Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15180090dupCA2583062771NOTCH3c.3314dup (p.Tyr1106LeufsTer4)
c.3155dup (p.Tyr1053LeufsTer4)
c.3158dup (p.Tyr1054LeufsTer4)
 gnomAD v4
19g.15180090delCA645600796NOTCH3c.3314del (p.Gly1105AlafsTer?)
c.3155del (p.Gly1052AlafsTer?)
c.3158del (p.Gly1053AlafsTer?)
 dbSNP COSMIC COSMIC
19g.15180090C>ACA404512953NOTCH3c.3309G>T (p.Met1103Ile)
c.3150G>T (p.Met1050Ile)
c.3153G>T (p.Met1051Ile)
 COSMIC COSMIC
19g.15180090C=CA2324744231NOTCH3c.3309G= (p.Met1103=)
c.3150G= (p.Met1050=)
c.3153G= (p.Met1051=)
19g.15180090C>GCA404512957NOTCH3c.3309G>C (p.Met1103Ile)
c.3150G>C (p.Met1050Ile)
c.3153G>C (p.Met1051Ile)
19g.15180090C>TCA404512961NOTCH3c.3309G>A (p.Met1103Ile)
c.3150G>A (p.Met1050Ile)
c.3153G>A (p.Met1051Ile)
 ClinVar dbSNP gnomAD v4
19g.15180091A=CA2324744232NOTCH3c.3308T= (p.Met1103=)
c.3149T= (p.Met1050=)
c.3152T= (p.Met1051=)
19g.15180091A>CCA404512964NOTCH3c.3308T>G (p.Met1103Arg)
c.3149T>G (p.Met1050Arg)
c.3152T>G (p.Met1051Arg)
19g.15180091A>GCA9263135NOTCH3c.3308T>C (p.Met1103Thr)
c.3149T>C (p.Met1050Thr)
c.3152T>C (p.Met1051Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180091A>TCA404512968NOTCH3c.3308T>A (p.Met1103Lys)
c.3149T>A (p.Met1050Lys)
c.3152T>A (p.Met1051Lys)
19g.15180092T>ACA404512973NOTCH3c.3307A>T (p.Met1103Leu)
c.3148A>T (p.Met1050Leu)
c.3151A>T (p.Met1051Leu)
 dbSNP
19g.15180092T>CCA9263136NOTCH3c.3307A>G (p.Met1103Val)
c.3148A>G (p.Met1050Val)
c.3151A>G (p.Met1051Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180092T>GCA404512976NOTCH3c.3307A>C (p.Met1103Leu)
c.3148A>C (p.Met1050Leu)
c.3151A>C (p.Met1051Leu)
19g.15180092T=CA2324744233NOTCH3c.3307A= (p.Met1103=)
c.3148A= (p.Met1050=)
c.3151A= (p.Met1051=)
19g.15180093A>CCA404512978NOTCH3c.3306T>G (p.Tyr1102Ter)
c.3147T>G (p.Tyr1049Ter)
c.3150T>G (p.Tyr1050Ter)
19g.15180093A>GCA505824183NOTCH3c.3306T>C (p.Tyr1102=)
c.3147T>C (p.Tyr1049=)
c.3150T>C (p.Tyr1050=)
19g.15180093A>TCA404512979NOTCH3c.3306T>A (p.Tyr1102Ter)
c.3147T>A (p.Tyr1049Ter)
c.3150T>A (p.Tyr1050Ter)
19g.15180094T>ACA9263137NOTCH3c.3305A>T (p.Tyr1102Phe)
c.3146A>T (p.Tyr1049Phe)
c.3149A>T (p.Tyr1050Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180094T>CCA404512986NOTCH3c.3305A>G (p.Tyr1102Cys)
c.3146A>G (p.Tyr1049Cys)
c.3149A>G (p.Tyr1050Cys)
 gnomAD v4
19g.15180094T>GCA404512982NOTCH3c.3305A>C (p.Tyr1102Ser)
c.3146A>C (p.Tyr1049Ser)
c.3149A>C (p.Tyr1050Ser)
19g.15180094T=CA2324744234NOTCH3c.3305A= (p.Tyr1102=)
c.3146A= (p.Tyr1049=)
c.3149A= (p.Tyr1050=)
19g.15180095A>CCA404512989NOTCH3c.3304T>G (p.Tyr1102Asp)
c.3145T>G (p.Tyr1049Asp)
c.3148T>G (p.Tyr1050Asp)
19g.15180095A>GCA404512992NOTCH3c.3304T>C (p.Tyr1102His)
c.3145T>C (p.Tyr1049His)
c.3148T>C (p.Tyr1050His)
 gnomAD v4
19g.15180095A>TCA404512993NOTCH3c.3304T>A (p.Tyr1102Asn)
c.3145T>A (p.Tyr1049Asn)
c.3148T>A (p.Tyr1050Asn)
 dbSNP
19g.15180096G>ACA505824191NOTCH3c.3303C>T (p.Gly1101=)
c.3144C>T (p.Gly1048=)
c.3147C>T (p.Gly1049=)
19g.15180096G>CCA505824192NOTCH3c.3303C>G (p.Gly1101=)
c.3144C>G (p.Gly1048=)
c.3147C>G (p.Gly1049=)
 gnomAD v4
19g.15180096G>TCA505824194NOTCH3c.3303C>A (p.Gly1101=)
c.3144C>A (p.Gly1048=)
c.3147C>A (p.Gly1049=)
19g.15180097C>ACA404512998NOTCH3c.3302G>T (p.Gly1101Val)
c.3143G>T (p.Gly1048Val)
c.3146G>T (p.Gly1049Val)
19g.15180097C>GCA404513000NOTCH3c.3302G>C (p.Gly1101Ala)
c.3143G>C (p.Gly1048Ala)
c.3146G>C (p.Gly1049Ala)
19g.15180097C>TCA404513001NOTCH3c.3302G>A (p.Gly1101Asp)
c.3143G>A (p.Gly1048Asp)
c.3146G>A (p.Gly1049Asp)
 dbSNP gnomAD v4
19g.15180098C>ACA404513002NOTCH3c.3301G>T (p.Gly1101Cys)
c.3142G>T (p.Gly1048Cys)
c.3145G>T (p.Gly1049Cys)
 gnomAD v4
19g.15180098C=CA2324744235NOTCH3c.3301G= (p.Gly1101=)
c.3142G= (p.Gly1048=)
c.3145G= (p.Gly1049=)
19g.15180098C>GCA404513003NOTCH3c.3301G>C (p.Gly1101Arg)
c.3142G>C (p.Gly1048Arg)
c.3145G>C (p.Gly1049Arg)
19g.15180098C>TCA404513005NOTCH3c.3301G>A (p.Gly1101Ser)
c.3142G>A (p.Gly1048Ser)
c.3145G>A (p.Gly1049Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.15180099A>CCA505824201NOTCH3c.3300T>G (p.Arg1100=)
c.3141T>G (p.Arg1047=)
c.3144T>G (p.Arg1048=)
19g.15180099A>GCA505824199NOTCH3c.3300T>C (p.Arg1100=)
c.3141T>C (p.Arg1047=)
c.3144T>C (p.Arg1048=)
19g.15180099A>TCA505824204NOTCH3c.3300T>A (p.Arg1100=)
c.3141T>A (p.Arg1047=)
c.3144T>A (p.Arg1048=)
19g.15180100C>ACA404513007NOTCH3c.3299G>T (p.Arg1100Leu)
c.3140G>T (p.Arg1047Leu)
c.3143G>T (p.Arg1048Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.15180100C=CA2324744236NOTCH3c.3299G= (p.Arg1100=)
c.3140G= (p.Arg1047=)
c.3143G= (p.Arg1048=)
19g.15180100C>GCA404513010NOTCH3c.3299G>C (p.Arg1100Pro)
c.3140G>C (p.Arg1047Pro)
c.3143G>C (p.Arg1048Pro)
 gnomAD v4
19g.15180100C>TCA9263138NOTCH3c.3299G>A (p.Arg1100His)
c.3140G>A (p.Arg1047His)
c.3143G>A (p.Arg1048His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15180101G>ACA305769949NOTCH3c.3298C>T (p.Arg1100Cys)
c.3139C>T (p.Arg1047Cys)
c.3142C>T (p.Arg1048Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.15180101G>CCA404513018NOTCH3c.3298C>G (p.Arg1100Gly)
