Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15191744C>ACA404532092NOTCH3c.802+1G>T (n.802+1G>T)
c.799+1G>T (n.799+1G>T)
19g.15191744C>GCA404532094NOTCH3c.802+1G>C (n.802+1G>C)
c.799+1G>C (n.799+1G>C)
19g.15191744C>TCA404532099NOTCH3c.802+1G>A (n.802+1G>A)
c.799+1G>A (n.799+1G>A)
 dbSNP
19g.15191745C>ACA404532104NOTCH3c.802G>T (p.Gly268Cys)
c.799G>T (p.Gly267Cys)
19g.15191745C>GCA404532105NOTCH3c.802G>C (p.Gly268Arg)
c.799G>C (p.Gly267Arg)
 dbSNP
19g.15191745C>TCA404532109NOTCH3c.802G>A (p.Gly268Ser)
c.799G>A (p.Gly267Ser)
19g.15191746T>ACA506078679NOTCH3c.801A>T (p.Thr267=)
c.798A>T (p.Thr266=)
19g.15191746T>CCA506078680NOTCH3c.801A>G (p.Thr267=)
c.798A>G (p.Thr266=)
19g.15191746T>GCA506078681NOTCH3c.801A>C (p.Thr267=)
c.798A>C (p.Thr266=)
19g.15191747G>ACA9263792NOTCH3c.800C>T (p.Thr267Ile)
c.797C>T (p.Thr266Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191747G>CCA404532113NOTCH3c.800C>G (p.Thr267Arg)
c.797C>G (p.Thr266Arg)
19g.15191747G=CA2324749828NOTCH3c.800C= (p.Thr267=)
c.797C= (p.Thr266=)
19g.15191747G>TCA404532119NOTCH3c.800C>A (p.Thr267Lys)
c.797C>A (p.Thr266Lys)
19g.15191748T>ACA404532121NOTCH3c.799A>T (p.Thr267Ser)
c.796A>T (p.Thr266Ser)
19g.15191748T>CCA404532122NOTCH3c.799A>G (p.Thr267Ala)
c.796A>G (p.Thr266Ala)
19g.15191748T>GCA404532124NOTCH3c.799A>C (p.Thr267Pro)
c.796A>C (p.Thr266Pro)
19g.15191749C>ACA404532127NOTCH3c.798G>T (p.Trp266Cys)
c.795G>T (p.Trp265Cys)
 ClinVar dbSNP gnomAD v4
19g.15191749C=CA2324749829NOTCH3c.798G= (p.Trp266=)
c.795G= (p.Trp265=)
19g.15191749C>GCA404532130NOTCH3c.798G>C (p.Trp266Cys)
c.795G>C (p.Trp265Cys)
19g.15191749C>TCA404532134NOTCH3c.798G>A (p.Trp266Ter)
c.795G>A (p.Trp265Ter)
19g.15191750C>ACA404532138NOTCH3c.797G>T (p.Trp266Leu)
c.794G>T (p.Trp265Leu)
19g.15191750C>GCA404532139NOTCH3c.797G>C (p.Trp266Ser)
c.794G>C (p.Trp265Ser)
19g.15191750C>TCA404532144NOTCH3c.797G>A (p.Trp266Ter)
c.794G>A (p.Trp265Ter)
 dbSNP COSMIC COSMIC
19g.15191751A>CCA404532146NOTCH3c.796T>G (p.Trp266Gly)
c.793T>G (p.Trp265Gly)
19g.15191751A>GCA404532151NOTCH3c.796T>C (p.Trp266Arg)
c.793T>C (p.Trp265Arg)
19g.15191751A>TCA404532160NOTCH3c.796T>A (p.Trp266Arg)
c.793T>A (p.Trp265Arg)
19g.15191752C>ACA404532162NOTCH3c.795G>T (p.Glu265Asp)
c.792G>T (p.Glu264Asp)
19g.15191752C>GCA404532161NOTCH3c.795G>C (p.Glu265Asp)
c.792G>C (p.Glu264Asp)
19g.15191752C>TCA506078686NOTCH3c.795G>A (p.Glu265=)
c.792G>A (p.Glu264=)
 dbSNP
19g.15191753T>ACA404532165NOTCH3c.794A>T (p.Glu265Val)
c.791A>T (p.Glu264Val)
 dbSNP
19g.15191753T>CCA404532180NOTCH3c.794A>G (p.Glu265Gly)
c.791A>G (p.Glu264Gly)
19g.15191753T>GCA404532182NOTCH3c.794A>C (p.Glu265Ala)
c.791A>C (p.Glu264Ala)
19g.15191754C>ACA404532187NOTCH3c.793G>T (p.Glu265Ter)
c.790G>T (p.Glu264Ter)
19g.15191754C=CA2324749830NOTCH3c.793G= (p.Glu265=)
c.790G= (p.Glu264=)
19g.15191754C>GCA404532190NOTCH3c.793G>C (p.Glu265Gln)
c.790G>C (p.Glu264Gln)
19g.15191754C>TCA404532193NOTCH3c.793G>A (p.Glu265Lys)
c.790G>A (p.Glu264Lys)
 dbSNP
19g.15191755A>CCA506078689NOTCH3c.792T>G (p.Pro264=)
c.789T>G (p.Pro263=)
19g.15191755A>GCA506078690NOTCH3c.792T>C (p.Pro264=)
c.789T>C (p.Pro263=)
19g.15191755A>TCA506078691NOTCH3c.792T>A (p.Pro264=)
c.789T>A (p.Pro263=)
