Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432189_229432272delCA529915257ACTA1c.616+1_617-1del
c.481+1_482-1del
c.479+138_479+221del (n.479+138_479+221del)
 gnomAD v2 gnomAD v4
1g.229432251dupCA2962417007ACTA1c.616+22dup (n.616+22dup)
c.481+22dup (n.481+22dup)
c.479+159dup (n.479+159dup)
1g.229432251delCA38815807ACTA1c.616+22del (n.616+22del)
c.481+22del (n.481+22del)
c.479+159del (n.479+159del)
 dbSNP gnomAD v3 gnomAD v4
1g.229432250G>ACA1442832ACTA1c.616+20C>T (n.616+20C>T)
c.481+20C>T (n.481+20C>T)
c.479+157C>T (n.479+157C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432250G=CA1143435118ACTA1c.616+20C= (n.616+20C=)
c.481+20C= (n.481+20C=)
c.479+157C= (n.479+157C=)
1g.229432250G>TCA1442831ACTA1c.616+20C>A (n.616+20C>A)
c.481+20C>A (n.481+20C>A)
c.479+157C>A (n.479+157C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432250_229432251insCGGGACA2962417009ACTA1c.616+19_616+20insTCCCG (n.616+19_616+20insTCCCG)
c.481+19_481+20insTCCCG (n.481+19_481+20insTCCCG)
c.479+156_479+157insTCCCG (n.479+156_479+157insTCCCG)
1g.229432250_229432251insCGCCCCTGCACCCCGGGCGGGAGGGCCGGCCA2962417010ACTA1c.616+19_616+20insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG (n.616+19_616+20insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG)
c.481+19_481+20insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG (n.481+19_481+20insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG)
c.479+156_479+157insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG (n.479+156_479+157insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG)
1g.229432251G>ACA1442834ACTA1c.616+19C>T (n.616+19C>T)
c.481+19C>T (n.481+19C>T)
c.479+156C>T (n.479+156C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432251G>CCA2962417011ACTA1c.616+19C>G (n.616+19C>G)
c.481+19C>G (n.481+19C>G)
c.479+156C>G (n.479+156C>G)
1g.229432251G=CA1143985899ACTA1c.616+19C= (n.616+19C=)
c.481+19C= (n.481+19C=)
c.479+156C= (n.479+156C=)
1g.229432251G>TCA1442833ACTA1c.616+19C>A (n.616+19C>A)
c.481+19C>A (n.481+19C>A)
c.479+156C>A (n.479+156C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432252T>ACA529915278ACTA1c.616+18A>T (n.616+18A>T)
c.481+18A>T (n.481+18A>T)
c.479+155A>T (n.479+155A>T)
 dbSNP gnomAD v2 gnomAD v4
1g.229432252T>CCA2962417013ACTA1c.616+18A>G (n.616+18A>G)
c.481+18A>G (n.481+18A>G)
c.479+155A>G (n.479+155A>G)
1g.229432252T>GCA2962417012ACTA1c.616+18A>C (n.616+18A>C)
c.481+18A>C (n.481+18A>C)
c.479+155A>C (n.479+155A>C)
1g.229432252T=CA1226125710ACTA1c.616+18A= (n.616+18A=)
c.481+18A= (n.481+18A=)
c.479+155A= (n.479+155A=)
1g.229432253G>ACA2574151299ACTA1c.616+17C>T (n.616+17C>T)
c.481+17C>T (n.481+17C>T)
c.479+154C>T (n.479+154C>T)
1g.229432254delCA2698260209ACTA1c.616+16del (n.616+16del)
c.481+16del (n.481+16del)
c.479+153del (n.479+153del)
 dbSNP
1g.229432254C>ACA2962417014ACTA1c.616+16G>T (n.616+16G>T)
c.481+16G>T (n.481+16G>T)
c.479+153G>T (n.479+153G>T)
1g.229432254C>GCA2962417015ACTA1c.616+16G>C (n.616+16G>C)
c.481+16G>C (n.481+16G>C)
c.479+153G>C (n.479+153G>C)
1g.229432254C>TCA2962417016ACTA1c.616+16G>A (n.616+16G>A)
c.481+16G>A (n.481+16G>A)
c.479+153G>A (n.479+153G>A)
1g.229432255A>CCA2650926667ACTA1c.616+15T>G (n.616+15T>G)
c.481+15T>G (n.481+15T>G)
c.479+152T>G (n.479+152T>G)
 gnomAD v4
1g.229432255A>GCA2962417017ACTA1c.616+15T>C (n.616+15T>C)
c.481+15T>C (n.481+15T>C)
c.479+152T>C (n.479+152T>C)
