Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229432333G>A | CA345148281 | ACTA1 | c.553C>T (p.Arg185Cys) c.418C>T (p.Arg140Cys) c.479+74C>T (n.479+74C>T) | ClinVar dbSNP |
1 | g.229432333G>C | CA345148282 | ACTA1 | c.553C>G (p.Arg185Gly) c.418C>G (p.Arg140Gly) c.479+74C>G (n.479+74C>G) | |
1 | g.229432333G= | CA1226125747 | ACTA1 | c.553C= (p.Arg185=) c.418C= (p.Arg140=) c.479+74C= (n.479+74C=) | |
1 | g.229432333G>T | CA16617084 | ACTA1 | c.553C>A (p.Arg185Ser) c.418C>A (p.Arg140Ser) c.479+74C>A (n.479+74C>A) | ClinVar dbSNP |
1 | g.229432334G>A | CA423754979 | ACTA1 | c.552C>T (p.Gly184=) c.417C>T (p.Gly139=) c.479+73C>T (n.479+73C>T) | dbSNP |
1 | g.229432334G>C | CA423754980 | ACTA1 | c.552C>G (p.Gly184=) c.417C>G (p.Gly139=) c.479+73C>G (n.479+73C>G) | |
1 | g.229432334G= | CA1226125748 | ACTA1 | c.552C= (p.Gly184=) c.417C= (p.Gly139=) c.479+73C= (n.479+73C=) | |
1 | g.229432334G>T | CA423754982 | ACTA1 | c.552C>A (p.Gly184=) c.417C>A (p.Gly139=) c.479+73C>A (n.479+73C>A) | |
1 | g.229432335C>A | CA345148287 | ACTA1 | c.551G>T (p.Gly184Val) c.416G>T (p.Gly139Val) c.479+72G>T (n.479+72G>T) | |
1 | g.229432335C>G | CA345148298 | ACTA1 | c.551G>C (p.Gly184Ala) c.416G>C (p.Gly139Ala) c.479+72G>C (n.479+72G>C) | |
1 | g.229432335C>T | CA345148301 | ACTA1 | c.551G>A (p.Gly184Asp) c.416G>A (p.Gly139Asp) c.479+72G>A (n.479+72G>A) | ClinVar |
1 | g.229432336C>A | CA345148304 | ACTA1 | c.550G>T (p.Gly184Cys) c.415G>T (p.Gly139Cys) c.479+71G>T (n.479+71G>T) | |
1 | g.229432336C>G | CA345148307 | ACTA1 | c.550G>C (p.Gly184Arg) c.415G>C (p.Gly139Arg) c.479+71G>C (n.479+71G>C) | |
1 | g.229432336C>T | CA345148306 | ACTA1 | c.550G>A (p.Gly184Ser) c.415G>A (p.Gly139Ser) c.479+71G>A (n.479+71G>A) | COSMIC |
1 | g.229432337C>A | CA423754986 | ACTA1 | c.549G>T (p.Ala183=) c.414G>T (p.Ala138=) c.479+70G>T (n.479+70G>T) | dbSNP |
1 | g.229432337C= | CA1143395655 | ACTA1 | c.549G= (p.Ala183=) c.414G= (p.Ala138=) c.479+70G= (n.479+70G=) | |
1 | g.229432337C>G | CA423754987 | ACTA1 | c.549G>C (p.Ala183=) c.414G>C (p.Ala138=) c.479+70G>C (n.479+70G>C) | dbSNP |
1 | g.229432337C>T | CA1442842 | ACTA1 | c.549G>A (p.Ala183=) c.414G>A (p.Ala138=) c.479+70G>A (n.479+70G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432338G>A | CA345148308 | ACTA1 | c.548C>T (p.Ala183Val) c.413C>T (p.Ala138Val) c.479+69C>T (n.479+69C>T) | |
1 | g.229432338G>C | CA345148309 | ACTA1 | c.548C>G (p.Ala183Gly) c.413C>G (p.Ala138Gly) c.479+69C>G (n.479+69C>G) | |
1 | g.229432338G>T | CA345148310 | ACTA1 | c.548C>A (p.Ala183Glu) c.413C>A (p.Ala138Glu) c.479+69C>A (n.479+69C>A) | gnomAD v4 |
1 | g.229432339C>A | CA345148311 | ACTA1 | c.547G>T (p.Ala183Ser) c.412G>T (p.Ala138Ser) c.479+68G>T (n.479+68G>T) | |
1 | g.229432339C>G | CA345148313 | ACTA1 | c.547G>C (p.Ala183Pro) c.412G>C (p.Ala138Pro) c.479+68G>C (n.479+68G>C) | |
1 | g.229432339C>T | CA345148312 | ACTA1 | c.547G>A (p.Ala183Thr) c.412G>A (p.Ala138Thr) c.479+68G>A (n.479+68G>A) | |
1 | g.229432340C>A | CA423754990 | ACTA1 | c.546G>T (p.Leu182=) c.411G>T (p.Leu137=) c.479+67G>T (n.479+67G>T) | dbSNP |