c.3139C>G (p.Arg1047Gly)
c.3142C>G (p.Arg1048Gly)
 dbSNP
19g.15180101G=CA2324744237NOTCH3c.3298C= (p.Arg1100=)
c.3139C= (p.Arg1047=)
c.3142C= (p.Arg1048=)
19g.15180101G>TCA404513014NOTCH3c.3298C>A (p.Arg1100Ser)
c.3139C>A (p.Arg1047Ser)
c.3142C>A (p.Arg1048Ser)
19g.15180102G>ACA505824208NOTCH3c.3297C>T (p.Cys1099=)
c.3138C>T (p.Cys1046=)
c.3141C>T (p.Cys1047=)
 dbSNP
19g.15180102G>CCA404513025NOTCH3c.3297C>G (p.Cys1099Trp)
c.3138C>G (p.Cys1046Trp)
c.3141C>G (p.Cys1047Trp)
19g.15180102G>TCA404513028NOTCH3c.3297C>A (p.Cys1099Ter)
c.3138C>A (p.Cys1046Ter)
c.3141C>A (p.Cys1047Ter)
19g.15180103C>ACA404513031NOTCH3c.3296G>T (p.Cys1099Phe)
c.3137G>T (p.Cys1046Phe)
c.3140G>T (p.Cys1047Phe)
19g.15180103C=CA2324744238NOTCH3c.3296G= (p.Cys1099=)
c.3137G= (p.Cys1046=)
c.3140G= (p.Cys1047=)
19g.15180103C>GCA404513033NOTCH3c.3296G>C (p.Cys1099Ser)
c.3137G>C (p.Cys1046Ser)
c.3140G>C (p.Cys1047Ser)
19g.15180103C>TCA404513034NOTCH3c.3296G>A (p.Cys1099Tyr)
c.3137G>A (p.Cys1046Tyr)
c.3140G>A (p.Cys1047Tyr)
 ClinVar dbSNP gnomAD v4
19g.15180104A>CCA404513035NOTCH3c.3295T>G (p.Cys1099Gly)
c.3136T>G (p.Cys1046Gly)
c.3139T>G (p.Cys1047Gly)
19g.15180104A>GCA404513037NOTCH3c.3295T>C (p.Cys1099Arg)
c.3136T>C (p.Cys1046Arg)
c.3139T>C (p.Cys1047Arg)
19g.15180104A>TCA404513042NOTCH3c.3295T>A (p.Cys1099Ser)
c.3136T>A (p.Cys1046Ser)
c.3139T>A (p.Cys1047Ser)
19g.15180105G>ACA505824215NOTCH3c.3294C>T (p.Thr1098=)
c.3135C>T (p.Thr1045=)
c.3138C>T (p.Thr1046=)
19g.15180105G>CCA505824211NOTCH3c.3294C>G (p.Thr1098=)
c.3135C>G (p.Thr1045=)
c.3138C>G (p.Thr1046=)
19g.15180105G=CA2324744239NOTCH3c.3294C= (p.Thr1098=)
c.3135C= (p.Thr1045=)
c.3138C= (p.Thr1046=)
19g.15180105G>TCA9263139NOTCH3c.3294C>A (p.Thr1098=)
c.3135C>A (p.Thr1045=)
c.3138C>A (p.Thr1046=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180106G>ACA404513045NOTCH3c.3293C>T (p.Thr1098Ile)
c.3134C>T (p.Thr1045Ile)
c.3137C>T (p.Thr1046Ile)
 gnomAD v4
19g.15180106G>CCA404513049NOTCH3c.3293C>G (p.Thr1098Ser)
c.3134C>G (p.Thr1045Ser)
c.3137C>G (p.Thr1046Ser)
 dbSNP
19g.15180106G=CA2324744240NOTCH3c.3293C= (p.Thr1098=)
c.3134C= (p.Thr1045=)
c.3137C= (p.Thr1046=)
19g.15180106G>TCA9263140NOTCH3c.3293C>A (p.Thr1098Asn)
c.3134C>A (p.Thr1045Asn)
c.3137C>A (p.Thr1046Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180107T>ACA404513053NOTCH3c.3292A>T (p.Thr1098Ser)
c.3133A>T (p.Thr1045Ser)
c.3136A>T (p.Thr1046Ser)
 dbSNP
19g.15180107T>CCA404513057NOTCH3c.3292A>G (p.Thr1098Ala)
c.3133A>G (p.Thr1045Ala)
c.3136A>G (p.Thr1046Ala)
19g.15180107T>GCA404513058NOTCH3c.3292A>C (p.Thr1098Pro)
c.3133A>C (p.Thr1045Pro)
c.3136A>C (p.Thr1046Pro)
 dbSNP gnomAD v3 gnomAD v4
19g.15180107T=CA2324744241NOTCH3c.3292A= (p.Thr1098=)
c.3133A= (p.Thr1045=)
c.3136A= (p.Thr1046=)
19g.15180108C>ACA9263141NOTCH3c.3291G>T (p.Gly1097=)
c.3132G>T (p.Gly1044=)
c.3135G>T (p.Gly1045=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180108C=CA2324744242NOTCH3c.3291G= (p.Gly1097=)
c.3132G= (p.Gly1044=)
c.3135G= (p.Gly1045=)
19g.15180108C>GCA505824222NOTCH3c.3291G>C (p.Gly1097=)
c.3132G>C (p.Gly1044=)
c.3135G>C (p.Gly1045=)
19g.15180108C>TCA505824223NOTCH3c.3291G>A (p.Gly1097=)
c.3132G>A (p.Gly1044=)
c.3135G>A (p.Gly1045=)
19g.15180113dupCA2813714774NOTCH3c.3291dup (p.Thr1098AspfsTer12)
c.3132dup (p.Thr1045AspfsTer12)
c.3135dup (p.Thr1046AspfsTer12)
19g.15180113delCA505824225NOTCH3c.3291del (p.Thr1098ProfsTer?)
c.3132del (p.Thr1045ProfsTer?)
c.3135del (p.Thr1046ProfsTer?)
 COSMIC COSMIC
19g.15180109C>ACA404513063NOTCH3c.3290G>T (p.Gly1097Val)
c.3131G>T (p.Gly1044Val)
c.3134G>T (p.Gly1045Val)
19g.15180109C>GCA404513066NOTCH3c.3290G>C (p.Gly1097Ala)
c.3131G>C (p.Gly1044Ala)
c.3134G>C (p.Gly1045Ala)
19g.15180109C>TCA404513070NOTCH3c.3290G>A (p.Gly1097Glu)
c.3131G>A (p.Gly1044Glu)
c.3134G>A (p.Gly1045Glu)
19g.15180110C>ACA404513073NOTCH3c.3289G>T (p.Gly1097Trp)
c.3130G>T (p.Gly1044Trp)
c.3133G>T (p.Gly1045Trp)
19g.15180110C=CA2324744243NOTCH3c.3289G= (p.Gly1097=)
c.3130G= (p.Gly1044=)
c.3133G= (p.Gly1045=)
19g.15180110C>GCA404513075NOTCH3c.3289G>C (p.Gly1097Arg)
c.3130G>C (p.Gly1044Arg)
c.3133G>C (p.Gly1045Arg)
19g.15180110C>TCA9263142NOTCH3c.3289G>A (p.Gly1097Arg)
c.3130G>A (p.Gly1044Arg)
c.3133G>A (p.Gly1045Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180111C>ACA505824230NOTCH3c.3288G>T (p.Gly1096=)
c.3129G>T (p.Gly1043=)
c.3132G>T (p.Gly1044=)
 COSMIC COSMIC
19g.15180111C>GCA505824232NOTCH3c.3288G>C (p.Gly1096=)
c.3129G>C (p.Gly1043=)
c.3132G>C (p.Gly1044=)
19g.15180111C>TCA505824234NOTCH3c.3288G>A (p.Gly1096=)
c.3129G>A (p.Gly1043=)
c.3132G>A (p.Gly1044=)
19g.15180112C>ACA9263143NOTCH3c.3287G>T (p.Gly1096Val)
c.3128G>T (p.Gly1043Val)
c.3131G>T (p.Gly1044Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180112C=CA2324744244NOTCH3c.3287G= (p.Gly1096=)
c.3128G= (p.Gly1043=)
c.3131G= (p.Gly1044=)
19g.15180112C>GCA404513082NOTCH3c.3287G>C (p.Gly1096Ala)
c.3128G>C (p.Gly1043Ala)
c.3131G>C (p.Gly1044Ala)
19g.15180112C>TCA404513085NOTCH3c.3287G>A (p.Gly1096Glu)
c.3128G>A (p.Gly1043Glu)
