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.229432692C>A | CA423755214 | ACTA1 | c.318G>T (p.Leu106=) c.183G>T (p.Leu61=) | |
| 1 | g.229432692C>G | CA423755216 | ACTA1 | c.318G>C (p.Leu106=) c.183G>C (p.Leu61=) | gnomAD v4 |
| 1 | g.229432692C>T | CA423755215 | ACTA1 | c.318G>A (p.Leu106=) c.183G>A (p.Leu61=) | gnomAD v4 |
| 1 | g.229432693A>C | CA345149903 | ACTA1 | c.317T>G (p.Leu106Arg) c.182T>G (p.Leu61Arg) | |
| 1 | g.229432693A>G | CA345149905 | ACTA1 | c.317T>C (p.Leu106Pro) c.182T>C (p.Leu61Pro) | ClinVar |
| 1 | g.229432693A>T | CA345149908 | ACTA1 | c.317T>A (p.Leu106Gln) c.182T>A (p.Leu61Gln) | |
| 1 | g.229432694G>A | CA423755217 | ACTA1 | c.316C>T (p.Leu106=) c.181C>T (p.Leu61=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432694G>C | CA345149912 | ACTA1 | c.316C>G (p.Leu106Val) c.181C>G (p.Leu61Val) | |
| 1 | g.229432694G= | CA1226125926 | ACTA1 | c.316C= (p.Leu106=) c.181C= (p.Leu61=) | |
| 1 | g.229432694G>T | CA345149910 | ACTA1 | c.316C>A (p.Leu106Met) c.181C>A (p.Leu61Met) | |
| 1 | g.229432696del | CA423755218 | ACTA1 | c.316del (p.Leu106CysfsTer16) c.181del (p.Leu61CysfsTer16) | |
| 1 | g.229432695G>A | CA423755219 | ACTA1 | c.315C>T (p.Thr105=) c.180C>T (p.Thr60=) | dbSNP |
| 1 | g.229432695G>C | CA423755220 | ACTA1 | c.315C>G (p.Thr105=) c.180C>G (p.Thr60=) | |
| 1 | g.229432695G= | CA1226125927 | ACTA1 | c.315C= (p.Thr105=) c.180C= (p.Thr60=) | |
| 1 | g.229432695G>T | CA423755221 | ACTA1 | c.315C>A (p.Thr105=) c.180C>A (p.Thr60=) | |
| 1 | g.229432696G>A | CA1442895 | ACTA1 | c.314C>T (p.Thr105Ile) c.179C>T (p.Thr60Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432696G>C | CA345149921 | ACTA1 | c.314C>G (p.Thr105Ser) c.179C>G (p.Thr60Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432696G= | CA1226125928 | ACTA1 | c.314C= (p.Thr105=) c.179C= (p.Thr60=) | |
| 1 | g.229432696G>T | CA345149923 | ACTA1 | c.314C>A (p.Thr105Asn) c.179C>A (p.Thr60Asn) | gnomAD v4 |
| 1 | g.229432697T>A | CA345149925 | ACTA1 | c.313A>T (p.Thr105Ser) c.178A>T (p.Thr60Ser) | |
| 1 | g.229432697T>C | CA345149926 | ACTA1 | c.313A>G (p.Thr105Ala) c.178A>G (p.Thr60Ala) | |
| 1 | g.229432697T>G | CA345149927 | ACTA1 | c.313A>C (p.Thr105Pro) c.178A>C (p.Thr60Pro) | |
| 1 | g.229432698G>A | CA423755224 | ACTA1 | c.312C>T (p.Pro104=) c.177C>T (p.Pro59=) | dbSNP gnomAD v2 |
| 1 | g.229432698G>C | CA423755223 | ACTA1 | c.312C>G (p.Pro104=) c.177C>G (p.Pro59=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432698G= | CA1226125929 | ACTA1 | c.312C= (p.Pro104=) c.177C= (p.Pro59=) | |
| 1 | g.229432698G>T | CA423755222 | ACTA1 | c.312C>A (p.Pro104=) c.177C>A (p.Pro59=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432699G>A | CA345149930 | ACTA1 | c.311C>T (p.Pro104Leu) c.176C>T (p.Pro59Leu) | dbSNP gnomAD v4 |
| 1 | g.229432699G>C | CA1442896 | ACTA1 | c.311C>G (p.Pro104Arg) c.176C>G (p.Pro59Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432699G= | CA1226125930 | ACTA1 | c.311C= (p.Pro104=) c.176C= (p.Pro59=) | |
| 1 | g.229432699G>T | CA345149929 | ACTA1 | c.311C>A (p.Pro104His) c.176C>A (p.Pro59His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432700G>A | CA345149932 | ACTA1 | c.310C>T (p.Pro104Ser) c.175C>T (p.Pro59Ser) | |
| 1 | g.229432700G>C | CA345149947 | ACTA1 | c.310C>G (p.Pro104Ala) c.175C>G (p.Pro59Ala) | |
| 1 | g.229432700G>T | CA345149951 | ACTA1 | c.310C>A (p.Pro104Thr) c.175C>A (p.Pro59Thr) | |
| 1 | g.229432701G>A | CA38816438 | ACTA1 | c.309C>T (p.His103=) c.174C>T (p.His58=) | dbSNP |
| 1 | g.229432701G>C | CA345149954 | ACTA1 | c.309C>G (p.His103Gln) c.174C>G (p.His58Gln) | |
| 1 | g.229432701G= | CA1226125931 | ACTA1 | c.309C= (p.His103=) c.174C= (p.His58=) | |
| 1 | g.229432701G>T | CA345149956 | ACTA1 | c.309C>A (p.His103Gln) c.174C>A (p.His58Gln) | COSMIC |
| 1 | g.229432702T>A | CA345149962 | ACTA1 | c.308A>T (p.His103Leu) c.173A>T (p.His58Leu) | gnomAD v4 |
| 1 | g.229432702T>C | CA345149966 | ACTA1 | c.308A>G (p.His103Arg) c.173A>G (p.His58Arg) | |
| 1 | g.229432702T>G | CA345149968 | ACTA1 | c.308A>C (p.His103Pro) c.173A>C (p.His58Pro) | |
| 1 | g.229432703G>A | CA345149971 | ACTA1 | c.307C>T (p.His103Tyr) c.172C>T (p.His58Tyr) | ClinVar |
| 1 | g.229432703G>C | CA345149972 | ACTA1 | c.307C>G (p.His103Asp) c.172C>G (p.His58Asp) | |
| 1 | g.229432703G>T | CA345149973 | ACTA1 | c.307C>A (p.His103Asn) c.172C>A (p.His58Asn) | |
