A (p.Ala15Asp) | |
| 1 | g.229432832C>A | CA345150841 | ACTA1 | c.178G>T (p.Ala60Ser) c.43G>T (p.Ala15Ser) | |
| 1 | g.229432832C>G | CA345150842 | ACTA1 | c.178G>C (p.Ala60Pro) c.43G>C (p.Ala15Pro) | |
| 1 | g.229432832C>T | CA345150843 | ACTA1 | c.178G>A (p.Ala60Thr) c.43G>A (p.Ala15Thr) | |
| 1 | g.229432833C>A | CA345150844 | ACTA1 | c.177G>T (p.Glu59Asp) c.42G>T (p.Glu14Asp) | |
| 1 | g.229432833C>G | CA345150845 | ACTA1 | c.177G>C (p.Glu59Asp) c.42G>C (p.Glu14Asp) | |
| 1 | g.229432833C>T | CA423570168 | ACTA1 | c.177G>A (p.Glu59=) c.42G>A (p.Glu14=) | |
| 1 | g.229432834T>A | CA345150846 | ACTA1 | c.176A>T (p.Glu59Val) c.41A>T (p.Glu14Val) | |
| 1 | g.229432834T>C | CA345150847 | ACTA1 | c.176A>G (p.Glu59Gly) c.41A>G (p.Glu14Gly) | |
| 1 | g.229432834T>G | CA345150849 | ACTA1 | c.176A>C (p.Glu59Ala) c.41A>C (p.Glu14Ala) | |
| 1 | g.229432835C>A | CA345150854 | ACTA1 | c.175G>T (p.Glu59Ter) c.40G>T (p.Glu14Ter) | |
| 1 | g.229432835C>G | CA345150856 | ACTA1 | c.175G>C (p.Glu59Gln) c.40G>C (p.Glu14Gln) | |
| 1 | g.229432835C>T | CA345150851 | ACTA1 | c.175G>A (p.Glu59Lys) c.40G>A (p.Glu14Lys) | ClinVar |
| 1 | g.229432836G>A | CA423570200 | ACTA1 | c.174C>T (p.Asp58=) c.39C>T (p.Asp13=) | gnomAD v4 |
| 1 | g.229432836G>C | CA345150859 | ACTA1 | c.174C>G (p.Asp58Glu) c.39C>G (p.Asp13Glu) | |
| 1 | g.229432836G>T | CA345150864 | ACTA1 | c.174C>A (p.Asp58Glu) c.39C>A (p.Asp13Glu) | gnomAD v4 |
| 1 | g.229432837T>A | CA345150866 | ACTA1 | c.173A>T (p.Asp58Val) c.38A>T (p.Asp13Val) | |
| 1 | g.229432837T>C | CA345150868 | ACTA1 | c.173A>G (p.Asp58Gly) c.38A>G (p.Asp13Gly) | |
| 1 | g.229432837T>G | CA345150870 | ACTA1 | c.173A>C (p.Asp58Ala) c.38A>C (p.Asp13Ala) | |
| 1 | g.229432838C>A | CA345150871 | ACTA1 | c.172G>T (p.Asp58Tyr) c.37G>T (p.Asp13Tyr) | |
| 1 | g.229432838C= | CA1226125981 | ACTA1 | c.172G= (p.Asp58=) c.37G= (p.Asp13=) | |
| 1 | g.229432838C>G | CA345150873 | ACTA1 | c.172G>C (p.Asp58His) c.37G>C (p.Asp13His) | |
| 1 | g.229432838C>T | CA345150874 | ACTA1 | c.172G>A (p.Asp58Asn) c.37G>A (p.Asp13Asn) | ClinVar dbSNP |
| 1 | g.229432839G>A | CA423570236 | ACTA1 | c.171C>T (p.Gly57=) c.36C>T (p.Gly12=) | dbSNP COSMIC |
| 1 | g.229432839G>C | CA423570237 | ACTA1 | c.171C>G (p.Gly57=) c.36C>G (p.Gly12=) | |
| 1 | g.229432839G= | CA1226125982 | ACTA1 | c.171C= (p.Gly57=) c.36C= (p.Gly12=) | |
| 1 | g.229432839G>T | CA423570240 | ACTA1 | c.171C>A (p.Gly57=) c.36C>A (p.Gly12=) | dbSNP |