19g.15191756G>ACA404532205NOTCH3c.791C>T (p.Pro264Leu)
c.788C>T (p.Pro263Leu)
 dbSNP
19g.15191756G>CCA404532202NOTCH3c.791C>G (p.Pro264Arg)
c.788C>G (p.Pro263Arg)
19g.15191756G>TCA404532201NOTCH3c.791C>A (p.Pro264His)
c.788C>A (p.Pro263His)
 gnomAD v4
19g.15191757G>ACA9263793NOTCH3c.790C>T (p.Pro264Ser)
c.787C>T (p.Pro263Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191757G>CCA404532208NOTCH3c.790C>G (p.Pro264Ala)
c.787C>G (p.Pro263Ala)
19g.15191757G=CA2324749831NOTCH3c.790C= (p.Pro264=)
c.787C= (p.Pro263=)
19g.15191757G>TCA404532209NOTCH3c.790C>A (p.Pro264Thr)
c.787C>A (p.Pro263Thr)
 COSMIC COSMIC COSMIC
19g.15191758A>CCA506078693NOTCH3c.789T>G (p.Pro263=)
c.786T>G (p.Pro262=)
19g.15191758A>GCA506078694NOTCH3c.789T>C (p.Pro263=)
c.786T>C (p.Pro262=)
19g.15191758A>TCA506078695NOTCH3c.789T>A (p.Pro263=)
c.786T>A (p.Pro262=)
19g.15191759G>ACA404532212NOTCH3c.788C>T (p.Pro263Leu)
c.785C>T (p.Pro262Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191759G>CCA404532215NOTCH3c.788C>G (p.Pro263Arg)
c.785C>G (p.Pro262Arg)
19g.15191759G=CA2324749832NOTCH3c.788C= (p.Pro263=)
c.785C= (p.Pro262=)
19g.15191759G>TCA404532216NOTCH3c.788C>A (p.Pro263His)
c.785C>A (p.Pro262His)
19g.15191760G>ACA404532220NOTCH3c.787C>T (p.Pro263Ser)
c.784C>T (p.Pro262Ser)
19g.15191760G>CCA404532223NOTCH3c.787C>G (p.Pro263Ala)
c.784C>G (p.Pro262Ala)
 dbSNP
19g.15191760G>TCA404532221NOTCH3c.787C>A (p.Pro263Thr)
c.784C>A (p.Pro262Thr)
19g.15191761G>ACA9263794NOTCH3c.786C>T (p.Cys262=)
c.783C>T (p.Cys261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191761G>CCA404532227NOTCH3c.786C>G (p.Cys262Trp)
c.783C>G (p.Cys261Trp)
19g.15191761G=CA2324749833NOTCH3c.786C= (p.Cys262=)
c.783C= (p.Cys261=)
19g.15191761G>TCA404532229NOTCH3c.786C>A (p.Cys262Ter)
c.783C>A (p.Cys261Ter)
19g.15191762C>ACA404532235NOTCH3c.785G>T (p.Cys262Phe)
c.782G>T (p.Cys261Phe)
19g.15191762C>GCA404532238NOTCH3c.785G>C (p.Cys262Ser)
c.782G>C (p.Cys261Ser)
19g.15191762C>TCA404532240NOTCH3c.785G>A (p.Cys262Tyr)
c.782G>A (p.Cys261Tyr)
19g.15191763A>CCA404532241NOTCH3c.784T>G (p.Cys262Gly)
c.781T>G (p.Cys261Gly)
19g.15191763A>GCA404532242NOTCH3c.784T>C (p.Cys262Arg)
c.781T>C (p.Cys261Arg)
 gnomAD v4
19g.15191763A>TCA404532243NOTCH3c.784T>A (p.Cys262Ser)
c.781T>A (p.Cys261Ser)
19g.15191764C>ACA404532247NOTCH3c.783G>T (p.Gln261His)
c.780G>T (p.Gln260His)
19g.15191764C=CA2324749834NOTCH3c.783G= (p.Gln261=)
c.780G= (p.Gln260=)
19g.15191764C>GCA404532248NOTCH3c.783G>C (p.Gln261His)
c.780G>C (p.Gln260His)
19g.15191764C>TCA506078698NOTCH3c.783G>A (p.Gln261=)
c.780G>A (p.Gln260=)
 dbSNP gnomAD v2 gnomAD v4
19g.15191765T>ACA404532250NOTCH3c.782A>T (p.Gln261Leu)
c.779A>T (p.Gln260Leu)
 dbSNP
19g.15191765T>CCA404532254NOTCH3c.782A>G (p.Gln261Arg)
c.779A>G (p.Gln260Arg)
19g.15191765T>GCA404532252NOTCH3c.782A>C (p.Gln261Pro)
c.779A>C (p.Gln260Pro)
19g.15191766G>ACA404532257NOTCH3c.781C>T (p.Gln261Ter)
c.778C>T (p.Gln260Ter)
19g.15191766G>CCA404532265NOTCH3c.781C>G (p.Gln261Glu)
c.778C>G (p.Gln260Glu)
19g.15191766G>TCA404532259NOTCH3c.781C>A (p.Gln261Lys)
c.778C>A (p.Gln260Lys)
 dbSNP
19g.15191767delCA2735785247NOTCH3c.781del (p.Gln261SerfsTer?)
c.778del (p.Gln260SerfsTer?)