1 | g.229432340C= | CA1143679791 | ACTA1 | c.546G= (p.Leu182=) c.411G= (p.Leu137=) c.479+67G= (n.479+67G=) | |
1 | g.229432340C>G | CA423754991 | ACTA1 | c.546G>C (p.Leu182=) c.411G>C (p.Leu137=) c.479+67G>C (n.479+67G>C) | |
1 | g.229432340C>T | CA1442843 | ACTA1 | c.546G>A (p.Leu182=) c.411G>A (p.Leu137=) c.479+67G>A (n.479+67G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432341A>C | CA345148316 | ACTA1 | c.545T>G (p.Leu182Arg) c.410T>G (p.Leu137Arg) c.479+66T>G (n.479+66T>G) | |
1 | g.229432341A>G | CA345148314 | ACTA1 | c.545T>C (p.Leu182Pro) c.410T>C (p.Leu137Pro) c.479+66T>C (n.479+66T>C) | |
1 | g.229432341A>T | CA345148315 | ACTA1 | c.545T>A (p.Leu182Gln) c.410T>A (p.Leu137Gln) c.479+66T>A (n.479+66T>A) | |
1 | g.229432342G>A | CA423754995 | ACTA1 | c.544C>T (p.Leu182=) c.409C>T (p.Leu137=) c.479+65C>T (n.479+65C>T) | |
1 | g.229432342G>C | CA1442844 | ACTA1 | c.544C>G (p.Leu182Val) c.409C>G (p.Leu137Val) c.479+65C>G (n.479+65C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432342G= | CA1226125749 | ACTA1 | c.544C= (p.Leu182=) c.409C= (p.Leu137=) c.479+65C= (n.479+65C=) | |
1 | g.229432342G>T | CA345148317 | ACTA1 | c.544C>A (p.Leu182Met) c.409C>A (p.Leu137Met) c.479+65C>A (n.479+65C>A) | |
1 | g.229432343G>A | CA423754998 | ACTA1 | c.543C>T (p.Asp181=) c.408C>T (p.Asp136=) c.479+64C>T (n.479+64C>T) | COSMIC |
1 | g.229432343G>C | CA345148318 | ACTA1 | c.543C>G (p.Asp181Glu) c.408C>G (p.Asp136Glu) c.479+64C>G (n.479+64C>G) | |
1 | g.229432343G>T | CA345148319 | ACTA1 | c.543C>A (p.Asp181Glu) c.408C>A (p.Asp136Glu) c.479+64C>A (n.479+64C>A) | COSMIC |
1 | g.229432344T>A | CA345148320 | ACTA1 | c.542A>T (p.Asp181Val) c.407A>T (p.Asp136Val) c.479+63A>T (n.479+63A>T) | |
1 | g.229432344T>C | CA345148321 | ACTA1 | c.542A>G (p.Asp181Gly) c.407A>G (p.Asp136Gly) c.479+63A>G (n.479+63A>G) | |
1 | g.229432344T>G | CA345148322 | ACTA1 | c.542A>C (p.Asp181Ala) c.407A>C (p.Asp136Ala) c.479+63A>C (n.479+63A>C) | |
1 | g.229432344_229432345delinsTC | CA1226125750 | ACTA1 | c.541_542delinsGA (p.Asp181=) c.406_407delinsGA (p.Asp136=) c.479+62_479+63delinsGA (n.479+62_479+63delinsGA) | |
1 | g.229432345C>A | CA345148323 | ACTA1 | c.541G>T (p.Asp181Tyr) c.406G>T (p.Asp136Tyr) c.479+62G>T (n.479+62G>T) | |
1 | g.229432345C>G | CA345148324 | ACTA1 | c.541G>C (p.Asp181His) c.406G>C (p.Asp136His) c.479+62G>C (n.479+62G>C) | ClinVar |
1 | g.229432345C>T | CA345148325 | ACTA1 | c.541G>A (p.Asp181Asn) c.406G>A (p.Asp136Asn) c.479+62G>A (n.479+62G>A) | COSMIC |
1 | g.229432346del | CA1442845 | ACTA1 | c.541del (p.Asp181ThrfsTer11) c.406del (p.Asp136ThrfsTer11) c.479+62del (n.479+62del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432346C>A | CA423755009 | ACTA1 | c.540G>T (p.Leu180=) c.405G>T (p.Leu135=) c.479+61G>T (n.479+61G>T) | |
1 | g.229432346C>G | CA423755007 | ACTA1 | c.540G>C (p.Leu180=) c.405G>C (p.Leu135=) c.479+61G>C (n.479+61G>C) | |
1 | g.229432346C>T | CA423755005 | ACTA1 | c.540G>A (p.Leu180=) c.405G>A (p.Leu135=) c.479+61G>A (n.479+61G>A) | dbSNP |
1 | g.229432347A= | CA1226125751 | ACTA1 | c.539T= (p.Leu180=) c.404T= (p.Leu135=) c.479+60T= (n.479+60T=) |