| 1 | g.229432840C>A | CA345150875 | ACTA1 | c.170G>T (p.Gly57Val) c.35G>T (p.Gly12Val) | |
| 1 | g.229432840C>G | CA345150883 | ACTA1 | c.170G>C (p.Gly57Ala) c.35G>C (p.Gly12Ala) | |
| 1 | g.229432840C>T | CA345150886 | ACTA1 | c.170G>A (p.Gly57Asp) c.35G>A (p.Gly12Asp) | |
| 1 | g.229432841C>A | CA345150889 | ACTA1 | c.169G>T (p.Gly57Cys) c.34G>T (p.Gly12Cys) | |
| 1 | g.229432841C>G | CA345150890 | ACTA1 | c.169G>C (p.Gly57Arg) c.34G>C (p.Gly12Arg) | ClinVar dbSNP |
| 1 | g.229432841C>T | CA345150888 | ACTA1 | c.169G>A (p.Gly57Ser) c.34G>A (p.Gly12Ser) | |
| 1 | g.229432842C>A | CA423570268 | ACTA1 | c.168G>T (p.Val56=) c.33G>T (p.Val11=) | |
| 1 | g.229432842C= | CA1226125983 | ACTA1 | c.168G= (p.Val56=) c.33G= (p.Val11=) | |
| 1 | g.229432842C>G | CA423570277 | ACTA1 | c.168G>C (p.Val56=) c.33G>C (p.Val11=) | |
| 1 | g.229432842C>T | CA1442903 | ACTA1 | c.168G>A (p.Val56=) c.33G>A (p.Val11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432843A>C | CA345150892 | ACTA1 | c.167T>G (p.Val56Gly) c.32T>G (p.Val11Gly) | |
| 1 | g.229432843A>G | CA345150893 | ACTA1 | c.167T>C (p.Val56Ala) c.32T>C (p.Val11Ala) | |
| 1 | g.229432843A>T | CA345150896 | ACTA1 | c.167T>A (p.Val56Glu) c.32T>A (p.Val11Glu) | |
| 1 | g.229432844C>A | CA345150907 | ACTA1 | c.166G>T (p.Val56Leu) c.31G>T (p.Val11Leu) | |
| 1 | g.229432844C>G | CA345150905 | ACTA1 | c.166G>C (p.Val56Leu) c.31G>C (p.Val11Leu) | |
| 1 | g.229432844C>T | CA345150897 | ACTA1 | c.166G>A (p.Val56Met) c.31G>A (p.Val11Met) | |
| 1 | g.229432845G>A | CA1442904 | ACTA1 | c.165C>T (p.Tyr55=) c.30C>T (p.Tyr10=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432845G>C | CA345150908 | ACTA1 | c.165C>G (p.Tyr55Ter) c.30C>G (p.Tyr10Ter) | |
| 1 | g.229432845G= | CA1226125984 | ACTA1 | c.165C= (p.Tyr55=) c.30C= (p.Tyr10=) | |
| 1 | g.229432845G>T | CA345150909 | ACTA1 | c.165C>A (p.Tyr55Ter) c.30C>A (p.Tyr10Ter) | |
| 1 | g.229432846T>A | CA345150911 | ACTA1 | c.164A>T (p.Tyr55Phe) c.29A>T (p.Tyr10Phe) | |
| 1 | g.229432846T>C | CA345150912 | ACTA1 | c.164A>G (p.Tyr55Cys) c.29A>G (p.Tyr10Cys) | |
| 1 | g.229432846T>G | CA345150913 | ACTA1 | c.164A>C (p.Tyr55Ser) c.29A>C (p.Tyr10Ser) | |
| 1 | g.229432847A>C | CA345150918 | ACTA1 | c.163T>G (p.Tyr55Asp) c.28T>G (p.Tyr10Asp) | |
| 1 | g.229432847A>G | CA345150915 | ACTA1 | c.163T>C (p.Tyr55His) c.28T>C (p.Tyr10His) | |
| 1 | g.229432847A>T | CA345150914 | ACTA1 | c.163T>A (p.Tyr55Asn) c.28T>A (p.Tyr10Asn) | |
| 1 | g.229432848G>A | CA423570296 | ACTA1 | c.162C>T (p.Ser54=) c.27C>T (p.Ser9=) | |
