Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
19g.15180191A>CCA404513686NOTCH3c.3208T>G (p.Cys1070Gly)
c.3049T>G (p.Cys1017Gly)
c.3052T>G (p.Cys1018Gly)
19g.15180191A>GCA404513689NOTCH3c.3208T>C (p.Cys1070Arg)
c.3049T>C (p.Cys1017Arg)
c.3052T>C (p.Cys1018Arg)
19g.15180191A>TCA404513691NOTCH3c.3208T>A (p.Cys1070Ser)
c.3049T>A (p.Cys1017Ser)
c.3052T>A (p.Cys1018Ser)
19g.15180194_15180196delCA2583062882NOTCH3c.3206_3208del (p.Tyr1069del)
c.3047_3049del (p.Tyr1016del)
c.3050_3052del (p.Tyr1017del)
 gnomAD v4
19g.15180192G>ACA9263157NOTCH3c.3207C>T (p.Tyr1069=)
c.3048C>T (p.Tyr1016=)
c.3051C>T (p.Tyr1017=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180192G>CCA404513694NOTCH3c.3207C>G (p.Tyr1069Ter)
c.3048C>G (p.Tyr1016Ter)
c.3051C>G (p.Tyr1017Ter)
19g.15180192G=CA2324744280NOTCH3c.3207C= (p.Tyr1069=)
c.3048C= (p.Tyr1016=)
c.3051C= (p.Tyr1017=)
19g.15180192G>TCA404513693NOTCH3c.3207C>A (p.Tyr1069Ter)
c.3048C>A (p.Tyr1016Ter)
c.3051C>A (p.Tyr1017Ter)
19g.15180193T>ACA404513697NOTCH3c.3206A>T (p.Tyr1069Phe)
c.3047A>T (p.Tyr1016Phe)
c.3050A>T (p.Tyr1017Phe)
19g.15180193T>CCA404513700NOTCH3c.3206A>G (p.Tyr1069Cys)
c.3047A>G (p.Tyr1016Cys)
c.3050A>G (p.Tyr1017Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.15180193T>GCA404513704NOTCH3c.3206A>C (p.Tyr1069Ser)
c.3047A>C (p.Tyr1016Ser)
c.3050A>C (p.Tyr1017Ser)
19g.15180193T=CA2324744281NOTCH3c.3206A= (p.Tyr1069=)
c.3047A= (p.Tyr1016=)
c.3050A= (p.Tyr1017=)
19g.15180194A>CCA404513706NOTCH3c.3205T>G (p.Tyr1069Asp)
c.3046T>G (p.Tyr1016Asp)
c.3049T>G (p.Tyr1017Asp)
19g.15180194A>GCA404513708NOTCH3c.3205T>C (p.Tyr1069His)
c.3046T>C (p.Tyr1016His)
c.3049T>C (p.Tyr1017His)
19g.15180194A>TCA404513710NOTCH3c.3205T>A (p.Tyr1069Asn)
c.3046T>A (p.Tyr1016Asn)
c.3049T>A (p.Tyr1017Asn)
19g.15180195G>ACA505824356NOTCH3c.3204C>T (p.His1068=)
c.3045C>T (p.His1015=)
c.3048C>T (p.His1016=)
 dbSNP gnomAD v2 gnomAD v4
19g.15180195G>CCA404513712NOTCH3c.3204C>G (p.His1068Gln)
c.3045C>G (p.His1015Gln)
c.3048C>G (p.His1016Gln)
19g.15180195G=CA2324744282NOTCH3c.3204C= (p.His1068=)
c.3045C= (p.His1015=)
c.3048C= (p.His1016=)
19g.15180195G>TCA404513714NOTCH3c.3204C>A (p.His1068Gln)
c.3045C>A (p.His1015Gln)
c.3048C>A (p.His1016Gln)
19g.15180196T>ACA404513717NOTCH3c.3203A>T (p.His1068Leu)
c.3044A>T (p.His1015Leu)
c.3047A>T (p.His1016Leu)
19g.15180196T>CCA404513720NOTCH3c.3203A>G (p.His1068Arg)
c.3044A>G (p.His1015Arg)
c.3047A>G (p.His1016Arg)
19g.15180196T>GCA404513722NOTCH3c.3203A>C (p.His1068Pro)
