OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432570_229432575dup | CA2586968416 | ACTA1 | c.437_442dup (p.Ser147_Gly148insAlaSer) c.302_307dup (p.Ser102_Gly103insAlaSer) | |
| 1 | g.229432575G>A | CA1442882 | ACTA1 | c.435C>T (p.Tyr145=) c.300C>T (p.Tyr100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.229432575G>C | CA345149170 | ACTA1 | c.435C>G (p.Tyr145Ter) c.300C>G (p.Tyr100Ter) | gnomAD v4 |
| 1 | g.229432575G= | CA1143794504 | ACTA1 | c.435C= (p.Tyr145=) c.300C= (p.Tyr100=) | |
| 1 | g.229432575G>T | CA1442883 | ACTA1 | c.435C>A (p.Tyr145Ter) c.300C>A (p.Tyr100Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432576T>A | CA345149174 | ACTA1 | c.434A>T (p.Tyr145Phe) c.299A>T (p.Tyr100Phe) | ClinVar |
| 1 | g.229432576T>C | CA345149176 | ACTA1 | c.434A>G (p.Tyr145Cys) c.299A>G (p.Tyr100Cys) | |
| 1 | g.229432576T>G | CA345149178 | ACTA1 | c.434A>C (p.Tyr145Ser) c.299A>C (p.Tyr100Ser) | |
| 1 | g.229432576_229432577delinsTA | CA1226125883 | ACTA1 | c.433_434delinsTA (p.Tyr145=) c.298_299delinsTA (p.Tyr100=) | |
| 1 | g.229432577del | CA1226125884 | ACTA1 | c.433del (p.Tyr145ThrfsTer?) c.298del (p.Tyr100ThrfsTer?) c.433del (p.Tyr145ThrfsTer18) | dbSNP |
| 1 | g.229432577A>C | CA345149180 | ACTA1 | c.433T>G (p.Tyr145Asp) c.298T>G (p.Tyr100Asp) | |
| 1 | g.229432577A>G | CA345149182 | ACTA1 | c.433T>C (p.Tyr145His) c.298T>C (p.Tyr100His) | |
| 1 | g.229432577A>T | CA345149183 | ACTA1 | c.433T>A (p.Tyr145Asn) c.298T>A (p.Tyr100Asn) | |
| 1 | g.229432578G>A | CA423755055 | ACTA1 | c.432C>T (p.Leu144=) c.297C>T (p.Leu99=) | dbSNP |
| 1 | g.229432578G>C | CA423755056 | ACTA1 | c.432C>G (p.Leu144=) c.297C>G (p.Leu99=) | |
| 1 | g.229432578G>T | CA423755057 | ACTA1 | c.432C>A (p.Leu144=) c.297C>A (p.Leu99=) | |
| 1 | g.229432579A>C | CA345149185 | ACTA1 | c.431T>G (p.Leu144Arg) c.296T>G (p.Leu99Arg) | |
| 1 | g.229432579A>G | CA345149186 | ACTA1 | c.431T>C (p.Leu144Pro) c.296T>C (p.Leu99Pro) | ClinVar |
| 1 | g.229432579A>T | CA345149188 | ACTA1 | c.431T>A (p.Leu144His) c.296T>A (p.Leu99His) | gnomAD v4 |
| 1 | g.229432580G>A | CA10588284 | ACTA1 | c.430C>T (p.Leu144Phe) c.295C>T (p.Leu99Phe) | ClinVar dbSNP |
| 1 | g.229432580G>C | CA345149190 | ACTA1 | c.430C>G (p.Leu144Val) c.295C>G (p.Leu99Val) | |
| 1 | g.229432580G= | CA1226125885 | ACTA1 | c.430C= (p.Leu144=) c.295C= (p.Leu99=) | |
| 1 | g.229432580G>T | CA345149192 | ACTA1 | c.430C>A (p.Leu144Ile) c.295C>A (p.Leu99Ile) | |