| 1 | g.229432848G>C | CA423570298 | ACTA1 | c.162C>G (p.Ser54=) c.27C>G (p.Ser9=) | |
| 1 | g.229432848G= | CA1226125985 | ACTA1 | c.162C= (p.Ser54=) c.27C= (p.Ser9=) | |
| 1 | g.229432848G>T | CA423570301 | ACTA1 | c.162C>A (p.Ser54=) c.27C>A (p.Ser9=) | |
| 1 | g.229432848_229432849insCT | CA916422674 | ACTA1 | c.161_162insAG (p.Tyr55AlafsTer14) c.26_27insAG (p.Tyr10AlafsTer14) | dbSNP |
| 1 | g.229432849G>A | CA345150920 | ACTA1 | c.161C>T (p.Ser54Phe) c.26C>T (p.Ser9Phe) | |
| 1 | g.229432849G>C | CA345150926 | ACTA1 | c.161C>G (p.Ser54Cys) c.26C>G (p.Ser9Cys) | |
| 1 | g.229432849G>T | CA345150924 | ACTA1 | c.161C>A (p.Ser54Tyr) c.26C>A (p.Ser9Tyr) | |
| 1 | g.229432849_229432851delinsGAA | CA1226125986 | ACTA1 | c.159_161delinsTTC (p.Asp53=) c.24_26delinsTTC (p.Asp8=) | |
| 1 | g.229432850A>C | CA345150928 | ACTA1 | c.160T>G (p.Ser54Ala) c.25T>G (p.Ser9Ala) | |
| 1 | g.229432850A>G | CA345150929 | ACTA1 | c.160T>C (p.Ser54Pro) c.25T>C (p.Ser9Pro) | |
| 1 | g.229432850A>T | CA345150931 | ACTA1 | c.160T>A (p.Ser54Thr) c.25T>A (p.Ser9Thr) | |
| 1 | g.229432850_229432851del | CA916422675 | ACTA1 | c.159_160del (p.Ser54LeufsTer29) c.24_25del (p.Ser9LeufsTer29) | dbSNP |
| 1 | g.229432851A= | CA1226125987 | ACTA1 | c.159T= (p.Asp53=) c.24T= (p.Asp8=) | |
| 1 | g.229432851A>C | CA345150933 | ACTA1 | c.159T>G (p.Asp53Glu) c.24T>G (p.Asp8Glu) | |
| 1 | g.229432851A>G | CA423570313 | ACTA1 | c.159T>C (p.Asp53=) c.24T>C (p.Asp8=) | dbSNP gnomAD v4 |
| 1 | g.229432851A>T | CA345150940 | ACTA1 | c.159T>A (p.Asp53Glu) c.24T>A (p.Asp8Glu) | |
| 1 | g.229432851_229432855delinsATCTT | CA1226125988 | ACTA1 | c.155_159delinsAAGAT (p.Lys52=) c.20_24delinsAAGAT (p.Lys7=) | |
| 1 | g.229432852T>A | CA345150943 | ACTA1 | c.158A>T (p.Asp53Val) c.23A>T (p.Asp8Val) | ClinVar dbSNP |
| 1 | g.229432852T>C | CA345150945 | ACTA1 | c.158A>G (p.Asp53Gly) c.23A>G (p.Asp8Gly) | |
| 1 | g.229432852T>G | CA345150948 | ACTA1 | c.158A>C (p.Asp53Ala) c.23A>C (p.Asp8Ala) | |
| 1 | g.229432855_229432858del | CA1226125989 | ACTA1 | c.155_158del (p.Lys52IlefsTer15) c.20_23del (p.Lys7IlefsTer15) | ClinVar dbSNP |
| 1 | g.229432853C>A | CA345150951 | ACTA1 | c.157G>T (p.Asp53Tyr) c.22G>T (p.Asp8Tyr) | |
| 1 | g.229432853C>G | CA345150952 | ACTA1 | c.157G>C (p.Asp53His) c.22G>C (p.Asp8His) | |
| 1 | g.229432853C>T | CA345150955 | ACTA1 | c.157G>A (p.Asp53Asn) c.22G>A (p.Asp8Asn) | |
| 1 | g.229432854T>A | CA345150958 | ACTA1 | c.156A>T (p.Lys52Asn) c.21A>T (p.Lys7Asn) | |