c.3131G>A (p.Gly1044Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.15180113C>ACA404513092NOTCH3c.3286G>T (p.Gly1096Trp)
c.3127G>T (p.Gly1043Trp)
c.3130G>T (p.Gly1044Trp)
19g.15180113C=CA2324744245NOTCH3c.3286G= (p.Gly1096=)
c.3127G= (p.Gly1043=)
c.3130G= (p.Gly1044=)
19g.15180113C>GCA404513089NOTCH3c.3286G>C (p.Gly1096Arg)
c.3127G>C (p.Gly1043Arg)
c.3130G>C (p.Gly1044Arg)
19g.15180113C>TCA404513088NOTCH3c.3286G>A (p.Gly1096Arg)
c.3127G>A (p.Gly1043Arg)
c.3130G>A (p.Gly1044Arg)
 dbSNP gnomAD v4
19g.15180114A=CA2324744246NOTCH3c.3285T= (p.His1095=)
c.3126T= (p.His1042=)
c.3129T= (p.His1043=)
19g.15180114A>CCA404513094NOTCH3c.3285T>G (p.His1095Gln)
c.3126T>G (p.His1042Gln)
c.3129T>G (p.His1043Gln)
19g.15180114A>GCA505824236NOTCH3c.3285T>C (p.His1095=)
c.3126T>C (p.His1042=)
c.3129T>C (p.His1043=)
 dbSNP
19g.15180114A>TCA9263144NOTCH3c.3285T>A (p.His1095Gln)
c.3126T>A (p.His1042Gln)
c.3129T>A (p.His1043Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180115T>ACA404513097NOTCH3c.3284A>T (p.His1095Leu)
c.3125A>T (p.His1042Leu)
c.3128A>T (p.His1043Leu)
19g.15180115T>CCA404513099NOTCH3c.3284A>G (p.His1095Arg)
c.3125A>G (p.His1042Arg)
c.3128A>G (p.His1043Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.15180115T>GCA404513100NOTCH3c.3284A>C (p.His1095Pro)
c.3125A>C (p.His1042Pro)
c.3128A>C (p.His1043Pro)
19g.15180115T=CA2324744247NOTCH3c.3284A= (p.His1095=)
c.3125A= (p.His1042=)
c.3128A= (p.His1043=)
19g.15180116G>ACA404513103NOTCH3c.3283C>T (p.His1095Tyr)
c.3124C>T (p.His1042Tyr)
c.3127C>T (p.His1043Tyr)
19g.15180116G>CCA404513106NOTCH3c.3283C>G (p.His1095Asp)
c.3124C>G (p.His1042Asp)
c.3127C>G (p.His1043Asp)
19g.15180116G>TCA404513109NOTCH3c.3283C>A (p.His1095Asn)
c.3124C>A (p.His1042Asn)
c.3127C>A (p.His1043Asn)
19g.15180117C>ACA404513122NOTCH3c.3282G>T (p.Gln1094His)
c.3123G>T (p.Gln1041His)
c.3126G>T (p.Gln1042His)
 dbSNP
19g.15180117C=CA2324744248NOTCH3c.3282G= (p.Gln1094=)
c.3123G= (p.Gln1041=)
c.3126G= (p.Gln1042=)
19g.15180117C>GCA404513124NOTCH3c.3282G>C (p.Gln1094His)
c.3123G>C (p.Gln1041His)
c.3126G>C (p.Gln1042His)
19g.15180117C>TCA505824243NOTCH3c.3282G>A (p.Gln1094=)
c.3123G>A (p.Gln1041=)
c.3126G>A (p.Gln1042=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180118T>ACA404513127NOTCH3c.3281A>T (p.Gln1094Leu)
c.3122A>T (p.Gln1041Leu)
c.3125A>T (p.Gln1042Leu)
19g.15180118T>CCA404513130NOTCH3c.3281A>G (p.Gln1094Arg)
c.3122A>G (p.Gln1041Arg)
c.3125A>G (p.Gln1042Arg)
19g.15180118T>GCA404513133NOTCH3c.3281A>C (p.Gln1094Pro)
c.3122A>C (p.Gln1041Pro)
c.3125A>C (p.Gln1042Pro)
19g.15180119G>ACA404513142NOTCH3c.3280C>T (p.Gln1094Ter)
c.3121C>T (p.Gln1041Ter)
c.3124C>T (p.Gln1042Ter)
 dbSNP COSMIC COSMIC
19g.15180119G>CCA404513144NOTCH3c.3280C>G (p.Gln1094Glu)
c.3121C>G (p.Gln1041Glu)
c.3124C>G (p.Gln1042Glu)
19g.15180119G>TCA404513135NOTCH3c.3280C>A (p.Gln1094Lys)
c.3121C>A (p.Gln1041Lys)
c.3124C>A (p.Gln1042Lys)
19g.15180120G>ACA505824249NOTCH3c.3279C>T (p.Cys1093=)
c.3120C>T (p.Cys1040=)
c.3123C>T (p.Cys1041=)
 dbSNP
19g.15180120G>CCA404513146NOTCH3c.3279C>G (p.Cys1093Trp)
c.3120C>G (p.Cys1040Trp)
c.3123C>G (p.Cys1041Trp)
 dbSNP
19g.15180120G>TCA404513145NOTCH3c.3279C>A (p.Cys1093Ter)
c.3120C>A (p.Cys1040Ter)
c.3123C>A (p.Cys1041Ter)
19g.15180121C>ACA404513154NOTCH3c.3278G>T (p.Cys1093Phe)
c.3119G>T (p.Cys1040Phe)
c.3122G>T (p.Cys1041Phe)
19g.15180121C=CA2324744249NOTCH3c.3278G= (p.Cys1093=)
c.3119G= (p.Cys1040=)
c.3122G= (p.Cys1041=)
19g.15180121C>GCA404513149NOTCH3c.3278G>C (p.Cys1093Ser)
c.3119G>C (p.Cys1040Ser)
c.3122G>C (p.Cys1041Ser)
19g.15180121C>TCA404513152NOTCH3c.3278G>A (p.Cys1093Tyr)
c.3119G>A (p.Cys1040Tyr)
c.3122G>A (p.Cys1041Tyr)
 dbSNP gnomAD v2
19g.15180122A>CCA404513161NOTCH3c.3277T>G (p.Cys1093Gly)
c.3118T>G (p.Cys1040Gly)
c.3121T>G (p.Cys1041Gly)
19g.15180122A>GCA404513165NOTCH3c.3277T>C (p.Cys1093Arg)
c.3118T>C (p.Cys1040Arg)
c.3121T>C (p.Cys1041Arg)
19g.15180122A>TCA404513169NOTCH3c.3277T>A (p.Cys1093Ser)
c.3118T>A (p.Cys1040Ser)
c.3121T>A (p.Cys1041Ser)
19g.15180123G>ACA505824255NOTCH3c.3276C>T (p.Pro1092=)
c.3117C>T (p.Pro1039=)
c.3120C>T (p.Pro1040=)
 dbSNP
19g.15180123G>CCA9263145NOTCH3c.3276C>G (p.Pro1092=)
c.3117C>G (p.Pro1039=)
c.3120C>G (p.Pro1040=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180123G=CA2324744250NOTCH3c.3276C= (p.Pro1092=)
c.3117C= (p.Pro1039=)
c.3120C= (p.Pro1040=)
19g.15180123G>TCA505824260NOTCH3c.3276C>A (p.Pro1092=)
c.3117C>A (p.Pro1039=)
c.3120C>A (p.Pro1040=)
19g.15180124G>ACA404513176NOTCH3c.3275C>T (p.Pro1092Leu)
c.3116C>T (p.Pro1039Leu)
c.3119C>T (p.Pro1040Leu)
19g.15180124G>CCA404513178NOTCH3c.3275C>G (p.Pro1092Arg)
c.3116C>G (p.Pro1039Arg)
c.3119C>G (p.Pro1040Arg)
19g.15180124G>TCA404513180NOTCH3c.3275C>A (p.Pro1092His)
c.3116C>A (p.Pro1039His)
c.3119C>A (p.Pro1040His)
19g.15180125G>ACA404513182NOTCH3c.3274C>T (p.Pro1092Ser)
c.3115C>T (p.Pro1039Ser)
c.3118C>T (p.Pro1040Ser)
 dbSNP
19g.15180125G>CCA404513185NOTCH3c.3274C>G (p.Pro1092Ala)
c.3115C>G (p.Pro1039Ala)
c.3118C>G (p.Pro1040Ala)
19g.15180125G>TCA404513193NOTCH3c.3274C>A (p.Pro1092Thr)
c.3115C>A (p.Pro1039Thr)
c.3118C>A (p.Pro1040Thr)
19g.15180126C>ACA404513209NOTCH3c.3273G>T (p.Gln1091His)
c.3114G>T (p.Gln1038His)
c.3117G>T (p.Gln1039His)
19g.15180126C>GCA404513204NOTCH3c.3273G>C (p.Gln1091His)
c.3114G>C (p.Gln1038His)
c.3117G>C (p.Gln1039His)
 dbSNP
19g.15180126C>TCA505824263NOTCH3c.3273G>A (p.Gln1091=)
c.3114G>A (p.Gln1038=)
c.3117G>A (p.Gln1039=)
19g.15180127T>ACA404513212NOTCH3c.3272A>T (p.Gln1091Leu)
c.3113A>T (p.Gln1038Leu)
c.3116A>T (p.Gln1039Leu)
19g.15180127T>CCA404513214NOTCH3c.3272A>G (p.Gln1091Arg)
c.3113A>G (p.Gln1038Arg)
c.3116A>G (p.Gln1039Arg)
19g.15180127T>GCA404513218NOTCH3c.3272A>C (p.Gln1091Pro)
c.3113A>C (p.Gln1038Pro)
c.3116A>C (p.Gln1039Pro)
19g.15180128G>ACA404513220NOTCH3c.3271C>T (p.Gln1091Ter)
c.3112C>T (p.Gln1038Ter)
c.3115C>T (p.Gln1039Ter)
19g.15180128G>CCA404513225NOTCH3c.3271C>G (p.Gln1091Glu)
c.3112C>G (p.Gln1038Glu)
c.3115C>G (p.Gln1039Glu)
19g.15180128G>TCA404513228NOTCH3c.3271C>A (p.Gln1091Lys)
c.3112C>A (p.Gln1038Lys)
c.3115C>A (p.Gln1039Lys)
19g.15180129G>ACA505824270NOTCH3c.3270C>T (p.Ala1090=)
c.3111C>T (p.Ala1037=)
c.3114C>T (p.Ala1038=)
 dbSNP gnomAD v4
19g.15180129G>CCA505824273NOTCH3c.3270C>G (p.Ala1090=)
c.3111C>G (p.Ala1037=)
c.3114C>G (p.Ala1038=)
19g.15180129G>TCA505824274NOTCH3c.3270C>A (p.Ala1090=)
c.3111C>A (p.Ala1037=)
c.3114C>A (p.Ala1038=)
19g.15180130G>ACA9263146NOTCH3c.3269C>T (p.Ala1090Val)
c.3110C>T (p.Ala1037Val)
c.3113C>T (p.Ala1038Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180130G>CCA305769975NOTCH3c.3269C>G (p.Ala1090Gly)
c.3110C>G (p.Ala1037Gly)
c.3113C>G (p.Ala1038Gly)
 dbSNP
19g.15180130G=CA2324744251NOTCH3c.3269C= (p.Ala1090=)
c.3110C= (p.Ala1037=)
c.3113C= (p.Ala1038=)
19g.15180130G>TCA404513236NOTCH3c.3269C>A (p.Ala1090Asp)
c.3110C>A (p.Ala1037Asp)
c.3113C>A (p.Ala1038Asp)
 gnomAD v4
19g.15180131C>ACA404513237NOTCH3c.3268G>T (p.Ala1090Ser)
c.3109G>T (p.Ala1037Ser)
c.3112G>T (p.Ala1038Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.15180131C=CA2324744252NOTCH3c.3268G= (p.Ala1090=)
c.3109G= (p.Ala1037=)
c.3112G= (p.Ala1038=)
19g.15180131C>GCA404513239NOTCH3c.3268G>C (p.Ala1090Pro)
c.3109G>C (p.Ala1037Pro)
c.3112G>C (p.Ala1038Pro)
 dbSNP
19g.15180131C>TCA404513241NOTCH3c.3268G>A (p.Ala1090Thr)
c.3109G>A (p.Ala1037Thr)
c.3112G>A (p.Ala1038Thr)
 gnomAD v4
19g.15180132C>ACA404513244NOTCH3c.3267G>T (p.Leu1089Phe)
c.3108G>T (p.Leu1036Phe)
c.3111G>T (p.Leu1037Phe)
19g.15180132C>GCA404513243NOTCH3c.3267G>C (p.Leu1089Phe)
c.3108G>C (p.Leu1036Phe)
c.3111G>C (p.Leu1037Phe)
 dbSNP
19g.15180132C>TCA505824280NOTCH3c.3267G>A (p.Leu1089=)
c.3108G>A (p.Leu1036=)
c.3111G>A (p.Leu1037=)
19g.15180133A>CCA404513245NOTCH3c.3266T>G (p.Leu1089Trp)
c.3107T>G (p.Leu1036Trp)
c.3110T>G (p.Leu1037Trp)
19g.15180133A>GCA404513246NOTCH3c.3266T>C (p.Leu1089Ser)
c.3107T>C (p.Leu1036Ser)
c.3110T>C (p.Leu1037Ser)
19g.15180133A>TCA404513248NOTCH3c.3266T>A (p.Leu1089Ter)
c.3107T>A (p.Leu1036Ter)
c.3110T>A (p.Leu1037Ter)
19g.15180134A=CA2324744253NOTCH3c.3265T= (p.Leu1089=)
c.3106T= (p.Leu1036=)
c.3109T= (p.Leu1037=)
19g.15180134A>CCA404513250NOTCH3c.3265T>G (p.Leu1089Val)
c.3106T>G (p.Leu1036Val)
c.3109T>G (p.Leu1037Val)
19g.15180134A>GCA505824283NOTCH3c.3265T>C (p.Leu1089=)
c.3106T>C (p.Leu1036=)
c.3109T>C (p.Leu1037=)
 dbSNP gnomAD v2 gnomAD v4
19g.15180134A>TCA404513252NOTCH3c.3265T>A (p.Leu1089Met)
c.3106T>A (p.Leu1036Met)
c.3109T>A (p.Leu1037Met)
19g.15180135G>ACA505824285NOTCH3c.3264C>T (p.Cys1088=)
c.3105C>T (p.Cys1035=)
c.3108C>T (p.Cys1036=)
 gnomAD v4
19g.15180135G>CCA404513255NOTCH3c.3264C>G (p.Cys1088Trp)
c.3105C>G (p.Cys1035Trp)
c.3108C>G (p.Cys1036Trp)
19g.15180135G>TCA404513256NOTCH3c.3264C>A (p.Cys1088Ter)
c.3105C>A (p.Cys1035Ter)
c.3108C>A (p.Cys1036Ter)
19g.15180136C>ACA404513259NOTCH3c.3263G>T (p.Cys1088Phe)
c.3104G>T (p.Cys1035Phe)
c.3107G>T (p.Cys1036Phe)
19g.15180136C>GCA404513267NOTCH3c.3263G>C (p.Cys1088Ser)
c.3104G>C (p.Cys1035Ser)
c.3107G>C (p.Cys1036Ser)
19g.15180136C>TCA404513261NOTCH3c.3263G>A (p.Cys1088Tyr)
c.3104G>A (p.Cys1035Tyr)
c.3107G>A (p.Cys1036Tyr)
 dbSNP
19g.15180137A>CCA404513268NOTCH3c.3262T>G (p.Cys1088Gly)
c.3103T>G (p.Cys1035Gly)
c.3106T>G (p.Cys1036Gly)
19g.15180137A>GCA404513270NOTCH3c.3262T>C (p.Cys1088Arg)
c.3103T>C (p.Cys1035Arg)
c.3106T>C (p.Cys1036Arg)
19g.15180137A>TCA404513271NOTCH3c.3262T>A (p.Cys1088Ser)
c.3103T>A (p.Cys1035Ser)
c.3106T>A (p.Cys1036Ser)
19g.15180138G>ACA9263147NOTCH3c.3261C>T (p.Pro1087=)
c.3102C>T (p.Pro1034=)
c.3105C>T (p.Pro1035=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180138G>CCA505824287NOTCH3c.3261C>G (p.Pro1087=)
c.3102C>G (p.Pro1034=)
c.3105C>G (p.Pro1035=)
19g.15180138G=CA2324744254NOTCH3c.3261C= (p.Pro1087=)
c.3102C= (p.Pro1034=)
c.3105C= (p.Pro1035=)
19g.15180138G>TCA505824288NOTCH3c.3261C>A (p.Pro1087=)
c.3102C>A (p.Pro1034=)
c.3105C>A (p.Pro1035=)
19g.15180139G>ACA404513274NOTCH3c.3260C>T (p.Pro1087Leu)
c.3101C>T (p.Pro1034Leu)
c.3104C>T (p.Pro1035Leu)
19g.15180139G>CCA404513278NOTCH3c.3260C>G (p.Pro1087Arg)
c.3101C>G (p.Pro1034Arg)
c.3104C>G (p.Pro1035Arg)