 dbSNP
19g.15191767G>ACA506078702NOTCH3c.780C>T (p.Cys260=)
c.777C>T (p.Cys259=)
 dbSNP
19g.15191767G>CCA404532268NOTCH3c.780C>G (p.Cys260Trp)
c.777C>G (p.Cys259Trp)
 dbSNP
19g.15191767G>TCA404532270NOTCH3c.780C>A (p.Cys260Ter)
c.777C>A (p.Cys259Ter)
19g.15191768C>ACA404532276NOTCH3c.779G>T (p.Cys260Phe)
c.776G>T (p.Cys259Phe)
 ClinVar dbSNP
19g.15191768C=CA2324749835NOTCH3c.779G= (p.Cys260=)
c.776G= (p.Cys259=)
19g.15191768C>GCA404532280NOTCH3c.779G>C (p.Cys260Ser)
c.776G>C (p.Cys259Ser)
19g.15191768C>TCA404532284NOTCH3c.779G>A (p.Cys260Tyr)
c.776G>A (p.Cys259Tyr)
 dbSNP
19g.15191769A>CCA404532286NOTCH3c.778T>G (p.Cys260Gly)
c.775T>G (p.Cys259Gly)
19g.15191769A>GCA404532287NOTCH3c.778T>C (p.Cys260Arg)
c.775T>C (p.Cys259Arg)
19g.15191769A>TCA404532292NOTCH3c.778T>A (p.Cys260Ser)
c.775T>A (p.Cys259Ser)
19g.15191770G>ACA506078707NOTCH3c.777C>T (p.Asn259=)
c.774C>T (p.Asn258=)
 dbSNP gnomAD v4
19g.15191770G>CCA404532295NOTCH3c.777C>G (p.Asn259Lys)
c.774C>G (p.Asn258Lys)
 gnomAD v4
19g.15191770G>TCA404532297NOTCH3c.777C>A (p.Asn259Lys)
c.774C>A (p.Asn258Lys)
19g.15191771T>ACA404532302NOTCH3c.776A>T (p.Asn259Ile)
c.773A>T (p.Asn258Ile)
 dbSNP
19g.15191771T>CCA404532306NOTCH3c.776A>G (p.Asn259Ser)
c.773A>G (p.Asn258Ser)
19g.15191771T>GCA305777486NOTCH3c.776A>C (p.Asn259Thr)
c.773A>C (p.Asn258Thr)
 dbSNP
19g.15191771T=CA2324749836NOTCH3c.776A= (p.Asn259=)
c.773A= (p.Asn258=)
19g.15191772T>ACA404532312NOTCH3c.775A>T (p.Asn259Tyr)
c.772A>T (p.Asn258Tyr)
19g.15191772T>CCA404532316NOTCH3c.775A>G (p.Asn259Asp)
c.772A>G (p.Asn258Asp)
19g.15191772T>GCA404532319NOTCH3c.775A>C (p.Asn259His)
c.772A>C (p.Asn258His)
19g.15191773A>CCA404532321NOTCH3c.774T>G (p.Tyr258Ter)
c.771T>G (p.Tyr257Ter)
19g.15191773A>GCA506078709NOTCH3c.774T>C (p.Tyr258=)
c.771T>C (p.Tyr257=)
19g.15191773A>TCA404532320NOTCH3c.774T>A (p.Tyr258Ter)
c.771T>A (p.Tyr257Ter)
19g.15191774T>ACA305777488NOTCH3c.773A>T (p.Tyr258Phe)
c.770A>T (p.Tyr257Phe)
 dbSNP
19g.15191774T>CCA404532336NOTCH3c.773A>G (p.Tyr258Cys)
c.770A>G (p.Tyr257Cys)
 ClinVar dbSNP gnomAD v4
19g.15191774T>GCA404532339NOTCH3c.773A>C (p.Tyr258Ser)
c.770A>C (p.Tyr257Ser)
19g.15191774T=CA2324749837NOTCH3c.773A= (p.Tyr258=)
c.770A= (p.Tyr257=)
19g.15191775A=CA2324749838NOTCH3c.772T= (p.Tyr258=)
c.769T= (p.Tyr257=)
19g.15191775A>CCA404532342NOTCH3c.772T>G (p.Tyr258Asp)
c.769T>G (p.Tyr257Asp)
19g.15191775A>GCA305777508NOTCH3c.772T>C (p.Tyr258His)
c.769T>C (p.Tyr257His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191775A>TCA404532352NOTCH3c.772T>A (p.Tyr258Asn)
c.769T>A (p.Tyr257Asn)
19g.15191776G>ACA506078714NOTCH3c.771C>T (p.Thr257=)
c.768C>T (p.Thr256=)
19g.15191776G>CCA506078715NOTCH3c.771C>G (p.Thr257=)
c.768C>G (p.Thr256=)
19g.15191776G=CA2324749839NOTCH3c.771C= (p.Thr257=)
c.768C= (p.Thr256=)
19g.15191776G>TCA9263795NOTCH3c.771C>A (p.Thr257=)
c.768C>A (p.Thr256=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191777G>ACA404532354NOTCH3c.770C>T (p.Thr257Ile)
c.767C>T (p.Thr256Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191777G>CCA404532355NOTCH3c.770C>G (p.Thr257Ser)
c.767C>G (p.Thr256Ser)
19g.15191777G=CA2324749840NOTCH3c.770C= (p.Thr257=)
c.767C= (p.Thr256=)
19g.15191777G>TCA404532357NOTCH3c.770C>A (p.Thr257Asn)
c.767C>A (p.Thr256Asn)
 gnomAD v4
19g.15191778T>ACA404532358NOTCH3c.769A>T (p.Thr257Ser)
c.766A>T (p.Thr256Ser)
19g.15191778T>CCA404532360NOTCH3c.769A>G (p.Thr257Ala)
c.766A>G (p.Thr256Ala)
19g.15191778T>GCA404532361NOTCH3c.769A>C (p.Thr257Pro)
c.766A>C (p.Thr256Pro)
 dbSNP
19g.15191778T=CA2324749841NOTCH3c.769A= (p.Thr257=)
c.766A= (p.Thr256=)
19g.15191779G>ACA9263796NOTCH3c.768C>T (p.Asn256=)
c.765C>T (p.Asn255=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15191779G>CCA404532390NOTCH3c.768C>G (p.Asn256Lys)
c.765C>G (p.Asn255Lys)
19g.15191779G=CA2324749842NOTCH3c.768C= (p.Asn256=)
c.765C= (p.Asn255=)
19g.15191779G>TCA404532376NOTCH3c.768C>A (p.Asn256Lys)