| 1 | g.229432581G>A | CA423755062 | ACTA1 | c.429C>T (p.Ser143=) c.294C>T (p.Ser98=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.229432581G>C | CA423755063 | ACTA1 | c.429C>G (p.Ser143=) c.294C>G (p.Ser98=) | COSMIC |
| 1 | g.229432581G= | CA1226125886 | ACTA1 | c.429C= (p.Ser143=) c.294C= (p.Ser98=) | |
| 1 | g.229432581G>T | CA423755064 | ACTA1 | c.429C>A (p.Ser143=) c.294C>A (p.Ser98=) | |
| 1 | g.229432582G>A | CA1442884 | ACTA1 | c.428C>T (p.Ser143Phe) c.293C>T (p.Ser98Phe) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.229432582G>C | CA38816219 | ACTA1 | c.428C>G (p.Ser143Cys) c.293C>G (p.Ser98Cys) | dbSNP |
| 1 | g.229432582G= | CA1140967570 | ACTA1 | c.428C= (p.Ser143=) c.293C= (p.Ser98=) | |
| 1 | g.229432582G>T | CA345149199 | ACTA1 | c.428C>A (p.Ser143Tyr) c.293C>A (p.Ser98Tyr) | |
| 1 | g.229432583A= | CA1226125887 | ACTA1 | c.427T= (p.Ser143=) c.292T= (p.Ser98=) | |
| 1 | g.229432583A>C | CA345149202 | ACTA1 | c.427T>G (p.Ser143Ala) c.292T>G (p.Ser98Ala) | |
| 1 | g.229432583A>G | CA345149203 | ACTA1 | c.427T>C (p.Ser143Pro) c.292T>C (p.Ser98Pro) | ClinVar dbSNP |
| 1 | g.229432583A>T | CA345149204 | ACTA1 | c.427T>A (p.Ser143Thr) c.292T>A (p.Ser98Thr) | |
| 1 | g.229432584C>A | CA423755066 | ACTA1 | c.426G>T (p.Leu142=) c.291G>T (p.Leu97=) | |
| 1 | g.229432584C>G | CA423755067 | ACTA1 | c.426G>C (p.Leu142=) c.291G>C (p.Leu97=) | |
| 1 | g.229432584C>T | CA423755068 | ACTA1 | c.426G>A (p.Leu142=) c.291G>A (p.Leu97=) | gnomAD v4 |
| 1 | g.229432585A= | CA1226125888 | ACTA1 | c.425T= (p.Leu142=) c.290T= (p.Leu97=) | |
| 1 | g.229432585A>C | CA345149205 | ACTA1 | c.425T>G (p.Leu142Arg) c.290T>G (p.Leu97Arg) | ClinVar dbSNP |
| 1 | g.229432585A>G | CA345149206 | ACTA1 | c.425T>C (p.Leu142Pro) c.290T>C (p.Leu97Pro) | ClinVar dbSNP |
| 1 | g.229432585A>T | CA345149208 | ACTA1 | c.425T>A (p.Leu142Gln) c.290T>A (p.Leu97Gln) | |
| 1 | g.229432586G>A | CA423755071 | ACTA1 | c.424C>T (p.Leu142=) c.289C>T (p.Leu97=) | |
| 1 | g.229432586G>C | CA345149211 | ACTA1 | c.424C>G (p.Leu142Val) c.289C>G (p.Leu97Val) | |
| 1 | g.229432586G>T | CA345149214 | ACTA1 | c.424C>A (p.Leu142Met) c.289C>A (p.Leu97Met) | |
| 1 | g.229432587C>A | CA423755072 | ACTA1 | c.423G>T (p.Val141=) c.288G>T (p.Val96=) | dbSNP |
| 1 | g.229432587C= | CA1146199362 | ACTA1 | c.423G= (p.Val141=) c.288G= (p.Val96=) | |
| 1 | g.229432587C>G | CA423755073 | ACTA1 | c.423G>C (p.Val141=) c.288G>C (p.Val96=) | |
| 1 | g.229432587C>T | CA1442885 | ACTA1 | c.423G>A (p.Val141=) c.288G>A (p.Val96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432588A>C | CA345149222 | ACTA1 | c.422T>G (p.Val141Gly) c.287T>G (p.Val96Gly) | |
| 1 | g.229432588A>G | CA345149229 | ACTA1 | c.422T>C (p.Val141Ala) c.287T>C (p.Val96Ala) | |
| 1 | g.229432588A>T | CA345149220 | ACTA1 | c.422T>A (p.Val141Glu) c.287T>A (p.Val96Glu) | |
| 1 | g.229432589C>A | CA345149236 | ACTA1 | c.421G>T (p.Val141Leu) c.286G>T (p.Val96Leu) | |
| 1 | g.229432589C>G | CA345149232 | ACTA1 | c.421G>C (p.Val141Leu) c.286G>C (p.Val96Leu) | |
| 1 | g.229432589C>T | CA345149234 | ACTA1 | c.421G>A (p.Val141Met) c.286G>A (p.Val96Met) | gnomAD v4 |
| 1 | g.229432590G>A | CA423755074 | ACTA1 | c.420C>T (p.Ala140=) c.285C>T (p.Ala95=) | |
| 1 | g.229432590G>C | CA423755076 | ACTA1 | c.420C>G (p.Ala140=) c.285C>G (p.Ala95=) | |
| 1 | g.229432590G= | CA1226125889 | ACTA1 | c.420C= (p.Ala140=) c.285C= (p.Ala95=) | |
| 1 | g.229432590G>T | CA1442886 | ACTA1 | c.420C>A (p.Ala140=) c.285C>A (p.Ala95=) | dbSNP ExAC gnomAD v4 |
| 1 | g.229432591G>A | CA345149241 | ACTA1 | c.419C>T (p.Ala140Val) c.284C>T (p.Ala95Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432591G>C | CA345149244 | ACTA1 | c.419C>G (p.Ala140Gly) c.284C>G (p.Ala95Gly) | ClinVar dbSNP |
| 1 | g.229432591G= | CA1226125890 | ACTA1 | c.419C= (p.Ala140=) c.284C= (p.Ala95=) | |
| 1 | g.229432591G>T | CA345149246 | ACTA1 | c.419C>A (p.Ala140Asp) c.284C>A (p.Ala95Asp) | ClinVar dbSNP |
| 1 | g.229432592C>A | CA345149254 | ACTA1 | c.418G>T (p.Ala140Ser) c.283G>T (p.Ala95Ser) | |
| 1 | g.229432592C>G | CA345149248 | ACTA1 | c.418G>C (p.Ala140Pro) c.283G>C (p.Ala95Pro) | |
| 1 | g.229432592C>T | CA345149250 | ACTA1 | c.418G>A (p.Ala140Thr) c.283G>A (p.Ala95Thr) | |
| 1 | g.229432593C>A | CA345149256 | ACTA1 | c.417G>T (p.Gln139His) c.282G>T (p.Gln94His) | |
| 1 | g.229432593C>G | CA345149259 | ACTA1 | c.417G>C (p.Gln139His) c.282G>C (p.Gln94His) | |
| 1 | g.229432593C>T | CA423755080 | ACTA1 | c.417G>A (p.Gln139=) c.282G>A (p.Gln94=) | |
| 1 | g.229432594T>A | CA345149261 | ACTA1 | c.416A>T (p.Gln139Leu) c.281A>T (p.Gln94Leu) | |
| 1 | g.229432594T>C | CA345149263 | ACTA1 | c.416A>G (p.Gln139Arg) c.281A>G (p.Gln94Arg) | |
| 1 | g.229432594T>G | CA345149265 | ACTA1 | c.416A>C (p.Gln139Pro) c.281A>C (p.Gln94Pro) | |
| 1 | g.229432595G>A | CA345149270 | ACTA1 | c.415C>T (p.Gln139Ter) c.280C>T (p.Gln94Ter) | |
| 1 | g.229432595G>C | CA345149273 | ACTA1 | c.415C>G (p.Gln139Glu) c.280C>G (p.Gln94Glu) | |
| 1 | g.229432595G>T | CA345149271 | ACTA1 | c.415C>A (p.Gln139Lys) c.280C>A (p.Gln94Lys) | |
| 1 | g.229432596G>A | CA423755082 | ACTA1 | c.414C>T (p.Ile138=) c.279C>T (p.Ile93=) | gnomAD v4 COSMIC |
| 1 | g.229432596G>C | CA258142 | ACTA1 | c.414C>G (p.Ile138Met) c.279C>G (p.Ile93Met) | ClinVar dbSNP |
| 1 | g.229432596G= | CA1141581378 | ACTA1 | c.414C= (p.Ile138=) c.279C= (p.Ile93=) | |
| 1 | g.229432596G>T | CA423755084 | ACTA1 | c.414C>A (p.Ile138=) c.279C>A (p.Ile93=) | COSMIC |
| 1 | g.229432597A= | CA1148225034 | ACTA1 | c.413T= (p.Ile138=) c.278T= (p.Ile93=) | |
| 1 | g.229432597A>C | CA345149277 | ACTA1 | c.413T>G (p.Ile138Ser) c.278T>G (p.Ile93Ser) | |
| 1 | g.229432597A>G | CA345149278 | ACTA1 | c.413T>C (p.Ile138Thr) c.278T>C (p.Ile93Thr) | |
| 1 | g.229432597A>T | CA151568 | ACTA1 | c.413T>A (p.Ile138Asn) c.278T>A (p.Ile93Asn) | ClinVar dbSNP |
| 1 | g.229432598T>A | CA345149281 | ACTA1 | c.412A>T (p.Ile138Phe) c.277A>T (p.Ile93Phe) | |
| 1 | g.229432598T>C | CA345149282 | ACTA1 | c.412A>G (p.Ile138Val) c.277A>G (p.Ile93Val) | |
| 1 | g.229432598T>G | CA345149283 | ACTA1 | c.412A>C (p.Ile138Leu) c.277A>C (p.Ile93Leu) | |
| 1 | g.229432599G>A | CA423755086 | ACTA1 | c.411C>T (p.Ala137=) c.276C>T (p.Ala92=) | |
| 1 | g.229432599G>C | CA423755087 | ACTA1 | c.411C>G (p.Ala137=) c.276C>G (p.Ala92=) | |
| 1 | g.229432599G>T | CA423755088 | ACTA1 | c.411C>A (p.Ala137=) c.276C>A (p.Ala92=) | |
| 1 | g.229432600G>A | CA345149291 | ACTA1 | c.410C>T (p.Ala137Val) c.275C>T (p.Ala92Val) | |
| 1 | g.229432600G>C | CA345149292 | ACTA1 | c.410C>G (p.Ala137Gly) c.275C>G (p.Ala92Gly) | |
| 1 | g.229432600G>T | CA345149295 | ACTA1 | c.410C>A (p.Ala137Asp) c.275C>A (p.Ala92Asp) | ClinVar |
| 1 | g.229432601C>A | CA345149303 | ACTA1 | c.409G>T (p.Ala137Ser) c.274G>T (p.Ala92Ser) | |
| 1 | g.229432601C>G | CA345149300 | ACTA1 | c.409G>C (p.Ala137Pro) c.274G>C (p.Ala92Pro) | |
| 1 | g.229432601C>T | CA345149299 | ACTA1 | c.409G>A (p.Ala137Thr) c.274G>A (p.Ala92Thr) | gnomAD v4 |
| 1 | g.229432602C>A | CA423755090 | ACTA1 | c.408G>T (p.Val136=) c.273G>T (p.Val91=) | |
| 1 | g.229432602C= | CA1226125891 | ACTA1 | c.408G= (p.Val136=) c.273G= (p.Val91=) | |
| 1 | g.229432602C>G | CA423755091 | ACTA1 | c.408G>C (p.Val136=) c.273G>C (p.Val91=) | |
| 1 | g.229432602C>T | CA423755092 | ACTA1 | c.408G>A (p.Val136=) c.273G>A (p.Val91=) | dbSNP COSMIC |