| 1 | g.229432703_229432704delinsGC | CA1226125932 | ACTA1 | c.306_307delinsGC (p.Glu102=) c.171_172delinsGC (p.Glu57=) | |
| 1 | g.229432704del | CA915942046 | ACTA1 | c.306del (p.Glu102AspfsTer20) c.171del (p.Glu57AspfsTer20) | ClinVar dbSNP |
| 1 | g.229432704C>A | CA345149974 | ACTA1 | c.306G>T (p.Glu102Asp) c.171G>T (p.Glu57Asp) | COSMIC |
| 1 | g.229432704C>G | CA345149975 | ACTA1 | c.306G>C (p.Glu102Asp) c.171G>C (p.Glu57Asp) | |
| 1 | g.229432704C>T | CA423755229 | ACTA1 | c.306G>A (p.Glu102=) c.171G>A (p.Glu57=) | ClinVar gnomAD v4 COSMIC |
| 1 | g.229432705T>A | CA345149977 | ACTA1 | c.305A>T (p.Glu102Val) c.170A>T (p.Glu57Val) | |
| 1 | g.229432705T>C | CA345149986 | ACTA1 | c.305A>G (p.Glu102Gly) c.170A>G (p.Glu57Gly) | |
| 1 | g.229432705T>G | CA345149984 | ACTA1 | c.305A>C (p.Glu102Ala) c.170A>C (p.Glu57Ala) | |
| 1 | g.229432706C>A | CA345149992 | ACTA1 | c.304G>T (p.Glu102Ter) c.169G>T (p.Glu57Ter) | |
| 1 | g.229432706C= | CA1226125933 | ACTA1 | c.304G= (p.Glu102=) c.169G= (p.Glu57=) | |
| 1 | g.229432706C>G | CA345149994 | ACTA1 | c.304G>C (p.Glu102Gln) c.169G>C (p.Glu57Gln) | |
| 1 | g.229432706C>T | CA16603574 | ACTA1 | c.304G>A (p.Glu102Lys) c.169G>A (p.Glu57Lys) | ClinVar dbSNP |
| 1 | g.229432707C>A | CA345149998 | ACTA1 | c.303G>T (p.Glu101Asp) c.168G>T (p.Glu56Asp) | |
| 1 | g.229432707C>G | CA345150000 | ACTA1 | c.303G>C (p.Glu101Asp) c.168G>C (p.Glu56Asp) | |
| 1 | g.229432707C>T | CA423755305 | ACTA1 | c.303G>A (p.Glu101=) c.168G>A (p.Glu56=) | |
| 1 | g.229432708T>A | CA345150007 | ACTA1 | c.302A>T (p.Glu101Val) c.167A>T (p.Glu56Val) | |
| 1 | g.229432708T>C | CA345150005 | ACTA1 | c.302A>G (p.Glu101Gly) c.167A>G (p.Glu56Gly) | |
| 1 | g.229432708T>G | CA345150003 | ACTA1 | c.302A>C (p.Glu101Ala) c.167A>C (p.Glu56Ala) | |
| 1 | g.229432709C>A | CA345150009 | ACTA1 | c.301G>T (p.Glu101Ter) c.166G>T (p.Glu56Ter) | dbSNP |
| 1 | g.229432709C= | CA1226125934 | ACTA1 | c.301G= (p.Glu101=) c.166G= (p.Glu56=) | |
| 1 | g.229432709C>G | CA345150011 | ACTA1 | c.301G>C (p.Glu101Gln) c.166G>C (p.Glu56Gln) | |
| 1 | g.229432709C>T | CA345150014 | ACTA1 | c.301G>A (p.Glu101Lys) c.166G>A (p.Glu56Lys) | gnomAD v4 |
| 1 | g.229432710G>A | CA423755312 | ACTA1 | c.300C>T (p.Pro100=) c.165C>T (p.Pro55=) | ClinVar |
| 1 | g.229432710G>C | CA423755313 | ACTA1 | c.300C>G (p.Pro100=) c.165C>G (p.Pro55=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432710G= | CA1226125935 | ACTA1 | c.300C= (p.Pro100=) c.165C= (p.Pro55=) | |
| 1 | g.229432710G>T | CA423755314 | ACTA1 | c.300C>A (p.Pro100=) c.165C>A (p.Pro55=) | |
| 1 | g.229432711G>A | CA345150022 | ACTA1 | c.299C>T (p.Pro100Leu) c.164C>T (p.Pro55Leu) | |
| 1 | g.229432711G>C | CA345150033 | ACTA1 | c.299C>G (p.Pro100Arg) c.164C>G (p.Pro55Arg) | |
| 1 | g.229432711G>T | CA345150036 | ACTA1 | c.299C>A (p.Pro100His) c.164C>A (p.Pro55His) | |
| 1 | g.229432712G>A | CA1442897 | ACTA1 | c.298C>T (p.Pro100Ser) c.163C>T (p.Pro55Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432712G>C | CA345150043 | ACTA1 | c.298C>G (p.Pro100Ala) c.163C>G (p.Pro55Ala) | |
| 1 | g.229432712G= | CA1148257598 | ACTA1 | c.298C= (p.Pro100=) c.163C= (p.Pro55=) | |
| 1 | g.229432712G>T | CA345150040 | ACTA1 | c.298C>A (p.Pro100Thr) c.163C>A (p.Pro55Thr) | |
| 1 | g.229432713A= | CA1226125936 | ACTA1 | c.297T= (p.Ala99=) c.162T= (p.Ala54=) | |
| 1 | g.229432713A>C | CA423755318 | ACTA1 | c.297T>G (p.Ala99=) c.162T>G (p.Ala54=) | |
| 1 | g.229432713A>G | CA38816447 | ACTA1 | c.297T>C (p.Ala99=) c.162T>C (p.Ala54=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432713A>T | CA423755319 | ACTA1 | c.297T>A (p.Ala99=) c.162T>A (p.Ala54=) | |
| 1 | g.229432714G>A | CA345150050 | ACTA1 | c.296C>T (p.Ala99Val) c.161C>T (p.Ala54Val) | |
| 1 | g.229432714G>C | CA345150054 | ACTA1 | c.296C>G (p.Ala99Gly) c.161C>G (p.Ala54Gly) | |
| 1 | g.229432714G>T | CA345150056 | ACTA1 | c.296C>A (p.Ala99Asp) c.161C>A (p.Ala54Asp) | |
| 1 | g.229432715C>A | CA345150058 | ACTA1 | c.295G>T (p.Ala99Ser) c.160G>T (p.Ala54Ser) | gnomAD v4 |
| 1 | g.229432715C>G | CA345150060 | ACTA1 | c.295G>C (p.Ala99Pro) c.160G>C (p.Ala54Pro) | |
| 1 | g.229432715C>T | CA345150062 | ACTA1 | c.295G>A (p.Ala99Thr) c.160G>A (p.Ala54Thr) | |
| 1 | g.229432716C>A | CA423755323 | ACTA1 | c.294G>T (p.Val98=) c.159G>T (p.Val53=) | |
| 1 | g.229432716C= | CA1226125937 | ACTA1 | c.294G= (p.Val98=) c.159G= (p.Val53=) | |