c.765C>A (p.Asn255Lys)
19g.15191780T>ACA404532394NOTCH3c.767A>T (p.Asn256Ile)
c.764A>T (p.Asn255Ile)
 dbSNP
19g.15191780T>CCA404532396NOTCH3c.767A>G (p.Asn256Ser)
c.764A>G (p.Asn255Ser)
 gnomAD v4
19g.15191780T>GCA404532398NOTCH3c.767A>C (p.Asn256Thr)
c.764A>C (p.Asn255Thr)
19g.15191781T>ACA404532406NOTCH3c.766A>T (p.Asn256Tyr)
c.763A>T (p.Asn255Tyr)
19g.15191781T>CCA404532410NOTCH3c.766A>G (p.Asn256Asp)
c.763A>G (p.Asn255Asp)
 dbSNP
19g.15191781T>GCA404532420NOTCH3c.766A>C (p.Asn256His)
c.763A>C (p.Asn255His)
19g.15191782G>ACA506078719NOTCH3c.765C>T (p.Val255=)
c.762C>T (p.Val254=)
19g.15191782G>CCA506078721NOTCH3c.765C>G (p.Val255=)
c.762C>G (p.Val254=)
 dbSNP
19g.15191782G>TCA506078722NOTCH3c.765C>A (p.Val255=)
c.762C>A (p.Val254=)
 dbSNP
19g.15191783A>CCA404532424NOTCH3c.764T>G (p.Val255Gly)
c.761T>G (p.Val254Gly)
19g.15191783A>GCA404532427NOTCH3c.764T>C (p.Val255Ala)
c.761T>C (p.Val254Ala)
19g.15191783A>TCA404532432NOTCH3c.764T>A (p.Val255Asp)
c.761T>A (p.Val254Asp)
 dbSNP
19g.15191784C>ACA404532435NOTCH3c.763G>T (p.Val255Phe)
c.760G>T (p.Val254Phe)
19g.15191784C=CA2324749843NOTCH3c.763G= (p.Val255=)
c.760G= (p.Val254=)
19g.15191784C>GCA404532436NOTCH3c.763G>C (p.Val255Leu)
c.760G>C (p.Val254Leu)
19g.15191784C>TCA404532437NOTCH3c.763G>A (p.Val255Ile)
c.760G>A (p.Val254Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.15191785G>ACA9263797NOTCH3c.762C>T (p.Gly254=)
c.759C>T (p.Gly253=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191785G>CCA506078726NOTCH3c.762C>G (p.Gly254=)
c.759C>G (p.Gly253=)
19g.15191785G=CA2324749844NOTCH3c.762C= (p.Gly254=)
c.759C= (p.Gly253=)
19g.15191785G>TCA506078727NOTCH3c.762C>A (p.Gly254=)
c.759C>A (p.Gly253=)
19g.15191786C>ACA404532438NOTCH3c.761G>T (p.Gly254Val)
c.758G>T (p.Gly253Val)
19g.15191786C>GCA404532442NOTCH3c.761G>C (p.Gly254Ala)
c.758G>C (p.Gly253Ala)
19g.15191786C>TCA404532440NOTCH3c.761G>A (p.Gly254Asp)
c.758G>A (p.Gly253Asp)
19g.15191787C>ACA404532443NOTCH3c.760G>T (p.Gly254Cys)
c.757G>T (p.Gly253Cys)
19g.15191787C>GCA404532446NOTCH3c.760G>C (p.Gly254Arg)
c.757G>C (p.Gly253Arg)
 dbSNP
19g.15191787C>TCA404532452NOTCH3c.760G>A (p.Gly254Ser)
c.757G>A (p.Gly253Ser)
19g.15191788A>CCA404532453NOTCH3c.759T>G (p.Asp253Glu)
c.756T>G (p.Asp252Glu)
 dbSNP
19g.15191788A>GCA506078731NOTCH3c.759T>C (p.Asp253=)
c.756T>C (p.Asp252=)
 dbSNP
19g.15191788A>TCA404532456NOTCH3c.759T>A (p.Asp253Glu)
c.756T>A (p.Asp252Glu)
19g.15191788_15191833delinsATCCACGCATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCGCA2324749845NOTCH3c.714_759delinsCGACTGTCCAGGACACCGATGTCTCAATGGGGGGACATGCGTGGAT (p.Asp238=)
c.711_756delinsCGACTGTCCAGGACACCGATGTCTCAATGGGGGGACATGCGTGGAT (p.Asp237=)
19g.15191789T>ACA404532471NOTCH3c.758A>T (p.Asp253Val)
c.755A>T (p.Asp252Val)
19g.15191789T>CCA404532477NOTCH3c.758A>G (p.Asp253Gly)
c.755A>G (p.Asp252Gly)
19g.15191789T>GCA404532480NOTCH3c.758A>C (p.Asp253Ala)
c.755A>C (p.Asp252Ala)
19g.15191795_15191839delCA340887NOTCH3c.714_758del (p.Asp239_Asp253del)
c.711_755del (p.Asp238_Asp252del)
 ClinVar dbSNP
19g.15191790C>ACA404532498NOTCH3c.757G>T (p.Asp253Tyr)
c.754G>T (p.Asp252Tyr)
19g.15191790C=CA2324749846NOTCH3c.757G= (p.Asp253=)
c.754G= (p.Asp252=)
19g.15191790C>GCA404532496NOTCH3c.757G>C (p.Asp253His)
c.754G>C (p.Asp252His)
19g.15191790C>TCA404532492NOTCH3c.757G>A (p.Asp253Asn)
c.754G>A (p.Asp252Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.15191791C>ACA506078735NOTCH3c.756G>T (p.Val252=)
c.753G>T (p.Val251=)
19g.15191791C>GCA506078734NOTCH3c.756G>C (p.Val252=)
c.753G>C (p.Val251=)
 dbSNP
19g.15191791C>TCA506078733NOTCH3c.756G>A (p.Val252=)
c.753G>A (p.Val251=)
19g.15191792A>CCA404532500NOTCH3c.755T>G (p.Val252Gly)
c.752T>G (p.Val251Gly)
19g.15191792A>GCA404532503NOTCH3c.755T>C (p.Val252Ala)
c.752T>C (p.Val251Ala)
19g.15191792A>TCA404532507NOTCH3c.755T>A (p.Val252Glu)
c.752T>A (p.Val251Glu)
 dbSNP
19g.15191793C>ACA404532510NOTCH3c.754G>T (p.Val252Leu)