19g.15180139G>TCA404513276NOTCH3c.3260C>A (p.Pro1087His)
c.3101C>A (p.Pro1034His)
c.3104C>A (p.Pro1035His)
19g.15180140G>ACA404513280NOTCH3c.3259C>T (p.Pro1087Ser)
c.3100C>T (p.Pro1034Ser)
c.3103C>T (p.Pro1035Ser)
 gnomAD v4 COSMIC COSMIC
19g.15180140G>CCA404513281NOTCH3c.3259C>G (p.Pro1087Ala)
c.3100C>G (p.Pro1034Ala)
c.3103C>G (p.Pro1035Ala)
19g.15180140G>TCA404513287NOTCH3c.3259C>A (p.Pro1087Thr)
c.3100C>A (p.Pro1034Thr)
c.3103C>A (p.Pro1035Thr)
19g.15180141G>ACA505824291NOTCH3c.3258C>T (p.Asp1086=)
c.3099C>T (p.Asp1033=)
c.3102C>T (p.Asp1034=)
 dbSNP gnomAD v3 gnomAD v4
19g.15180141G>CCA404513289NOTCH3c.3258C>G (p.Asp1086Glu)
c.3099C>G (p.Asp1033Glu)
c.3102C>G (p.Asp1034Glu)
19g.15180141G=CA2324744255NOTCH3c.3258C= (p.Asp1086=)
c.3099C= (p.Asp1033=)
c.3102C= (p.Asp1034=)
19g.15180141G>TCA404513292NOTCH3c.3258C>A (p.Asp1086Glu)
c.3099C>A (p.Asp1033Glu)
c.3102C>A (p.Asp1034Glu)
 gnomAD v4
19g.15180142T>ACA404513294NOTCH3c.3257A>T (p.Asp1086Val)
c.3098A>T (p.Asp1033Val)
c.3101A>T (p.Asp1034Val)
19g.15180142T>CCA404513296NOTCH3c.3257A>G (p.Asp1086Gly)
c.3098A>G (p.Asp1033Gly)
c.3101A>G (p.Asp1034Gly)
19g.15180142T>GCA404513298NOTCH3c.3257A>C (p.Asp1086Ala)
c.3098A>C (p.Asp1033Ala)
c.3101A>C (p.Asp1034Ala)
 dbSNP
19g.15180142T=CA2324744256NOTCH3c.3257A= (p.Asp1086=)
c.3098A= (p.Asp1033=)
c.3101A= (p.Asp1034=)
19g.15180143C>ACA404513303NOTCH3c.3256G>T (p.Asp1086Tyr)
c.3097G>T (p.Asp1033Tyr)
c.3100G>T (p.Asp1034Tyr)
19g.15180143C=CA2324744257NOTCH3c.3256G= (p.Asp1086=)
c.3097G= (p.Asp1033=)
c.3100G= (p.Asp1034=)
19g.15180143C>GCA9263148NOTCH3c.3256G>C (p.Asp1086His)
c.3097G>C (p.Asp1033His)
c.3100G>C (p.Asp1034His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180143C>TCA10651576NOTCH3c.3256G>A (p.Asp1086Asn)
c.3097G>A (p.Asp1033Asn)
c.3100G>A (p.Asp1034Asn)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
19g.15180144C>ACA505824293NOTCH3c.3255G>T (p.Val1085=)
c.3096G>T (p.Val1032=)
c.3099G>T (p.Val1033=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.15180144C=CA2324744258NOTCH3c.3255G= (p.Val1085=)
c.3096G= (p.Val1032=)
c.3099G= (p.Val1033=)
19g.15180144C>GCA505824294NOTCH3c.3255G>C (p.Val1085=)
c.3096G>C (p.Val1032=)
c.3099G>C (p.Val1033=)
19g.15180144C>TCA505824295NOTCH3c.3255G>A (p.Val1085=)
c.3096G>A (p.Val1032=)
c.3099G>A (p.Val1033=)
19g.15180145A=CA2324744259NOTCH3c.3254T= (p.Val1085=)
c.3095T= (p.Val1032=)
c.3098T= (p.Val1033=)
19g.15180145A>CCA404513325NOTCH3c.3254T>G (p.Val1085Gly)
c.3095T>G (p.Val1032Gly)
c.3098T>G (p.Val1033Gly)
 dbSNP COSMIC COSMIC
19g.15180145A>GCA404513327NOTCH3c.3254T>C (p.Val1085Ala)
c.3095T>C (p.Val1032Ala)
c.3098T>C (p.Val1033Ala)
19g.15180145A>TCA404513323NOTCH3c.3254T>A (p.Val1085Glu)
c.3095T>A (p.Val1032Glu)
c.3098T>A (p.Val1033Glu)
 dbSNP
19g.15180146C>ACA404513330NOTCH3c.3253G>T (p.Val1085Leu)
c.3094G>T (p.Val1032Leu)
c.3097G>T (p.Val1033Leu)
 gnomAD v4
19g.15180146C=CA2324744260NOTCH3c.3253G= (p.Val1085=)
c.3094G= (p.Val1032=)
c.3097G= (p.Val1033=)
19g.15180146C>GCA404513328NOTCH3c.3253G>C (p.Val1085Leu)
c.3094G>C (p.Val1032Leu)
c.3097G>C (p.Val1033Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.15180146C>TCA404513329NOTCH3c.3253G>A (p.Val1085Met)
c.3094G>A (p.Val1032Met)
c.3097G>A (p.Val1033Met)
 dbSNP
19g.15180147C>ACA404513334NOTCH3c.3252G>T (p.Glu1084Asp)
c.3093G>T (p.Glu1031Asp)
c.3096G>T (p.Glu1032Asp)
19g.15180147C=CA2324744261NOTCH3c.3252G= (p.Glu1084=)
c.3093G= (p.Glu1031=)
c.3096G= (p.Glu1032=)
19g.15180147C>GCA404513341NOTCH3c.3252G>C (p.Glu1084Asp)
c.3093G>C (p.Glu1031Asp)
c.3096G>C (p.Glu1032Asp)
19g.15180147C>TCA9263149NOTCH3c.3252G>A (p.Glu1084=)
c.3093G>A (p.Glu1031=)
c.3096G>A (p.Glu1032=)
 dbSNP ExAC
19g.15180148T>ACA404513357NOTCH3c.3251A>T (p.Glu1084Val)
c.3092A>T (p.Glu1031Val)
c.3095A>T (p.Glu1032Val)
19g.15180148T>CCA404513359NOTCH3c.3251A>G (p.Glu1084Gly)
c.3092A>G (p.Glu1031Gly)
c.3095A>G (p.Glu1032Gly)
19g.15180148T>GCA404513361NOTCH3c.3251A>C (p.Glu1084Ala)
c.3092A>C (p.Glu1031Ala)
c.3095A>C (p.Glu1032Ala)
19g.15180149C>ACA404513362NOTCH3c.3250G>T (p.Glu1084Ter)
c.3091G>T (p.Glu1031Ter)
c.3094G>T (p.Glu1032Ter)
19g.15180149C>GCA404513364NOTCH3c.3250G>C (p.Glu1084Gln)
c.3091G>C (p.Glu1031Gln)
c.3094G>C (p.Glu1032Gln)
19g.15180149C>TCA404513368NOTCH3c.3250G>A (p.Glu1084Lys)
c.3091G>A (p.Glu1031Lys)
c.3094G>A (p.Glu1032Lys)
19g.15180150C>ACA404513372NOTCH3c.3249G>T (p.Gln1083His)
c.3090G>T (p.Gln1030His)
c.3093G>T (p.Gln1031His)
19g.15180150C>GCA404513373NOTCH3c.3249G>C (p.Gln1083His)
c.3090G>C (p.Gln1030His)
c.3093G>C (p.Gln1031His)
 gnomAD v4
19g.15180150C>TCA505824309NOTCH3c.3249G>A (p.Gln1083=)
c.3090G>A (p.Gln1030=)
c.3093G>A (p.Gln1031=)
19g.15180151T>ACA404513378NOTCH3c.3248A>T (p.Gln1083Leu)
c.3089A>T (p.Gln1030Leu)
c.3092A>T (p.Gln1031Leu)
19g.15180151T>CCA9263150NOTCH3c.3248A>G (p.Gln1083Arg)
c.3089A>G (p.Gln1030Arg)
c.3092A>G (p.Gln1031Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180151T>GCA404513374NOTCH3c.3248A>C (p.Gln1083Pro)
c.3089A>C (p.Gln1030Pro)
c.3092A>C (p.Gln1031Pro)
