Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6016197A=CA2013871502VWFc.5347T= (p.Ser1783=)
n.421-22263T=
12g.6016197A>CCA228715VWFc.5347T>G (p.Ser1783Ala)
n.421-22263T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6016197A>GCA383495593VWFc.5347T>C (p.Ser1783Pro)
n.421-22263T>C
12g.6016197A>TCA383495595VWFc.5347T>A (p.Ser1783Thr)
n.421-22263T>A
12g.6016198A>CCA478100747VWFc.5346T>G (p.Thr1782=)
n.421-22264T>G
12g.6016198A>GCA478100751VWFc.5346T>C (p.Thr1782=)
n.421-22264T>C
12g.6016198A>TCA478100748VWFc.5346T>A (p.Thr1782=)
n.421-22264T>A
12g.6016199G>ACA383495598VWFc.5345C>T (p.Thr1782Ile)
n.421-22265C>T
12g.6016199G>CCA383495600VWFc.5345C>G (p.Thr1782Ser)
n.421-22265C>G
12g.6016199G>TCA383495604VWFc.5345C>A (p.Thr1782Asn)
n.421-22265C>A
12g.6016200T>ACA383495608VWFc.5344A>T (p.Thr1782Ser)
n.421-22266A>T
12g.6016200T>CCA383495611VWFc.5344A>G (p.Thr1782Ala)
n.421-22266A>G
gnomAD v4
12g.6016200T>GCA383495614VWFc.5344A>C (p.Thr1782Pro)
n.421-22266A>C
12g.6016201C>ACA383495617VWFc.5343G>T (p.Leu1781Phe)
n.421-22267G>T
12g.6016201C>GCA383495620VWFc.5343G>C (p.Leu1781Phe)
n.421-22267G>C
12g.6016201C>TCA478100753VWFc.5343G>A (p.Leu1781=)
n.421-22267G>A
12g.6016202A=CA2013871503VWFc.5342T= (p.Leu1781=)
n.421-22268T=
12g.6016202A>CCA383495622VWFc.5342T>G (p.Leu1781Trp)
n.421-22268T>G
gnomAD v4
12g.6016202A>GCA383495628VWFc.5342T>C (p.Leu1781Ser)
n.421-22268T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6016202A>TCA383495631VWFc.5342T>A (p.Leu1781Ter)
n.421-22268T>A
12g.6016203A>CCA383495638VWFc.5341T>G (p.Leu1781Val)
n.421-22269T>G
COSMIC
12g.6016203A>GCA478100755VWFc.5341T>C (p.Leu1781=)
n.421-22269T>C
12g.6016203A>TCA383495640VWFc.5341T>A (p.Leu1781Met)
n.421-22269T>A
12g.6016204G>ACA478100756VWFc.5340C>T (p.Tyr1780=)
n.421-22270C>T
gnomAD v4
12g.6016204G>CCA383495642VWFc.5340C>G (p.Tyr1780Ter)
n.421-22270C>G
12g.6016204G>TCA383495645VWFc.5340C>A (p.Tyr1780Ter)
n.421-22270C>A
12g.6016205T>ACA383495648VWFc.5339A>T (p.Tyr1780Phe)
n.421-22271A>T
12g.6016205T>CCA383495649VWFc.5339A>G (p.Tyr1780Cys)
n.421-22271A>G
12g.6016205T>GCA383495650VWFc.5339A>C (p.Tyr1780Ser)
n.421-22271A>C
12g.6016206A=CA2013871504VWFc.5338T= (p.Tyr1780=)
n.421-22272T=
12g.6016206A>CCA6402289VWFc.5338T>G (p.Tyr1780Asp)
n.421-22272T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6016206A>GCA243721VWFc.5338T>C (p.Tyr1780His)
n.421-22272T>C
ClinVar dbSNP
12g.6016206A>TCA383495652VWFc.5338T>A (p.Tyr1780Asn)
n.421-22272T>A
ClinVar dbSNP
12g.6016207T>ACA478100757VWFc.5337A>T (p.Arg1779=)
n.421-22273A>T
dbSNP gnomAD v2 gnomAD v4
12g.6016207T>CCA478100758VWFc.5337A>G (p.Arg1779=)
n.421-22273A>G
dbSNP gnomAD v2 gnomAD v4
12g.6016207T>GCA478100759VWFc.5337A>C (p.Arg1779=)
n.421-22273A>C
12g.6016207T=CA2013871505VWFc.5337A= (p.Arg1779=)
n.421-22273A=
12g.6016208C>ACA383495656VWFc.5336G>T (p.Arg1779Leu)
n.421-22274G>T
dbSNP gnomAD v2 gnomAD v4
12g.6016208C=CA2013871506VWFc.5336G= (p.Arg1779=)
n.421-22274G=
12g.6016208C>GCA383495660VWFc.5336G>C (p.Arg1779Pro)
n.421-22274G>C
12g.6016208C>TCA6402290VWFc.5336G>A (p.Arg1779Gln)
n.421-22274G>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.6016209G>ACA228713VWFc.5335C>T (p.Arg1779Ter)
n.421-22275C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6016209G>CCA383495663VWFc.5335C>G (p.Arg1779Gly)
n.421-22275C>G
12g.6016209G=CA2013871507VWFc.5335C= (p.Arg1779=)
n.421-22275C=
12g.6016209G>TCA478100762VWFc.5335C>A (p.Arg1779=)
n.421-22275C>A
12g.6016210C>ACA478100764VWFc.5334G>T (p.Val1778=)
n.421-22276G>T
12g.6016210C>GCA478100766VWFc.5334G>C (p.Val1778=)
n.421-22276G>C
12g.6016210C>TCA478100765VWFc.5334G>A (p.Val1778=)
n.421-22276G>A
12g.6016211A=CA2013871508VWFc.5333T= (p.Val1778=)
n.421-22277T=
12g.6016211A>CCA383495665VWFc.5333T>G (p.Val1778Gly)
n.421-22277T>G

Number of alleles fetched