c.751G>T (p.Val251Leu)
19g.15191793C=CA2324749847NOTCH3c.754G= (p.Val252=)
c.751G= (p.Val251=)
19g.15191793C>GCA404532512NOTCH3c.754G>C (p.Val252Leu)
c.751G>C (p.Val251Leu)
 dbSNP
19g.15191793C>TCA9263798NOTCH3c.754G>A (p.Val252Met)
c.751G>A (p.Val251Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15191794G>ACA506078737NOTCH3c.753C>T (p.Cys251=)
c.750C>T (p.Cys250=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15191794G>CCA404532521NOTCH3c.753C>G (p.Cys251Trp)
c.750C>G (p.Cys250Trp)
 dbSNP
19g.15191794G=CA2324749848NOTCH3c.753C= (p.Cys251=)
c.750C= (p.Cys250=)
19g.15191794G>TCA404532518NOTCH3c.753C>A (p.Cys251Ter)
c.750C>A (p.Cys250Ter)
19g.15191795C>ACA404532525NOTCH3c.752G>T (p.Cys251Phe)
c.749G>T (p.Cys250Phe)
 ClinVar dbSNP
19g.15191795C=CA2324749849NOTCH3c.752G= (p.Cys251=)
c.749G= (p.Cys250=)
19g.15191795C>GCA404532526NOTCH3c.752G>C (p.Cys251Ser)
c.749G>C (p.Cys250Ser)
 dbSNP COSMIC COSMIC
19g.15191795C>TCA404532528NOTCH3c.752G>A (p.Cys251Tyr)
c.749G>A (p.Cys250Tyr)
 ClinVar dbSNP
19g.15191796A=CA2324749850NOTCH3c.751T= (p.Cys251=)
c.748T= (p.Cys250=)
19g.15191796A>CCA404532531NOTCH3c.751T>G (p.Cys251Gly)
c.748T>G (p.Cys250Gly)
19g.15191796A>GCA404532533NOTCH3c.751T>C (p.Cys251Arg)
c.748T>C (p.Cys250Arg)
 ClinVar dbSNP
19g.15191796A>TCA404532536NOTCH3c.751T>A (p.Cys251Ser)
c.748T>A (p.Cys250Ser)
 ClinVar
19g.15191797T>ACA506078741NOTCH3c.750A>T (p.Thr250=)
c.747A>T (p.Thr249=)
19g.15191797T>CCA506078740NOTCH3c.750A>G (p.Thr250=)
c.747A>G (p.Thr249=)
 dbSNP gnomAD v4
19g.15191797T>GCA506078739NOTCH3c.750A>C (p.Thr250=)
c.747A>C (p.Thr249=)
19g.15191798G>ACA404532541NOTCH3c.749C>T (p.Thr250Ile)
c.746C>T (p.Thr249Ile)
 dbSNP gnomAD v4
19g.15191798G>CCA404532538NOTCH3c.749C>G (p.Thr250Arg)
c.746C>G (p.Thr249Arg)
 dbSNP
19g.15191798G>TCA404532539NOTCH3c.749C>A (p.Thr250Lys)
c.746C>A (p.Thr249Lys)
19g.15191799T>ACA404532542NOTCH3c.748A>T (p.Thr250Ser)
c.745A>T (p.Thr249Ser)
19g.15191799T>CCA404532544NOTCH3c.748A>G (p.Thr250Ala)
c.745A>G (p.Thr249Ala)
 dbSNP
19g.15191799T>GCA404532546NOTCH3c.748A>C (p.Thr250Pro)
c.745A>C (p.Thr249Pro)
19g.15191799T=CA2324749851NOTCH3c.748A= (p.Thr250=)
c.745A= (p.Thr249=)
19g.15191799dupCA2580096672NOTCH3c.748dup (p.Thr250AsnfsTer10)
c.745dup (p.Thr249AsnfsTer10)
 ClinVar
19g.15191800C>ACA506078748NOTCH3c.747G>T (p.Gly249=)
c.744G>T (p.Gly248=)
 gnomAD v4
19g.15191800C=CA2324749852NOTCH3c.747G= (p.Gly249=)
c.744G= (p.Gly248=)
19g.15191800C>GCA506078745NOTCH3c.747G>C (p.Gly249=)
c.744G>C (p.Gly248=)
 dbSNP
19g.15191800C>TCA506078747NOTCH3c.747G>A (p.Gly249=)
c.744G>A (p.Gly248=)
 dbSNP gnomAD v4
19g.15191805dupCA632128097NOTCH3c.747dup (p.Thr250AspfsTer10)
c.744dup (p.Thr249AspfsTer10)
 dbSNP gnomAD v2 gnomAD v4
19g.15191805delCA506078746NOTCH3c.747del (p.Thr250HisfsTer?)
c.744del (p.Thr249HisfsTer?)
 COSMIC COSMIC
19g.15191801C>ACA404532548NOTCH3c.746G>T (p.Gly249Val)
c.743G>T (p.Gly248Val)
19g.15191801C>GCA404532549NOTCH3c.746G>C (p.Gly249Ala)
c.743G>C (p.Gly248Ala)
 dbSNP
19g.15191801C>TCA404532552NOTCH3c.746G>A (p.Gly249Glu)
c.743G>A (p.Gly248Glu)
 dbSNP
19g.15191802C>ACA404532560NOTCH3c.745G>T (p.Gly249Trp)
c.742G>T (p.Gly248Trp)
19g.15191802C=CA2324749853NOTCH3c.745G= (p.Gly249=)
c.742G= (p.Gly248=)
19g.15191802C>GCA404532562NOTCH3c.745G>C (p.Gly249Arg)
c.742G>C (p.Gly248Arg)
19g.15191802C>TCA305777548NOTCH3c.745G>A (p.Gly249Arg)
c.742G>A (p.Gly248Arg)
 dbSNP
19g.15191803C>ACA506078750NOTCH3c.744G>T (p.Gly248=)
c.741G>T (p.Gly247=)
19g.15191803C=CA2324749854NOTCH3c.744G= (p.Gly248=)
c.741G= (p.Gly247=)
19g.15191803C>GCA506078751NOTCH3c.744G>C (p.Gly248=)
c.741G>C (p.Gly247=)
19g.15191803C>TCA506078752NOTCH3c.744G>A (p.Gly248=)
c.741G>A (p.Gly247=)
 dbSNP gnomAD v2 gnomAD v4
19g.15191804C>ACA305777551NOTCH3c.743G>T (p.Gly248Val)
c.740G>T (p.Gly247Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191804C=CA2324749855NOTCH3c.743G= (p.Gly248=)
c.740G= (p.Gly247=)