| 1 | g.229432603A>C | CA345149307 | ACTA1 | c.407T>G (p.Val136Gly) c.272T>G (p.Val91Gly) | |
| 1 | g.229432603A>G | CA345149309 | ACTA1 | c.407T>C (p.Val136Ala) c.272T>C (p.Val91Ala) | ClinVar |
| 1 | g.229432603A>T | CA345149311 | ACTA1 | c.407T>A (p.Val136Glu) c.272T>A (p.Val91Glu) | |
| 1 | g.229432604C>A | CA345149314 | ACTA1 | c.406G>T (p.Val136Leu) c.271G>T (p.Val91Leu) | gnomAD v4 |
| 1 | g.229432604C>G | CA345149316 | ACTA1 | c.406G>C (p.Val136Leu) c.271G>C (p.Val91Leu) | |
| 1 | g.229432604C>T | CA345149318 | ACTA1 | c.406G>A (p.Val136Met) c.271G>A (p.Val91Met) | gnomAD v4 COSMIC |
| 1 | g.229432605G>A | CA38816275 | ACTA1 | c.405C>T (p.Tyr135=) c.270C>T (p.Tyr90=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432605G>C | CA345149323 | ACTA1 | c.405C>G (p.Tyr135Ter) c.270C>G (p.Tyr90Ter) | |
| 1 | g.229432605G= | CA1226125892 | ACTA1 | c.405C= (p.Tyr135=) c.270C= (p.Tyr90=) | |
| 1 | g.229432605G>T | CA345149321 | ACTA1 | c.405C>A (p.Tyr135Ter) c.270C>A (p.Tyr90Ter) | |
| 1 | g.229432606T>A | CA345149328 | ACTA1 | c.404A>T (p.Tyr135Phe) c.269A>T (p.Tyr90Phe) | |
| 1 | g.229432606T>C | CA345149330 | ACTA1 | c.404A>G (p.Tyr135Cys) c.269A>G (p.Tyr90Cys) | |
| 1 | g.229432606T>G | CA345149336 | ACTA1 | c.404A>C (p.Tyr135Ser) c.269A>C (p.Tyr90Ser) | |
| 1 | g.229432607A>C | CA345149341 | ACTA1 | c.403T>G (p.Tyr135Asp) c.268T>G (p.Tyr90Asp) | |
| 1 | g.229432607A>G | CA345149343 | ACTA1 | c.403T>C (p.Tyr135His) c.268T>C (p.Tyr90His) | |
| 1 | g.229432607A>T | CA345149347 | ACTA1 | c.403T>A (p.Tyr135Asn) c.268T>A (p.Tyr90Asn) | |
| 1 | g.229432608C>A | CA345149349 | ACTA1 | c.402G>T (p.Met134Ile) c.267G>T (p.Met89Ile) | ClinVar dbSNP |
| 1 | g.229432608C= | CA1226125893 | ACTA1 | c.402G= (p.Met134=) c.267G= (p.Met89=) | |
| 1 | g.229432608C>G | CA345149356 | ACTA1 | c.402G>C (p.Met134Ile) c.267G>C (p.Met89Ile) | |
| 1 | g.229432608C>T | CA345149353 | ACTA1 | c.402G>A (p.Met134Ile) c.267G>A (p.Met89Ile) | ClinVar dbSNP |
| 1 | g.229432609A= | CA1226125894 | ACTA1 | c.401T= (p.Met134=) c.266T= (p.Met89=) | |
| 1 | g.229432609A>C | CA1442887 | ACTA1 | c.401T>G (p.Met134Arg) c.266T>G (p.Met89Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432609A>G | CA345149366 | ACTA1 | c.401T>C (p.Met134Thr) c.266T>C (p.Met89Thr) | COSMIC |
| 1 | g.229432609A>T | CA345149372 | ACTA1 | c.401T>A (p.Met134Lys) c.266T>A (p.Met89Lys) | |