| 1 | g.229432854T>C | CA423570325 | ACTA1 | c.156A>G (p.Lys52=) c.21A>G (p.Lys7=) | dbSNP |
| 1 | g.229432854T>G | CA345150957 | ACTA1 | c.156A>C (p.Lys52Asn) c.21A>C (p.Lys7Asn) | |
| 1 | g.229432854T= | CA1226125990 | ACTA1 | c.156A= (p.Lys52=) c.21A= (p.Lys7=) | |
| 1 | g.229432855T>A | CA345150959 | ACTA1 | c.155A>T (p.Lys52Ile) c.20A>T (p.Lys7Ile) | |
| 1 | g.229432855T>C | CA345150960 | ACTA1 | c.155A>G (p.Lys52Arg) c.20A>G (p.Lys7Arg) | |
| 1 | g.229432855T>G | CA345150961 | ACTA1 | c.155A>C (p.Lys52Thr) c.20A>C (p.Lys7Thr) | |
| 1 | g.229432856T>A | CA345150962 | ACTA1 | c.154A>T (p.Lys52Ter) c.19A>T (p.Lys7Ter) | |
| 1 | g.229432856T>C | CA345150965 | ACTA1 | c.154A>G (p.Lys52Glu) c.19A>G (p.Lys7Glu) | |
| 1 | g.229432856T>G | CA345150969 | ACTA1 | c.154A>C (p.Lys52Gln) c.19A>C (p.Lys7Gln) | gnomAD v4 |
| 1 | g.229432857C>A | CA345150973 | ACTA1 | c.153G>T (p.Gln51His) c.18G>T (p.Gln6His) | |
| 1 | g.229432857C>G | CA345150974 | ACTA1 | c.153G>C (p.Gln51His) c.18G>C (p.Gln6His) | ClinVar dbSNP |
| 1 | g.229432857C>T | CA423570336 | ACTA1 | c.153G>A (p.Gln51=) c.18G>A (p.Gln6=) | |
| 1 | g.229432858T>A | CA345150976 | ACTA1 | c.152A>T (p.Gln51Leu) c.17A>T (p.Gln6Leu) | |
| 1 | g.229432858T>C | CA345150979 | ACTA1 | c.152A>G (p.Gln51Arg) c.17A>G (p.Gln6Arg) | |
| 1 | g.229432858T>G | CA345150980 | ACTA1 | c.152A>C (p.Gln51Pro) c.17A>C (p.Gln6Pro) | |
| 1 | g.229432859G>A | CA345150984 | ACTA1 | c.151C>T (p.Gln51Ter) c.16C>T (p.Gln6Ter) | gnomAD v4 |
| 1 | g.229432859G>C | CA345150987 | ACTA1 | c.151C>G (p.Gln51Glu) c.16C>G (p.Gln6Glu) | |
| 1 | g.229432859G>T | CA345150982 | ACTA1 | c.151C>A (p.Gln51Lys) c.16C>A (p.Gln6Lys) | |
| 1 | g.229432860A= | CA1226125991 | ACTA1 | c.150T= (p.Gly50=) c.15T= (p.Gly5=) | |
| 1 | g.229432860A>C | CA423570342 | ACTA1 | c.150T>G (p.Gly50=) c.15T>G (p.Gly5=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432860A>G | CA38816631 | ACTA1 | c.150T>C (p.Gly50=) c.15T>C (p.Gly5=) | ClinVar dbSNP |
| 1 | g.229432860A>T | CA423570343 | ACTA1 | c.150T>A (p.Gly50=) c.15T>A (p.Gly5=) | |
| 1 | g.229432861C>A | CA345150990 | ACTA1 | c.149G>T (p.Gly50Val) c.14G>T (p.Gly5Val) | ClinVar dbSNP |
| 1 | g.229432861C= | CA1226125992 | ACTA1 | c.149G= (p.Gly50=) c.14G= (p.Gly5=) | |
| 1 | g.229432861C>G | CA345150993 | ACTA1 | c.149G>C (p.Gly50Ala) c.14G>C (p.Gly5Ala) | |
| 1 | g.229432861C>T | CA345150994 | ACTA1 | c.149G>A (p.Gly50Asp) c.14G>A (p.Gly5Asp) | |