19g.15180151T=CA2324744262NOTCH3c.3248A= (p.Gln1083=)
c.3089A= (p.Gln1030=)
c.3092A= (p.Gln1031=)
19g.15180152G>ACA404513381NOTCH3c.3247C>T (p.Gln1083Ter)
c.3088C>T (p.Gln1030Ter)
c.3091C>T (p.Gln1031Ter)
 dbSNP COSMIC COSMIC
19g.15180152G>CCA404513393NOTCH3c.3247C>G (p.Gln1083Glu)
c.3088C>G (p.Gln1030Glu)
c.3091C>G (p.Gln1031Glu)
19g.15180152G>TCA404513394NOTCH3c.3247C>A (p.Gln1083Lys)
c.3088C>A (p.Gln1030Lys)
c.3091C>A (p.Gln1031Lys)
19g.15180153C>ACA404513398NOTCH3c.3246G>T (p.Glu1082Asp)
c.3087G>T (p.Glu1029Asp)
c.3090G>T (p.Glu1030Asp)
19g.15180153C=CA2324744263NOTCH3c.3246G= (p.Glu1082=)
c.3087G= (p.Glu1029=)
c.3090G= (p.Glu1030=)
19g.15180153C>GCA404513399NOTCH3c.3246G>C (p.Glu1082Asp)
c.3087G>C (p.Glu1029Asp)
c.3090G>C (p.Glu1030Asp)
19g.15180153C>TCA9263151NOTCH3c.3246G>A (p.Glu1082=)
c.3087G>A (p.Glu1029=)
c.3090G>A (p.Glu1030=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180154T>ACA404513400NOTCH3c.3245A>T (p.Glu1082Val)
c.3086A>T (p.Glu1029Val)
c.3089A>T (p.Glu1030Val)
 dbSNP
19g.15180154T>CCA404513404NOTCH3c.3245A>G (p.Glu1082Gly)
c.3086A>G (p.Glu1029Gly)
c.3089A>G (p.Glu1030Gly)
 dbSNP
19g.15180154T>GCA404513406NOTCH3c.3245A>C (p.Glu1082Ala)
c.3086A>C (p.Glu1029Ala)
c.3089A>C (p.Glu1030Ala)
19g.15180155C>ACA404513409NOTCH3c.3244G>T (p.Glu1082Ter)
c.3085G>T (p.Glu1029Ter)
c.3088G>T (p.Glu1030Ter)
19g.15180155C>GCA404513410NOTCH3c.3244G>C (p.Glu1082Gln)
c.3085G>C (p.Glu1029Gln)
c.3088G>C (p.Glu1030Gln)
19g.15180155C>TCA404513413NOTCH3c.3244G>A (p.Glu1082Lys)
c.3085G>A (p.Glu1029Lys)
c.3088G>A (p.Glu1030Lys)
 gnomAD v4
19g.15180156A>CCA404513426NOTCH3c.3243T>G (p.Cys1081Trp)
c.3084T>G (p.Cys1028Trp)
c.3087T>G (p.Cys1029Trp)
19g.15180156A>GCA505824318NOTCH3c.3243T>C (p.Cys1081=)
c.3084T>C (p.Cys1028=)
c.3087T>C (p.Cys1029=)
19g.15180156A>TCA404513416NOTCH3c.3243T>A (p.Cys1081Ter)
c.3084T>A (p.Cys1028Ter)
c.3087T>A (p.Cys1029Ter)
19g.15180157C>ACA404513429NOTCH3c.3242G>T (p.Cys1081Phe)
c.3083G>T (p.Cys1028Phe)
c.3086G>T (p.Cys1029Phe)
19g.15180157C>GCA404513431NOTCH3c.3242G>C (p.Cys1081Ser)
c.3083G>C (p.Cys1028Ser)
c.3086G>C (p.Cys1029Ser)
 dbSNP
19g.15180157C>TCA404513434NOTCH3c.3242G>A (p.Cys1081Tyr)
c.3083G>A (p.Cys1028Tyr)
c.3086G>A (p.Cys1029Tyr)
19g.15180158A=CA2324744264NOTCH3c.3241T= (p.Cys1081=)
c.3082T= (p.Cys1028=)
c.3085T= (p.Cys1029=)
19g.15180158A>CCA404513445NOTCH3c.3241T>G (p.Cys1081Gly)
c.3082T>G (p.Cys1028Gly)
c.3085T>G (p.Cys1029Gly)
19g.15180158A>GCA404513447NOTCH3c.3241T>C (p.Cys1081Arg)
c.3082T>C (p.Cys1028Arg)
c.3085T>C (p.Cys1029Arg)
 ClinVar dbSNP
19g.15180158A>TCA404513449NOTCH3c.3241T>A (p.Cys1081Ser)
c.3082T>A (p.Cys1028Ser)
c.3085T>A (p.Cys1029Ser)
19g.15180159G>ACA505824325NOTCH3c.3240C>T (p.His1080=)
c.3081C>T (p.His1027=)
c.3084C>T (p.His1028=)
19g.15180159G>CCA404513452NOTCH3c.3240C>G (p.His1080Gln)
c.3081C>G (p.His1027Gln)
c.3084C>G (p.His1028Gln)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15180159G=CA2324744265NOTCH3c.3240C= (p.His1080=)
c.3081C= (p.His1027=)
c.3084C= (p.His1028=)
19g.15180159G>TCA404513455NOTCH3c.3240C>A (p.His1080Gln)
c.3081C>A (p.His1027Gln)
c.3084C>A (p.His1028Gln)
19g.15180160T>ACA404513456NOTCH3c.3239A>T (p.His1080Leu)
c.3080A>T (p.His1027Leu)
c.3083A>T (p.His1028Leu)
19g.15180160T>CCA404513457NOTCH3c.3239A>G (p.His1080Arg)
c.3080A>G (p.His1027Arg)
c.3083A>G (p.His1028Arg)
19g.15180160T>GCA404513459NOTCH3c.3239A>C (p.His1080Pro)
c.3080A>C (p.His1027Pro)
c.3083A>C (p.His1028Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180160T=CA2324744266NOTCH3c.3239A= (p.His1080=)
c.3080A= (p.His1027=)
c.3083A= (p.His1028=)
19g.15180161G>ACA404513461NOTCH3c.3238C>T (p.His1080Tyr)
c.3079C>T (p.His1027Tyr)
c.3082C>T (p.His1028Tyr)
19g.15180161G>CCA404513462NOTCH3c.3238C>G (p.His1080Asp)
c.3079C>G (p.His1027Asp)
c.3082C>G (p.His1028Asp)
 gnomAD v4
19g.15180161G>TCA404513464NOTCH3c.3238C>A (p.His1080Asn)
c.3079C>A (p.His1027Asn)
c.3082C>A (p.His1028Asn)
19g.15180162G>ACA505824332NOTCH3c.3237C>T (p.Ser1079=)
c.3078C>T (p.Ser1026=)
c.3081C>T (p.Ser1027=)
19g.15180162G>CCA404513470NOTCH3c.3237C>G (p.Ser1079Arg)
c.3078C>G (p.Ser1026Arg)
c.3081C>G (p.Ser1027Arg)
 dbSNP
19g.15180162G>TCA404513469NOTCH3c.3237C>A (p.Ser1079Arg)
c.3078C>A (p.Ser1026Arg)
c.3081C>A (p.Ser1027Arg)
19g.15180163C>ACA404513471NOTCH3c.3236G>T (p.Ser1079Ile)
c.3077G>T (p.Ser1026Ile)
c.3080G>T (p.Ser1027Ile)
 dbSNP
19g.15180163C=CA2324744267NOTCH3c.3236G= (p.Ser1079=)
c.3077G= (p.Ser1026=)
c.3080G= (p.Ser1027=)
19g.15180163C>GCA404513472NOTCH3c.3236G>C (p.Ser1079Thr)
c.3077G>C (p.Ser1026Thr)
c.3080G>C (p.Ser1027Thr)
19g.15180163C>TCA9263152NOTCH3c.3236G>A (p.Ser1079Asn)
c.3077G>A (p.Ser1026Asn)
c.3080G>A (p.Ser1027Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180164T>ACA404513476NOTCH3c.3235A>T (p.Ser1079Cys)
c.3076A>T (p.Ser1026Cys)
c.3079A>T (p.Ser1027Cys)
19g.15180164T>CCA404513478NOTCH3c.3235A>G (p.Ser1079Gly)
c.3076A>G (p.Ser1026Gly)
c.3079A>G (p.Ser1027Gly)
19g.15180164T>GCA404513484NOTCH3c.3235A>C (p.Ser1079Arg)
c.3076A>C (p.Ser1026Arg)
c.3079A>C (p.Ser1027Arg)
19g.15180165A>CCA505824335NOTCH3c.3234T>G (p.Gly1078=)
c.3075T>G (p.Gly1025=)
c.3078T>G (p.Gly1026=)
19g.15180165A>GCA505824336NOTCH3c.3234T>C (p.Gly1078=)
c.3075T>C (p.Gly1025=)
c.3078T>C (p.Gly1026=)
19g.15180165A>TCA505824337NOTCH3c.3234T>A (p.Gly1078=)
c.3075T>A (p.Gly1025=)
c.3078T>A (p.Gly1026=)
19g.15180166C>ACA404513505NOTCH3c.3233G>T (p.Gly1078Val)
c.3074G>T (p.Gly1025Val)
c.3077G>T (p.Gly1026Val)
19g.15180166C>GCA404513488NOTCH3c.3233G>C (p.Gly1078Ala)
c.3074G>C (p.Gly1025Ala)
c.3077G>C (p.Gly1026Ala)
19g.15180166C>TCA404513491NOTCH3c.3233G>A (p.Gly1078Asp)
c.3074G>A (p.Gly1025Asp)
c.3077G>A (p.Gly1026Asp)
 gnomAD v4
19g.15180167C>ACA404513507NOTCH3c.3232G>T (p.Gly1078Cys)
c.3073G>T (p.Gly1025Cys)
c.3076G>T (p.Gly1026Cys)
19g.15180167C>GCA404513510NOTCH3c.3232G>C (p.Gly1078Arg)
c.3073G>C (p.Gly1025Arg)
c.3076G>C (p.Gly1026Arg)
19g.15180167C>TCA404513513NOTCH3c.3232G>A (p.Gly1078Ser)
c.3073G>A (p.Gly1025Ser)
c.3076G>A (p.Gly1026Ser)
19g.15180168A=CA2324744268NOTCH3c.3231T= (p.Thr1077=)
c.3072T= (p.Thr1024=)
c.3075T= (p.Thr1025=)
19g.15180168A>CCA505824338NOTCH3c.3231T>G (p.Thr1077=)
c.3072T>G (p.Thr1024=)
c.3075T>G (p.Thr1025=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.15180168A>GCA505824339NOTCH3c.3231T>C (p.Thr1077=)
c.3072T>C (p.Thr1024=)
c.3075T>C (p.Thr1025=)
19g.15180168A>TCA505824340NOTCH3c.3231T>A (p.Thr1077=)
c.3072T>A (p.Thr1024=)
c.3075T>A (p.Thr1025=)
19g.15180169G>ACA305769993NOTCH3c.3230C>T (p.Thr1077Ile)
c.3071C>T (p.Thr1024Ile)
c.3074C>T (p.Thr1025Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.15180169G>CCA404513519NOTCH3c.3230C>G (p.Thr1077Ser)
c.3071C>G (p.Thr1024Ser)
c.3074C>G (p.Thr1025Ser)
19g.15180169G=CA2324744269NOTCH3c.3230C= (p.Thr1077=)
c.3071C= (p.Thr1024=)
c.3074C= (p.Thr1025=)
19g.15180169G>TCA404513521NOTCH3c.3230C>A (p.Thr1077Asn)
c.3071C>A (p.Thr1024Asn)
c.3074C>A (p.Thr1025Asn)
 gnomAD v4
19g.15180170T>ACA404513526NOTCH3c.3229A>T (p.Thr1077Ser)
c.3070A>T (p.Thr1024Ser)
c.3073A>T (p.Thr1025Ser)
19g.15180170T>CCA404513533NOTCH3c.3229A>G (p.Thr1077Ala)
c.3070A>G (p.Thr1024Ala)
c.3073A>G (p.Thr1025Ala)
 gnomAD v4
19g.15180170T>GCA404513523NOTCH3c.3229A>C (p.Thr1077Pro)
c.3070A>C (p.Thr1024Pro)
c.3073A>C (p.Thr1025Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.15180170T=CA2324744270NOTCH3c.3229A= (p.Thr1077=)
c.3070A= (p.Thr1024=)
c.3073A= (p.Thr1025=)
19g.15180171A>CCA505824341NOTCH3c.3228T>G (p.Arg1076=)
c.3069T>G (p.Arg1023=)
c.3072T>G (p.Arg1024=)
19g.15180171A>GCA505824342NOTCH3c.3228T>C (p.Arg1076=)
c.3069T>C (p.Arg1023=)
c.3072T>C (p.Arg1024=)
19g.15180171A>TCA505824343NOTCH3c.3228T>A (p.Arg1076=)
c.3069T>A (p.Arg1023=)
c.3072T>A (p.Arg1024=)
19g.15180172C>ACA404513542NOTCH3c.3227G>T (p.Arg1076Leu)
c.3068G>T (p.Arg1023Leu)
c.3071G>T (p.Arg1024Leu)
19g.15180172C=CA2324744271NOTCH3c.3227G= (p.Arg1076=)
c.3068G= (p.Arg1023=)
c.3071G= (p.Arg1024=)
19g.15180172C>GCA404513538NOTCH3c.3227G>C (p.Arg1076Pro)
c.3068G>C (p.Arg1023Pro)
c.3071G>C (p.Arg1024Pro)
19g.15180172C>TCA9263153NOTCH3c.3227G>A (p.Arg1076His)
c.3068G>A (p.Arg1023His)
c.3071G>A (p.Arg1024His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15180173G>ACA404513546NOTCH3c.3226C>T (p.Arg1076Cys)
c.3067C>T (p.Arg1023Cys)
c.3070C>T (p.Arg1024Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15180173G>CCA404513549NOTCH3c.3226C>G (p.Arg1076Gly)
c.3067C>G (p.Arg1023Gly)
c.3070C>G (p.Arg1024Gly)
19g.15180173G=CA2324744272NOTCH3c.3226C= (p.Arg1076=)
c.3067C= (p.Arg1023=)
c.3070C= (p.Arg1024=)
19g.15180173G>TCA404513550NOTCH3c.3226C>A (p.Arg1076Ser)
c.3067C>A (p.Arg1023Ser)
c.3070C>A (p.Arg1024Ser)
19g.15180174G>ACA505824344NOTCH3c.3225C>T (p.Gly1075=)
c.3066C>T (p.Gly1022=)
c.3069C>T (p.Gly1023=)
 dbSNP
19g.15180174G>CCA505824345NOTCH3c.3225C>G (p.Gly1075=)
c.3066C>G (p.Gly1022=)
c.3069C>G (p.Gly1023=)
 gnomAD v4
19g.15180174G>TCA505824346NOTCH3c.3225C>A (p.Gly1075=)
c.3066C>A (p.Gly1022=)
c.3069C>A (p.Gly1023=)
19g.15180175C>ACA404513561NOTCH3c.3224G>T (p.Gly1075Val)
c.3065G>T (p.Gly1022Val)
c.3068G>T (p.Gly1023Val)
 dbSNP
19g.15180175C>GCA404513564NOTCH3c.3224G>C (p.Gly1075Ala)
c.3065G>C (p.Gly1022Ala)
c.3068G>C (p.Gly1023Ala)
19g.15180175C>TCA404513566NOTCH3c.3224G>A (p.Gly1075Asp)
c.3065G>A (p.Gly1022Asp)
c.3068G>A (p.Gly1023Asp)
19g.15180176C>ACA404513571NOTCH3c.3223G>T (p.Gly1075Cys)
c.3064G>T (p.Gly1022Cys)
c.3067G>T (p.Gly1023Cys)
 dbSNP
19g.15180176C=CA2324744273NOTCH3c.3223G= (p.Gly1075=)
c.3064G= (p.Gly1022=)
c.3067G= (p.Gly1023=)
19g.15180176C>GCA404513575NOTCH3c.3223G>C (p.Gly1075Arg)
c.3064G>C (p.Gly1022Arg)
c.3067G>C (p.Gly1023Arg)
19g.15180176C>TCA305770005NOTCH3c.3223G>A (p.Gly1075Ser)
c.3064G>A (p.Gly1022Ser)
c.3067G>A (p.Gly1023Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.15180177C>ACA404513580NOTCH3c.3222G>T (p.Glu1074Asp)
c.3063G>T (p.Glu1021Asp)
c.3066G>T (p.Glu1022Asp)
19g.15180177C>GCA404513584NOTCH3c.3222G>C (p.Glu1074Asp)
c.3063G>C (p.Glu1021Asp)
c.3066G>C (p.Glu1022Asp)
19g.15180177C>TCA505824347NOTCH3c.3222G>A (p.Glu1074=)
c.3063G>A (p.Glu1021=)
c.3066G>A (p.Glu1022=)