c.3044A>C (p.His1015Pro)
c.3047A>C (p.His1016Pro)
19g.15180197G>ACA305770022NOTCH3c.3202C>T (p.His1068Tyr)
c.3043C>T (p.His1015Tyr)
c.3046C>T (p.His1016Tyr)
 dbSNP gnomAD v3 gnomAD v4
19g.15180197G>CCA404513726NOTCH3c.3202C>G (p.His1068Asp)
c.3043C>G (p.His1015Asp)
c.3046C>G (p.His1016Asp)
19g.15180197G=CA2324744283NOTCH3c.3202C= (p.His1068=)
c.3043C= (p.His1015=)
c.3046C= (p.His1016=)
19g.15180197G>TCA404513724NOTCH3c.3202C>A (p.His1068Asn)
c.3043C>A (p.His1015Asn)
c.3046C>A (p.His1016Asn)
19g.15180198G>ACA505824357NOTCH3c.3201C>T (p.Ser1067=)
c.3042C>T (p.Ser1014=)
c.3045C>T (p.Ser1015=)
19g.15180198G>CCA505824358NOTCH3c.3201C>G (p.Ser1067=)
c.3042C>G (p.Ser1014=)
c.3045C>G (p.Ser1015=)
19g.15180198G>TCA505824359NOTCH3c.3201C>A (p.Ser1067=)
c.3042C>A (p.Ser1014=)
c.3045C>A (p.Ser1015=)
19g.15180199G>ACA404513728NOTCH3c.3200C>T (p.Ser1067Phe)
c.3041C>T (p.Ser1014Phe)
c.3044C>T (p.Ser1015Phe)
 gnomAD v4
19g.15180199G>CCA404513734NOTCH3c.3200C>G (p.Ser1067Cys)
c.3041C>G (p.Ser1014Cys)
c.3044C>G (p.Ser1015Cys)
19g.15180199G>TCA404513731NOTCH3c.3200C>A (p.Ser1067Tyr)
c.3041C>A (p.Ser1014Tyr)
c.3044C>A (p.Ser1015Tyr)
19g.15180200A>CCA404513736NOTCH3c.3199T>G (p.Ser1067Ala)
c.3040T>G (p.Ser1014Ala)
c.3043T>G (p.Ser1015Ala)
19g.15180200A>GCA404513737NOTCH3c.3199T>C (p.Ser1067Pro)
c.3040T>C (p.Ser1014Pro)
c.3043T>C (p.Ser1015Pro)
 gnomAD v4
19g.15180200A>TCA404513739NOTCH3c.3199T>A (p.Ser1067Thr)
c.3040T>A (p.Ser1014Thr)
c.3043T>A (p.Ser1015Thr)
19g.15180201G>ACA505824360NOTCH3c.3198C>T (p.Ser1066=)
c.3039C>T (p.Ser1013=)
c.3042C>T (p.Ser1014=)
19g.15180201G>CCA404513743NOTCH3c.3198C>G (p.Ser1066Arg)
c.3039C>G (p.Ser1013Arg)
c.3042C>G (p.Ser1014Arg)
19g.15180201G>TCA404513744NOTCH3c.3198C>A (p.Ser1066Arg)
c.3039C>A (p.Ser1013Arg)
c.3042C>A (p.Ser1014Arg)
19g.15180202C>ACA404513747NOTCH3c.3197G>T (p.Ser1066Ile)
c.3038G>T (p.Ser1013Ile)
c.3041G>T (p.Ser1014Ile)
19g.15180202C>GCA404513749NOTCH3c.3197G>C (p.Ser1066Thr)
c.3038G>C (p.Ser1013Thr)
c.3041G>C (p.Ser1014Thr)
19g.15180202C>TCA404513750NOTCH3c.3197G>A (p.Ser1066Asn)
c.3038G>A (p.Ser1013Asn)
c.3041G>A (p.Ser1014Asn)
 gnomAD v4
19g.15180203T>ACA404513752NOTCH3c.3196A>T (p.Ser1066Cys)
c.3037A>T (p.Ser1013Cys)
c.3040A>T (p.Ser1014Cys)
19g.15180203T>CCA404513755NOTCH3c.3196A>G (p.Ser1066Gly)
c.3037A>G (p.Ser1013Gly)
c.3040A>G (p.Ser1014Gly)
19g.15180203T>GCA404513758NOTCH3c.3196A>C (p.Ser1066Arg)
c.3037A>C (p.Ser1013Arg)
c.3040A>C (p.Ser1014Arg)