| 1 | g.229432863dup | CA2574151345 | ACTA1 | c.149dup (p.Gln51SerfsTer?) c.14dup (p.Gln6SerfsTer?) | |
| 1 | g.229432862C>A | CA345150998 | ACTA1 | c.148G>T (p.Gly50Cys) c.13G>T (p.Gly5Cys) | ClinVar dbSNP COSMIC |
| 1 | g.229432862C= | CA1226125993 | ACTA1 | c.148G= (p.Gly50=) c.13G= (p.Gly5=) | |
| 1 | g.229432862C>G | CA345151000 | ACTA1 | c.148G>C (p.Gly50Arg) c.13G>C (p.Gly5Arg) | |
| 1 | g.229432862C>T | CA345151002 | ACTA1 | c.148G>A (p.Gly50Ser) c.13G>A (p.Gly5Ser) | |
| 1 | g.229432863C>A | CA345151004 | ACTA1 | c.147G>T (p.Met49Ile) c.12G>T (p.Met4Ile) | |
| 1 | g.229432863C>G | CA345151005 | ACTA1 | c.147G>C (p.Met49Ile) c.12G>C (p.Met4Ile) | |
| 1 | g.229432863C>T | CA345151007 | ACTA1 | c.147G>A (p.Met49Ile) c.12G>A (p.Met4Ile) | |
| 1 | g.229432864A= | CA1226125994 | ACTA1 | c.146T= (p.Met49=) c.11T= (p.Met4=) | |
| 1 | g.229432864A>C | CA345151010 | ACTA1 | c.146T>G (p.Met49Arg) c.11T>G (p.Met4Arg) | ClinVar dbSNP |
| 1 | g.229432864A>G | CA345151013 | ACTA1 | c.146T>C (p.Met49Thr) c.11T>C (p.Met4Thr) | |
| 1 | g.229432864A>T | CA345151015 | ACTA1 | c.146T>A (p.Met49Lys) c.11T>A (p.Met4Lys) | |
| 1 | g.229432865T>A | CA345151018 | ACTA1 | c.145A>T (p.Met49Leu) c.10A>T (p.Met4Leu) | |
| 1 | g.229432865T>C | CA345151020 | ACTA1 | c.145A>G (p.Met49Val) c.10A>G (p.Met4Val) | ClinVar |
| 1 | g.229432865T>G | CA345151017 | ACTA1 | c.145A>C (p.Met49Leu) c.10A>C (p.Met4Leu) | |
| 1 | g.229432866A= | CA1226125995 | ACTA1 | c.144T= (p.Gly48=) c.9T= (p.Gly3=) | |
| 1 | g.229432866A>C | CA423570355 | ACTA1 | c.144T>G (p.Gly48=) c.9T>G (p.Gly3=) | dbSNP gnomAD v4 |
| 1 | g.229432866A>G | CA423570356 | ACTA1 | c.144T>C (p.Gly48=) c.9T>C (p.Gly3=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.229432866A>T | CA423570358 | ACTA1 | c.144T>A (p.Gly48=) c.9T>A (p.Gly3=) | |
| 1 | g.229432867C>A | CA345151023 | ACTA1 | c.143G>T (p.Gly48Val) c.8G>T (p.Gly3Val) | ClinVar dbSNP |
| 1 | g.229432867C= | CA1143538620 | ACTA1 | c.143G= (p.Gly48=) c.8G= (p.Gly3=) | |
| 1 | g.229432867C>G | CA345151024 | ACTA1 | c.143G>C (p.Gly48Ala) c.8G>C (p.Gly3Ala) | ClinVar |
| 1 | g.229432867C>T | CA344554 | ACTA1 | c.143G>A (p.Gly48Asp) c.8G>A (p.Gly3Asp) | ClinVar dbSNP |
| 1 | g.229432868C>A | CA345151027 | ACTA1 | c.142G>T (p.Gly48Cys) c.7G>T (p.Gly3Cys) | |
| 1 | g.229432868C= | CA1226125996 | ACTA1 | c.142G= (p.Gly48=) c.7G= (p.Gly3=) | |
| 1 | g.229432868C>G | CA345151030 | ACTA1 | c.142G>C (p.Gly48Arg) c.7G>C (p.Gly3Arg) | ClinVar dbSNP |
