Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6018397_6018423delCA2617229996VWFc.5003_5029del (p.Arg1668_Gln1676del)
n.421-24481_421-24455del
gnomAD v4
12g.6018404C>ACA383498497VWFc.5014G>T (p.Gly1672Ter)
n.421-24470G>T
gnomAD v4
12g.6018404C=CA2013872499VWFc.5014G= (p.Gly1672=)
n.421-24470G=
12g.6018404C>GCA383498498VWFc.5014G>C (p.Gly1672Arg)
n.421-24470G>C
12g.6018404C>TCA228696VWFc.5014G>A (p.Gly1672Arg)
n.421-24470G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6018405G>ACA6402424VWFc.5013C>T (p.Ser1671=)
n.421-24471C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6018405G>CCA478493962VWFc.5013C>G (p.Ser1671=)
n.421-24471C>G
12g.6018405G=CA2013872500VWFc.5013C= (p.Ser1671=)
n.421-24471C=
12g.6018405G>TCA478493963VWFc.5013C>A (p.Ser1671=)
n.421-24471C>A
gnomAD v4
12g.6018406G>ACA383498499VWFc.5012C>T (p.Ser1671Phe)
n.421-24472C>T
12g.6018406G>CCA383498500VWFc.5012C>G (p.Ser1671Cys)
n.421-24472C>G
12g.6018406G>TCA383498501VWFc.5012C>A (p.Ser1671Tyr)
n.421-24472C>A
gnomAD v4 COSMIC
12g.6018407A>CCA383498502VWFc.5011T>G (p.Ser1671Ala)
n.421-24473T>G
12g.6018407A>GCA383498503VWFc.5011T>C (p.Ser1671Pro)
n.421-24473T>C
gnomAD v4
12g.6018407A>TCA383498504VWFc.5011T>A (p.Ser1671Thr)
n.421-24473T>A
12g.6018408G>ACA478493964VWFc.5010C>T (p.Cys1670=)
n.421-24474C>T
12g.6018408G>CCA383498505VWFc.5010C>G (p.Cys1670Trp)
n.421-24474C>G
12g.6018408G>TCA383498506VWFc.5010C>A (p.Cys1670Ter)
n.421-24474C>A
12g.6018409C>ACA383498507VWFc.5009G>T (p.Cys1670Phe)
n.421-24475G>T
gnomAD v4
12g.6018409C=CA2013872501VWFc.5009G= (p.Cys1670=)
n.421-24475G=
12g.6018409C>GCA6402425VWFc.5009G>C (p.Cys1670Ser)
n.421-24475G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.6018409C>TCA383498508VWFc.5009G>A (p.Cys1670Tyr)
n.421-24475G>A
gnomAD v4
12g.6018410A>CCA383498509VWFc.5008T>G (p.Cys1670Gly)
n.421-24476T>G
12g.6018410A>GCA383498510VWFc.5008T>C (p.Cys1670Arg)
n.421-24476T>C
gnomAD v4
12g.6018410A>TCA383498511VWFc.5008T>A (p.Cys1670Ser)
n.421-24476T>A
12g.6018411G>ACA478493965VWFc.5007C>T (p.Cys1669=)
n.421-24477C>T
COSMIC
12g.6018411G>CCA383498512VWFc.5007C>G (p.Cys1669Trp)
n.421-24477C>G
dbSNP gnomAD v2 gnomAD v4
12g.6018411G=CA2013872502VWFc.5007C= (p.Cys1669=)
n.421-24477C=
12g.6018411G>TCA383498513VWFc.5007C>A (p.Cys1669Ter)
n.421-24477C>A
gnomAD v4
12g.6018412C>ACA383498514VWFc.5006G>T (p.Cys1669Phe)
n.421-24478G>T
12g.6018412C>GCA383498515VWFc.5006G>C (p.Cys1669Ser)
n.421-24478G>C
gnomAD v4
12g.6018412C>TCA383498516VWFc.5006G>A (p.Cys1669Tyr)
n.421-24478G>A
12g.6018413A>CCA383498519VWFc.5005T>G (p.Cys1669Gly)
n.421-24479T>G
12g.6018413A>GCA383498518VWFc.5005T>C (p.Cys1669Arg)
n.421-24479T>C
12g.6018413A>TCA383498517VWFc.5005T>A (p.Cys1669Ser)
n.421-24479T>A
12g.6018414C>ACA228694VWFc.5004G>T (p.Arg1668Ser)
n.421-24480G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6018414C=CA2013872503VWFc.5004G= (p.Arg1668=)
n.421-24480G=
12g.6018414C>GCA383498520VWFc.5004G>C (p.Arg1668Ser)
n.421-24480G>C
12g.6018414C>TCA6402426VWFc.5004G>A (p.Arg1668=)
n.421-24480G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6018415C>ACA383498521VWFc.5003G>T (p.Arg1668Met)
n.421-24481G>T
12g.6018415C>GCA383498523VWFc.5003G>C (p.Arg1668Thr)
n.421-24481G>C
12g.6018415C>TCA383498522VWFc.5003G>A (p.Arg1668Lys)
n.421-24481G>A
gnomAD v4
12g.6018416T>ACA383498524VWFc.5002A>T (p.Arg1668Trp)
n.421-24482A>T
12g.6018416T>CCA383498525VWFc.5002A>G (p.Arg1668Gly)
n.421-24482A>G
12g.6018416T>GCA478493966VWFc.5002A>C (p.Arg1668=)
n.421-24482A>C
gnomAD v4
12g.6018416dupCA2617230086VWFc.5002dup (p.Arg1668LysfsTer18)
n.421-24482dup
gnomAD v4
12g.6018417C>ACA383498526VWFc.5001G>T (p.Gln1667His)
n.421-24483G>T
dbSNP gnomAD v2 gnomAD v4
12g.6018417C=CA2013872504VWFc.5001G= (p.Gln1667=)
n.421-24483G=
12g.6018417C>GCA383498527VWFc.5001G>C (p.Gln1667His)
n.421-24483G>C
12g.6018417C>TCA6402427VWFc.5001G>A (p.Gln1667=)
n.421-24483G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched