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.229432403G>A | CA423755100 | ACTA1 | c.483C>T (p.Val161=) c.348C>T (p.Val116=) c.479+4C>T (n.479+4C>T) | |
| 1 | g.229432403G>C | CA423755102 | ACTA1 | c.483C>G (p.Val161=) c.348C>G (p.Val116=) c.479+4C>G (n.479+4C>G) | |
| 1 | g.229432403G>T | CA423755103 | ACTA1 | c.483C>A (p.Val161=) c.348C>A (p.Val116=) c.479+4C>A (n.479+4C>A) | gnomAD v4 |
| 1 | g.229432404A>C | CA345148761 | ACTA1 | c.482T>G (p.Val161Gly) c.347T>G (p.Val116Gly) c.479+3T>G (n.479+3T>G) | |
| 1 | g.229432404A>G | CA345148763 | ACTA1 | c.482T>C (p.Val161Ala) c.347T>C (p.Val116Ala) c.479+3T>C (n.479+3T>C) | |
| 1 | g.229432404A>T | CA345148767 | ACTA1 | c.482T>A (p.Val161Asp) c.347T>A (p.Val116Asp) c.479+3T>A (n.479+3T>A) | |
| 1 | g.229432405C>A | CA345148773 | ACTA1 | c.481G>T (p.Val161Phe) c.346G>T (p.Val116Phe) c.479+2G>T (n.479+2G>T) | |
| 1 | g.229432405C>G | CA345148777 | ACTA1 | c.481G>C (p.Val161Leu) c.346G>C (p.Val116Leu) c.479+2G>C (n.479+2G>C) | gnomAD v4 |
| 1 | g.229432405C>T | CA345148778 | ACTA1 | c.481G>A (p.Val161Ile) c.346G>A (p.Val116Ile) c.479+2G>A (n.479+2G>A) | gnomAD v4 |
| 1 | g.229432406G>A | CA345148779 | ACTA1 | c.480C>T (p.Gly160=) c.345C>T (p.Gly115=) c.479+1C>T (n.479+1C>T) | dbSNP gnomAD v4 |
| 1 | g.229432406G>C | CA345148780 | ACTA1 | c.480C>G (p.Gly160=) c.345C>G (p.Gly115=) c.479+1C>G (n.479+1C>G) | |
| 1 | g.229432406G= | CA1226125767 | ACTA1 | c.480C= (p.Gly160=) c.345C= (p.Gly115=) c.479+1C= (n.479+1C=) | |
| 1 | g.229432406G>T | CA345148781 | ACTA1 | c.480C>A (p.Gly160=) c.345C>A (p.Gly115=) c.479+1C>A (n.479+1C>A) | ClinVar dbSNP |
| 1 | g.229432407C>A | CA345148791 | ACTA1 | c.479G>T (p.Gly160Val) c.344G>T (p.Gly115Val) | |
| 1 | g.229432407C>G | CA345148785 | ACTA1 | c.479G>C (p.Gly160Ala) c.344G>C (p.Gly115Ala) | |
| 1 | g.229432407C>T | CA345148783 | ACTA1 | c.479G>A (p.Gly160Asp) c.344G>A (p.Gly115Asp) | |
| 1 | g.229432407_229432425delinsCCGTCGCCGGAGTCCAGCA | CA1226125768 | ACTA1 | c.461_479delinsTGCTGGACTCCGGCGACGG (p.Val154=) c.326_344delinsTGCTGGACTCCGGCGACGG (p.Val109=) | |
| 1 | g.229432408C>A | CA345148796 | ACTA1 | c.478G>T (p.Gly160Cys) c.343G>T (p.Gly115Cys) | |
| 1 | g.229432408C= | CA1226125769 | ACTA1 | c.478G= (p.Gly160=) c.343G= (p.Gly115=) | |
| 1 | g.229432408C>G | CA345148793 | ACTA1 | c.478G>C (p.Gly160Arg) c.343G>C (p.Gly115Arg) | |
| 1 | g.229432408C>T | CA16617085 | ACTA1 | c.478G>A (p.Gly160Ser) c.343G>A (p.Gly115Ser) | ClinVar dbSNP |
| 1 | g.229432410_229432427del | CA658656989 | ACTA1 | c.461_478del (p.Val154_Asp159del) c.326_343del (p.Val109_Asp114del) | ClinVar dbSNP |
| 1 | g.229432409G>A | CA1442848 | ACTA1 | c.477C>T (p.Asp159=) c.342C>T (p.Asp114=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.229432409G>C | CA345148803 | ACTA1 | c.477C>G (p.Asp159Glu) c.342C>G (p.Asp114Glu) | |
| 1 | g.229432409G= | CA1226125770 | ACTA1 | c.477C= (p.Asp159=) c.342C= (p.Asp114=) | |
| 1 | g.229432409G>T | CA345148817 | ACTA1 | c.477C>A (p.Asp159Glu) c.342C>A (p.Asp114Glu) | |
| 1 | g.229432410T>A | CA345148827 | ACTA1 | c.476A>T (p.Asp159Val) c.341A>T (p.Asp114Val) | |
| 1 | g.229432410T>C | CA345148823 | ACTA1 | c.476A>G (p.Asp159Gly) c.341A>G (p.Asp114Gly) | |
| 1 | g.229432410T>G | CA345148822 | ACTA1 | c.476A>C (p.Asp159Ala) c.341A>C (p.Asp114Ala) | |
| 1 | g.229432411C>A | CA345148831 | ACTA1 | c.475G>T (p.Asp159Tyr) c.340G>T (p.Asp114Tyr) | |
| 1 | g.229432411C>G | CA345148834 | ACTA1 | c.475G>C (p.Asp159His) c.340G>C (p.Asp114His) | |
| 1 | g.229432411C>T | CA345148837 | ACTA1 | c.475G>A (p.Asp159Asn) c.340G>A (p.Asp114Asn) | COSMIC |
| 1 | g.229432412G>A | CA423755112 | ACTA1 | c.474C>T (p.Gly158=) c.339C>T (p.Gly113=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432412G>C | CA423755114 | ACTA1 | c.474C>G (p.Gly158=) c.339C>G (p.Gly113=) | |
| 1 | g.229432412G= | CA1226125771 | ACTA1 | c.474C= (p.Gly158=) c.339C= (p.Gly113=) | |
| 1 | g.229432412G>T | CA423755116 | ACTA1 | c.474C>A (p.Gly158=) c.339C>A (p.Gly113=) | dbSNP gnomAD v4 |
| 1 | g.229432413C>A | CA345148841 | ACTA1 | c.473G>T (p.Gly158Val) c.338G>T (p.Gly113Val) | gnomAD v4 |
| 1 | g.229432413C>G | CA345148843 | ACTA1 | c.473G>C (p.Gly158Ala) c.338G>C (p.Gly113Ala) | |
| 1 | g.229432413C>T | CA345148846 | ACTA1 | c.473G>A (p.Gly158Asp) c.338G>A (p.Gly113Asp) | |
| 1 | g.229432414del | CA2650926676 | ACTA1 | c.473del (p.Gly158AlafsTer?) c.338del (p.Gly113AlafsTer?) c.473del (p.Gly158AlafsTer5) | gnomAD v4 |
| 1 | g.229432414C>A | CA345148850 | ACTA1 | c.472G>T (p.Gly158Cys) c.337G>T (p.Gly113Cys) | gnomAD v4 |
