Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229431436A>T | CA2650926558 | ACTA1 | c.*63T>A (n.*63T>A) | gnomAD v4 |
1 | g.229431438C>A | CA2650926559 | ACTA1 | c.*61G>T (n.*61G>T) | gnomAD v4 |
1 | g.229431438C>T | CA2574151176 | ACTA1 | c.*61G>A (n.*61G>A) | |
1 | g.229431439C= | CA1226125312 | ACTA1 | c.*60G= (n.*60G=) | |
1 | g.229431439C>T | CA1226125313 | ACTA1 | c.*60G>A (n.*60G>A) | dbSNP |
1 | g.229431440G>A | CA2574151178 | ACTA1 | c.*59C>T (n.*59C>T) | gnomAD v4 |
1 | g.229431440G= | CA1226125316 | ACTA1 | c.*59C= (n.*59C=) | |
1 | g.229431440G>T | CA1226125315 | ACTA1 | c.*59C>A (n.*59C>A) | dbSNP gnomAD v4 |
1 | g.229431440_229431443delinsGCCC | CA1226125314 | ACTA1 | c.*56_*59delinsGGGC (n.*56_*59delinsGGGC) | |
1 | g.229431441C= | CA1226125318 | ACTA1 | c.*58G= (n.*58G=) | |
1 | g.229431441C>G | CA529915220 | ACTA1 | c.*58G>C (n.*58G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431441C>T | CA732579127 | ACTA1 | c.*58G>A (n.*58G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431441_229431447delinsCCCCCCC | CA1142265291 | ACTA1 | c.*52_*58delinsGGGGGGG (n.*52_*58delinsGGGGGGG) | |
1 | g.229431447dup | CA38814565 | ACTA1 | c.*58dup (n.*58dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431445_229431447dup | CA2748054867 | ACTA1 | c.*56_*58dup (n.*56_*58dup) | |
1 | g.229431447del | CA732579131 | ACTA1 | c.*58del (n.*58del) | dbSNP gnomAD v4 |
1 | g.229431445_229431447del | CA1226125317 | ACTA1 | c.*56_*58del (n.*56_*58del) | dbSNP gnomAD v4 |
1 | g.229431442C>A | CA732579134 | ACTA1 | c.*57G>T (n.*57G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431442C= | CA1226125319 | ACTA1 | c.*57G= (n.*57G=) | |
1 | g.229431442C>G | CA2650926560 | ACTA1 | c.*57G>C (n.*57G>C) | gnomAD v4 |
1 | g.229431443C>A | CA2574151186 | ACTA1 | c.*56G>T (n.*56G>T) | |
1 | g.229431443C= | CA1226125320 | ACTA1 | c.*56G= (n.*56G=) | |
1 | g.229431443C>G | CA1226125321 | ACTA1 | c.*56G>C (n.*56G>C) | dbSNP |
1 | g.229431443C>T | CA529915221 | ACTA1 | c.*56G>A (n.*56G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431444C= | CA1226125322 | ACTA1 | c.*55G= (n.*55G=) | |
1 | g.229431444C>T | CA732579136 | ACTA1 | c.*55G>A (n.*55G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431445C>A | CA732579140 | ACTA1 | c.*54G>T (n.*54G>T) | dbSNP gnomAD v4 |
1 | g.229431445C= | CA1226125323 | ACTA1 | c.*54G= (n.*54G=) | |
1 | g.229431445C>G | CA732579139 | ACTA1 | c.*54G>C (n.*54G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431445C>T | CA2650926561 | ACTA1 | c.*54G>A (n.*54G>A) | gnomAD v4 |
1 | g.229431446C>A | CA732579147 | ACTA1 | c.*53G>T (n.*53G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431446C= | CA1226125324 | ACTA1 | c.*53G= (n.*53G=) | |
1 | g.229431446C>G | CA38814570 | ACTA1 | c.*53G>C (n.*53G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431446C>T | CA38814579 | ACTA1 | c.*53G>A (n.*53G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431447C>A | CA2574151187 | ACTA1 | c.*52G>T (n.*52G>T) | |
1 | g.229431447C= | CA1226125325 | ACTA1 | c.*52G= (n.*52G=) | |
1 | g.229431447C>G | CA2538790966 | ACTA1 | c.*52G>C (n.*52G>C) | gnomAD v4 |
1 | g.229431447C>T | CA1226125326 | ACTA1 | c.*52G>A (n.*52G>A) | dbSNP gnomAD v4 |
1 | g.229431448A= | CA1226125327 | ACTA1 | c.*51T= (n.*51T=) | |
1 | g.229431448A>C | CA1226125328 | ACTA1 | c.*51T>G (n.*51T>G) | dbSNP |
1 | g.229431448dup | CA2650926562 | ACTA1 | c.*51dup (n.*51dup) | gnomAD v4 |
1 | g.229431449T>C | CA529915222 | ACTA1 | c.*50A>G (n.*50A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431449T>G | CA2650926563 | ACTA1 | c.*50A>C (n.*50A>C) | gnomAD v4 |
1 | g.229431449T= | CA1226125329 | ACTA1 | c.*50A= (n.*50A=) | |
1 | g.229431453G>C | CA529915223 | ACTA1 | c.*46C>G (n.*46C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431453G= | CA1226125330 | ACTA1 | c.*46C= (n.*46C=) | |
1 | g.229431454A= | CA1226125331 | ACTA1 | c.*45T= (n.*45T=) | |
1 | g.229431454A>C | CA1226125332 | ACTA1 | c.*45T>G (n.*45T>G) | dbSNP |
1 | g.229431454A>G | CA2748054869 | ACTA1 | c.*45T>C (n.*45T>C) | |
1 | g.229431460C>A | CA529915224 | ACTA1 | c.*39G>T (n.*39G>T) | dbSNP gnomAD v2 gnomAD v4 |