1g.229432256G>ACA529915279ACTA1c.616+14C>T (n.616+14C>T)
c.481+14C>T (n.481+14C>T)
c.479+151C>T (n.479+151C>T)
 dbSNP gnomAD v2
1g.229432256G=CA1226125711ACTA1c.616+14C= (n.616+14C=)
c.481+14C= (n.481+14C=)
c.479+151C= (n.479+151C=)
1g.229432256G>TCA2838527226ACTA1c.616+14C>A (n.616+14C>A)
c.481+14C>A (n.481+14C>A)
c.479+151C>A (n.479+151C>A)
1g.229432259dupCA2962417018ACTA1c.616+14dup (n.616+14dup)
c.481+14dup (n.481+14dup)
c.479+151dup (n.479+151dup)
1g.229432259delCA2962417019ACTA1c.616+14del (n.616+14del)
c.481+14del (n.481+14del)
c.479+151del (n.479+151del)
1g.229432256_229432267delCA2698260213ACTA1c.616+3_616+14del (n.616+3_616+14del)
c.481+3_481+14del (n.481+3_481+14del)
c.479+140_479+151del (n.479+140_479+151del)
 dbSNP
1g.229432257G>ACA1442835ACTA1c.616+13C>T (n.616+13C>T)
c.481+13C>T (n.481+13C>T)
c.479+150C>T (n.479+150C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432257G>CCA2574151301ACTA1c.616+13C>G (n.616+13C>G)
c.481+13C>G (n.481+13C>G)
c.479+150C>G (n.479+150C>G)
1g.229432257G=CA1144181480ACTA1c.616+13C= (n.616+13C=)
c.481+13C= (n.481+13C=)
c.479+150C= (n.479+150C=)
1g.229432257G>TCA2574151303ACTA1c.616+13C>A (n.616+13C>A)
c.481+13C>A (n.481+13C>A)
c.479+150C>A (n.479+150C>A)
1g.229432258G>ACA529915280ACTA1c.616+12C>T (n.616+12C>T)
c.481+12C>T (n.481+12C>T)
c.479+149C>T (n.479+149C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.229432258G=CA1226125712ACTA1c.616+12C= (n.616+12C=)
c.481+12C= (n.481+12C=)
c.479+149C= (n.479+149C=)
1g.229432258G>TCA2574151305ACTA1c.616+12C>A (n.616+12C>A)
c.481+12C>A (n.481+12C>A)
c.479+149C>A (n.479+149C>A)
 gnomAD v4
1g.229432259G>ACA2650926668ACTA1c.616+11C>T (n.616+11C>T)
c.481+11C>T (n.481+11C>T)
c.479+148C>T (n.479+148C>T)
 gnomAD v4
1g.229432259G>TCA2962417020ACTA1c.616+11C>A (n.616+11C>A)
c.481+11C>A (n.481+11C>A)
c.479+148C>A (n.479+148C>A)
1g.229432260C>ACA1226125714ACTA1c.616+10G>T (n.616+10G>T)
c.481+10G>T (n.481+10G>T)
c.479+147G>T (n.479+147G>T)
 dbSNP gnomAD v4
1g.229432260C=CA1226125713ACTA1c.616+10G= (n.616+10G=)
c.481+10G= (n.481+10G=)
c.479+147G= (n.479+147G=)
1g.229432260C>TCA2650926669ACTA1c.616+10G>A (n.616+10G>A)
c.481+10G>A (n.481+10G>A)
c.479+147G>A (n.479+147G>A)
 gnomAD v4
1g.229432261G>ACA2650926670ACTA1c.616+9C>T (n.616+9C>T)
c.481+9C>T (n.481+9C>T)
c.479+146C>T (n.479+146C>T)
 ClinVar gnomAD v4
1g.229432261G=CA1226125715ACTA1c.616+9C= (n.616+9C=)
c.481+9C= (n.481+9C=)
c.479+146C= (n.479+146C=)
1g.229432261G>TCA1013145475ACTA1c.616+9C>A (n.616+9C>A)
c.481+9C>A (n.481+9C>A)
c.479+146C>A (n.479+146C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.229432263C>ACA2607340884ACTA1c.616+7G>T (n.616+7G>T)
c.481+7G>T (n.481+7G>T)
c.479+144G>T (n.479+144G>T)
 gnomAD v3 gnomAD v4
1g.229432263C=CA1226125716ACTA1c.616+7G= (n.616+7G=)
c.481+7G= (n.481+7G=)
c.479+144G= (n.479+144G=)
1g.229432263C>GCA529915281ACTA1c.616+7G>C (n.616+7G>C)
c.481+7G>C (n.481+7G>C)
c.479+144G>C (n.479+144G>C)
 dbSNP gnomAD v2 gnomAD v4
1g.229432263C>TCA1442836ACTA1c.616+7G>A (n.616+7G>A)
c.481+7G>A (n.481+7G>A)
c.479+144G>A (n.479+144G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432264G>ACA2962417022ACTA1c.616+6C>T (n.616+6C>T)
c.481+6C>T (n.481+6C>T)
c.479+143C>T (n.479+143C>T)
1g.229432264dupCA2962417021ACTA1c.616+6dup (n.616+6dup)
c.481+6dup (n.481+6dup)
c.479+143dup (n.479+143dup)

Number of alleles fetched