| 1 | g.229432414C>G | CA345148857 | ACTA1 | c.472G>C (p.Gly158Arg) c.337G>C (p.Gly113Arg) | |
| 1 | g.229432414C>T | CA345148854 | ACTA1 | c.472G>A (p.Gly158Ser) c.337G>A (p.Gly113Ser) | gnomAD v4 |
| 1 | g.229432415G>A | CA1442849 | ACTA1 | c.471C>T (p.Ser157=) c.336C>T (p.Ser112=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432415G>C | CA423755120 | ACTA1 | c.471C>G (p.Ser157=) c.336C>G (p.Ser112=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432415G= | CA1226125772 | ACTA1 | c.471C= (p.Ser157=) c.336C= (p.Ser112=) | |
| 1 | g.229432415G>T | CA423755121 | ACTA1 | c.471C>A (p.Ser157=) c.336C>A (p.Ser112=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432416G>A | CA345148861 | ACTA1 | c.470C>T (p.Ser157Phe) c.335C>T (p.Ser112Phe) | |
| 1 | g.229432416G>C | CA345148863 | ACTA1 | c.470C>G (p.Ser157Cys) c.335C>G (p.Ser112Cys) | |
| 1 | g.229432416G>T | CA345148866 | ACTA1 | c.470C>A (p.Ser157Tyr) c.335C>A (p.Ser112Tyr) | |
| 1 | g.229432417A>C | CA345148869 | ACTA1 | c.469T>G (p.Ser157Ala) c.334T>G (p.Ser112Ala) | |
| 1 | g.229432417A>G | CA345148872 | ACTA1 | c.469T>C (p.Ser157Pro) c.334T>C (p.Ser112Pro) | |
| 1 | g.229432417A>T | CA345148874 | ACTA1 | c.469T>A (p.Ser157Thr) c.334T>A (p.Ser112Thr) | |
| 1 | g.229432418G>A | CA423755124 | ACTA1 | c.468C>T (p.Asp156=) c.333C>T (p.Asp111=) | |
| 1 | g.229432418G>C | CA345148877 | ACTA1 | c.468C>G (p.Asp156Glu) c.333C>G (p.Asp111Glu) | COSMIC |
| 1 | g.229432418G>T | CA345148880 | ACTA1 | c.468C>A (p.Asp156Glu) c.333C>A (p.Asp111Glu) | |
| 1 | g.229432419T>A | CA345148895 | ACTA1 | c.467A>T (p.Asp156Val) c.332A>T (p.Asp111Val) | |
| 1 | g.229432419T>C | CA345148896 | ACTA1 | c.467A>G (p.Asp156Gly) c.332A>G (p.Asp111Gly) | |
| 1 | g.229432419T>G | CA345148897 | ACTA1 | c.467A>C (p.Asp156Ala) c.332A>C (p.Asp111Ala) | |
| 1 | g.229432419_229432422del | CA2650926677 | ACTA1 | c.464_467del (p.Leu155ProfsTer?) c.329_332del (p.Leu110ProfsTer?) c.464_467del (p.Leu155ProfsTer7) | gnomAD v4 |
| 1 | g.229432420C>A | CA345148902 | ACTA1 | c.466G>T (p.Asp156Tyr) c.331G>T (p.Asp111Tyr) | |
| 1 | g.229432420C>G | CA345148903 | ACTA1 | c.466G>C (p.Asp156His) c.331G>C (p.Asp111His) | |
| 1 | g.229432420C>T | CA345148899 | ACTA1 | c.466G>A (p.Asp156Asn) c.331G>A (p.Asp111Asn) | |
| 1 | g.229432421C>A | CA423755127 | ACTA1 | c.465G>T (p.Leu155=) c.330G>T (p.Leu110=) | |
| 1 | g.229432421C= | CA1226125773 | ACTA1 | c.465G= (p.Leu155=) c.330G= (p.Leu110=) | |
| 1 | g.229432421C>G | CA423755129 | ACTA1 | c.465G>C (p.Leu155=) c.330G>C (p.Leu110=) | dbSNP |
| 1 | g.229432421C>T | CA423755131 | ACTA1 | c.465G>A (p.Leu155=) c.330G>A (p.Leu110=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432422A>C | CA345148910 | ACTA1 | c.464T>G (p.Leu155Arg) c.329T>G (p.Leu110Arg) | |
| 1 | g.229432422A>G | CA345148916 | ACTA1 | c.464T>C (p.Leu155Pro) c.329T>C (p.Leu110Pro) | |
| 1 | g.229432422A>T | CA345148913 | ACTA1 | c.464T>A (p.Leu155Gln) c.329T>A (p.Leu110Gln) | |
| 1 | g.229432423G>A | CA423755136 | ACTA1 | c.463C>T (p.Leu155=) c.328C>T (p.Leu110=) | |
| 1 | g.229432423G>C | CA345148918 | ACTA1 | c.463C>G (p.Leu155Val) c.328C>G (p.Leu110Val) | |
| 1 | g.229432423G>T | CA345148919 | ACTA1 | c.463C>A (p.Leu155Met) c.328C>A (p.Leu110Met) | gnomAD v4 COSMIC |
| 1 | g.229432424C>A | CA1442850 | ACTA1 | c.462G>T (p.Val154=) c.327G>T (p.Val109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432424C= | CA1148306544 | ACTA1 | c.462G= (p.Val154=) c.327G= (p.Val109=) | |
| 1 | g.229432424C>G | CA423755137 | ACTA1 | c.462G>C (p.Val154=) c.327G>C (p.Val109=) | |
| 1 | g.229432424C>T | CA423755138 | ACTA1 | c.462G>A (p.Val154=) c.327G>A (p.Val109=) | dbSNP |
| 1 | g.229432425A= | CA1226125774 | ACTA1 | c.461T= (p.Val154=) c.326T= (p.Val109=) | |
| 1 | g.229432425A>C | CA345148920 | ACTA1 | c.461T>G (p.Val154Gly) c.326T>G (p.Val109Gly) | |
| 1 | g.229432425A>G | CA345148921 | ACTA1 | c.461T>C (p.Val154Ala) c.326T>C (p.Val109Ala) | ClinVar dbSNP |
| 1 | g.229432425A>T | CA345148923 | ACTA1 | c.461T>A (p.Val154Glu) c.326T>A (p.Val109Glu) | |
| 1 | g.229432426C>A | CA1442851 | ACTA1 | c.460G>T (p.Val154Leu) c.325G>T (p.Val109Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432426C= | CA1226125775 | ACTA1 | c.460G= (p.Val154=) c.325G= (p.Val109=) | |
| 1 | g.229432426C>G | CA10575964 | ACTA1 | c.460G>C (p.Val154Leu) c.325G>C (p.Val109Leu) | ClinVar dbSNP |
| 1 | g.229432426C>T | CA345148945 | ACTA1 | c.460G>A (p.Val154Met) c.325G>A (p.Val109Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.229432427G>A | CA423755141 | ACTA1 | c.459C>T (p.Ile153=) c.324C>T (p.Ile108=) | dbSNP gnomAD v4 |
