Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6036388C>ACA6403043VWFc.2546G>T (p.Cys849Phe)
n.421-42454G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6036388C=CA2013880908VWFc.2546G= (p.Cys849=)
n.421-42454G=
12g.6036388C>GCA383520271VWFc.2546G>C (p.Cys849Ser)
n.421-42454G>C
12g.6036388C>TCA383520272VWFc.2546G>A (p.Cys849Tyr)
n.421-42454G>A
ClinVar dbSNP
12g.6036389A>CCA383520273VWFc.2545T>G (p.Cys849Gly)
n.421-42455T>G
12g.6036389A>GCA383520274VWFc.2545T>C (p.Cys849Arg)
n.421-42455T>C
12g.6036389A>TCA383520275VWFc.2545T>A (p.Cys849Ser)
n.421-42455T>A
12g.6036390delCA2695215958VWFc.2545del (p.Cys849ValfsTer?)
n.421-42455del
12g.6036390A=CA2013880909VWFc.2544T= (p.Thr848=)
n.421-42456T=
12g.6036390A>CCA478103075VWFc.2544T>G (p.Thr848=)
n.421-42456T>G
12g.6036390A>GCA478103076VWFc.2544T>C (p.Thr848=)
n.421-42456T>C
dbSNP gnomAD v4
12g.6036390A>TCA478103077VWFc.2544T>A (p.Thr848=)
n.421-42456T>A
12g.6036391G>ACA383520276VWFc.2543C>T (p.Thr848Ile)
n.421-42457C>T
12g.6036391G>CCA383520277VWFc.2543C>G (p.Thr848Ser)
n.421-42457C>G
12g.6036391G>TCA383520278VWFc.2543C>A (p.Thr848Asn)
n.421-42457C>A
12g.6036392T>ACA383520279VWFc.2542A>T (p.Thr848Ser)
n.421-42458A>T
12g.6036392T>CCA383520280VWFc.2542A>G (p.Thr848Ala)
n.421-42458A>G
12g.6036392T>GCA383520281VWFc.2542A>C (p.Thr848Pro)
n.421-42458A>C
gnomAD v4
12g.6036393G>ACA478103078VWFc.2541C>T (p.Asn847=)
n.421-42459C>T
gnomAD v4
12g.6036393G>CCA383520282VWFc.2541C>G (p.Asn847Lys)
n.421-42459C>G
12g.6036393G=CA2013880910VWFc.2541C= (p.Asn847=)
n.421-42459C=
12g.6036393G>TCA383520283VWFc.2541C>A (p.Asn847Lys)
n.421-42459C>A
12g.6036394T>ACA383520284VWFc.2540A>T (p.Asn847Ile)
n.421-42460A>T
12g.6036394T>CCA6403044VWFc.2540A>G (p.Asn847Ser)
n.421-42460A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.6036394T>GCA383520285VWFc.2540A>C (p.Asn847Thr)
n.421-42460A>C
12g.6036394T=CA2013880911VWFc.2540A= (p.Asn847=)
n.421-42460A=
12g.6036395dupCA228350VWFc.2540dup (p.Asn847LysfsTer18)
n.421-42460dup
ClinVar dbSNP
12g.6036395T>ACA383520286VWFc.2539A>T (p.Asn847Tyr)
n.421-42461A>T
12g.6036395T>CCA383520287VWFc.2539A>G (p.Asn847Asp)
n.421-42461A>G
12g.6036395T>GCA383520288VWFc.2539A>C (p.Asn847His)
n.421-42461A>C
12g.6036396G>ACA478103083VWFc.2538C>T (p.Cys846=)
n.421-42462C>T
12g.6036396G>CCA383520289VWFc.2538C>G (p.Cys846Trp)
n.421-42462C>G
12g.6036396G>TCA383520290VWFc.2538C>A (p.Cys846Ter)
n.421-42462C>A
12g.6036397C>ACA383520291VWFc.2537G>T (p.Cys846Phe)
n.421-42463G>T
gnomAD v4
12g.6036397C>GCA383520292VWFc.2537G>C (p.Cys846Ser)
n.421-42463G>C
12g.6036397C>TCA383520293VWFc.2537G>A (p.Cys846Tyr)
n.421-42463G>A
12g.6036398A=CA2013880912VWFc.2536T= (p.Cys846=)
n.421-42464T=
12g.6036398A>CCA6403045VWFc.2536T>G (p.Cys846Gly)
n.421-42464T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6036398A>GCA383520295VWFc.2536T>C (p.Cys846Arg)
n.421-42464T>C
gnomAD v4
12g.6036398A>TCA383520294VWFc.2536T>A (p.Cys846Ser)
n.421-42464T>A
gnomAD v4
12g.6036399G>ACA232299460VWFc.2535C>T (p.Gly845=)
n.421-42465C>T
dbSNP gnomAD v4
12g.6036399G>CCA478103088VWFc.2535C>G (p.Gly845=)
n.421-42465C>G
12g.6036399G=CA2013880913VWFc.2535C= (p.Gly845=)
n.421-42465C=
12g.6036399G>TCA478103089VWFc.2535C>A (p.Gly845=)
n.421-42465C>A
12g.6036400C>ACA383520298VWFc.2534G>T (p.Gly845Val)
n.421-42466G>T
12g.6036400C=CA2013880914VWFc.2534G= (p.Gly845=)
n.421-42466G=
12g.6036400C>GCA383520296VWFc.2534G>C (p.Gly845Ala)
n.421-42466G>C
12g.6036400C>TCA383520297VWFc.2534G>A (p.Gly845Asp)
n.421-42466G>A
dbSNP gnomAD v2
12g.6036401C>ACA383520299VWFc.2533G>T (p.Gly845Cys)
n.421-42467G>T
12g.6036401C>GCA383520300VWFc.2533G>C (p.Gly845Arg)
n.421-42467G>C

Number of alleles fetched