19g.15180204G>ACA505824361NOTCH3c.3195C>T (p.Asp1065=)
c.3036C>T (p.Asp1012=)
c.3039C>T (p.Asp1013=)
 gnomAD v4
19g.15180204G>CCA404513760NOTCH3c.3195C>G (p.Asp1065Glu)
c.3036C>G (p.Asp1012Glu)
c.3039C>G (p.Asp1013Glu)
19g.15180204G>TCA404513762NOTCH3c.3195C>A (p.Asp1065Glu)
c.3036C>A (p.Asp1012Glu)
c.3039C>A (p.Asp1013Glu)
19g.15180205T>ACA404513765NOTCH3c.3194A>T (p.Asp1065Val)
c.3035A>T (p.Asp1012Val)
c.3038A>T (p.Asp1013Val)
19g.15180205T>CCA404513771NOTCH3c.3194A>G (p.Asp1065Gly)
c.3035A>G (p.Asp1012Gly)
c.3038A>G (p.Asp1013Gly)
19g.15180205T>GCA404513767NOTCH3c.3194A>C (p.Asp1065Ala)
c.3035A>C (p.Asp1012Ala)
c.3038A>C (p.Asp1013Ala)
19g.15180206C>ACA404513780NOTCH3c.3193G>T (p.Asp1065Tyr)
c.3034G>T (p.Asp1012Tyr)
c.3037G>T (p.Asp1013Tyr)
19g.15180206C=CA2324744284NOTCH3c.3193G= (p.Asp1065=)
c.3034G= (p.Asp1012=)
c.3037G= (p.Asp1013=)
19g.15180206C>GCA404513783NOTCH3c.3193G>C (p.Asp1065His)
c.3034G>C (p.Asp1012His)
c.3037G>C (p.Asp1013His)
19g.15180206C>TCA305770026NOTCH3c.3193G>A (p.Asp1065Asn)
c.3034G>A (p.Asp1012Asn)
c.3037G>A (p.Asp1013Asn)
 ClinVar dbSNP
19g.15180207T>ACA404513787NOTCH3c.3192A>T (p.Glu1064Asp)
c.3033A>T (p.Glu1011Asp)
c.3036A>T (p.Glu1012Asp)
19g.15180207T>CCA505824363NOTCH3c.3192A>G (p.Glu1064=)
c.3033A>G (p.Glu1011=)
c.3036A>G (p.Glu1012=)
19g.15180207T>GCA404513788NOTCH3c.3192A>C (p.Glu1064Asp)
c.3033A>C (p.Glu1011Asp)
c.3036A>C (p.Glu1012Asp)
19g.15180208T>ACA404513791NOTCH3c.3191A>T (p.Glu1064Val)
c.3032A>T (p.Glu1011Val)
c.3035A>T (p.Glu1012Val)
19g.15180208T>CCA404513794NOTCH3c.3191A>G (p.Glu1064Gly)
c.3032A>G (p.Glu1011Gly)
c.3035A>G (p.Glu1012Gly)
19g.15180208T>GCA404513796NOTCH3c.3191A>C (p.Glu1064Ala)
c.3032A>C (p.Glu1011Ala)
c.3035A>C (p.Glu1012Ala)
19g.15180209C>ACA404513797NOTCH3c.3190G>T (p.Glu1064Ter)
c.3031G>T (p.Glu1011Ter)
c.3034G>T (p.Glu1012Ter)
 COSMIC COSMIC
19g.15180209C>GCA404513798NOTCH3c.3190G>C (p.Glu1064Gln)
c.3031G>C (p.Glu1011Gln)
c.3034G>C (p.Glu1012Gln)
19g.15180209C>TCA404513799NOTCH3c.3190G>A (p.Glu1064Lys)
c.3031G>A (p.Glu1011Lys)
c.3034G>A (p.Glu1012Lys)
19g.15180210A>CCA404513800NOTCH3c.3189T>G (p.Asp1063Glu)
c.3030T>G (p.Asp1010Glu)
c.3033T>G (p.Asp1011Glu)
19g.15180210A>GCA505824365NOTCH3c.3189T>C (p.Asp1063=)
c.3030T>C (p.Asp1010=)
c.3033T>C (p.Asp1011=)
19g.15180210A>TCA404513801NOTCH3c.3189T>A (p.Asp1063Glu)
c.3030T>A (p.Asp1010Glu)
c.3033T>A (p.Asp1011Glu)
19g.15180211T>ACA404513802NOTCH3c.3188A>T (p.Asp1063Val)