| 1 | g.229432427G>C | CA1442852 | ACTA1 | c.459C>G (p.Ile153Met) c.324C>G (p.Ile108Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432427G= | CA1226125776 | ACTA1 | c.459C= (p.Ile153=) c.324C= (p.Ile108=) | |
| 1 | g.229432427G>T | CA423755143 | ACTA1 | c.459C>A (p.Ile153=) c.324C>A (p.Ile108=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432428A>C | CA345148949 | ACTA1 | c.458T>G (p.Ile153Ser) c.323T>G (p.Ile108Ser) | |
| 1 | g.229432428A>G | CA345148950 | ACTA1 | c.458T>C (p.Ile153Thr) c.323T>C (p.Ile108Thr) | |
| 1 | g.229432428A>T | CA345148951 | ACTA1 | c.458T>A (p.Ile153Asn) c.323T>A (p.Ile108Asn) | |
| 1 | g.229432429T>A | CA345148954 | ACTA1 | c.457A>T (p.Ile153Phe) c.322A>T (p.Ile108Phe) | dbSNP |
| 1 | g.229432429T>C | CA345148958 | ACTA1 | c.457A>G (p.Ile153Val) c.322A>G (p.Ile108Val) | |
| 1 | g.229432429T>G | CA345148957 | ACTA1 | c.457A>C (p.Ile153Leu) c.322A>C (p.Ile108Leu) | ClinVar gnomAD v4 |
| 1 | g.229432429T= | CA1226125777 | ACTA1 | c.457A= (p.Ile153=) c.322A= (p.Ile108=) | |
| 1 | g.229432430G>A | CA423755144 | ACTA1 | c.456C>T (p.Gly152=) c.321C>T (p.Gly107=) | gnomAD v4 |
| 1 | g.229432430G>C | CA423755145 | ACTA1 | c.456C>G (p.Gly152=) c.321C>G (p.Gly107=) | |
| 1 | g.229432430G>T | CA423755146 | ACTA1 | c.456C>A (p.Gly152=) c.321C>A (p.Gly107=) | |
| 1 | g.229432431C>A | CA345148960 | ACTA1 | c.455G>T (p.Gly152Val) c.320G>T (p.Gly107Val) | |
| 1 | g.229432431C>G | CA345148964 | ACTA1 | c.455G>C (p.Gly152Ala) c.320G>C (p.Gly107Ala) | |
| 1 | g.229432431C>T | CA345148971 | ACTA1 | c.455G>A (p.Gly152Asp) c.320G>A (p.Gly107Asp) | gnomAD v4 |
| 1 | g.229432433_229432556del | CA2650926678 | ACTA1 | c.454+2_455del c.319+2_320del | gnomAD v4 |
| 1 | g.229432432C>A | CA38815960 | ACTA1 | c.455-1G>T (n.455-1G>T) c.320-1G>T (n.320-1G>T) | dbSNP |
| 1 | g.229432432C= | CA1226125778 | ACTA1 | c.455-1G= (n.455-1G=) c.320-1G= (n.320-1G=) | |
| 1 | g.229432432C>G | CA345148974 | ACTA1 | c.455-1G>C (n.455-1G>C) c.320-1G>C (n.320-1G>C) | |
| 1 | g.229432432C>T | CA345148975 | ACTA1 | c.455-1G>A (n.455-1G>A) c.320-1G>A (n.320-1G>A) | |
| 1 | g.229432433T>A | CA345148976 | ACTA1 | c.455-2A>T (n.455-2A>T) c.320-2A>T (n.320-2A>T) | ClinVar dbSNP |
| 1 | g.229432433T>C | CA345148978 | ACTA1 | c.455-2A>G (n.455-2A>G) c.320-2A>G (n.320-2A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432433T>G | CA38815977 | ACTA1 | c.455-2A>C (n.455-2A>C) c.320-2A>C (n.320-2A>C) | dbSNP gnomAD v4 |
| 1 | g.229432433T= | CA1141302247 | ACTA1 | c.455-2A= (n.455-2A=) c.320-2A= (n.320-2A=) | |
| 1 | g.229432434G>A | CA1226125779 | ACTA1 | c.455-3C>T (n.455-3C>T) c.320-3C>T (n.320-3C>T) | dbSNP gnomAD v4 |
| 1 | g.229432434G= | CA1226125780 | ACTA1 | c.455-3C= (n.455-3C=) c.320-3C= (n.320-3C=) | |
| 1 | g.229432435_229432437delinsTGC | CA1226125781 | ACTA1 | c.455-6_455-4delinsGCA (n.455-6_455-4delinsGCA) c.320-6_320-4delinsGCA (n.320-6_320-4delinsGCA) | |
| 1 | g.229432436G>T | CA2650926679 | ACTA1 | c.455-5C>A (n.455-5C>A) c.320-5C>A (n.320-5C>A) | gnomAD v4 |
| 1 | g.229432443_229432444del | CA1442853 | ACTA1 | c.455-6_455-5del (n.455-6_455-5del) c.320-6_320-5del (n.320-6_320-5del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432437C>A | CA529915293 | ACTA1 | c.455-6G>T (n.455-6G>T) c.320-6G>T (n.320-6G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432437C= | CA1148560450 | ACTA1 | c.455-6G= (n.455-6G=) c.320-6G= (n.320-6G=) | |
| 1 | g.229432437C>G | CA1442854 | ACTA1 | c.455-6G>C (n.455-6G>C) c.320-6G>C (n.320-6G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432437C>T | CA2650926680 | ACTA1 | c.455-6G>A (n.455-6G>A) c.320-6G>A (n.320-6G>A) | gnomAD v4 |
| 1 | g.229432438G>A | CA1226125783 | ACTA1 | c.455-7C>T (n.455-7C>T) c.320-7C>T (n.320-7C>T) | dbSNP gnomAD v4 |
| 1 | g.229432438G= | CA1226125782 | ACTA1 | c.455-7C= (n.455-7C=) c.320-7C= (n.320-7C=) | |
| 1 | g.229432438G>T | CA1442855 | ACTA1 | c.455-7C>A (n.455-7C>A) c.320-7C>A (n.320-7C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432439C>A | CA2650926681 | ACTA1 | c.455-8G>T (n.455-8G>T) c.320-8G>T (n.320-8G>T) | gnomAD v4 |
| 1 | g.229432439C= | CA1226125784 | ACTA1 | c.455-8G= (n.455-8G=) c.320-8G= (n.320-8G=) | |
| 1 | g.229432439C>T | CA529915294 | ACTA1 | c.455-8G>A (n.455-8G>A) c.320-8G>A (n.320-8G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432440G>A | CA2512323376 | ACTA1 | c.455-9C>T (n.455-9C>T) c.320-9C>T (n.320-9C>T) | |
| 1 | g.229432440G>C | CA1442856 | ACTA1 | c.455-9C>G (n.455-9C>G) c.320-9C>G (n.320-9C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432440G= | CA1226125785 | ACTA1 | c.455-9C= (n.455-9C=) c.320-9C= (n.320-9C=) | |