19g.15191804C>GCA9263799NOTCH3c.743G>C (p.Gly248Ala)
c.740G>C (p.Gly247Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191804C>TCA404532564NOTCH3c.743G>A (p.Gly248Glu)
c.740G>A (p.Gly247Glu)
 dbSNP gnomAD v4
19g.15191804_15191805delinsATCA2580096673NOTCH3c.742_743delinsAT (p.Gly248Met)
c.739_740delinsAT (p.Gly247Met)
 ClinVar
19g.15191805C>ACA404532566NOTCH3c.742G>T (p.Gly248Trp)
c.739G>T (p.Gly247Trp)
19g.15191805C>GCA404532580NOTCH3c.742G>C (p.Gly248Arg)
c.739G>C (p.Gly247Arg)
 dbSNP
19g.15191805C>TCA404532577NOTCH3c.742G>A (p.Gly248Arg)
c.739G>A (p.Gly247Arg)
19g.15191806A=CA2324749856NOTCH3c.741T= (p.Asn247=)
c.738T= (p.Asn246=)
19g.15191806A>CCA404532582NOTCH3c.741T>G (p.Asn247Lys)
c.738T>G (p.Asn246Lys)
 ClinVar dbSNP
19g.15191806A>GCA506078756NOTCH3c.741T>C (p.Asn247=)
c.738T>C (p.Asn246=)
 dbSNP
19g.15191806A>TCA404532586NOTCH3c.741T>A (p.Asn247Lys)
c.738T>A (p.Asn246Lys)
19g.15191807T>ACA404532588NOTCH3c.740A>T (p.Asn247Ile)
c.737A>T (p.Asn246Ile)
19g.15191807T>CCA9263800NOTCH3c.740A>G (p.Asn247Ser)
c.737A>G (p.Asn246Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191807T>GCA404532591NOTCH3c.740A>C (p.Asn247Thr)
c.737A>C (p.Asn246Thr)
19g.15191807T=CA2324749857NOTCH3c.740A= (p.Asn247=)
c.737A= (p.Asn246=)
19g.15191808T>ACA404532592NOTCH3c.739A>T (p.Asn247Tyr)
c.736A>T (p.Asn246Tyr)
19g.15191808T>CCA404532595NOTCH3c.739A>G (p.Asn247Asp)
c.736A>G (p.Asn246Asp)
 gnomAD v4
19g.15191808T>GCA404532597NOTCH3c.739A>C (p.Asn247His)
c.736A>C (p.Asn246His)
 dbSNP gnomAD v4
19g.15191808T=CA2324749858NOTCH3c.739A= (p.Asn247=)
c.736A= (p.Asn246=)
19g.15191809G>ACA506078760NOTCH3c.738C>T (p.Leu246=)
c.735C>T (p.Leu245=)
 ClinVar dbSNP
19g.15191809G>CCA506078761NOTCH3c.738C>G (p.Leu246=)
c.735C>G (p.Leu245=)
19g.15191809G>TCA506078762NOTCH3c.738C>A (p.Leu246=)
c.735C>A (p.Leu245=)
 dbSNP
19g.15191810A>CCA404532600NOTCH3c.737T>G (p.Leu246Arg)
c.734T>G (p.Leu245Arg)
 dbSNP
19g.15191810A>GCA404532603NOTCH3c.737T>C (p.Leu246Pro)
c.734T>C (p.Leu245Pro)
 dbSNP
19g.15191810A>TCA404532604NOTCH3c.737T>A (p.Leu246His)
c.734T>A (p.Leu245His)
19g.15191811G>ACA404532613NOTCH3c.736C>T (p.Leu246Phe)
c.733C>T (p.Leu245Phe)
 COSMIC COSMIC
19g.15191811G>CCA404532610NOTCH3c.736C>G (p.Leu246Val)
c.733C>G (p.Leu245Val)
19g.15191811G>TCA404532606NOTCH3c.736C>A (p.Leu246Ile)
c.733C>A (p.Leu245Ile)
19g.15191812A>CCA404532615NOTCH3c.735T>G (p.Cys245Trp)
c.732T>G (p.Cys244Trp)
19g.15191812A>GCA506078766NOTCH3c.735T>C (p.Cys245=)
c.732T>C (p.Cys244=)
 dbSNP
19g.15191812A>TCA404532617NOTCH3c.735T>A (p.Cys245Ter)
c.732T>A (p.Cys244Ter)
19g.15191813C>ACA404532618NOTCH3c.734G>T (p.Cys245Phe)
c.731G>T (p.Cys244Phe)
19g.15191813C>GCA404532623NOTCH3c.734G>C (p.Cys245Ser)
c.731G>C (p.Cys244Ser)
19g.15191813C>TCA404532626NOTCH3c.734G>A (p.Cys245Tyr)
c.731G>A (p.Cys244Tyr)
19g.15191814A>CCA404532648NOTCH3c.733T>G (p.Cys245Gly)
c.730T>G (p.Cys244Gly)
19g.15191814A>GCA404532652NOTCH3c.733T>C (p.Cys245Arg)
c.730T>C (p.Cys244Arg)
 ClinVar dbSNP
19g.15191814A>TCA404532654NOTCH3c.733T>A (p.Cys245Ser)
c.730T>A (p.Cys244Ser)
19g.15191815T>ACA506078768NOTCH3c.732A>T (p.Arg244=)
c.729A>T (p.Arg243=)
19g.15191815T>CCA506078772NOTCH3c.732A>G (p.Arg244=)
c.729A>G (p.Arg243=)
19g.15191815T>GCA506078770NOTCH3c.732A>C (p.Arg244=)
c.729A>C (p.Arg243=)
19g.15191816C>ACA404532657NOTCH3c.731G>T (p.Arg244Leu)
c.728G>T (p.Arg243Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.15191816C=CA2324749859NOTCH3c.731G= (p.Arg244=)
c.728G= (p.Arg243=)
19g.15191816C>GCA404532660NOTCH3c.731G>C (p.Arg244Pro)
c.728G>C (p.Arg243Pro)
19g.15191816C>TCA9263801NOTCH3c.731G>A (p.Arg244Gln)
c.728G>A (p.Arg243Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15191817G>ACA404532670NOTCH3c.730C>T (p.Arg244Ter)
c.727C>T (p.Arg243Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.15191817G>CCA404532672NOTCH3c.730C>G (p.Arg244Gly)
c.727C>G (p.Arg243Gly)
19g.15191817G=CA2324749860NOTCH3c.730C= (p.Arg244=)