| 1 | g.229432868C>T | CA243213 | ACTA1 | c.142G>A (p.Gly48Ser) c.7G>A (p.Gly3Ser) | ClinVar dbSNP |
| 1 | g.229432869G>A | CA423570364 | ACTA1 | c.141C>T (p.Val47=) c.6C>T (p.Val2=) | dbSNP gnomAD v4 |
| 1 | g.229432869G>C | CA423570366 | ACTA1 | c.141C>G (p.Val47=) c.6C>G (p.Val2=) | dbSNP |
| 1 | g.229432869G= | CA1144882068 | ACTA1 | c.141C= (p.Val47=) c.6C= (p.Val2=) | |
| 1 | g.229432869G>T | CA1442905 | ACTA1 | c.141C>A (p.Val47=) c.6C>A (p.Val2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432870A>C | CA345151039 | ACTA1 | c.140T>G (p.Val47Gly) c.5T>G (p.Val2Gly) | |
| 1 | g.229432870A>G | CA345151040 | ACTA1 | c.140T>C (p.Val47Ala) c.5T>C (p.Val2Ala) | |
| 1 | g.229432870A>T | CA345151041 | ACTA1 | c.140T>A (p.Val47Asp) c.5T>A (p.Val2Asp) | |
| 1 | g.229432871C>A | CA345151042 | ACTA1 | c.139G>T (p.Val47Phe) c.4G>T (p.Val2Phe) | |
| 1 | g.229432871C>G | CA345151043 | ACTA1 | c.139G>C (p.Val47Leu) c.4G>C (p.Val2Leu) | |
| 1 | g.229432871C>T | CA345151046 | ACTA1 | c.139G>A (p.Val47Ile) c.4G>A (p.Val2Ile) | |
| 1 | g.229432872C>A | CA345151060 | ACTA1 | c.138G>T (p.Met46Ile) c.3G>T (p.Met1Ile) | |
| 1 | g.229432872C>G | CA345151058 | ACTA1 | c.138G>C (p.Met46Ile) c.3G>C (p.Met1Ile) | |
| 1 | g.229432872C>T | CA345151049 | ACTA1 | c.138G>A (p.Met46Ile) c.3G>A (p.Met1Ile) | |
| 1 | g.229432873A= | CA1226125997 | ACTA1 | c.137T= (p.Met46=) c.2T= (p.Met1=) | |
| 1 | g.229432873A>C | CA345151064 | ACTA1 | c.137T>G (p.Met46Arg) c.2T>G (p.Met1Arg) | |
| 1 | g.229432873A>G | CA16603510 | ACTA1 | c.137T>C (p.Met46Thr) c.2T>C (p.Met1Thr) | ClinVar dbSNP |
| 1 | g.229432873A>T | CA345151065 | ACTA1 | c.137T>A (p.Met46Lys) c.2T>A (p.Met1Lys) | |
| 1 | g.229432874T>A | CA345151067 | ACTA1 | c.136A>T (p.Met46Leu) c.1A>T (p.Met1Leu) | |
| 1 | g.229432874T>C | CA345151069 | ACTA1 | c.136A>G (p.Met46Val) c.1A>G (p.Met1Val) | |
| 1 | g.229432874T>G | CA345151068 | ACTA1 | c.136A>C (p.Met46Leu) c.1A>C (p.Met1Leu) | |
| 1 | g.229432875G>A | CA423570381 | ACTA1 | c.135C>T (p.Val45=) c.-1C>T (n.-1C>T) | |
| 1 | g.229432875G>C | CA423570378 | ACTA1 | c.135C>G (p.Val45=) c.-1C>G (n.-1C>G) | |
| 1 | g.229432875G>T | CA423570380 | ACTA1 | c.135C>A (p.Val45=) c.-1C>A (n.-1C>A) | |
| 1 | g.229432876A>C | CA345151070 | ACTA1 | c.134T>G (p.Val45Gly) c.-2T>G (n.-2T>G) | |
| 1 | g.229432876A>G | CA345151073 | ACTA1 | c.134T>C (p.Val45Ala) c.-2T>C (n.-2T>C) | |
| 1 | g.229432876A>T | CA345151071 | ACTA1 | c.134T>A (p.Val45Asp) c.-2T>A (n.-2T>A) | |
| 1 | g.229432877C>A | CA221483 | ACTA1 | c.133G>T (p.Val45Phe) c.-3G>T (n.-3G>T) | ClinVar dbSNP |