| 1 | g.229432716C>G | CA423755324 | ACTA1 | c.294G>C (p.Val98=) c.159G>C (p.Val53=) | dbSNP |
| 1 | g.229432716C>T | CA423755325 | ACTA1 | c.294G>A (p.Val98=) c.159G>A (p.Val53=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432717A>C | CA345150063 | ACTA1 | c.293T>G (p.Val98Gly) c.158T>G (p.Val53Gly) | |
| 1 | g.229432717A>G | CA345150064 | ACTA1 | c.293T>C (p.Val98Ala) c.158T>C (p.Val53Ala) | |
| 1 | g.229432717A>T | CA345150066 | ACTA1 | c.293T>A (p.Val98Glu) c.158T>A (p.Val53Glu) | |
| 1 | g.229432718C>A | CA345150075 | ACTA1 | c.292G>T (p.Val98Leu) c.157G>T (p.Val53Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432718C= | CA1226125938 | ACTA1 | c.292G= (p.Val98=) c.157G= (p.Val53=) | |
| 1 | g.229432718C>G | CA345150072 | ACTA1 | c.292G>C (p.Val98Leu) c.157G>C (p.Val53Leu) | dbSNP |
| 1 | g.229432718C>T | CA345150069 | ACTA1 | c.292G>A (p.Val98Met) c.157G>A (p.Val53Met) | |
| 1 | g.229432719G>A | CA423755329 | ACTA1 | c.291C>T (p.Arg97=) c.156C>T (p.Arg52=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432719G>C | CA423755327 | ACTA1 | c.291C>G (p.Arg97=) c.156C>G (p.Arg52=) | |
| 1 | g.229432719G= | CA1226125939 | ACTA1 | c.291C= (p.Arg97=) c.156C= (p.Arg52=) | |
| 1 | g.229432719G>T | CA423755334 | ACTA1 | c.291C>A (p.Arg97=) c.156C>A (p.Arg52=) | dbSNP |
| 1 | g.229432720C>A | CA345150076 | ACTA1 | c.290G>T (p.Arg97Leu) c.155G>T (p.Arg52Leu) | |
| 1 | g.229432720C>G | CA345150081 | ACTA1 | c.290G>C (p.Arg97Pro) c.155G>C (p.Arg52Pro) | |
| 1 | g.229432720C>T | CA345150078 | ACTA1 | c.290G>A (p.Arg97His) c.155G>A (p.Arg52His) | |
| 1 | g.229432721G>A | CA345150082 | ACTA1 | c.289C>T (p.Arg97Cys) c.154C>T (p.Arg52Cys) | COSMIC |
| 1 | g.229432721G>C | CA345150084 | ACTA1 | c.289C>G (p.Arg97Gly) c.154C>G (p.Arg52Gly) | |
| 1 | g.229432721G>T | CA345150083 | ACTA1 | c.289C>A (p.Arg97Ser) c.154C>A (p.Arg52Ser) | |
| 1 | g.229432722A= | CA1146571440 | ACTA1 | c.288T= (p.Leu96=) c.153T= (p.Leu51=) | |
| 1 | g.229432722A>C | CA423755339 | ACTA1 | c.288T>G (p.Leu96=) c.153T>G (p.Leu51=) | dbSNP |
| 1 | g.229432722A>G | CA38816457 | ACTA1 | c.288T>C (p.Leu96=) c.153T>C (p.Leu51=) | dbSNP |
| 1 | g.229432722A>T | CA423755338 | ACTA1 | c.288T>A (p.Leu96=) c.153T>A (p.Leu51=) | |
| 1 | g.229432723A= | CA1141581380 | ACTA1 | c.287T= (p.Leu96=) c.152T= (p.Leu51=) | |
| 1 | g.229432723A>C | CA345150085 | ACTA1 | c.287T>G (p.Leu96Arg) c.152T>G (p.Leu51Arg) | |
| 1 | g.229432723A>G | CA258130 | ACTA1 | c.287T>C (p.Leu96Pro) c.152T>C (p.Leu51Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432723A>T | CA345150086 | ACTA1 | c.287T>A (p.Leu96His) c.152T>A (p.Leu51His) | |
| 1 | g.229432724G>A | CA345150088 | ACTA1 | c.286C>T (p.Leu96Phe) c.151C>T (p.Leu51Phe) | |
| 1 | g.229432724G>C | CA345150092 | ACTA1 | c.286C>G (p.Leu96Val) c.151C>G (p.Leu51Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432724G>T | CA345150094 | ACTA1 | c.286C>A (p.Leu96Ile) c.151C>A (p.Leu51Ile) | |
| 1 | g.229432724_229432725del | CA2574151344 | ACTA1 | c.285_286del (p.Glu95AspfsTer?) c.150_151del (p.Glu50AspfsTer?) | gnomAD v4 |
| 1 | g.229432725C>A | CA345150097 | ACTA1 | c.285G>T (p.Glu95Asp) c.150G>T (p.Glu50Asp) | |
| 1 | g.229432725C= | CA1226125940 | ACTA1 | c.285G= (p.Glu95=) c.150G= (p.Glu50=) | |
| 1 | g.229432725C>G | CA345150098 | ACTA1 | c.285G>C (p.Glu95Asp) c.150G>C (p.Glu50Asp) | |
| 1 | g.229432725C>T | CA423755343 | ACTA1 | c.285G>A (p.Glu95=) c.150G>A (p.Glu50=) | dbSNP |
| 1 | g.229432726T>A | CA345150101 | ACTA1 | c.284A>T (p.Glu95Val) c.149A>T (p.Glu50Val) | |
| 1 | g.229432726T>C | CA345150104 | ACTA1 | c.284A>G (p.Glu95Gly) c.149A>G (p.Glu50Gly) | ClinVar |
| 1 | g.229432726T>G | CA345150108 | ACTA1 | c.284A>C (p.Glu95Ala) c.149A>C (p.Glu50Ala) | |
| 1 | g.229432727C>A | CA345150111 | ACTA1 | c.283G>T (p.Glu95Ter) c.148G>T (p.Glu50Ter) | |
| 1 | g.229432727C= | CA1226125941 | ACTA1 | c.283G= (p.Glu95=) c.148G= (p.Glu50=) | |
| 1 | g.229432727C>G | CA345150113 | ACTA1 | c.283G>C (p.Glu95Gln) c.148G>C (p.Glu50Gln) | |
| 1 | g.229432727C>T | CA345150112 | ACTA1 | c.283G>A (p.Glu95Lys) c.148G>A (p.Glu50Lys) | ClinVar dbSNP |
| 1 | g.229432728G>A | CA1442898 | ACTA1 | c.282C>T (p.Asn94=) c.147C>T (p.Asn49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.229432728G>C | CA345150114 | ACTA1 | c.282C>G (p.Asn94Lys) c.147C>G (p.Asn49Lys) | |