| 1 | g.229432610del | CA2573132023 | ACTA1 | c.400del (p.Met134CysfsTer?) c.265del (p.Met89CysfsTer?) c.400del (p.Met134CysfsTer29) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432610T>A | CA345149375 | ACTA1 | c.400A>T (p.Met134Leu) c.265A>T (p.Met89Leu) | |
| 1 | g.229432610T>C | CA345149376 | ACTA1 | c.400A>G (p.Met134Val) c.265A>G (p.Met89Val) | ClinVar dbSNP |
| 1 | g.229432610T>G | CA345149381 | ACTA1 | c.400A>C (p.Met134Leu) c.265A>C (p.Met89Leu) | |
| 1 | g.229432610T= | CA1226125895 | ACTA1 | c.400A= (p.Met134=) c.265A= (p.Met89=) | |
| 1 | g.229432611G>A | CA423755105 | ACTA1 | c.399C>T (p.Ala133=) c.264C>T (p.Ala88=) | dbSNP |
| 1 | g.229432611G>C | CA423755106 | ACTA1 | c.399C>G (p.Ala133=) c.264C>G (p.Ala88=) | |
| 1 | g.229432611G= | CA1226125896 | ACTA1 | c.399C= (p.Ala133=) c.264C= (p.Ala88=) | |
| 1 | g.229432611G>T | CA423755107 | ACTA1 | c.399C>A (p.Ala133=) c.264C>A (p.Ala88=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432612G>A | CA345149385 | ACTA1 | c.398C>T (p.Ala133Val) c.263C>T (p.Ala88Val) | |
| 1 | g.229432612G>C | CA345149387 | ACTA1 | c.398C>G (p.Ala133Gly) c.263C>G (p.Ala88Gly) | |
| 1 | g.229432612G>T | CA345149390 | ACTA1 | c.398C>A (p.Ala133Asp) c.263C>A (p.Ala88Asp) | |
| 1 | g.229432613C>A | CA345149393 | ACTA1 | c.397G>T (p.Ala133Ser) c.262G>T (p.Ala88Ser) | gnomAD v4 |
| 1 | g.229432613C>G | CA345149394 | ACTA1 | c.397G>C (p.Ala133Pro) c.262G>C (p.Ala88Pro) | |
| 1 | g.229432613C>T | CA345149397 | ACTA1 | c.397G>A (p.Ala133Thr) c.262G>A (p.Ala88Thr) | gnomAD v4 |
| 1 | g.229432614G>A | CA1442888 | ACTA1 | c.396C>T (p.Pro132=) c.261C>T (p.Pro87=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432614G>C | CA38816294 | ACTA1 | c.396C>G (p.Pro132=) c.261C>G (p.Pro87=) | dbSNP gnomAD v4 |
| 1 | g.229432614G= | CA1149122227 | ACTA1 | c.396C= (p.Pro132=) c.261C= (p.Pro87=) | |
| 1 | g.229432614G>T | CA423755110 | ACTA1 | c.396C>A (p.Pro132=) c.261C>A (p.Pro87=) | gnomAD v4 |
| 1 | g.229432615G>A | CA345149403 | ACTA1 | c.395C>T (p.Pro132Leu) c.260C>T (p.Pro87Leu) | |
| 1 | g.229432615G>C | CA345149407 | ACTA1 | c.395C>G (p.Pro132Arg) c.260C>G (p.Pro87Arg) | gnomAD v4 |
| 1 | g.229432615G>T | CA345149405 | ACTA1 | c.395C>A (p.Pro132His) c.260C>A (p.Pro87His) | |
| 1 | g.229432616G>A | CA345149410 | ACTA1 | c.394C>T (p.Pro132Ser) c.259C>T (p.Pro87Ser) | dbSNP gnomAD v2 |
| 1 | g.229432616G>C | CA345149413 | ACTA1 | c.394C>G (p.Pro132Ala) c.259C>G (p.Pro87Ala) | |