19g.15180178T>ACA404513591NOTCH3c.3221A>T (p.Glu1074Val)
c.3062A>T (p.Glu1021Val)
c.3065A>T (p.Glu1022Val)
19g.15180178T>CCA404513588NOTCH3c.3221A>G (p.Glu1074Gly)
c.3062A>G (p.Glu1021Gly)
c.3065A>G (p.Glu1022Gly)
 dbSNP
19g.15180178T>GCA404513586NOTCH3c.3221A>C (p.Glu1074Ala)
c.3062A>C (p.Glu1021Ala)
c.3065A>C (p.Glu1022Ala)
 gnomAD v4
19g.15180179C>ACA404513593NOTCH3c.3220G>T (p.Glu1074Ter)
c.3061G>T (p.Glu1021Ter)
c.3064G>T (p.Glu1022Ter)
19g.15180179C>GCA404513599NOTCH3c.3220G>C (p.Glu1074Gln)
c.3061G>C (p.Glu1021Gln)
c.3064G>C (p.Glu1022Gln)
19g.15180179C>TCA404513602NOTCH3c.3220G>A (p.Glu1074Lys)
c.3061G>A (p.Glu1021Lys)
c.3064G>A (p.Glu1022Lys)
 dbSNP
19g.15180180T>ACA505824348NOTCH3c.3219A>T (p.Pro1073=)
c.3060A>T (p.Pro1020=)
c.3063A>T (p.Pro1021=)
19g.15180180T>CCA505824349NOTCH3c.3219A>G (p.Pro1073=)
c.3060A>G (p.Pro1020=)
c.3063A>G (p.Pro1021=)
19g.15180180T>GCA505824350NOTCH3c.3219A>C (p.Pro1073=)
c.3060A>C (p.Pro1020=)
c.3063A>C (p.Pro1021=)
 COSMIC COSMIC
19g.15180181G>ACA404513608NOTCH3c.3218C>T (p.Pro1073Leu)
c.3059C>T (p.Pro1020Leu)
c.3062C>T (p.Pro1021Leu)
 dbSNP
19g.15180181G>CCA404513611NOTCH3c.3218C>G (p.Pro1073Arg)
c.3059C>G (p.Pro1020Arg)
c.3062C>G (p.Pro1021Arg)
19g.15180181G=CA2324744274NOTCH3c.3218C= (p.Pro1073=)
c.3059C= (p.Pro1020=)
c.3062C= (p.Pro1021=)
19g.15180181G>TCA404513614NOTCH3c.3218C>A (p.Pro1073Gln)
c.3059C>A (p.Pro1020Gln)
c.3062C>A (p.Pro1021Gln)
19g.15180182G>ACA404513624NOTCH3c.3217C>T (p.Pro1073Ser)
c.3058C>T (p.Pro1020Ser)
c.3061C>T (p.Pro1021Ser)
19g.15180182G>CCA404513630NOTCH3c.3217C>G (p.Pro1073Ala)
c.3058C>G (p.Pro1020Ala)
c.3061C>G (p.Pro1021Ala)
19g.15180182G>TCA404513631NOTCH3c.3217C>A (p.Pro1073Thr)
c.3058C>A (p.Pro1020Thr)
c.3061C>A (p.Pro1021Thr)
19g.15180183G>ACA505824351NOTCH3c.3216C>T (p.Cys1072=)
c.3057C>T (p.Cys1019=)
c.3060C>T (p.Cys1020=)
 dbSNP gnomAD v4
19g.15180183G>CCA404513632NOTCH3c.3216C>G (p.Cys1072Trp)
c.3057C>G (p.Cys1019Trp)
c.3060C>G (p.Cys1020Trp)
19g.15180183G=CA2324744275NOTCH3c.3216C= (p.Cys1072=)
c.3057C= (p.Cys1019=)
c.3060C= (p.Cys1020=)
19g.15180183G>TCA404513633NOTCH3c.3216C>A (p.Cys1072Ter)
c.3057C>A (p.Cys1019Ter)
c.3060C>A (p.Cys1020Ter)
19g.15180184C>ACA404513634NOTCH3c.3215G>T (p.Cys1072Phe)
c.3056G>T (p.Cys1019Phe)
c.3059G>T (p.Cys1020Phe)
19g.15180184C=CA2324744276NOTCH3c.3215G= (p.Cys1072=)
c.3056G= (p.Cys1019=)
c.3059G= (p.Cys1020=)
19g.15180184C>GCA404513637NOTCH3c.3215G>C (p.Cys1072Ser)
c.3056G>C (p.Cys1019Ser)
c.3059G>C (p.Cys1020Ser)
19g.15180184C>TCA404513642NOTCH3c.3215G>A (p.Cys1072Tyr)
c.3056G>A (p.Cys1019Tyr)
c.3059G>A (p.Cys1020Tyr)
 dbSNP gnomAD v3 gnomAD v4
19g.15180185A>CCA404513654NOTCH3c.3214T>G (p.Cys1072Gly)
c.3055T>G (p.Cys1019Gly)
c.3058T>G (p.Cys1020Gly)
19g.15180185A>GCA404513652NOTCH3c.3214T>C (p.Cys1072Arg)
c.3055T>C (p.Cys1019Arg)
c.3058T>C (p.Cys1020Arg)
19g.15180185A>TCA404513645NOTCH3c.3214T>A (p.Cys1072Ser)
c.3055T>A (p.Cys1019Ser)
c.3058T>A (p.Cys1020Ser)
19g.15180186C>ACA505824353NOTCH3c.3213G>T (p.Val1071=)
c.3054G>T (p.Val1018=)
c.3057G>T (p.Val1019=)
19g.15180186C>GCA505824355NOTCH3c.3213G>C (p.Val1071=)
c.3054G>C (p.Val1018=)
c.3057G>C (p.Val1019=)
19g.15180186C>TCA505824354NOTCH3c.3213G>A (p.Val1071=)
c.3054G>A (p.Val1018=)
c.3057G>A (p.Val1019=)
19g.15180187A=CA2324744277NOTCH3c.3212T= (p.Val1071=)
c.3053T= (p.Val1018=)
c.3056T= (p.Val1019=)
19g.15180187A>CCA9263154NOTCH3c.3212T>G (p.Val1071Gly)
c.3053T>G (p.Val1018Gly)
c.3056T>G (p.Val1019Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180187A>GCA404513663NOTCH3c.3212T>C (p.Val1071Ala)
c.3053T>C (p.Val1018Ala)
c.3056T>C (p.Val1019Ala)
19g.15180187A>TCA404513664NOTCH3c.3212T>A (p.Val1071Glu)
c.3053T>A (p.Val1018Glu)
c.3056T>A (p.Val1019Glu)
19g.15180188C>ACA404513667NOTCH3c.3211G>T (p.Val1071Leu)
c.3052G>T (p.Val1018Leu)
c.3055G>T (p.Val1019Leu)
19g.15180188C=CA2324744278NOTCH3c.3211G= (p.Val1071=)
c.3052G= (p.Val1018=)
c.3055G= (p.Val1019=)
19g.15180188C>GCA9263155NOTCH3c.3211G>C (p.Val1071Leu)
c.3052G>C (p.Val1018Leu)
c.3055G>C (p.Val1019Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180188C>TCA305770013NOTCH3c.3211G>A (p.Val1071Met)
c.3052G>A (p.Val1018Met)
c.3055G>A (p.Val1019Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180189G>ACA9263156NOTCH3c.3210C>T (p.Cys1070=)
c.3051C>T (p.Cys1017=)
c.3054C>T (p.Cys1018=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15180189G>CCA404513679NOTCH3c.3210C>G (p.Cys1070Trp)
c.3051C>G (p.Cys1017Trp)
c.3054C>G (p.Cys1018Trp)
19g.15180189G=CA2324744279NOTCH3c.3210C= (p.Cys1070=)
c.3051C= (p.Cys1017=)
c.3054C= (p.Cys1018=)
19g.15180189G>TCA404513677NOTCH3c.3210C>A (p.Cys1070Ter)
c.3051C>A (p.Cys1017Ter)
c.3054C>A (p.Cys1018Ter)
19g.15180190C>ACA404513680NOTCH3c.3209G>T (p.Cys1070Phe)
c.3050G>T (p.Cys1017Phe)
c.3053G>T (p.Cys1018Phe)
19g.15180190C>GCA404513681NOTCH3c.3209G>C (p.Cys1070Ser)
c.3050G>C (p.Cys1017Ser)
c.3053G>C (p.Cys1018Ser)
19g.15180190C>TCA404513683NOTCH3c.3209G>A (p.Cys1070Tyr)
c.3050G>A (p.Cys1017Tyr)
c.3053G>A (p.Cys1018Tyr)

Number of alleles fetched