Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15191691G>ACA9263781NOTCH3c.803-34C>T (n.803-34C>T)
c.800-34C>T (n.800-34C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191691G=CA2324749800NOTCH3c.803-34C= (n.803-34C=)
c.800-34C= (n.800-34C=)
19g.15191691G>TCA2813728451NOTCH3c.803-34C>A (n.803-34C>A)
c.800-34C>A (n.800-34C>A)
19g.15191694_15191695delCA2813728452NOTCH3c.803-36_803-35del (n.803-36_803-35del)
c.800-36_800-35del (n.800-36_800-35del)
19g.15191693C=CA2324749801NOTCH3c.803-36G= (n.803-36G=)
c.800-36G= (n.800-36G=)
19g.15191693C>TCA632128089NOTCH3c.803-36G>A (n.803-36G>A)
c.800-36G>A (n.800-36G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.15191694G>ACA9263782NOTCH3c.803-37C>T (n.803-37C>T)
c.800-37C>T (n.800-37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191694G=CA2324749802NOTCH3c.803-37C= (n.803-37C=)
c.800-37C= (n.800-37C=)
19g.15191694G>TCA2576658935NOTCH3c.803-37C>A (n.803-37C>A)
c.800-37C>A (n.800-37C>A)
 gnomAD v4
19g.15191695_15191696insTTGGTAGAGATAGGGTTTTGCCCA2583065562NOTCH3c.803-38_803-37insGCAAAACCCTATCTCTACCAAG (n.803-38_803-37insGCAAAACCCTATCTCTACCAAG)
c.800-38_800-37insGCAAAACCCTATCTCTACCAAG (n.800-38_800-37insGCAAAACCCTATCTCTACCAAG)
 gnomAD v4
19g.15191696A=CA2324749803NOTCH3c.803-39T= (n.803-39T=)
c.800-39T= (n.800-39T=)
19g.15191696A>GCA2324749804NOTCH3c.803-39T>C (n.803-39T>C)
c.800-39T>C (n.800-39T>C)
 dbSNP gnomAD v4
19g.15191697T>ACA9263783NOTCH3c.803-40A>T (n.803-40A>T)
c.800-40A>T (n.800-40A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191697T>CCA305777408NOTCH3c.803-40A>G (n.803-40A>G)
c.800-40A>G (n.800-40A>G)
 dbSNP
19g.15191697T>GCA632128090NOTCH3c.803-40A>C (n.803-40A>C)
c.800-40A>C (n.800-40A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191697T=CA2324749805NOTCH3c.803-40A= (n.803-40A=)
c.800-40A= (n.800-40A=)
19g.15191698G>ACA632128091NOTCH3c.803-41C>T (n.803-41C>T)
c.800-41C>T (n.800-41C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191698G=CA2324749806NOTCH3c.803-41C= (n.803-41C=)
c.800-41C= (n.800-41C=)
19g.15191699_15191700insTGCCCAGGCTCA2583065563NOTCH3c.803-42_803-41insGCCTGGGCAA (n.803-42_803-41insGCCTGGGCAA)
c.800-42_800-41insGCCTGGGCAA (n.800-42_800-41insGCCTGGGCAA)
 gnomAD v4
19g.15191701C>TCA2735784848NOTCH3c.803-44G>A (n.803-44G>A)
c.800-44G>A (n.800-44G>A)
 dbSNP
19g.15191702A=CA2324749807NOTCH3c.802+43T= (n.802+43T=)
c.799+43T= (n.799+43T=)
19g.15191702A>CCA2324749808NOTCH3c.802+43T>G (n.802+43T>G)
c.799+43T>G (n.799+43T>G)
 dbSNP
19g.15191703C>ACA783621399NOTCH3c.802+42G>T (n.802+42G>T)
c.799+42G>T (n.799+42G>T)
 dbSNP
19g.15191703C=CA2324749809NOTCH3c.802+42G= (n.802+42G=)
c.799+42G= (n.799+42G=)
19g.15191703C>TCA9263784NOTCH3c.802+42G>A (n.802+42G>A)
c.799+42G>A (n.799+42G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191705C=CA2324749810NOTCH3c.802+40G= (n.802+40G=)
c.799+40G= (n.799+40G=)
19g.15191705C>TCA632128092NOTCH3c.802+40G>A (n.802+40G>A)
c.799+40G>A (n.799+40G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191706G>ACA9263785NOTCH3c.802+39C>T (n.802+39C>T)
c.799+39C>T (n.799+39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191706G>CCA2735623119NOTCH3c.802+39C>G (n.802+39C>G)