| 1 | g.229432440G>T | CA1226125786 | ACTA1 | c.455-9C>A (n.455-9C>A) c.320-9C>A (n.320-9C>A) | dbSNP gnomAD v4 |
| 1 | g.229432441C>A | CA732580977 | ACTA1 | c.455-10G>T (n.455-10G>T) c.320-10G>T (n.320-10G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432441C= | CA1226125787 | ACTA1 | c.455-10G= (n.455-10G=) c.320-10G= (n.320-10G=) | |
| 1 | g.229432441C>T | CA529915295 | ACTA1 | c.455-10G>A (n.455-10G>A) c.320-10G>A (n.320-10G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432442G>T | CA2574151308 | ACTA1 | c.455-11C>A (n.455-11C>A) c.320-11C>A (n.320-11C>A) | gnomAD v4 |
| 1 | g.229432451_229432530del | CA1442857 | ACTA1 | c.454+35_455-11del (n.454+35_455-11del) c.319+35_320-11del (n.319+35_320-11del) | ExAC gnomAD v4 |
| 1 | g.229432443C>A | CA1442858 | ACTA1 | c.455-12G>T (n.455-12G>T) c.320-12G>T (n.320-12G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432443C= | CA1143753718 | ACTA1 | c.455-12G= (n.455-12G=) c.320-12G= (n.320-12G=) | |
| 1 | g.229432443C>G | CA2650926682 | ACTA1 | c.455-12G>C (n.455-12G>C) c.320-12G>C (n.320-12G>C) | gnomAD v4 |
| 1 | g.229432444G>A | CA2574151309 | ACTA1 | c.455-13C>T (n.455-13C>T) c.320-13C>T (n.320-13C>T) | gnomAD v4 |
| 1 | g.229432444G>C | CA2650926683 | ACTA1 | c.455-13C>G (n.455-13C>G) c.320-13C>G (n.320-13C>G) | gnomAD v4 |
| 1 | g.229432444G= | CA1226125788 | ACTA1 | c.455-13C= (n.455-13C=) c.320-13C= (n.320-13C=) | |
| 1 | g.229432444G>T | CA529915296 | ACTA1 | c.455-13C>A (n.455-13C>A) c.320-13C>A (n.320-13C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432445_229432449delinsGGAGA | CA1226125789 | ACTA1 | c.455-18_455-14delinsTCTCC (n.455-18_455-14delinsTCTCC) c.320-18_320-14delinsTCTCC (n.320-18_320-14delinsTCTCC) | |
| 1 | g.229432446G>A | CA529915298 | ACTA1 | c.455-15C>T (n.455-15C>T) c.320-15C>T (n.320-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432446G>C | CA1226125791 | ACTA1 | c.455-15C>G (n.455-15C>G) c.320-15C>G (n.320-15C>G) | dbSNP |
| 1 | g.229432446G= | CA1226125790 | ACTA1 | c.455-15C= (n.455-15C=) c.320-15C= (n.320-15C=) | |
| 1 | g.229432451_229432452del | CA732580982 | ACTA1 | c.455-16_455-15del (n.455-16_455-15del) c.320-16_320-15del (n.320-16_320-15del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432449_229432452del | CA529915297 | ACTA1 | c.455-18_455-15del (n.455-18_455-15del) c.320-18_320-15del (n.320-18_320-15del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432449A>C | CA2748068677 | ACTA1 | c.455-18T>G (n.455-18T>G) c.320-18T>G (n.320-18T>G) | |
| 1 | g.229432449A>G | CA2650926684 | ACTA1 | c.455-18T>C (n.455-18T>C) c.320-18T>C (n.320-18T>C) | gnomAD v4 |
| 1 | g.229432450G>C | CA2650926685 | ACTA1 | c.455-19C>G (n.455-19C>G) c.320-19C>G (n.320-19C>G) | gnomAD v4 |
| 1 | g.229432455_229432458del | CA2574151310 | ACTA1 | c.455-22_455-19del (n.455-22_455-19del) c.320-22_320-19del (n.320-22_320-19del) | gnomAD v4 |
| 1 | g.229432451del | CA2650926686 | ACTA1 | c.455-20del (n.455-20del) c.320-20del (n.320-20del) | gnomAD v4 |
| 1 | g.229432451A= | CA1226125792 | ACTA1 | c.455-20T= (n.455-20T=) c.320-20T= (n.320-20T=) | |
| 1 | g.229432451A>T | CA1226125793 | ACTA1 | c.455-20T>A (n.455-20T>A) c.320-20T>A (n.320-20T>A) | dbSNP |
| 1 | g.229432452G>A | CA2748068678 | ACTA1 | c.455-21C>T (n.455-21C>T) c.320-21C>T (n.320-21C>T) | |
| 1 | g.229432452G>T | CA2650926687 | ACTA1 | c.455-21C>A (n.455-21C>A) c.320-21C>A (n.320-21C>A) | gnomAD v4 |
| 1 | g.229432452_229432455delinsGTGA | CA1226125794 | ACTA1 | c.455-24_455-21delinsTCAC (n.455-24_455-21delinsTCAC) c.320-24_320-21delinsTCAC (n.320-24_320-21delinsTCAC) | |
| 1 | g.229432453T>A | CA2650926688 | ACTA1 | c.455-22A>T (n.455-22A>T) c.320-22A>T (n.320-22A>T) | gnomAD v4 |
| 1 | g.229432453T>G | CA1013145553 | ACTA1 | c.455-22A>C (n.455-22A>C) c.320-22A>C (n.320-22A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432453T= | CA1226125795 | ACTA1 | c.455-22A= (n.455-22A=) c.320-22A= (n.320-22A=) | |
| 1 | g.229432453_229432455del | CA732580983 | ACTA1 | c.455-24_455-22del (n.455-24_455-22del) c.320-24_320-22del (n.320-24_320-22del) | dbSNP |
| 1 | g.229432454G>A | CA2650926689 | ACTA1 | c.455-23C>T (n.455-23C>T) c.320-23C>T (n.320-23C>T) | gnomAD v4 |
| 1 | g.229432454G>T | CA2650926690 | ACTA1 | c.455-23C>A (n.455-23C>A) c.320-23C>A (n.320-23C>A) | gnomAD v4 |
| 1 | g.229432455A>G | CA2650926691 | ACTA1 | c.455-24T>C (n.455-24T>C) c.320-24T>C (n.320-24T>C) | gnomAD v4 |
| 1 | g.229432456G>A | CA2650926693 | ACTA1 | c.455-25C>T (n.455-25C>T) c.320-25C>T (n.320-25C>T) | gnomAD v4 |
| 1 | g.229432456G>C | CA2650926694 | ACTA1 | c.455-25C>G (n.455-25C>G) c.320-25C>G (n.320-25C>G) | gnomAD v4 |
| 1 | g.229432456_229432459del | CA2650926692 | ACTA1 | c.455-28_455-25del (n.455-28_455-25del) c.320-28_320-25del (n.320-28_320-25del) | gnomAD v4 |
| 1 | g.229432457T>C | CA732580986 | ACTA1 | c.455-26A>G (n.455-26A>G) c.320-26A>G (n.320-26A>G) | dbSNP |
| 1 | g.229432457T>G | CA1442859 | ACTA1 | c.455-26A>C (n.455-26A>C) c.320-26A>C (n.320-26A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432457T= | CA1226125796 | ACTA1 | c.455-26A= (n.455-26A=) c.320-26A= (n.320-26A=) | |
| 1 | g.229432458G>C | CA732580993 | ACTA1 | c.455-27C>G (n.455-27C>G) c.320-27C>G (n.320-27C>G) | dbSNP |
| 1 | g.229432458G= | CA1226125797 | ACTA1 | c.455-27C= (n.455-27C=) c.320-27C= (n.320-27C=) | |
| 1 | g.229432459G>C | CA529915299 | ACTA1 | c.455-28C>G (n.455-28C>G) c.320-28C>G (n.320-28C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432459G= | CA1226125798 | ACTA1 | c.455-28C= (n.455-28C=) c.320-28C= (n.320-28C=) | |
| 1 | g.229432460_229432461del | CA2650926695 | ACTA1 | c.455-30_455-29del (n.455-30_455-29del) c.320-30_320-29del (n.320-30_320-29del) | gnomAD v4 |
| 1 | g.229432468_229432542del | CA2650926696 | ACTA1 | c.454+22_455-29del (n.454+22_455-29del) c.319+22_320-29del (n.319+22_320-29del) | gnomAD v4 |
| 1 | g.229432461_229432462delinsTG | CA1226125799 | ACTA1 | c.455-31_455-30delinsCA (n.455-31_455-30delinsCA) c.320-31_320-30delinsCA (n.320-31_320-30delinsCA) | |
| 1 | g.229432466del | CA529915300 | ACTA1 | c.455-31del (n.455-31del) c.320-31del (n.320-31del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432469_229432524del | CA2650926697 | ACTA1 | c.454+39_455-31del (n.454+39_455-31del) c.319+39_320-31del (n.319+39_320-31del) | gnomAD v4 |
| 1 | g.229432463G>C | CA2650926698 | ACTA1 | c.455-32C>G (n.455-32C>G) c.320-32C>G (n.320-32C>G) | gnomAD v4 |
| 1 | g.229432464G>T | CA2650926699 | ACTA1 | c.455-33C>A (n.455-33C>A) c.320-33C>A (n.320-33C>A) | gnomAD v4 |
| 1 | g.229432465G>A | CA529915301 | ACTA1 | c.455-34C>T (n.455-34C>T) c.320-34C>T (n.320-34C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432465G= | CA1226125800 | ACTA1 | c.455-34C= (n.455-34C=) c.320-34C= (n.320-34C=) | |
| 1 | g.229432465G>T | CA2650926700 | ACTA1 | c.455-34C>A (n.455-34C>A) c.320-34C>A (n.320-34C>A) | gnomAD v4 |
| 1 | g.229432466G>A | CA2650926701 | ACTA1 | c.455-35C>T (n.455-35C>T) c.320-35C>T (n.320-35C>T) | gnomAD v4 |
| 1 | g.229432467C>A | CA529915302 | ACTA1 | c.455-36G>T (n.455-36G>T) c.320-36G>T (n.320-36G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432467C= | CA1226125801 | ACTA1 | c.455-36G= (n.455-36G=) c.320-36G= (n.320-36G=) | |
| 1 | g.229432467C>T | CA529915303 | ACTA1 | c.455-36G>A (n.455-36G>A) c.320-36G>A (n.320-36G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432467_229432499del | CA2650926702 | ACTA1 | c.454+57_455-36del (n.454+57_455-36del) c.319+57_320-36del (n.319+57_320-36del) | gnomAD v4 |
| 1 | g.229432467_229432468insAGCGG | CA2650926703 | ACTA1 | c.455-37_455-36insCCGCT (n.455-37_455-36insCCGCT) c.320-37_320-36insCCGCT (n.320-37_320-36insCCGCT) | gnomAD v4 |
| 1 | g.229432468G>A | CA529915304 | ACTA1 | c.455-37C>T (n.455-37C>T) c.320-37C>T (n.320-37C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432468G= | CA1226125802 | ACTA1 | c.455-37C= (n.455-37C=) c.320-37C= (n.320-37C=) | |
| 1 | g.229432468G>T | CA2650926704 | ACTA1 | c.455-37C>A (n.455-37C>A) c.320-37C>A (n.320-37C>A) | gnomAD v4 |
| 1 | g.229432470G= | CA1226125803 | ACTA1 | c.455-39C= (n.455-39C=) c.320-39C= (n.320-39C=) | |
| 1 | g.229432470G>T | CA1442860 | ACTA1 | c.455-39C>A (n.455-39C>A) c.320-39C>A (n.320-39C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432471G>A | CA1226125805 | ACTA1 | c.455-40C>T (n.455-40C>T) c.320-40C>T (n.320-40C>T) | dbSNP gnomAD v4 |
| 1 | g.229432471G= | CA1226125804 | ACTA1 | c.455-40C= (n.455-40C=) c.320-40C= (n.320-40C=) | |
| 1 | g.229432472C>A | CA2650926706 | ACTA1 | c.455-41G>T (n.455-41G>T) c.320-41G>T (n.320-41G>T) | gnomAD v4 |
| 1 | g.229432472C= | CA1226125806 | ACTA1 | c.455-41G= (n.455-41G=) c.320-41G= (n.320-41G=) | |
| 1 | g.229432472C>G | CA2650926707 | ACTA1 | c.455-41G>C (n.455-41G>C) c.320-41G>C (n.320-41G>C) | gnomAD v4 |
| 1 | g.229432472C>T | CA732581012 | ACTA1 | c.455-41G>A (n.455-41G>A) c.320-41G>A (n.320-41G>A) | dbSNP gnomAD v4 |
| 1 | g.229432472_229432499del | CA2650926705 | ACTA1 | c.454+57_455-41del (n.454+57_455-41del) c.319+57_320-41del (n.319+57_320-41del) | gnomAD v4 |