c.3029A>T (p.Asp1010Val)
c.3032A>T (p.Asp1011Val)
19g.15180211T>CCA404513803NOTCH3c.3188A>G (p.Asp1063Gly)
c.3029A>G (p.Asp1010Gly)
c.3032A>G (p.Asp1011Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.15180211T>GCA404513804NOTCH3c.3188A>C (p.Asp1063Ala)
c.3029A>C (p.Asp1010Ala)
c.3032A>C (p.Asp1011Ala)
19g.15180211T=CA2324744285NOTCH3c.3188A= (p.Asp1063=)
c.3029A= (p.Asp1010=)
c.3032A= (p.Asp1011=)
19g.15180212C>ACA404513806NOTCH3c.3187G>T (p.Asp1063Tyr)
c.3028G>T (p.Asp1010Tyr)
c.3031G>T (p.Asp1011Tyr)
19g.15180212C=CA2324744286NOTCH3c.3187G= (p.Asp1063=)
c.3028G= (p.Asp1010=)
c.3031G= (p.Asp1011=)
19g.15180212C>GCA9263158NOTCH3c.3187G>C (p.Asp1063His)
c.3028G>C (p.Asp1010His)
c.3031G>C (p.Asp1011His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180212C>TCA404513809NOTCH3c.3187G>A (p.Asp1063Asn)
c.3028G>A (p.Asp1010Asn)
c.3031G>A (p.Asp1011Asn)
 dbSNP
19g.15180213C>ACA505824367NOTCH3c.3186G>T (p.Val1062=)
c.3027G>T (p.Val1009=)
c.3030G>T (p.Val1010=)
19g.15180213C=CA2324744287NOTCH3c.3186G= (p.Val1062=)
c.3027G= (p.Val1009=)
c.3030G= (p.Val1010=)
19g.15180213C>GCA505824369NOTCH3c.3186G>C (p.Val1062=)
c.3027G>C (p.Val1009=)
c.3030G>C (p.Val1010=)
19g.15180213C>TCA505824368NOTCH3c.3186G>A (p.Val1062=)
c.3027G>A (p.Val1009=)
c.3030G>A (p.Val1010=)
 dbSNP gnomAD v2 gnomAD v4
19g.15180214A>CCA404513816NOTCH3c.3185T>G (p.Val1062Gly)
c.3026T>G (p.Val1009Gly)
c.3029T>G (p.Val1010Gly)
19g.15180214A>GCA404513811NOTCH3c.3185T>C (p.Val1062Ala)
c.3026T>C (p.Val1009Ala)
c.3029T>C (p.Val1010Ala)
19g.15180214A>TCA404513813NOTCH3c.3185T>A (p.Val1062Glu)
c.3026T>A (p.Val1009Glu)
c.3029T>A (p.Val1010Glu)
19g.15180215C>ACA404513818NOTCH3c.3184G>T (p.Val1062Leu)
c.3025G>T (p.Val1009Leu)
c.3028G>T (p.Val1010Leu)
19g.15180215C>GCA404513820NOTCH3c.3184G>C (p.Val1062Leu)
c.3025G>C (p.Val1009Leu)
c.3028G>C (p.Val1010Leu)
19g.15180215C>TCA404513821NOTCH3c.3184G>A (p.Val1062Met)
c.3025G>A (p.Val1009Met)
c.3028G>A (p.Val1010Met)
19g.15180216A>CCA404513824NOTCH3c.3183T>G (p.Cys1061Trp)
c.3024T>G (p.Cys1008Trp)
c.3027T>G (p.Cys1009Trp)
19g.15180216A>GCA505824370NOTCH3c.3183T>C (p.Cys1061=)
c.3024T>C (p.Cys1008=)
c.3027T>C (p.Cys1009=)
19g.15180216A>TCA404513826NOTCH3c.3183T>A (p.Cys1061Ter)
c.3024T>A (p.Cys1008Ter)
c.3027T>A (p.Cys1009Ter)
19g.15180217C>ACA404513828NOTCH3c.3182G>T (p.Cys1061Phe)
c.3023G>T (p.Cys1008Phe)
c.3026G>T (p.Cys1009Phe)
19g.15180217C=CA2324744288NOTCH3c.3182G= (p.Cys1061=)
c.3023G= (p.Cys1008=)