| 1 | g.229432728G= | CA1226125942 | ACTA1 | c.282C= (p.Asn94=) c.147C= (p.Asn49=) | |
| 1 | g.229432728G>T | CA345150117 | ACTA1 | c.282C>A (p.Asn94Lys) c.147C>A (p.Asn49Lys) | ClinVar dbSNP |
| 1 | g.229432729T>A | CA345150119 | ACTA1 | c.281A>T (p.Asn94Ile) c.146A>T (p.Asn49Ile) | |
| 1 | g.229432729T>C | CA1442899 | ACTA1 | c.281A>G (p.Asn94Ser) c.146A>G (p.Asn49Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432729T>G | CA345150124 | ACTA1 | c.281A>C (p.Asn94Thr) c.146A>C (p.Asn49Thr) | |
| 1 | g.229432729T= | CA1226125943 | ACTA1 | c.281A= (p.Asn94=) c.146A= (p.Asn49=) | |
| 1 | g.229432730T>A | CA345150128 | ACTA1 | c.280A>T (p.Asn94Tyr) c.145A>T (p.Asn49Tyr) | ClinVar |
| 1 | g.229432730T>C | CA345150129 | ACTA1 | c.280A>G (p.Asn94Asp) c.145A>G (p.Asn49Asp) | |
| 1 | g.229432730T>G | CA345150130 | ACTA1 | c.280A>C (p.Asn94His) c.145A>C (p.Asn49His) | ClinVar |
| 1 | g.229432731G>A | CA1442900 | ACTA1 | c.279C>T (p.Tyr93=) c.144C>T (p.Tyr48=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432731G>C | CA345150132 | ACTA1 | c.279C>G (p.Tyr93Ter) c.144C>G (p.Tyr48Ter) | |
| 1 | g.229432731G= | CA1148425537 | ACTA1 | c.279C= (p.Tyr93=) c.144C= (p.Tyr48=) | |
| 1 | g.229432731G>T | CA345150131 | ACTA1 | c.279C>A (p.Tyr93Ter) c.144C>A (p.Tyr48Ter) | |
| 1 | g.229432732T>A | CA345150133 | ACTA1 | c.278A>T (p.Tyr93Phe) c.143A>T (p.Tyr48Phe) | |
| 1 | g.229432732T>C | CA345150135 | ACTA1 | c.278A>G (p.Tyr93Cys) c.143A>G (p.Tyr48Cys) | |
| 1 | g.229432732T>G | CA345150136 | ACTA1 | c.278A>C (p.Tyr93Ser) c.143A>C (p.Tyr48Ser) | |
| 1 | g.229432732_229432735delinsTAGA | CA1226125944 | ACTA1 | c.275_278delinsTCTA (p.Phe92=) c.140_143delinsTCTA (p.Phe47=) | |
| 1 | g.229432733A>C | CA345150139 | ACTA1 | c.277T>G (p.Tyr93Asp) c.142T>G (p.Tyr48Asp) | |
| 1 | g.229432733A>G | CA345150141 | ACTA1 | c.277T>C (p.Tyr93His) c.142T>C (p.Tyr48His) | |
| 1 | g.229432733A>T | CA345150142 | ACTA1 | c.277T>A (p.Tyr93Asn) c.142T>A (p.Tyr48Asn) | |
| 1 | g.229432735_229432737del | CA891843098 | ACTA1 | c.275_277del (p.Phe92del) c.140_142del (p.Phe47del) | ClinVar dbSNP |
| 1 | g.229432734G>A | CA423755357 | ACTA1 | c.276C>T (p.Phe92=) c.141C>T (p.Phe47=) | |
| 1 | g.229432734G>C | CA345150143 | ACTA1 | c.276C>G (p.Phe92Leu) c.141C>G (p.Phe47Leu) | |
| 1 | g.229432734G>T | CA345150146 | ACTA1 | c.276C>A (p.Phe92Leu) c.141C>A (p.Phe47Leu) | |
| 1 | g.229432735A>C | CA345150148 | ACTA1 | c.275T>G (p.Phe92Cys) c.140T>G (p.Phe47Cys) | |
| 1 | g.229432735A>G | CA345150151 | ACTA1 | c.275T>C (p.Phe92Ser) c.140T>C (p.Phe47Ser) | |
| 1 | g.229432735A>T | CA345150153 | ACTA1 | c.275T>A (p.Phe92Tyr) c.140T>A (p.Phe47Tyr) | |
| 1 | g.229432736A>C | CA345150155 | ACTA1 | c.274T>G (p.Phe92Val) c.139T>G (p.Phe47Val) | |
| 1 | g.229432736A>G | CA345150157 | ACTA1 | c.274T>C (p.Phe92Leu) c.139T>C (p.Phe47Leu) | |
| 1 | g.229432736A>T | CA345150154 | ACTA1 | c.274T>A (p.Phe92Ile) c.139T>A (p.Phe47Ile) | |
| 1 | g.229432737G>A | CA423755362 | ACTA1 | c.273C>T (p.Thr91=) c.138C>T (p.Thr46=) | |
| 1 | g.229432737G>C | CA423755363 | ACTA1 | c.273C>G (p.Thr91=) c.138C>G (p.Thr46=) | |
| 1 | g.229432737G>T | CA423755364 | ACTA1 | c.273C>A (p.Thr91=) c.138C>A (p.Thr46=) | |
| 1 | g.229432738G>A | CA345150160 | ACTA1 | c.272C>T (p.Thr91Ile) c.137C>T (p.Thr46Ile) | |
| 1 | g.229432738G>C | CA1442901 | ACTA1 | c.272C>G (p.Thr91Ser) c.137C>G (p.Thr46Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432738G= | CA1226125945 | ACTA1 | c.272C= (p.Thr91=) c.137C= (p.Thr46=) | |
| 1 | g.229432738G>T | CA345150162 | ACTA1 | c.272C>A (p.Thr91Asn) c.137C>A (p.Thr46Asn) | |
| 1 | g.229432739T>A | CA345150171 | ACTA1 | c.271A>T (p.Thr91Ser) c.136A>T (p.Thr46Ser) | |
| 1 | g.229432739T>C | CA38816508 | ACTA1 | c.271A>G (p.Thr91Ala) c.136A>G (p.Thr46Ala) | dbSNP |
| 1 | g.229432739T>G | CA345150175 | ACTA1 | c.271A>C (p.Thr91Pro) c.136A>C (p.Thr46Pro) | |
| 1 | g.229432739T= | CA1226125946 | ACTA1 | c.271A= (p.Thr91=) c.136A= (p.Thr46=) | |
| 1 | g.229432740G>A | CA423755365 | ACTA1 | c.270C>T (p.His90=) c.135C>T (p.His45=) | |
| 1 | g.229432740G>C | CA345150177 | ACTA1 | c.270C>G (p.His90Gln) c.135C>G (p.His45Gln) | |
| 1 | g.229432740G>T | CA345150178 | ACTA1 | c.270C>A (p.His90Gln) c.135C>A (p.His45Gln) | |
| 1 | g.229432741T>A | CA345150179 | ACTA1 | c.269A>T (p.His90Leu) c.134A>T (p.His45Leu) | |
| 1 | g.229432741T>C | CA345150180 | ACTA1 | c.269A>G (p.His90Arg) c.134A>G (p.His45Arg) | |