| 1 | g.229432473C>A | CA529915305 | ACTA1 | c.455-42G>T (n.455-42G>T) c.320-42G>T (n.320-42G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432473C= | CA1146738275 | ACTA1 | c.455-42G= (n.455-42G=) c.320-42G= (n.320-42G=) | |
| 1 | g.229432473C>G | CA1442861 | ACTA1 | c.455-42G>C (n.455-42G>C) c.320-42G>C (n.320-42G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.229432473C>T | CA732581016 | ACTA1 | c.455-42G>A (n.455-42G>A) c.320-42G>A (n.320-42G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432474G>A | CA1442862 | ACTA1 | c.455-43C>T (n.455-43C>T) c.320-43C>T (n.320-43C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432474G= | CA1226125807 | ACTA1 | c.455-43C= (n.455-43C=) c.320-43C= (n.320-43C=) | |
| 1 | g.229432475A>G | CA2650926708 | ACTA1 | c.455-44T>C (n.455-44T>C) c.320-44T>C (n.320-44T>C) | dbSNP gnomAD v4 |
| 1 | g.229432477G>T | CA2650926709 | ACTA1 | c.455-46C>A (n.455-46C>A) c.320-46C>A (n.320-46C>A) | gnomAD v4 |
| 1 | g.229432478C>A | CA2650926710 | ACTA1 | c.455-47G>T (n.455-47G>T) c.320-47G>T (n.320-47G>T) | gnomAD v4 |
| 1 | g.229432478C= | CA1226125808 | ACTA1 | c.455-47G= (n.455-47G=) c.320-47G= (n.320-47G=) | |
| 1 | g.229432478C>T | CA529915306 | ACTA1 | c.455-47G>A (n.455-47G>A) c.320-47G>A (n.320-47G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432479dup | CA732581021 | ACTA1 | c.455-48dup (n.455-48dup) c.320-48dup (n.320-48dup) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432480A= | CA1226125809 | ACTA1 | c.455-49T= (n.455-49T=) c.320-49T= (n.320-49T=) | |
| 1 | g.229432480A>C | CA2547836526 | ACTA1 | c.455-49T>G (n.455-49T>G) c.320-49T>G (n.320-49T>G) | gnomAD v4 |
| 1 | g.229432480A>G | CA732581024 | ACTA1 | c.455-49T>C (n.455-49T>C) c.320-49T>C (n.320-49T>C) | dbSNP gnomAD v4 |
| 1 | g.229432481G>T | CA2650926711 | ACTA1 | c.455-50C>A (n.455-50C>A) c.320-50C>A (n.320-50C>A) | gnomAD v4 |
| 1 | g.229432483C>A | CA1013145563 | ACTA1 | c.455-52G>T (n.455-52G>T) c.320-52G>T (n.320-52G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432483C= | CA1226125810 | ACTA1 | c.455-52G= (n.455-52G=) c.320-52G= (n.320-52G=) | |
| 1 | g.229432483C>G | CA2650926713 | ACTA1 | c.455-52G>C (n.455-52G>C) c.320-52G>C (n.320-52G>C) | gnomAD v4 |
| 1 | g.229432483C>T | CA2574151311 | ACTA1 | c.455-52G>A (n.455-52G>A) c.320-52G>A (n.320-52G>A) | gnomAD v4 |
| 1 | g.229432483_229432494del | CA2650926712 | ACTA1 | c.455-63_455-52del (n.455-63_455-52del) c.320-63_320-52del (n.320-63_320-52del) | gnomAD v4 |
| 1 | g.229432484T>A | CA2581682298 | ACTA1 | c.455-53A>T (n.455-53A>T) c.320-53A>T (n.320-53A>T) | gnomAD v4 |
| 1 | g.229432484T>C | CA2581682297 | ACTA1 | c.455-53A>G (n.455-53A>G) c.320-53A>G (n.320-53A>G) | |
| 1 | g.229432484T>G | CA38816000 | ACTA1 | c.455-53A>C (n.455-53A>C) c.320-53A>C (n.320-53A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432484T= | CA1139804865 | ACTA1 | c.455-53A= (n.455-53A=) c.320-53A= (n.320-53A=) | |
| 1 | g.229432485C= | CA1226125811 | ACTA1 | c.455-54G= (n.455-54G=) c.320-54G= (n.320-54G=) | |
| 1 | g.229432485C>T | CA1226125812 | ACTA1 | c.455-54G>A (n.455-54G>A) c.320-54G>A (n.320-54G>A) | dbSNP gnomAD v4 |
| 1 | g.229432485_229432486insAGCGCTAGGGGCGAGGCCGAGGCTAGGCGC | CA2650926714 | ACTA1 | c.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG (n.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG) c.320-54_320-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG (n.320-54_320-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG) | gnomAD v4 |
| 1 | g.229432487C>A | CA2650926715 | ACTA1 | c.455-56G>T (n.455-56G>T) c.320-56G>T (n.320-56G>T) | gnomAD v4 |
| 1 | g.229432487C= | CA1226125813 | ACTA1 | c.455-56G= (n.455-56G=) c.320-56G= (n.320-56G=) | |
| 1 | g.229432487C>T | CA1226125814 | ACTA1 | c.455-56G>A (n.455-56G>A) c.320-56G>A (n.320-56G>A) | dbSNP gnomAD v4 |
| 1 | g.229432489G>A | CA529915307 | ACTA1 | c.455-58C>T (n.455-58C>T) c.320-58C>T (n.320-58C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432489G= | CA1226125815 | ACTA1 | c.455-58C= (n.455-58C=) c.320-58C= (n.320-58C=) | |
| 1 | g.229432489G>T | CA2650926716 | ACTA1 | c.455-58C>A (n.455-58C>A) c.320-58C>A (n.320-58C>A) | gnomAD v4 |
| 1 | g.229432490C>A | CA732581034 | ACTA1 | c.455-59G>T (n.455-59G>T) c.320-59G>T (n.320-59G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432490C= | CA1145910913 | ACTA1 | c.455-59G= (n.455-59G=) c.320-59G= (n.320-59G=) | |
| 1 | g.229432490C>G | CA2650926717 | ACTA1 | c.455-59G>C (n.455-59G>C) c.320-59G>C (n.320-59G>C) | gnomAD v4 |
| 1 | g.229432490C>T | CA38816006 | ACTA1 | c.455-59G>A (n.455-59G>A) c.320-59G>A (n.320-59G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432491G>A | CA2561911971 | ACTA1 | c.455-60C>T (n.455-60C>T) c.320-60C>T (n.320-60C>T) | gnomAD v4 |