c.3026G= (p.Cys1009=)
19g.15180217C>GCA404513832NOTCH3c.3182G>C (p.Cys1061Ser)
c.3023G>C (p.Cys1008Ser)
c.3026G>C (p.Cys1009Ser)
19g.15180217C>TCA16620807NOTCH3c.3182G>A (p.Cys1061Tyr)
c.3023G>A (p.Cys1008Tyr)
c.3026G>A (p.Cys1009Tyr)
 ClinVar dbSNP gnomAD v4
19g.15180218A=CA2324744289NOTCH3c.3181T= (p.Cys1061=)
c.3022T= (p.Cys1008=)
c.3025T= (p.Cys1009=)
19g.15180218A>CCA404513834NOTCH3c.3181T>G (p.Cys1061Gly)
c.3022T>G (p.Cys1008Gly)
c.3025T>G (p.Cys1009Gly)
19g.15180218A>GCA404513837NOTCH3c.3181T>C (p.Cys1061Arg)
c.3022T>C (p.Cys1008Arg)
c.3025T>C (p.Cys1009Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.15180218A>TCA404513839NOTCH3c.3181T>A (p.Cys1061Ser)
c.3022T>A (p.Cys1008Ser)
c.3025T>A (p.Cys1009Ser)
19g.15180219C>ACA404513843NOTCH3c.3180G>T (p.Gln1060His)
c.3021G>T (p.Gln1007His)
c.3024G>T (p.Gln1008His)
 dbSNP gnomAD v2 gnomAD v4
19g.15180219C=CA2324744290NOTCH3c.3180G= (p.Gln1060=)
c.3021G= (p.Gln1007=)
c.3024G= (p.Gln1008=)
19g.15180219C>GCA404513844NOTCH3c.3180G>C (p.Gln1060His)
c.3021G>C (p.Gln1007His)
c.3024G>C (p.Gln1008His)
19g.15180219C>TCA505824371NOTCH3c.3180G>A (p.Gln1060=)
c.3021G>A (p.Gln1007=)
c.3024G>A (p.Gln1008=)
19g.15180220T>ACA404513847NOTCH3c.3179A>T (p.Gln1060Leu)
c.3020A>T (p.Gln1007Leu)
c.3023A>T (p.Gln1008Leu)
19g.15180220T>CCA404513849NOTCH3c.3179A>G (p.Gln1060Arg)
c.3020A>G (p.Gln1007Arg)
c.3023A>G (p.Gln1008Arg)
19g.15180220T>GCA404513852NOTCH3c.3179A>C (p.Gln1060Pro)
c.3020A>C (p.Gln1007Pro)
c.3023A>C (p.Gln1008Pro)
19g.15180221G>ACA404513855NOTCH3c.3178C>T (p.Gln1060Ter)
c.3019C>T (p.Gln1007Ter)
c.3022C>T (p.Gln1008Ter)
 dbSNP
19g.15180221G>CCA404513858NOTCH3c.3178C>G (p.Gln1060Glu)
c.3019C>G (p.Gln1007Glu)
c.3022C>G (p.Gln1008Glu)
19g.15180221G>TCA404513864NOTCH3c.3178C>A (p.Gln1060Lys)
c.3019C>A (p.Gln1007Lys)
c.3022C>A (p.Gln1008Lys)
19g.15180222C>ACA505824382NOTCH3c.3177G>T (p.Gly1059=)
c.3018G>T (p.Gly1006=)
c.3021G>T (p.Gly1007=)
19g.15180222C=CA2324744291NOTCH3c.3177G= (p.Gly1059=)
c.3018G= (p.Gly1006=)
c.3021G= (p.Gly1007=)
19g.15180222C>GCA505824385NOTCH3c.3177G>C (p.Gly1059=)
c.3018G>C (p.Gly1006=)
c.3021G>C (p.Gly1007=)
19g.15180222C>TCA9263159NOTCH3c.3177G>A (p.Gly1059=)
c.3018G>A (p.Gly1006=)
c.3021G>A (p.Gly1007=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180223C>ACA404513870NOTCH3c.3176G>T (p.Gly1059Val)
c.3017G>T (p.Gly1006Val)
c.3020G>T (p.Gly1007Val)
 dbSNP
19g.15180223C=CA2324744292NOTCH3c.3176G= (p.Gly1059=)
c.3017G= (p.Gly1006=)
