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) |