| 1 | g.229432491G>C | CA2650926718 | ACTA1 | c.455-60C>G (n.455-60C>G) c.320-60C>G (n.320-60C>G) | gnomAD v4 |
| 1 | g.229432491G= | CA1226125816 | ACTA1 | c.455-60C= (n.455-60C=) c.320-60C= (n.320-60C=) | |
| 1 | g.229432491G>T | CA1226125817 | ACTA1 | c.455-60C>A (n.455-60C>A) c.320-60C>A (n.320-60C>A) | dbSNP gnomAD v4 |
| 1 | g.229432492C>A | CA2574151312 | ACTA1 | c.455-61G>T (n.455-61G>T) c.320-61G>T (n.320-61G>T) | |
| 1 | g.229432492C>G | CA2650926719 | ACTA1 | c.455-61G>C (n.455-61G>C) c.320-61G>C (n.320-61G>C) | gnomAD v4 |
| 1 | g.229432492C>T | CA2650926720 | ACTA1 | c.455-61G>A (n.455-61G>A) c.320-61G>A (n.320-61G>A) | gnomAD v4 |
| 1 | g.229432493T>C | CA1013145574 | ACTA1 | c.455-62A>G (n.455-62A>G) c.320-62A>G (n.320-62A>G) | gnomAD v3 gnomAD v4 |
| 1 | g.229432494A= | CA1226125818 | ACTA1 | c.455-63T= (n.455-63T=) c.320-63T= (n.320-63T=) | |
| 1 | g.229432494A>C | CA1013145575 | ACTA1 | c.455-63T>G (n.455-63T>G) c.320-63T>G (n.320-63T>G) | gnomAD v3 gnomAD v4 |
| 1 | g.229432495_229432496insAGG | CA2650926721 | ACTA1 | c.454+61_455-63insCTC (n.454+61_455-63insCTC) c.319+61_320-63insCTC (n.319+61_320-63insCTC) | gnomAD v4 |
| 1 | g.229432495_229432496insAGGCGG | CA1226125819 | ACTA1 | c.454+61_455-63insCGCCTC (n.454+61_455-63insCGCCTC) c.319+61_320-63insCGCCTC (n.319+61_320-63insCGCCTC) | dbSNP |
| 1 | g.229432496_229432503del | CA2527679159 | ACTA1 | c.454+54_454+61del (n.454+54_454+61del) c.319+54_319+61del (n.319+54_319+61del) | |
| 1 | g.229432496C>A | CA2574151313 | ACTA1 | c.454+60G>T (n.454+60G>T) c.319+60G>T (n.319+60G>T) | gnomAD v4 |
| 1 | g.229432496C= | CA1226125822 | ACTA1 | c.454+60G= (n.454+60G=) c.319+60G= (n.319+60G=) | |
| 1 | g.229432496C>G | CA1226125821 | ACTA1 | c.454+60G>C (n.454+60G>C) c.319+60G>C (n.319+60G>C) | dbSNP gnomAD v4 |
| 1 | g.229432496C>T | CA2650926722 | ACTA1 | c.454+60G>A (n.454+60G>A) c.319+60G>A (n.319+60G>A) | gnomAD v4 |
| 1 | g.229432496_229432514delinsCGGCGGGGGCGGGGGCGGG | CA1226125820 | ACTA1 | c.454+42_454+60delinsCCCGCCCCCGCCCCCGCCG (n.454+42_454+60delinsCCCGCCCCCGCCCCCGCCG) c.319+42_319+60delinsCCCGCCCCCGCCCCCGCCG (n.319+42_319+60delinsCCCGCCCCCGCCCCCGCCG) | |
| 1 | g.229432497G>A | CA2650926724 | ACTA1 | c.454+59C>T (n.454+59C>T) c.319+59C>T (n.319+59C>T) | gnomAD v4 |
| 1 | g.229432497G= | CA1226125823 | ACTA1 | c.454+59C= (n.454+59C=) c.319+59C= (n.319+59C=) | |
| 1 | g.229432497G>T | CA1226125824 | ACTA1 | c.454+59C>A (n.454+59C>A) c.319+59C>A (n.319+59C>A) | dbSNP gnomAD v4 |
| 1 | g.229432498_229432499insGGG | CA2650926727 | ACTA1 | c.454+59_454+60insCCC (n.454+59_454+60insCCC) c.319+59_319+60insCCC (n.319+59_319+60insCCC) | gnomAD v4 |
| 1 | g.229432498_229432499insAGGGGG | CA732581046 | ACTA1 | c.454+59_454+60insCCCTCC (n.454+59_454+60insCCCTCC) c.319+59_319+60insCCCTCC (n.319+59_319+60insCCCTCC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432498_229432499insGGGGGG | CA2650926723 | ACTA1 | c.454+59_454+60insCCCCCC (n.454+59_454+60insCCCCCC) c.319+59_319+60insCCCCCC (n.319+59_319+60insCCCCCC) | gnomAD v4 |
| 1 | g.229432498_229432499insGGGGGGGG | CA2650926726 | ACTA1 | c.454+59_454+60insCCCCCCCC (n.454+59_454+60insCCCCCCCC) c.319+59_319+60insCCCCCCCC (n.319+59_319+60insCCCCCCCC) | gnomAD v4 |
| 1 | g.229432497_229432498dup | CA2650926729 | ACTA1 | c.454+58_454+59dup (n.454+58_454+59dup) c.319+58_319+59dup (n.319+58_319+59dup) | gnomAD v4 |
| 1 | g.229432521_229432526dup | CA423755156 | ACTA1 | c.454+54_454+59dup (n.454+54_454+59dup) c.319+54_319+59dup (n.319+54_319+59dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432515_229432526dup | CA529915310 | ACTA1 | c.454+48_454+59dup (n.454+48_454+59dup) c.319+48_319+59dup (n.319+48_319+59dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432509_229432526dup | CA2650926728 | ACTA1 | c.454+42_454+59dup (n.454+42_454+59dup) c.319+42_319+59dup (n.319+42_319+59dup) | gnomAD v4 |
| 1 | g.229432521_229432526del | CA529915309 | ACTA1 | c.454+54_454+59del (n.454+54_454+59del) c.319+54_319+59del (n.319+54_319+59del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432515_229432526del | CA529915308 | ACTA1 | c.454+48_454+59del (n.454+48_454+59del) c.319+48_319+59del (n.319+48_319+59del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432509_229432526del | CA916422669 | ACTA1 | c.454+42_454+59del (n.454+42_454+59del) c.319+42_319+59del (n.319+42_319+59del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432503_229432526del | CA2650926725 | ACTA1 | c.454+36_454+59del (n.454+36_454+59del) c.319+36_319+59del (n.319+36_319+59del) | gnomAD v4 |