c.799+39C>G (n.799+39C>G)
 dbSNP
19g.15191706G=CA2324749811NOTCH3c.802+39C= (n.802+39C=)
c.799+39C= (n.799+39C=)
19g.15191707A>TCA2735784856NOTCH3c.802+38T>A (n.802+38T>A)
c.799+38T>A (n.799+38T>A)
 dbSNP
19g.15191708G>CCA632128093NOTCH3c.802+37C>G (n.802+37C>G)
c.799+37C>G (n.799+37C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191708G=CA2324749812NOTCH3c.802+37C= (n.802+37C=)
c.799+37C= (n.799+37C=)
19g.15191708G>TCA9263786NOTCH3c.802+37C>A (n.802+37C>A)
c.799+37C>A (n.799+37C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191709G>CCA2735784886NOTCH3c.802+36C>G (n.802+36C>G)
c.799+36C>G (n.799+36C>G)
 dbSNP
19g.15191710C>ACA305777430NOTCH3c.802+35G>T (n.802+35G>T)
c.799+35G>T (n.799+35G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.15191710C=CA2324749813NOTCH3c.802+35G= (n.802+35G=)
c.799+35G= (n.799+35G=)
19g.15191710C>GCA2583065564NOTCH3c.802+35G>C (n.802+35G>C)
c.799+35G>C (n.799+35G>C)
 gnomAD v4
19g.15191710C>TCA2735633881NOTCH3c.802+35G>A (n.802+35G>A)
c.799+35G>A (n.799+35G>A)
 dbSNP
19g.15191711C>TCA2735784898NOTCH3c.802+34G>A (n.802+34G>A)
c.799+34G>A (n.799+34G>A)
 dbSNP
19g.15191712T>GCA2583065565NOTCH3c.802+33A>C (n.802+33A>C)
c.799+33A>C (n.799+33A>C)
 gnomAD v4
19g.15191713G>ACA2735784933NOTCH3c.802+32C>T (n.802+32C>T)
c.799+32C>T (n.799+32C>T)
 dbSNP
19g.15191714C>ACA2583065566NOTCH3c.802+31G>T (n.802+31G>T)
c.799+31G>T (n.799+31G>T)
 dbSNP gnomAD v4
19g.15191714C=CA2324749814NOTCH3c.802+31G= (n.802+31G=)
c.799+31G= (n.799+31G=)
19g.15191714C>GCA2735650051NOTCH3c.802+31G>C (n.802+31G>C)
c.799+31G>C (n.799+31G>C)
 dbSNP
19g.15191714C>TCA632128094NOTCH3c.802+31G>A (n.802+31G>A)
c.799+31G>A (n.799+31G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.15191715C>ACA2735784945NOTCH3c.802+30G>T (n.802+30G>T)
c.799+30G>T (n.799+30G>T)
 dbSNP
19g.15191717C>ACA2813728453NOTCH3c.802+28G>T (n.802+28G>T)
c.799+28G>T (n.799+28G>T)
19g.15191717C>GCA2583065567NOTCH3c.802+28G>C (n.802+28G>C)
c.799+28G>C (n.799+28G>C)
 gnomAD v4
19g.15191718C>TCA2735784949NOTCH3c.802+27G>A (n.802+27G>A)
c.799+27G>A (n.799+27G>A)
 dbSNP
19g.15191720C>ACA2735619896NOTCH3c.802+25G>T (n.802+25G>T)
c.799+25G>T (n.799+25G>T)
 dbSNP
19g.15191720C=CA2324749815NOTCH3c.802+25G= (n.802+25G=)
c.799+25G= (n.799+25G=)
19g.15191720C>TCA9263787NOTCH3c.802+25G>A (n.802+25G>A)
c.799+25G>A (n.799+25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191721G>ACA9263788NOTCH3c.802+24C>T (n.802+24C>T)
c.799+24C>T (n.799+24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191721G>CCA2735622787NOTCH3c.802+24C>G (n.802+24C>G)
c.799+24C>G (n.799+24C>G)
 dbSNP
19g.15191721G=CA2324749816NOTCH3c.802+24C= (n.802+24C=)
c.799+24C= (n.799+24C=)
19g.15191722C=CA2324749817NOTCH3c.802+23G= (n.802+23G=)
c.799+23G= (n.799+23G=)
19g.15191722C>TCA9263789NOTCH3c.802+23G>A (n.802+23G>A)
c.799+23G>A (n.799+23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191725C>TCA2583065568NOTCH3c.802+20G>A (n.802+20G>A)
c.799+20G>A (n.799+20G>A)
 dbSNP gnomAD v4
19g.15191726C=CA2324749818NOTCH3c.802+19G= (n.802+19G=)