| 1 | g.229432741T>G | CA345150182 | ACTA1 | c.269A>C (p.His90Pro) c.134A>C (p.His45Pro) | |
| 1 | g.229432742G>A | CA345150192 | ACTA1 | c.268C>T (p.His90Tyr) c.133C>T (p.His45Tyr) | |
| 1 | g.229432742G>C | CA345150196 | ACTA1 | c.268C>G (p.His90Asp) c.133C>G (p.His45Asp) | |
| 1 | g.229432742G>T | CA345150198 | ACTA1 | c.268C>A (p.His90Asn) c.133C>A (p.His45Asn) | |
| 1 | g.229432743G>A | CA423755369 | ACTA1 | c.267C>T (p.His89=) c.132C>T (p.His44=) | dbSNP |
| 1 | g.229432743G>C | CA345150202 | ACTA1 | c.267C>G (p.His89Gln) c.132C>G (p.His44Gln) | |
| 1 | g.229432743G= | CA1226125947 | ACTA1 | c.267C= (p.His89=) c.132C= (p.His44=) | |
| 1 | g.229432743G>T | CA345150200 | ACTA1 | c.267C>A (p.His89Gln) c.132C>A (p.His44Gln) | COSMIC |
| 1 | g.229432744T>A | CA345150206 | ACTA1 | c.266A>T (p.His89Leu) c.131A>T (p.His44Leu) | |
| 1 | g.229432744T>C | CA345150215 | ACTA1 | c.266A>G (p.His89Arg) c.131A>G (p.His44Arg) | |
| 1 | g.229432744T>G | CA345150208 | ACTA1 | c.266A>C (p.His89Pro) c.131A>C (p.His44Pro) | |
| 1 | g.229432745G>A | CA345150218 | ACTA1 | c.265C>T (p.His89Tyr) c.130C>T (p.His44Tyr) | |
| 1 | g.229432745G>C | CA345150219 | ACTA1 | c.265C>G (p.His89Asp) c.130C>G (p.His44Asp) | |
| 1 | g.229432745G>T | CA345150221 | ACTA1 | c.265C>A (p.His89Asn) c.130C>A (p.His44Asn) | |
| 1 | g.229432746C>A | CA345150223 | ACTA1 | c.264G>T (p.Trp88Cys) c.129G>T (p.Trp43Cys) | |
| 1 | g.229432746C= | CA1226125948 | ACTA1 | c.264G= (p.Trp88=) c.129G= (p.Trp43=) | |
| 1 | g.229432746C>G | CA345150226 | ACTA1 | c.264G>C (p.Trp88Cys) c.129G>C (p.Trp43Cys) | |
| 1 | g.229432746C>T | CA345150231 | ACTA1 | c.264G>A (p.Trp88Ter) c.129G>A (p.Trp43Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432747C>A | CA345150234 | ACTA1 | c.263G>T (p.Trp88Leu) c.128G>T (p.Trp43Leu) | |
| 1 | g.229432747C>G | CA345150237 | ACTA1 | c.263G>C (p.Trp88Ser) c.128G>C (p.Trp43Ser) | |
| 1 | g.229432747C>T | CA345150241 | ACTA1 | c.263G>A (p.Trp88Ter) c.128G>A (p.Trp43Ter) | |
| 1 | g.229432748A= | CA1226125949 | ACTA1 | c.262T= (p.Trp88=) c.127T= (p.Trp43=) | |
| 1 | g.229432748A>C | CA345150245 | ACTA1 | c.262T>G (p.Trp88Gly) c.127T>G (p.Trp43Gly) | |
| 1 | g.229432748A>G | CA1442902 | ACTA1 | c.262T>C (p.Trp88Arg) c.127T>C (p.Trp43Arg) | dbSNP ExAC |
| 1 | g.229432748A>T | CA345150250 | ACTA1 | c.262T>A (p.Trp88Arg) c.127T>A (p.Trp43Arg) | |
| 1 | g.229432749G>A | CA423755374 | ACTA1 | c.261C>T (p.Ile87=) c.126C>T (p.Ile42=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432749G>C | CA345150253 | ACTA1 | c.261C>G (p.Ile87Met) c.126C>G (p.Ile42Met) | |
| 1 | g.229432749G= | CA1226125950 | ACTA1 | c.261C= (p.Ile87=) c.126C= (p.Ile42=) | |
| 1 | g.229432749G>T | CA423755375 | ACTA1 | c.261C>A (p.Ile87=) c.126C>A (p.Ile42=) | |
| 1 | g.229432750A>C | CA345150256 | ACTA1 | c.260T>G (p.Ile87Ser) c.125T>G (p.Ile42Ser) | |
| 1 | g.229432750A>G | CA345150260 | ACTA1 | c.260T>C (p.Ile87Thr) c.125T>C (p.Ile42Thr) | |
| 1 | g.229432750A>T | CA345150257 | ACTA1 | c.260T>A (p.Ile87Asn) c.125T>A (p.Ile42Asn) | |
| 1 | g.229432751T>A | CA345150275 | ACTA1 | c.259A>T (p.Ile87Phe) c.124A>T (p.Ile42Phe) | |
| 1 | g.229432751T>C | CA345150277 | ACTA1 | c.259A>G (p.Ile87Val) c.124A>G (p.Ile42Val) | |
| 1 | g.229432751T>G | CA345150279 | ACTA1 | c.259A>C (p.Ile87Leu) c.124A>C (p.Ile42Leu) | |
| 1 | g.229432754_229432756del | CA2650926822 | ACTA1 | c.257_259del (p.Lys86del) c.122_124del (p.Lys41del) | gnomAD v4 |
| 1 | g.229432752C>A | CA345150285 | ACTA1 | c.258G>T (p.Lys86Asn) c.123G>T (p.Lys41Asn) | |
| 1 | g.229432752C>G | CA345150287 | ACTA1 | c.258G>C (p.Lys86Asn) c.123G>C (p.Lys41Asn) | |
| 1 | g.229432752C>T | CA423755378 | ACTA1 | c.258G>A (p.Lys86=) c.123G>A (p.Lys41=) | |
| 1 | g.229432753T>A | CA345150291 | ACTA1 | c.257A>T (p.Lys86Met) c.122A>T (p.Lys41Met) | |
| 1 | g.229432753T>C | CA345150295 | ACTA1 | c.257A>G (p.Lys86Arg) c.122A>G (p.Lys41Arg) | |
| 1 | g.229432753T>G | CA345150296 | ACTA1 | c.257A>C (p.Lys86Thr) c.122A>C (p.Lys41Thr) | |
| 1 | g.229432754T>A | CA345150301 | ACTA1 | c.256A>T (p.Lys86Ter) c.121A>T (p.Lys41Ter) | |
| 1 | g.229432754T>C | CA345150304 | ACTA1 | c.256A>G (p.Lys86Glu) c.121A>G (p.Lys41Glu) | |
| 1 | g.229432754T>G | CA345150306 | ACTA1 | c.256A>C (p.Lys86Gln) c.121A>C (p.Lys41Gln) | |
| 1 | g.229432755C>A | CA345150311 | ACTA1 | c.255G>T (p.Glu85Asp) c.120G>T (p.Glu40Asp) | |