| 1 | g.229432877C= | CA1144233517 | ACTA1 | c.133G= (p.Val45=) c.-3G= (n.-3G=) | |
| 1 | g.229432877C>G | CA345151074 | ACTA1 | c.133G>C (p.Val45Leu) c.-3G>C (n.-3G>C) | |
| 1 | g.229432877C>T | CA345151077 | ACTA1 | c.133G>A (p.Val45Ile) c.-3G>A (n.-3G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432878del | CA2650926825 | ACTA1 | c.132del (p.Val45SerfsTer23) c.-4del (n.-4del) | gnomAD v4 |
| 1 | g.229432878G>A | CA151565 | ACTA1 | c.132C>T (p.Gly44=) c.-4C>T (n.-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432878G>C | CA423570390 | ACTA1 | c.132C>G (p.Gly44=) c.-4C>G (n.-4C>G) | |
| 1 | g.229432878G= | CA1142148245 | ACTA1 | c.132C= (p.Gly44=) c.-4C= (n.-4C=) | |
| 1 | g.229432878G>T | CA423570388 | ACTA1 | c.132C>A (p.Gly44=) c.-4C>A (n.-4C>A) | dbSNP |
| 1 | g.229432879C>A | CA345151083 | ACTA1 | c.131G>T (p.Gly44Val) c.-5G>T (n.-5G>T) | ClinVar dbSNP |
| 1 | g.229432879C= | CA1226125998 | ACTA1 | c.131G= (p.Gly44=) c.-5G= (n.-5G=) | |
| 1 | g.229432879C>G | CA345151085 | ACTA1 | c.131G>C (p.Gly44Ala) c.-5G>C (n.-5G>C) | |
| 1 | g.229432879C>T | CA345151087 | ACTA1 | c.131G>A (p.Gly44Asp) c.-5G>A (n.-5G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432880C>A | CA345151090 | ACTA1 | c.130G>T (p.Gly44Cys) c.-6G>T (n.-6G>T) | ClinVar dbSNP |
| 1 | g.229432880C= | CA1226125999 | ACTA1 | c.130G= (p.Gly44=) c.-6G= (n.-6G=) | |
| 1 | g.229432880C>G | CA345151093 | ACTA1 | c.130G>C (p.Gly44Arg) c.-6G>C (n.-6G>C) | |
| 1 | g.229432880C>T | CA345151095 | ACTA1 | c.130G>A (p.Gly44Ser) c.-6G>A (n.-6G>A) | |
| 1 | g.229432884_229432989del | CA529915361 | ACTA1 | c.129+2_130del c.-6-105_-6del | gnomAD v2 gnomAD v4 |
| 1 | g.229432881C>A | CA345151101 | ACTA1 | c.130-1G>T (n.130-1G>T) c.-6-1G>T (n.-6-1G>T) | |
| 1 | g.229432881C= | CA1226126000 | ACTA1 | c.130-1G= (n.130-1G=) c.-6-1G= (n.-6-1G=) | |
| 1 | g.229432881C>G | CA345151100 | ACTA1 | c.130-1G>C (n.130-1G>C) c.-6-1G>C (n.-6-1G>C) | |
| 1 | g.229432881C>T | CA345151098 | ACTA1 | c.130-1G>A (n.130-1G>A) c.-6-1G>A (n.-6-1G>A) | ClinVar dbSNP |
| 1 | g.229432882T>A | CA345151102 | ACTA1 | c.130-2A>T (n.130-2A>T) c.-6-2A>T (n.-6-2A>T) | |
| 1 | g.229432882T>C | CA345151104 | ACTA1 | c.130-2A>G (n.130-2A>G) c.-6-2A>G (n.-6-2A>G) | |
| 1 | g.229432882T>G | CA345151107 | ACTA1 | c.130-2A>C (n.130-2A>C) c.-6-2A>C (n.-6-2A>C) | |
| 1 | g.229432883G>A | CA2580062284 | ACTA1 | c.130-3C>T (n.130-3C>T) c.-6-3C>T (n.-6-3C>T) | ClinVar gnomAD v4 |