| 1 | g.229432616G= | CA1226125897 | ACTA1 | c.394C= (p.Pro132=) c.259C= (p.Pro87=) | |
| 1 | g.229432616G>T | CA345149416 | ACTA1 | c.394C>A (p.Pro132Thr) c.259C>A (p.Pro87Thr) | |
| 1 | g.229432617del | CA2586968417 | ACTA1 | c.393del (p.Ala133ProfsTer?) c.258del (p.Ala88ProfsTer?) | |
| 1 | g.229432617C>A | CA38816316 | ACTA1 | c.393G>T (p.Val131=) c.258G>T (p.Val86=) | dbSNP |
| 1 | g.229432617C= | CA1226125898 | ACTA1 | c.393G= (p.Val131=) c.258G= (p.Val86=) | |
| 1 | g.229432617C>G | CA423755111 | ACTA1 | c.393G>C (p.Val131=) c.258G>C (p.Val86=) | |
| 1 | g.229432617C>T | CA423755113 | ACTA1 | c.393G>A (p.Val131=) c.258G>A (p.Val86=) | |
| 1 | g.229432618A>C | CA345149422 | ACTA1 | c.392T>G (p.Val131Gly) c.257T>G (p.Val86Gly) | |
| 1 | g.229432618A>G | CA345149425 | ACTA1 | c.392T>C (p.Val131Ala) c.257T>C (p.Val86Ala) | gnomAD v4 |
| 1 | g.229432618A>T | CA345149428 | ACTA1 | c.392T>A (p.Val131Glu) c.257T>A (p.Val86Glu) | |
| 1 | g.229432619C>A | CA345149432 | ACTA1 | c.391G>T (p.Val131Leu) c.256G>T (p.Val86Leu) | |
| 1 | g.229432619C= | CA1226125899 | ACTA1 | c.391G= (p.Val131=) c.256G= (p.Val86=) | |
| 1 | g.229432619C>G | CA345149434 | ACTA1 | c.391G>C (p.Val131Leu) c.256G>C (p.Val86Leu) | |
| 1 | g.229432619C>T | CA345149435 | ACTA1 | c.391G>A (p.Val131Met) c.256G>A (p.Val86Met) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432620G>A | CA423755119 | ACTA1 | c.390C>T (p.Asn130=) c.255C>T (p.Asn85=) | ClinVar dbSNP |
| 1 | g.229432620G>C | CA345149436 | ACTA1 | c.390C>G (p.Asn130Lys) c.255C>G (p.Asn85Lys) | |
| 1 | g.229432620G= | CA1226125900 | ACTA1 | c.390C= (p.Asn130=) c.255C= (p.Asn85=) | |
| 1 | g.229432620G>T | CA345149437 | ACTA1 | c.390C>A (p.Asn130Lys) c.255C>A (p.Asn85Lys) | |
| 1 | g.229432621T>A | CA345149439 | ACTA1 | c.389A>T (p.Asn130Ile) c.254A>T (p.Asn85Ile) | |
| 1 | g.229432621T>C | CA1442889 | ACTA1 | c.389A>G (p.Asn130Ser) c.254A>G (p.Asn85Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432621T>G | CA345149438 | ACTA1 | c.389A>C (p.Asn130Thr) c.254A>C (p.Asn85Thr) | |
| 1 | g.229432621T= | CA1226125901 | ACTA1 | c.389A= (p.Asn130=) c.254A= (p.Asn85=) | |
| 1 | g.229432622T>A | CA345149440 | ACTA1 | c.388A>T (p.Asn130Tyr) c.253A>T (p.Asn85Tyr) | |
| 1 | g.229432622T>C | CA345149442 | ACTA1 | c.388A>G (p.Asn130Asp) c.253A>G (p.Asn85Asp) | |
| 1 | g.229432622T>G | CA345149443 | ACTA1 | c.388A>C (p.Asn130His) c.253A>C (p.Asn85His) | |
| 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) |