| 1 | g.229432755C= | CA1226125951 | ACTA1 | c.255G= (p.Glu85=) c.120G= (p.Glu40=) | |
| 1 | g.229432755C>G | CA345150309 | ACTA1 | c.255G>C (p.Glu85Asp) c.120G>C (p.Glu40Asp) | |
| 1 | g.229432755C>T | CA423755383 | ACTA1 | c.255G>A (p.Glu85=) c.120G>A (p.Glu40=) | dbSNP |
| 1 | g.229432756T>A | CA345150314 | ACTA1 | c.254A>T (p.Glu85Val) c.119A>T (p.Glu40Val) | dbSNP |
| 1 | g.229432756T>C | CA345150317 | ACTA1 | c.254A>G (p.Glu85Gly) c.119A>G (p.Glu40Gly) | |
| 1 | g.229432756T>G | CA345150316 | ACTA1 | c.254A>C (p.Glu85Ala) c.119A>C (p.Glu40Ala) | |
| 1 | g.229432756T= | CA1226125952 | ACTA1 | c.254A= (p.Glu85=) c.119A= (p.Glu40=) | |
| 1 | g.229432757C>A | CA345150320 | ACTA1 | c.253G>T (p.Glu85Ter) c.118G>T (p.Glu40Ter) | |
| 1 | g.229432757C>G | CA345150325 | ACTA1 | c.253G>C (p.Glu85Gln) c.118G>C (p.Glu40Gln) | |
| 1 | g.229432757C>T | CA345150327 | ACTA1 | c.253G>A (p.Glu85Lys) c.118G>A (p.Glu40Lys) | COSMIC |
| 1 | g.229432758C>A | CA345150329 | ACTA1 | c.252G>T (p.Met84Ile) c.117G>T (p.Met39Ile) | |
| 1 | g.229432758C>G | CA345150335 | ACTA1 | c.252G>C (p.Met84Ile) c.117G>C (p.Met39Ile) | |
| 1 | g.229432758C>T | CA345150337 | ACTA1 | c.252G>A (p.Met84Ile) c.117G>A (p.Met39Ile) | COSMIC |
| 1 | g.229432759A= | CA1226125953 | ACTA1 | c.251T= (p.Met84=) c.116T= (p.Met39=) | |
| 1 | g.229432759A>C | CA345150339 | ACTA1 | c.251T>G (p.Met84Arg) c.116T>G (p.Met39Arg) | |
| 1 | g.229432759A>G | CA345150346 | ACTA1 | c.251T>C (p.Met84Thr) c.116T>C (p.Met39Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432759A>T | CA345150349 | ACTA1 | c.251T>A (p.Met84Lys) c.116T>A (p.Met39Lys) | |
| 1 | g.229432760T>A | CA345150352 | ACTA1 | c.250A>T (p.Met84Leu) c.115A>T (p.Met39Leu) | |
| 1 | g.229432760T>C | CA345150356 | ACTA1 | c.250A>G (p.Met84Val) c.115A>G (p.Met39Val) | |
| 1 | g.229432760T>G | CA345150358 | ACTA1 | c.250A>C (p.Met84Leu) c.115A>C (p.Met39Leu) | |
| 1 | g.229432761G>A | CA423755388 | ACTA1 | c.249C>T (p.Asp83=) c.114C>T (p.Asp38=) | ClinVar dbSNP |
| 1 | g.229432761G>C | CA345150361 | ACTA1 | c.249C>G (p.Asp83Glu) c.114C>G (p.Asp38Glu) | |
| 1 | g.229432761G= | CA1226125954 | ACTA1 | c.249C= (p.Asp83=) c.114C= (p.Asp38=) | |
| 1 | g.229432761G>T | CA345150367 | ACTA1 | c.249C>A (p.Asp83Glu) c.114C>A (p.Asp38Glu) | |
| 1 | g.229432762T>A | CA345150370 | ACTA1 | c.248A>T (p.Asp83Val) c.113A>T (p.Asp38Val) | |
| 1 | g.229432762T>C | CA345150373 | ACTA1 | c.248A>G (p.Asp83Gly) c.113A>G (p.Asp38Gly) | COSMIC |
| 1 | g.229432762T>G | CA345150385 | ACTA1 | c.248A>C (p.Asp83Ala) c.113A>C (p.Asp38Ala) | |
| 1 | g.229432762_229432763delinsTC | CA1226125955 | ACTA1 | c.247_248delinsGA (p.Asp83=) c.112_113delinsGA (p.Asp38=) | |
| 1 | g.229432763del | CA529915292 | ACTA1 | c.247del (p.Asp83ThrfsTer?) c.112del (p.Asp38ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432763C>A | CA345150389 | ACTA1 | c.247G>T (p.Asp83Tyr) c.112G>T (p.Asp38Tyr) | |
| 1 | g.229432763C>G | CA345150391 | ACTA1 | c.247G>C (p.Asp83His) c.112G>C (p.Asp38His) | |
| 1 | g.229432763C>T | CA345150395 | ACTA1 | c.247G>A (p.Asp83Asn) c.112G>A (p.Asp38Asn) | |
| 1 | g.229432764A= | CA1143951563 | ACTA1 | c.246T= (p.Asp82=) c.111T= (p.Asp37=) | |
| 1 | g.229432764A>C | CA345150401 | ACTA1 | c.246T>G (p.Asp82Glu) c.111T>G (p.Asp37Glu) | |
| 1 | g.229432764A>G | CA205739 | ACTA1 | c.246T>C (p.Asp82=) c.111T>C (p.Asp37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432764A>T | CA345150407 | ACTA1 | c.246T>A (p.Asp82Glu) c.111T>A (p.Asp37Glu) | |
| 1 | g.229432765T>A | CA345150408 | ACTA1 | c.245A>T (p.Asp82Val) c.110A>T (p.Asp37Val) | dbSNP |
| 1 | g.229432765T>C | CA345150409 | ACTA1 | c.245A>G (p.Asp82Gly) c.110A>G (p.Asp37Gly) | gnomAD v4 |
| 1 | g.229432765T>G | CA345150410 | ACTA1 | c.245A>C (p.Asp82Ala) c.110A>C (p.Asp37Ala) | |
| 1 | g.229432765T= | CA1226125956 | ACTA1 | c.245A= (p.Asp82=) c.110A= (p.Asp37=) | |
| 1 | g.229432766C>A | CA345150411 | ACTA1 | c.244G>T (p.Asp82Tyr) c.109G>T (p.Asp37Tyr) | |
| 1 | g.229432766C>G | CA345150415 | ACTA1 | c.244G>C (p.Asp82His) c.109G>C (p.Asp37His) | |
| 1 | g.229432766C>T | CA345150413 | ACTA1 | c.244G>A (p.Asp82Asn) c.109G>A (p.Asp37Asn) | |
| 1 | g.229432767C>A | CA345150419 | ACTA1 | c.243G>T (p.Trp81Cys) c.108G>T (p.Trp36Cys) | |
| 1 | g.229432767C= | CA1226125957 | ACTA1 | c.243G= (p.Trp81=) c.108G= (p.Trp36=) | |