c.727C= (p.Arg243=)
19g.15191817G>TCA506078773NOTCH3c.730C>A (p.Arg244=)
c.727C>A (p.Arg243=)
 dbSNP
19g.15191818G>ACA506078774NOTCH3c.729C>T (p.His243=)
c.726C>T (p.His242=)
 gnomAD v4
19g.15191818G>CCA404532679NOTCH3c.729C>G (p.His243Gln)
c.726C>G (p.His242Gln)
19g.15191818G>TCA404532676NOTCH3c.729C>A (p.His243Gln)
c.726C>A (p.His242Gln)
19g.15191819T>ACA404532682NOTCH3c.728A>T (p.His243Leu)
c.725A>T (p.His242Leu)
19g.15191819T>CCA404532684NOTCH3c.728A>G (p.His243Arg)
c.725A>G (p.His242Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.15191819T>GCA404532683NOTCH3c.728A>C (p.His243Pro)
c.725A>C (p.His242Pro)
 dbSNP
19g.15191819T=CA2324749861NOTCH3c.728A= (p.His243=)
c.725A= (p.His242=)
19g.15191820G>ACA9263802NOTCH3c.727C>T (p.His243Tyr)
c.724C>T (p.His242Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191820G>CCA404532688NOTCH3c.727C>G (p.His243Asp)
c.724C>G (p.His242Asp)
19g.15191820G=CA2324749862NOTCH3c.727C= (p.His243=)
c.724C= (p.His242=)
19g.15191820G>TCA404532687NOTCH3c.727C>A (p.His243Asn)
c.724C>A (p.His242Asn)
19g.15191821T>ACA506078776NOTCH3c.726A>T (p.Gly242=)
c.723A>T (p.Gly241=)
19g.15191821T>CCA506078778NOTCH3c.726A>G (p.Gly242=)
c.723A>G (p.Gly241=)
 dbSNP
19g.15191821T>GCA506078777NOTCH3c.726A>C (p.Gly242=)
c.723A>C (p.Gly241=)
19g.15191822C>ACA404532691NOTCH3c.725G>T (p.Gly242Val)
c.722G>T (p.Gly241Val)
 dbSNP
19g.15191822C=CA2324749863NOTCH3c.725G= (p.Gly242=)
c.722G= (p.Gly241=)
19g.15191822C>GCA404532694NOTCH3c.725G>C (p.Gly242Ala)
c.722G>C (p.Gly241Ala)
 dbSNP
19g.15191822C>TCA404532695NOTCH3c.725G>A (p.Gly242Glu)
c.722G>A (p.Gly241Glu)
 dbSNP
19g.15191823C>ACA404532699NOTCH3c.724G>T (p.Gly242Ter)
c.721G>T (p.Gly241Ter)
19g.15191823C=CA2324749864NOTCH3c.724G= (p.Gly242=)
c.721G= (p.Gly241=)
19g.15191823C>GCA404532708NOTCH3c.724G>C (p.Gly242Arg)
c.721G>C (p.Gly241Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.15191823C>TCA404532710NOTCH3c.724G>A (p.Gly242Arg)
c.721G>A (p.Gly241Arg)
19g.15191824T>ACA506078779NOTCH3c.723A>T (p.Pro241=)
c.720A>T (p.Pro240=)
19g.15191824T>CCA506078780NOTCH3c.723A>G (p.Pro241=)
c.720A>G (p.Pro240=)
 dbSNP gnomAD v4
19g.15191824T>GCA506078781NOTCH3c.723A>C (p.Pro241=)
c.720A>C (p.Pro240=)
19g.15191825G>ACA404532714NOTCH3c.722C>T (p.Pro241Leu)
c.719C>T (p.Pro240Leu)
19g.15191825G>CCA404532718NOTCH3c.722C>G (p.Pro241Arg)
c.719C>G (p.Pro240Arg)
19g.15191825G>TCA404532722NOTCH3c.722C>A (p.Pro241Gln)
c.719C>A (p.Pro240Gln)
19g.15191826G>ACA404532724NOTCH3c.721C>T (p.Pro241Ser)
c.718C>T (p.Pro240Ser)
19g.15191826G>CCA404532725NOTCH3c.721C>G (p.Pro241Ala)
c.718C>G (p.Pro240Ala)
19g.15191826G>TCA404532726NOTCH3c.721C>A (p.Pro241Thr)
c.718C>A (p.Pro240Thr)
19g.15191827A>CCA404532733NOTCH3c.720T>G (p.Cys240Trp)
c.717T>G (p.Cys239Trp)
19g.15191827A>GCA506078782NOTCH3c.720T>C (p.Cys240=)
c.717T>C (p.Cys239=)
19g.15191827A>TCA404532730NOTCH3c.720T>A (p.Cys240Ter)
c.717T>A (p.Cys239Ter)
 gnomAD v4
19g.15191828C>ACA404532736NOTCH3c.719G>T (p.Cys240Phe)
c.716G>T (p.Cys239Phe)
19g.15191828C=CA2324749865NOTCH3c.719G= (p.Cys240=)
c.716G= (p.Cys239=)
19g.15191828C>GCA404532739NOTCH3c.719G>C (p.Cys240Ser)
c.716G>C (p.Cys239Ser)
19g.15191828C>TCA404532746NOTCH3c.719G>A (p.Cys240Tyr)
c.716G>A (p.Cys239Tyr)
 ClinVar dbSNP
19g.15191829A>CCA404532748NOTCH3c.718T>G (p.Cys240Gly)
c.715T>G (p.Cys239Gly)
19g.15191829A>GCA404532750NOTCH3c.718T>C (p.Cys240Arg)
c.715T>C (p.Cys239Arg)
19g.15191829A>TCA404532752NOTCH3c.718T>A (p.Cys240Ser)
c.715T>A (p.Cys239Ser)
19g.15191830G>ACA506078783NOTCH3c.717C>T (p.Asp239=)
c.714C>T (p.Asp238=)
19g.15191830G>CCA404532754NOTCH3c.717C>G (p.Asp239Glu)
c.714C>G (p.Asp238Glu)
 dbSNP
19g.15191830G>TCA404532755NOTCH3c.717C>A (p.Asp239Glu)
c.714C>A (p.Asp238Glu)
19g.15191831T>ACA404532756NOTCH3c.716A>T (p.Asp239Val)
c.713A>T (p.Asp238Val)
 dbSNP gnomAD v4
19g.15191831T>CCA404532758NOTCH3c.716A>G (p.Asp239Gly)
c.713A>G (p.Asp238Gly)
19g.15191831T>GCA404532760NOTCH3c.716A>C (p.Asp239Ala)
c.713A>C (p.Asp238Ala)
19g.15191832C>ACA404532765NOTCH3c.715G>T (p.Asp239Tyr)
c.712G>T (p.Asp238Tyr)
 gnomAD v4
19g.15191832C=CA2324749866NOTCH3c.715G= (p.Asp239=)
c.712G= (p.Asp238=)
19g.15191832C>GCA9263804NOTCH3c.715G>C (p.Asp239His)
c.712G>C (p.Asp238His)
 dbSNP ExAC gnomAD v2
19g.15191832C>TCA9263803NOTCH3c.715G>A (p.Asp239Asn)
c.712G>A (p.Asp238Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15191833G>ACA9263805NOTCH3c.714C>T (p.Asp238=)
c.711C>T (p.Asp237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191833G>CCA404532768NOTCH3c.714C>G (p.Asp238Glu)
c.711C>G (p.Asp237Glu)
19g.15191833G=CA2324749867NOTCH3c.714C= (p.Asp238=)
c.711C= (p.Asp237=)
19g.15191833G>TCA404532773NOTCH3c.714C>A (p.Asp238Glu)
c.711C>A (p.Asp237Glu)
19g.15191834T>ACA404532777NOTCH3c.713A>T (p.Asp238Val)
c.710A>T (p.Asp237Val)
19g.15191834T>CCA404532779NOTCH3c.713A>G (p.Asp238Gly)
c.710A>G (p.Asp237Gly)
19g.15191834T>GCA404532781NOTCH3c.713A>C (p.Asp238Ala)
c.710A>C (p.Asp237Ala)
 dbSNP
19g.15191835C>ACA404532783NOTCH3c.712G>T (p.Asp238Tyr)
c.709G>T (p.Asp237Tyr)
 gnomAD v4
19g.15191835C=CA2324749868NOTCH3c.712G= (p.Asp238=)
c.709G= (p.Asp237=)
19g.15191835C>GCA404532785NOTCH3c.712G>C (p.Asp238His)
c.709G>C (p.Asp237His)
 dbSNP
19g.15191835C>TCA305777599NOTCH3c.712G>A (p.Asp238Asn)
c.709G>A (p.Asp237Asn)
 dbSNP gnomAD v4
19g.15191836C>ACA506078784NOTCH3c.711G>T (p.Val237=)
c.708G>T (p.Val236=)
19g.15191836C>GCA506078786NOTCH3c.711G>C (p.Val237=)
c.708G>C (p.Val236=)
 dbSNP
19g.15191836C>TCA506078785NOTCH3c.711G>A (p.Val237=)
c.708G>A (p.Val236=)
 dbSNP
19g.15191837A>CCA404532788NOTCH3c.710T>G (p.Val237Gly)
c.707T>G (p.Val236Gly)
19g.15191837A>GCA404532790NOTCH3c.710T>C (p.Val237Ala)
c.707T>C (p.Val236Ala)
19g.15191837A>TCA404532792NOTCH3c.710T>A (p.Val237Glu)
c.707T>A (p.Val236Glu)
19g.15191838C>ACA404532798NOTCH3c.709G>T (p.Val237Leu)
c.706G>T (p.Val236Leu)
 ClinVar dbSNP
19g.15191838C=CA2324749869NOTCH3c.709G= (p.Val237=)
c.706G= (p.Val236=)
19g.15191838C>GCA404532796NOTCH3c.709G>C (p.Val237Leu)
c.706G>C (p.Val236Leu)
19g.15191838C>TCA9263806NOTCH3c.709G>A (p.Val237Met)
c.706G>A (p.Val236Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191839G>ACA9263807NOTCH3c.708C>T (p.Asn236=)
c.705C>T (p.Asn235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191839G>CCA404532801NOTCH3c.708C>G (p.Asn236Lys)
c.705C>G (p.Asn235Lys)
19g.15191839G=CA2324749870NOTCH3c.708C= (p.Asn236=)
c.705C= (p.Asn235=)
19g.15191839G>TCA404532803NOTCH3c.708C>A (p.Asn236Lys)
c.705C>A (p.Asn235Lys)
19g.15191840T>ACA404532806NOTCH3c.707A>T (p.Asn236Ile)
c.704A>T (p.Asn235Ile)
19g.15191840T>CCA404532808NOTCH3c.707A>G (p.Asn236Ser)
c.704A>G (p.Asn235Ser)
19g.15191840T>GCA404532809NOTCH3c.707A>C (p.Asn236Thr)
c.704A>C (p.Asn235Thr)
19g.15191841T>ACA404532813NOTCH3c.706A>T (p.Asn236Tyr)
c.703A>T (p.Asn235Tyr)
19g.15191841T>CCA404532815NOTCH3c.706A>G (p.Asn236Asp)
c.703A>G (p.Asn235Asp)
 dbSNP
19g.15191841T>GCA404532817NOTCH3c.706A>C (p.Asn236His)
c.703A>C (p.Asn235His)
19g.15191842C>ACA506078787NOTCH3c.705G>T (p.Val235=)
c.702G>T (p.Val234=)
 gnomAD v4
19g.15191842C>GCA506078789NOTCH3c.705G>C (p.Val235=)
c.702G>C (p.Val234=)
19g.15191842C>TCA506078788NOTCH3c.705G>A (p.Val235=)
c.702G>A (p.Val234=)
19g.15191843A>CCA404532820NOTCH3c.704T>G (p.Val235Gly)
c.701T>G (p.Val234Gly)
19g.15191843A>GCA404532823NOTCH3c.704T>C (p.Val235Ala)
c.701T>C (p.Val234Ala)
19g.15191843A>TCA404532824NOTCH3c.704T>A (p.Val235Glu)
c.701T>A (p.Val234Glu)
19g.15191844C>ACA404532835NOTCH3c.703G>T (p.Val235Leu)
c.700G>T (p.Val234Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.15191844C=CA2324749871NOTCH3c.703G= (p.Val235=)
c.700G= (p.Val234=)
19g.15191844C>GCA404532828NOTCH3c.703G>C (p.Val235Leu)
c.700G>C (p.Val234Leu)
19g.15191844C>TCA404532826NOTCH3c.703G>A (p.Val235Met)
c.700G>A (p.Val234Met)

Number of alleles fetched