c.799+19G= (n.799+19G=)
19g.15191726C>GCA783621400NOTCH3c.802+19G>C (n.802+19G>C)
c.799+19G>C (n.799+19G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.15191728C>ACA2735784950NOTCH3c.802+17G>T (n.802+17G>T)
c.799+17G>T (n.799+17G>T)
 dbSNP
19g.15191731G>CCA632128095NOTCH3c.802+14C>G (n.802+14C>G)
c.799+14C>G (n.799+14C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.15191731G=CA2324749819NOTCH3c.802+14C= (n.802+14C=)
c.799+14C= (n.799+14C=)
19g.15191731G>TCA2576658936NOTCH3c.802+14C>A (n.802+14C>A)
c.799+14C>A (n.799+14C>A)
19g.15191732C>TCA2735784966NOTCH3c.802+13G>A (n.802+13G>A)
c.799+13G>A (n.799+13G>A)
 dbSNP
19g.15191733C=CA2324749820NOTCH3c.802+12G= (n.802+12G=)
c.799+12G= (n.799+12G=)
19g.15191733C>TCA9263790NOTCH3c.802+12G>A (n.802+12G>A)
c.799+12G>A (n.799+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191734G>ACA632128096NOTCH3c.802+11C>T (n.802+11C>T)
c.799+11C>T (n.799+11C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191734G>CCA2735637608NOTCH3c.802+11C>G (n.802+11C>G)
c.799+11C>G (n.799+11C>G)
 dbSNP
19g.15191734G=CA2324749821NOTCH3c.802+11C= (n.802+11C=)
c.799+11C= (n.799+11C=)
19g.15191734G>TCA2813728454NOTCH3c.802+11C>A (n.802+11C>A)
c.799+11C>A (n.799+11C>A)
19g.15191734_15191735delinsGCCA2324749822NOTCH3c.802+10_802+11delinsGC (n.802+10_802+11delinsGC)
c.799+10_799+11delinsGC (n.799+10_799+11delinsGC)
19g.15191735delCA2324749823NOTCH3c.802+10del (n.802+10del)
c.799+10del (n.799+10del)
 dbSNP
19g.15191736A>GCA2735784970NOTCH3c.802+9T>C (n.802+9T>C)
c.799+9T>C (n.799+9T>C)
 dbSNP
19g.15191736dupCA2583065570NOTCH3c.802+9dup (n.802+9dup)
c.799+9dup (n.799+9dup)
 gnomAD v4
19g.15191737G>ACA2735784975NOTCH3c.802+8C>T (n.802+8C>T)
c.799+8C>T (n.799+8C>T)
 dbSNP
19g.15191738T>GCA2583065571NOTCH3c.802+7A>C (n.802+7A>C)
c.799+7A>C (n.799+7A>C)
 gnomAD v4
19g.15191739G>ACA2735671190NOTCH3c.802+6C>T (n.802+6C>T)
c.799+6C>T (n.799+6C>T)
 dbSNP
19g.15191739G>CCA993898900NOTCH3c.802+6C>G (n.802+6C>G)
c.799+6C>G (n.799+6C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.15191739G=CA2324749824NOTCH3c.802+6C= (n.802+6C=)
c.799+6C= (n.799+6C=)
19g.15191740C=CA2324749825NOTCH3c.802+5G= (n.802+5G=)
c.799+5G= (n.799+5G=)
19g.15191740C>TCA783621401NOTCH3c.802+5G>A (n.802+5G>A)
c.799+5G>A (n.799+5G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.15191741C=CA2324749826NOTCH3c.802+4G= (n.802+4G=)
c.799+4G= (n.799+4G=)
19g.15191741C>TCA9263791NOTCH3c.802+4G>A (n.802+4G>A)
c.799+4G>A (n.799+4G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191742C>ACA2735784992NOTCH3c.802+3G>T (n.802+3G>T)
c.799+3G>T (n.799+3G>T)
 dbSNP
19g.15191742C>TCA2576658937NOTCH3c.802+3G>A (n.802+3G>A)
c.799+3G>A (n.799+3G>A)
 gnomAD v4
19g.15191743A=CA2324749827NOTCH3c.802+2T= (n.802+2T=)
c.799+2T= (n.799+2T=)
19g.15191743A>CCA404532081NOTCH3c.802+2T>G (n.802+2T>G)
c.799+2T>G (n.799+2T>G)
 dbSNP gnomAD v4
19g.15191743A>GCA404532086NOTCH3c.802+2T>C (n.802+2T>C)
c.799+2T>C (n.799+2T>C)
19g.15191743A>TCA404532089NOTCH3c.802+2T>A (n.802+2T>A)
c.799+2T>A (n.799+2T>A)
 dbSNP
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=)

Number of alleles fetched