| 1 | g.229432767C>G | CA345150425 | ACTA1 | c.243G>C (p.Trp81Cys) c.108G>C (p.Trp36Cys) | |
| 1 | g.229432767C>T | CA10588285 | ACTA1 | c.243G>A (p.Trp81Ter) c.108G>A (p.Trp36Ter) | ClinVar dbSNP COSMIC |
| 1 | g.229432768C>A | CA345150429 | ACTA1 | c.242G>T (p.Trp81Leu) c.107G>T (p.Trp36Leu) | |
| 1 | g.229432768C>G | CA345150432 | ACTA1 | c.242G>C (p.Trp81Ser) c.107G>C (p.Trp36Ser) | |
| 1 | g.229432768C>T | CA345150431 | ACTA1 | c.242G>A (p.Trp81Ter) c.107G>A (p.Trp36Ter) | |
| 1 | g.229432769A>C | CA345150433 | ACTA1 | c.241T>G (p.Trp81Gly) c.106T>G (p.Trp36Gly) | |
| 1 | g.229432769A>G | CA345150435 | ACTA1 | c.241T>C (p.Trp81Arg) c.106T>C (p.Trp36Arg) | |
| 1 | g.229432769A>T | CA345150434 | ACTA1 | c.241T>A (p.Trp81Arg) c.106T>A (p.Trp36Arg) | |
| 1 | g.229432770G>A | CA423755398 | ACTA1 | c.240C>T (p.Asn80=) c.105C>T (p.Asn35=) | |
| 1 | g.229432770G>C | CA345150436 | ACTA1 | c.240C>G (p.Asn80Lys) c.105C>G (p.Asn35Lys) | |
| 1 | g.229432770G>T | CA345150438 | ACTA1 | c.240C>A (p.Asn80Lys) c.105C>A (p.Asn35Lys) | |
| 1 | g.229432771T>A | CA345150441 | ACTA1 | c.239A>T (p.Asn80Ile) c.104A>T (p.Asn35Ile) | |
| 1 | g.229432771T>C | CA345150444 | ACTA1 | c.239A>G (p.Asn80Ser) c.104A>G (p.Asn35Ser) | gnomAD v4 |
| 1 | g.229432771T>G | CA345150447 | ACTA1 | c.239A>C (p.Asn80Thr) c.104A>C (p.Asn35Thr) | ClinVar |
| 1 | g.229432772T>A | CA345150449 | ACTA1 | c.238A>T (p.Asn80Tyr) c.103A>T (p.Asn35Tyr) | |
| 1 | g.229432772T>C | CA345150450 | ACTA1 | c.238A>G (p.Asn80Asp) c.103A>G (p.Asn35Asp) | |
| 1 | g.229432772T>G | CA345150454 | ACTA1 | c.238A>C (p.Asn80His) c.103A>C (p.Asn35His) | |
| 1 | g.229432773G>A | CA423755404 | ACTA1 | c.237C>T (p.Thr79=) c.102C>T (p.Thr34=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432773G>C | CA423755405 | ACTA1 | c.237C>G (p.Thr79=) c.102C>G (p.Thr34=) | |
| 1 | g.229432773G= | CA1226125958 | ACTA1 | c.237C= (p.Thr79=) c.102C= (p.Thr34=) | |
| 1 | g.229432773G>T | CA423755406 | ACTA1 | c.237C>A (p.Thr79=) c.102C>A (p.Thr34=) | |
| 1 | g.229432773_229432774delinsT | CA2573051511 | ACTA1 | c.236_237delinsA (p.Thr79LysfsTer?) c.101_102delinsA (p.Thr34LysfsTer?) | ClinVar dbSNP |
| 1 | g.229432774del | CA2573051512 | ACTA1 | c.237del (p.Asn80ThrfsTer?) c.102del (p.Asn35ThrfsTer?) | dbSNP |
| 1 | g.229432774G>A | CA345150456 | ACTA1 | c.236C>T (p.Thr79Ile) c.101C>T (p.Thr34Ile) | ClinVar dbSNP |
| 1 | g.229432774G>C | CA345150458 | ACTA1 | c.236C>G (p.Thr79Ser) c.101C>G (p.Thr34Ser) | |
| 1 | g.229432774G= | CA1226125959 | ACTA1 | c.236C= (p.Thr79=) c.101C= (p.Thr34=) | |
| 1 | g.229432774G>T | CA345150459 | ACTA1 | c.236C>A (p.Thr79Asn) c.101C>A (p.Thr34Asn) | |
| 1 | g.229432775T>A | CA345150464 | ACTA1 | c.235A>T (p.Thr79Ser) c.100A>T (p.Thr34Ser) | |
| 1 | g.229432775T>C | CA345150463 | ACTA1 | c.235A>G (p.Thr79Ala) c.100A>G (p.Thr34Ala) | |
| 1 | g.229432775T>G | CA345150462 | ACTA1 | c.235A>C (p.Thr79Pro) c.100A>C (p.Thr34Pro) | |
| 1 | g.229432776G>A | CA423755411 | ACTA1 | c.234C>T (p.Ile78=) c.99C>T (p.Ile33=) | |
| 1 | g.229432776G>C | CA345150465 | ACTA1 | c.234C>G (p.Ile78Met) c.99C>G (p.Ile33Met) | |
| 1 | g.229432776G>T | CA423755412 | ACTA1 | c.234C>A (p.Ile78=) c.99C>A (p.Ile33=) | |
| 1 | g.229432777A>C | CA345150466 | ACTA1 | c.233T>G (p.Ile78Ser) c.98T>G (p.Ile33Ser) | |
| 1 | g.229432777A>G | CA345150467 | ACTA1 | c.233T>C (p.Ile78Thr) c.98T>C (p.Ile33Thr) | |
| 1 | g.229432777A>T | CA345150469 | ACTA1 | c.233T>A (p.Ile78Asn) c.98T>A (p.Ile33Asn) | |
| 1 | g.229432778T>A | CA345150470 | ACTA1 | c.232A>T (p.Ile78Phe) c.97A>T (p.Ile33Phe) | |
| 1 | g.229432778T>C | CA345150471 | ACTA1 | c.232A>G (p.Ile78Val) c.97A>G (p.Ile33Val) | |
| 1 | g.229432778T>G | CA345150473 | ACTA1 | c.232A>C (p.Ile78Leu) c.97A>C (p.Ile33Leu) | |
| 1 | g.229432779G>A | CA423755419 | ACTA1 | c.231C>T (p.Ile77=) c.96C>T (p.Ile32=) | |
| 1 | g.229432779G>C | CA345150478 | ACTA1 | c.231C>G (p.Ile77Met) c.96C>G (p.Ile32Met) | |
| 1 | g.229432779G>T | CA423755422 | ACTA1 | c.231C>A (p.Ile77=) c.96C>A (p.Ile32=) | |
| 1 | g.229432780A= | CA1226125960 | ACTA1 | c.230T= (p.Ile77=) c.95T= (p.Ile32=) | |
| 1 | g.229432780A>C | CA345150481 | ACTA1 | c.230T>G (p.Ile77Ser) c.95T>G (p.Ile32Ser) | |
| 1 | g.229432780A>G | CA345150486 | ACTA1 | c.230T>C (p.Ile77Thr) c.95T>C (p.Ile32Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432780A>T | CA345150489 | ACTA1 | c.230T>A (p.Ile77Asn) c.95T>A (p.Ile32Asn) | |