| 1 | g.229432883G>T | CA2748068711 | ACTA1 | c.130-3C>A (n.130-3C>A) c.-6-3C>A (n.-6-3C>A) | |
| 1 | g.229432884C= | CA1226126001 | ACTA1 | c.130-4G= (n.130-4G=) c.-6-4G= (n.-6-4G=) | |
| 1 | g.229432884C>T | CA529915362 | ACTA1 | c.130-4G>A (n.130-4G>A) c.-6-4G>A (n.-6-4G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432884_229432885delinsTG | CA2573131946 | ACTA1 | c.130-5_130-4delinsCA (n.130-5_130-4delinsCA) c.-6-5_-6-4delinsCA (n.-6-5_-6-4delinsCA) | ClinVar |
| 1 | g.229432885A= | CA1140285474 | ACTA1 | c.130-5T= (n.130-5T=) c.-6-5T= (n.-6-5T=) | |
| 1 | g.229432885A>C | CA2581682300 | ACTA1 | c.130-5T>G (n.130-5T>G) c.-6-5T>G (n.-6-5T>G) | |
| 1 | g.229432885A>G | CA147046 | ACTA1 | c.130-5T>C (n.130-5T>C) c.-6-5T>C (n.-6-5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432885A>T | CA2581682299 | ACTA1 | c.130-5T>A (n.130-5T>A) c.-6-5T>A (n.-6-5T>A) | ClinVar |
| 1 | g.229432886G>A | CA2650926826 | ACTA1 | c.130-6C>T (n.130-6C>T) c.-6-6C>T (n.-6-6C>T) | gnomAD v4 |
| 1 | g.229432889C>A | CA658656990 | ACTA1 | c.130-9G>T (n.130-9G>T) c.-6-9G>T (n.-6-9G>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432889C= | CA1226126002 | ACTA1 | c.130-9G= (n.130-9G=) c.-6-9G= (n.-6-9G=) | |
| 1 | g.229432889C>T | CA1013145808 | ACTA1 | c.130-9G>A (n.130-9G>A) c.-6-9G>A (n.-6-9G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432890C>A | CA38816663 | ACTA1 | c.130-10G>T (n.130-10G>T) c.-6-10G>T (n.-6-10G>T) | dbSNP |
| 1 | g.229432890C= | CA1140611014 | ACTA1 | c.130-10G= (n.130-10G=) c.-6-10G= (n.-6-10G=) | |
| 1 | g.229432890C>G | CA147045 | ACTA1 | c.130-10G>C (n.130-10G>C) c.-6-10G>C (n.-6-10G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432890C>T | CA2574151346 | ACTA1 | c.130-10G>A (n.130-10G>A) c.-6-10G>A (n.-6-10G>A) | gnomAD v4 |
| 1 | g.229432891G>C | CA1442906 | ACTA1 | c.130-11C>G (n.130-11C>G) c.-6-11C>G (n.-6-11C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432891G= | CA1143529864 | ACTA1 | c.130-11C= (n.130-11C=) c.-6-11C= (n.-6-11C=) | |
| 1 | g.229432891G>T | CA2697554961 | ACTA1 | c.130-11C>A (n.130-11C>A) c.-6-11C>A (n.-6-11C>A) | ClinVar |
| 1 | g.229432893G>A | CA529915363 | ACTA1 | c.130-13C>T (n.130-13C>T) c.-6-13C>T (n.-6-13C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432893G>C | CA1013145821 | ACTA1 | c.130-13C>G (n.130-13C>G) c.-6-13C>G (n.-6-13C>G) | gnomAD v3 gnomAD v4 |
| 1 | g.229432893G= | CA1226126003 | ACTA1 | c.130-13C= (n.130-13C=) c.-6-13C= (n.-6-13C=) |