| 1 | g.229432498G>A | CA2650926730 | ACTA1 | c.454+58C>T (n.454+58C>T) c.319+58C>T (n.319+58C>T) | gnomAD v4 |
| 1 | g.229432498G>T | CA2650926731 | ACTA1 | c.454+58C>A (n.454+58C>A) c.319+58C>A (n.319+58C>A) | gnomAD v4 |
| 1 | g.229432502_229432503insTGCGGG | CA1226125825 | ACTA1 | c.454+58_454+59insACCCGC (n.454+58_454+59insACCCGC) c.319+58_319+59insACCCGC (n.319+58_319+59insACCCGC) | dbSNP |
| 1 | g.229432499C>A | CA732581051 | ACTA1 | c.454+57G>T (n.454+57G>T) c.319+57G>T (n.319+57G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432499C= | CA1226125826 | ACTA1 | c.454+57G= (n.454+57G=) c.319+57G= (n.319+57G=) | |
| 1 | g.229432499C>G | CA732581048 | ACTA1 | c.454+57G>C (n.454+57G>C) c.319+57G>C (n.319+57G>C) | dbSNP gnomAD v4 |
| 1 | g.229432499C>T | CA1013145583 | ACTA1 | c.454+57G>A (n.454+57G>A) c.319+57G>A (n.319+57G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432500G>T | CA2574151315 | ACTA1 | c.454+56C>A (n.454+56C>A) c.319+56C>A (n.319+56C>A) | |
| 1 | g.229432504_229432505insAGGGGG | CA2650926741 | ACTA1 | c.454+56_454+57insTCCCCC (n.454+56_454+57insTCCCCC) c.319+56_319+57insTCCCCC (n.319+56_319+57insTCCCCC) | gnomAD v4 |
| 1 | g.229432504_229432505insGGGGGG | CA2574151314 | ACTA1 | c.454+56_454+57insCCCCCC (n.454+56_454+57insCCCCCC) c.319+56_319+57insCCCCCC (n.319+56_319+57insCCCCCC) | gnomAD v4 |
| 1 | g.229432504_229432505insGGGGGGG | CA2650926744 | ACTA1 | c.454+56_454+57insCCCCCCC (n.454+56_454+57insCCCCCCC) c.319+56_319+57insCCCCCCC (n.319+56_319+57insCCCCCCC) | gnomAD v4 |
| 1 | g.229432504_229432505insGGGGGGGG | CA2650926742 | ACTA1 | c.454+56_454+57insCCCCCCCC (n.454+56_454+57insCCCCCCCC) c.319+56_319+57insCCCCCCCC (n.319+56_319+57insCCCCCCCC) | gnomAD v4 |
| 1 | g.229432504_229432505insGGGGGGGGG | CA2650926743 | ACTA1 | c.454+56_454+57insCCCCCCCCC (n.454+56_454+57insCCCCCCCCC) c.319+56_319+57insCCCCCCCCC (n.319+56_319+57insCCCCCCCCC) | gnomAD v4 |
| 1 | g.229432504_229432505insGGGGGGGGGG | CA2650926739 | ACTA1 | c.454+56_454+57insCCCCCCCCCC (n.454+56_454+57insCCCCCCCCCC) c.319+56_319+57insCCCCCCCCCC (n.319+56_319+57insCCCCCCCCCC) | gnomAD v4 |
| 1 | g.229432504_229432505insGGGGGGGGGGGG | CA2650926740 | ACTA1 | c.454+56_454+57insCCCCCCCCCCCC (n.454+56_454+57insCCCCCCCCCCCC) c.319+56_319+57insCCCCCCCCCCCC (n.319+56_319+57insCCCCCCCCCCCC) | gnomAD v4 |
| 1 | g.229432504_229432505insGGGGGGGGGGGGG | CA2650926738 | ACTA1 | c.454+56_454+57insCCCCCCCCCCCCC (n.454+56_454+57insCCCCCCCCCCCCC) c.319+56_319+57insCCCCCCCCCCCCC (n.319+56_319+57insCCCCCCCCCCCCC) | gnomAD v4 |
| 1 | g.229432504_229432505insGGGGGGGGGGGGGG | CA2650926737 | ACTA1 | c.454+56_454+57insCCCCCCCCCCCCCC (n.454+56_454+57insCCCCCCCCCCCCCC) c.319+56_319+57insCCCCCCCCCCCCCC (n.319+56_319+57insCCCCCCCCCCCCCC) | gnomAD v4 |
| 1 | g.229432504_229432505insGGGGGGGGGGGGGGG | CA2650926736 | ACTA1 | c.454+56_454+57insCCCCCCCCCCCCCCC (n.454+56_454+57insCCCCCCCCCCCCCCC) c.319+56_319+57insCCCCCCCCCCCCCCC (n.319+56_319+57insCCCCCCCCCCCCCCC) | gnomAD v4 |
| 1 | g.229432504dup | CA2650926735 | ACTA1 | c.454+56dup (n.454+56dup) c.319+56dup (n.319+56dup) | gnomAD v4 |
| 1 | g.229432503_229432504dup | CA913399624 | ACTA1 | c.454+55_454+56dup (n.454+55_454+56dup) c.319+55_319+56dup (n.319+55_319+56dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432500_229432504dup | CA2650926732 | ACTA1 | c.454+52_454+56dup (n.454+52_454+56dup) c.319+52_319+56dup (n.319+52_319+56dup) | gnomAD v4 |
| 1 | g.229432504del | CA2650926734 | ACTA1 | c.454+56del (n.454+56del) c.319+56del (n.319+56del) | gnomAD v4 |
| 1 | g.229432504_229432533del | CA2650926733 | ACTA1 | c.454+27_454+56del (n.454+27_454+56del) c.319+27_319+56del (n.319+27_319+56del) | gnomAD v4 |
| 1 | g.229432501G>A | CA2650926746 | ACTA1 | c.454+55C>T (n.454+55C>T) c.319+55C>T (n.319+55C>T) | gnomAD v4 |
| 1 | g.229432501G= | CA1226125827 | ACTA1 | c.454+55C= (n.454+55C=) c.319+55C= (n.319+55C=) | |
| 1 | g.229432501G>T | CA1226125828 | ACTA1 | c.454+55C>A (n.454+55C>A) c.319+55C>A (n.319+55C>A) | dbSNP |
| 1 | g.229432505_229432506insTGGGGC | CA2650926745 | ACTA1 | c.454+55_454+56insAGCCCC (n.454+55_454+56insAGCCCC) c.319+55_319+56insAGCCCC (n.319+55_319+56insAGCCCC) | gnomAD v4 |
| 1 | g.229432502G>A | CA2650926747 | ACTA1 | c.454+54C>T (n.454+54C>T) c.319+54C>T (n.319+54C>T) | gnomAD v4 |
| 1 | g.229432503G>A | CA1013145588 | ACTA1 | c.454+53C>T (n.454+53C>T) c.319+53C>T (n.319+53C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432503G= | CA1226125829 | ACTA1 | c.454+53C= (n.454+53C=) c.319+53C= (n.319+53C=) |