| 1 | g.229432781T>A | CA345150501 | ACTA1 | c.229A>T (p.Ile77Phe) c.94A>T (p.Ile32Phe) | |
| 1 | g.229432781T>C | CA345150497 | ACTA1 | c.229A>G (p.Ile77Val) c.94A>G (p.Ile32Val) | |
| 1 | g.229432781T>G | CA345150495 | ACTA1 | c.229A>C (p.Ile77Leu) c.94A>C (p.Ile32Leu) | |
| 1 | g.229432782G>A | CA423755425 | ACTA1 | c.228C>T (p.Gly76=) c.93C>T (p.Gly31=) | |
| 1 | g.229432782G>C | CA423755427 | ACTA1 | c.228C>G (p.Gly76=) c.93C>G (p.Gly31=) | |
| 1 | g.229432782G= | CA1226125961 | ACTA1 | c.228C= (p.Gly76=) c.93C= (p.Gly31=) | |
| 1 | g.229432782G>T | CA423755426 | ACTA1 | c.228C>A (p.Gly76=) c.93C>A (p.Gly31=) | dbSNP |
| 1 | g.229432783C>A | CA345150503 | ACTA1 | c.227G>T (p.Gly76Val) c.92G>T (p.Gly31Val) | |
| 1 | g.229432783C>G | CA345150505 | ACTA1 | c.227G>C (p.Gly76Ala) c.92G>C (p.Gly31Ala) | |
| 1 | g.229432783C>T | CA345150506 | ACTA1 | c.227G>A (p.Gly76Asp) c.92G>A (p.Gly31Asp) | |
| 1 | g.229432784C>A | CA345150507 | ACTA1 | c.226G>T (p.Gly76Cys) c.91G>T (p.Gly31Cys) | |
| 1 | g.229432784C= | CA1226125962 | ACTA1 | c.226G= (p.Gly76=) c.91G= (p.Gly31=) | |
| 1 | g.229432784C>G | CA345150508 | ACTA1 | c.226G>C (p.Gly76Arg) c.91G>C (p.Gly31Arg) | ClinVar dbSNP |
| 1 | g.229432784C>T | CA345150509 | ACTA1 | c.226G>A (p.Gly76Ser) c.91G>A (p.Gly31Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432785G>A | CA38816562 | ACTA1 | c.225C>T (p.His75=) c.90C>T (p.His30=) | dbSNP gnomAD v4 COSMIC |
| 1 | g.229432785G>C | CA345150511 | ACTA1 | c.225C>G (p.His75Gln) c.90C>G (p.His30Gln) | |
| 1 | g.229432785G= | CA1148084526 | ACTA1 | c.225C= (p.His75=) c.90C= (p.His30=) | |
| 1 | g.229432785G>T | CA345150513 | ACTA1 | c.225C>A (p.His75Gln) c.90C>A (p.His30Gln) | |
| 1 | g.229432786T>A | CA345150516 | ACTA1 | c.224A>T (p.His75Leu) c.89A>T (p.His30Leu) | |
| 1 | g.229432786T>C | CA345150522 | ACTA1 | c.224A>G (p.His75Arg) c.89A>G (p.His30Arg) | |
| 1 | g.229432786T>G | CA345150524 | ACTA1 | c.224A>C (p.His75Pro) c.89A>C (p.His30Pro) | |
| 1 | g.229432787G>A | CA084550 | ACTA1 | c.223C>T (p.His75Tyr) c.88C>T (p.His30Tyr) | dbSNP |
| 1 | g.[229432787G>A;229432788C>A] | CA084623 | ACTA1 | c.[222G>T;223C>T] (p.[Glu74Asp;His75Tyr]) c.[87G>T;88C>T] (p.[Glu29Asp;His30Tyr]) | ClinVar |
| 1 | g.229432787G>C | CA345150528 | ACTA1 | c.223C>G (p.His75Asp) c.88C>G (p.His30Asp) | |
| 1 | g.229432787G= | CA1143538618 | ACTA1 | c.223C= (p.His75=) c.88C= (p.His30=) | |
| 1 | g.229432787G>T | CA38816563 | ACTA1 | c.223C>A (p.His75Asn) c.88C>A (p.His30Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432787_229432788delinsAA | CA2586968418 | ACTA1 | c.222_223delinsTT (p.Glu74_His75delinsAspTyr) c.87_88delinsTT (p.Glu29_His30delinsAspTyr) | |
| 1 | g.229432788C>A | CA084466 | ACTA1 | c.222G>T (p.Glu74Asp) c.87G>T (p.Glu29Asp) | dbSNP |
| 1 | g.229432788C= | CA1143538619 | ACTA1 | c.222G= (p.Glu74=) c.87G= (p.Glu29=) | |
| 1 | g.229432788C>G | CA345150553 | ACTA1 | c.222G>C (p.Glu74Asp) c.87G>C (p.Glu29Asp) | |
| 1 | g.229432788C>T | CA423755437 | ACTA1 | c.222G>A (p.Glu74=) c.87G>A (p.Glu29=) | COSMIC |
| 1 | g.229432789T>A | CA345150560 | ACTA1 | c.221A>T (p.Glu74Val) c.86A>T (p.Glu29Val) | |
| 1 | g.229432789T>C | CA345150573 | ACTA1 | c.221A>G (p.Glu74Gly) c.86A>G (p.Glu29Gly) | |
| 1 | g.229432789T>G | CA345150589 | ACTA1 | c.221A>C (p.Glu74Ala) c.86A>C (p.Glu29Ala) | |
| 1 | g.229432790C>A | CA345150593 | ACTA1 | c.220G>T (p.Glu74Ter) c.85G>T (p.Glu29Ter) | gnomAD v4 |
| 1 | g.229432790C= | CA1148225035 | ACTA1 | c.220G= (p.Glu74=) c.85G= (p.Glu29=) | |
| 1 | g.229432790C>G | CA233443 | ACTA1 | c.220G>C (p.Glu74Gln) c.85G>C (p.Glu29Gln) | ClinVar dbSNP |
| 1 | g.229432790C>T | CA345150600 | ACTA1 | c.220G>A (p.Glu74Lys) c.85G>A (p.Glu29Lys) | |
| 1 | g.229432791G>A | CA423755441 | ACTA1 | c.219C>T (p.Ile73=) c.84C>T (p.Ile28=) | |
| 1 | g.229432791G>C | CA345150605 | ACTA1 | c.219C>G (p.Ile73Met) c.84C>G (p.Ile28Met) | gnomAD v4 COSMIC |
| 1 | g.229432791G>T | CA423755440 | ACTA1 | c.219C>A (p.Ile73=) c.84C>A (p.Ile28=) | dbSNP |
| 1 | g.229432792A= | CA1226125963 | ACTA1 | c.218T= (p.Ile73=) c.83T= (p.Ile28=) | |
| 1 | g.229432792A>C | CA345150606 | ACTA1 | c.218T>G (p.Ile73Ser) c.83T>G (p.Ile28Ser) | ClinVar dbSNP |
| 1 | g.229432792A>G | CA345150607 | ACTA1 | c.218T>C (p.Ile73Thr) c.83T>C (p.Ile28Thr) | |
| 1 | g.229432792A>T | CA345150608 | ACTA1 | c.218T>A (p.Ile73Asn) c.83T>A (p.Ile28Asn) |