c.3020G= (p.Gly1007=)
19g.15180223C>GCA404513868NOTCH3c.3176G>C (p.Gly1059Ala)
c.3017G>C (p.Gly1006Ala)
c.3020G>C (p.Gly1007Ala)
19g.15180223C>TCA404513871NOTCH3c.3176G>A (p.Gly1059Glu)
c.3017G>A (p.Gly1006Glu)
c.3020G>A (p.Gly1007Glu)
19g.15180224C>ACA404513874NOTCH3c.3175G>T (p.Gly1059Trp)
c.3016G>T (p.Gly1006Trp)
c.3019G>T (p.Gly1007Trp)
19g.15180224C>GCA404513879NOTCH3c.3175G>C (p.Gly1059Arg)
c.3016G>C (p.Gly1006Arg)
c.3019G>C (p.Gly1007Arg)
19g.15180224C>TCA404513876NOTCH3c.3175G>A (p.Gly1059Arg)
c.3016G>A (p.Gly1006Arg)
c.3019G>A (p.Gly1007Arg)
19g.15180225A=CA2324744293NOTCH3c.3174T= (p.Gly1058=)
c.3015T= (p.Gly1005=)
c.3018T= (p.Gly1006=)
19g.15180225A>CCA9263160NOTCH3c.3174T>G (p.Gly1058=)
c.3015T>G (p.Gly1005=)
c.3018T>G (p.Gly1006=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180225A>GCA505824415NOTCH3c.3174T>C (p.Gly1058=)
c.3015T>C (p.Gly1005=)
c.3018T>C (p.Gly1006=)
19g.15180225A>TCA505824418NOTCH3c.3174T>A (p.Gly1058=)
c.3015T>A (p.Gly1005=)
c.3018T>A (p.Gly1006=)
 dbSNP
19g.15180226C>ACA9263161NOTCH3c.3173G>T (p.Gly1058Val)
c.3014G>T (p.Gly1005Val)
c.3017G>T (p.Gly1006Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180226C=CA2324744294NOTCH3c.3173G= (p.Gly1058=)
c.3014G= (p.Gly1005=)
c.3017G= (p.Gly1006=)
19g.15180226C>GCA404513882NOTCH3c.3173G>C (p.Gly1058Ala)
c.3014G>C (p.Gly1005Ala)
c.3017G>C (p.Gly1006Ala)
19g.15180226C>TCA404513884NOTCH3c.3173G>A (p.Gly1058Asp)
c.3014G>A (p.Gly1005Asp)
c.3017G>A (p.Gly1006Asp)
19g.15180227C>ACA404513887NOTCH3c.3172G>T (p.Gly1058Cys)
c.3013G>T (p.Gly1005Cys)
c.3016G>T (p.Gly1006Cys)
 ClinVar
19g.15180227C>GCA404513890NOTCH3c.3172G>C (p.Gly1058Arg)
c.3013G>C (p.Gly1005Arg)
c.3016G>C (p.Gly1006Arg)
19g.15180227C>TCA404513892NOTCH3c.3172G>A (p.Gly1058Ser)
c.3013G>A (p.Gly1005Ser)
c.3016G>A (p.Gly1006Ser)
 gnomAD v4
19g.15180229_15180231delCA2583062883NOTCH3c.3170_3172del (p.Ala1057del)
c.3011_3013del (p.Ala1004del)
c.3014_3016del (p.Ala1005del)
 gnomAD v4
19g.15180228C>ACA505824434NOTCH3c.3171G>T (p.Ala1057=)
c.3012G>T (p.Ala1004=)
c.3015G>T (p.Ala1005=)
19g.15180228C=CA2324744295NOTCH3c.3171G= (p.Ala1057=)
c.3012G= (p.Ala1004=)
c.3015G= (p.Ala1005=)
19g.15180228C>GCA9263162NOTCH3c.3171G>C (p.Ala1057=)
c.3012G>C (p.Ala1004=)
c.3015G>C (p.Ala1005=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180228C>TCA505824437NOTCH3c.3171G>A (p.Ala1057=)
c.3012G>A (p.Ala1004=)
c.3015G>A (p.Ala1005=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched