Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51955265_51955288dupCA689769695ACVR1Bc.91+3431_91+3454dup (p.=)
n.91+3431_91+3454dup (p.=)
c.-198+3431_-198+3454dup (p.=)
c.-66+1766_-66+1789dup (p.=)
dbSNP
12g.51955287delCA689769707ACVR1Bc.91+3453del (p.=)
n.91+3453del (p.=)
c.-198+3453del (p.=)
c.-66+1788del (p.=)
dbSNP
12g.51955287C>ACA2036270376ACVR1Bc.91+3453C>A (p.=)
n.91+3453C>A (p.=)
c.-198+3453C>A (p.=)
c.-66+1788C>A (p.=)
12g.51955287C=CA2036270375ACVR1Bc.91+3453C= (p.=)
n.91+3453C= (p.=)
c.-198+3453C= (p.=)
c.-66+1788C= (p.=)
12g.51955287C>GCA13667473ACVR1Bc.91+3453C>G (p.=)
n.91+3453C>G (p.=)
c.-198+3453C>G (p.=)
c.-66+1788C>G (p.=)
dbSNP gnomAD
12g.51955287_51955288insGGGGGGGGGGGGGGGGGGGCA947669872ACVR1Bc.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG (p.=)
n.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG (p.=)
c.-198+3453_-198+3454insGGGGGGGGGGGGGGGGGGG (p.=)
c.-66+1788_-66+1789insGGGGGGGGGGGGGGGGGGG (p.=)
12g.51955291T>GCA2036270381ACVR1Bc.91+3457T>G (p.=)
n.91+3457T>G (p.=)
c.-198+3457T>G (p.=)
c.-66+1792T>G (p.=)
12g.51955291T=CA2036270380ACVR1Bc.91+3457T= (p.=)
n.91+3457T= (p.=)
c.-198+3457T= (p.=)
c.-66+1792T= (p.=)
12g.51955296T>CCA947669877ACVR1Bc.91+3462T>C (p.=)
n.91+3462T>C (p.=)
c.-198+3462T>C (p.=)
c.-66+1797T>C (p.=)
12g.51955296T=CA2036270382ACVR1Bc.91+3462T= (p.=)
n.91+3462T= (p.=)
c.-198+3462T= (p.=)
c.-66+1797T= (p.=)
12g.51955301A=CA2036270386ACVR1Bc.91+3467A= (p.=)
n.91+3467A= (p.=)
c.-198+3467A= (p.=)
c.-66+1802A= (p.=)
12g.51955301A>GCA689769710ACVR1Bc.91+3467A>G (p.=)
n.91+3467A>G (p.=)
c.-198+3467A>G (p.=)
c.-66+1802A>G (p.=)
12g.51955301A>TCA236335734ACVR1Bc.91+3467A>T (p.=)
n.91+3467A>T (p.=)
c.-198+3467A>T (p.=)
c.-66+1802A>T (p.=)
dbSNP
12g.51955304T>CCA13774741ACVR1Bc.91+3470T>C (p.=)
n.91+3470T>C (p.=)
c.-198+3470T>C (p.=)
c.-66+1805T>C (p.=)
dbSNP gnomAD
12g.51955304T>GCA654740734ACVR1Bc.91+3470T>G (p.=)
n.91+3470T>G (p.=)
c.-198+3470T>G (p.=)
c.-66+1805T>G (p.=)
COSMIC
12g.51955304T=CA2036270389ACVR1Bc.91+3470T= (p.=)
n.91+3470T= (p.=)
c.-198+3470T= (p.=)
c.-66+1805T= (p.=)
12g.51955307T>CCA2036270395ACVR1Bc.91+3473T>C (p.=)
n.91+3473T>C (p.=)
c.-198+3473T>C (p.=)
c.-66+1808T>C (p.=)
12g.51955307T=CA2036270392ACVR1Bc.91+3473T= (p.=)
n.91+3473T= (p.=)
c.-198+3473T= (p.=)
c.-66+1808T= (p.=)
12g.51955310A=CA2036270401ACVR1Bc.91+3476A= (p.=)
n.91+3476A= (p.=)
c.-198+3476A= (p.=)
c.-66+1811A= (p.=)
12g.51955310A>GCA2036270403ACVR1Bc.91+3476A>G (p.=)
n.91+3476A>G (p.=)
c.-198+3476A>G (p.=)
c.-66+1811A>G (p.=)
12g.51955313T>GCA947669885ACVR1Bc.91+3479T>G (p.=)
n.91+3479T>G (p.=)
c.-198+3479T>G (p.=)
c.-66+1814T>G (p.=)
12g.51955313T=CA2036270407ACVR1Bc.91+3479T= (p.=)
n.91+3479T= (p.=)
c.-198+3479T= (p.=)
c.-66+1814T= (p.=)
12g.51955317C=CA2036270411ACVR1Bc.91+3483C= (p.=)
n.91+3483C= (p.=)
c.-198+3483C= (p.=)
c.-66+1818C= (p.=)
12g.51955317C>TCA236335753ACVR1Bc.91+3483C>T (p.=)
n.91+3483C>T (p.=)
c.-198+3483C>T (p.=)
c.-66+1818C>T (p.=)
dbSNP
12g.51955319G>CCA2036270413ACVR1Bc.91+3485G>C (p.=)
n.91+3485G>C (p.=)
c.-198+3485G>C (p.=)
c.-66+1820G>C (p.=)
12g.51955319G=CA2036270412ACVR1Bc.91+3485G= (p.=)
n.91+3485G= (p.=)
c.-198+3485G= (p.=)
c.-66+1820G= (p.=)
12g.51955327A=CA2036270415ACVR1Bc.91+3493A= (p.=)
n.91+3493A= (p.=)
c.-198+3493A= (p.=)
c.-66+1828A= (p.=)
12g.51955327A>GCA689769713ACVR1Bc.91+3493A>G (p.=)
n.91+3493A>G (p.=)
c.-198+3493A>G (p.=)
c.-66+1828A>G (p.=)
12g.51955334G>ACA2036270423ACVR1Bc.91+3500G>A (p.=)
n.91+3500G>A (p.=)
c.-198+3500G>A (p.=)
c.-66+1835G>A (p.=)
12g.51955334G=CA2036270422ACVR1Bc.91+3500G= (p.=)
n.91+3500G= (p.=)
c.-198+3500G= (p.=)
c.-66+1835G= (p.=)
12g.51955346A=CA2036270426ACVR1Bc.91+3512A= (p.=)
n.91+3512A= (p.=)
c.-198+3512A= (p.=)
c.-66+1847A= (p.=)
12g.51955346A>GCA2036270427ACVR1Bc.91+3512A>G (p.=)
n.91+3512A>G (p.=)
c.-198+3512A>G (p.=)
c.-66+1847A>G (p.=)
12g.51955347C=CA2036270428ACVR1Bc.91+3513C= (p.=)
n.91+3513C= (p.=)
c.-198+3513C= (p.=)
c.-66+1848C= (p.=)
12g.51955347C>GCA2036270429ACVR1Bc.91+3513C>G (p.=)
n.91+3513C>G (p.=)
c.-198+3513C>G (p.=)
c.-66+1848C>G (p.=)
12g.51955348C=CA2036270432ACVR1Bc.91+3514C= (p.=)
n.91+3514C= (p.=)
c.-198+3514C= (p.=)
c.-66+1849C= (p.=)
12g.51955348C>TCA236335754ACVR1Bc.91+3514C>T (p.=)
n.91+3514C>T (p.=)
c.-198+3514C>T (p.=)
c.-66+1849C>T (p.=)
dbSNP gnomAD
12g.51955349G>ACA689769715ACVR1Bc.91+3515G>A (p.=)
n.91+3515G>A (p.=)
c.-198+3515G>A (p.=)
c.-66+1850G>A (p.=)
12g.51955349G=CA2036270438ACVR1Bc.91+3515G= (p.=)
n.91+3515G= (p.=)
c.-198+3515G= (p.=)
c.-66+1850G= (p.=)
12g.51955358A=CA2036270442ACVR1Bc.91+3524A= (p.=)
n.91+3524A= (p.=)
c.-198+3524A= (p.=)
c.-66+1859A= (p.=)
12g.51955358A>GCA947669890ACVR1Bc.91+3524A>G (p.=)
n.91+3524A>G (p.=)
c.-198+3524A>G (p.=)
c.-66+1859A>G (p.=)
12g.51955359T>CCA689769716ACVR1Bc.91+3525T>C (p.=)
n.91+3525T>C (p.=)
c.-198+3525T>C (p.=)
c.-66+1860T>C (p.=)
12g.51955359T=CA2036270450ACVR1Bc.91+3525T= (p.=)
n.91+3525T= (p.=)
c.-198+3525T= (p.=)
c.-66+1860T= (p.=)
12g.51955361G>CCA689769717ACVR1Bc.91+3527G>C (p.=)
n.91+3527G>C (p.=)
c.-198+3527G>C (p.=)
c.-66+1862G>C (p.=)
12g.51955361G=CA2036270454ACVR1Bc.91+3527G= (p.=)
n.91+3527G= (p.=)
c.-198+3527G= (p.=)
c.-66+1862G= (p.=)
12g.51955361G>TCA947669892ACVR1Bc.91+3527G>T (p.=)
n.91+3527G>T (p.=)
c.-198+3527G>T (p.=)
c.-66+1862G>T (p.=)
12g.51955362T>CCA2036270457ACVR1Bc.91+3528T>C (p.=)
n.91+3528T>C (p.=)
c.-198+3528T>C (p.=)
c.-66+1863T>C (p.=)
12g.51955362T=CA2036270456ACVR1Bc.91+3528T= (p.=)
n.91+3528T= (p.=)
c.-198+3528T= (p.=)
c.-66+1863T= (p.=)
12g.51955365C>ACA689769718ACVR1Bc.91+3531C>A (p.=)
n.91+3531C>A (p.=)
c.-198+3531C>A (p.=)
c.-66+1866C>A (p.=)
12g.51955365C=CA2036270459ACVR1Bc.91+3531C= (p.=)
n.91+3531C= (p.=)
c.-198+3531C= (p.=)
c.-66+1866C= (p.=)
12g.51955366C>ACA2036270467ACVR1Bc.91+3532C>A (p.=)
n.91+3532C>A (p.=)
c.-198+3532C>A (p.=)
c.-66+1867C>A (p.=)

Number of alleles fetched