Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15191883G>ACA9263810NOTCH3c.680-16C>T (n.680-16C>T)
c.677-16C>T (n.677-16C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191883G=CA2324749889NOTCH3c.680-16C= (n.680-16C=)
c.677-16C= (n.677-16C=)
19g.15191883G>TCA2583065578NOTCH3c.680-16C>A (n.680-16C>A)
c.677-16C>A (n.677-16C>A)
 gnomAD v4
19g.15191884C>TCA2735786608NOTCH3c.680-17G>A (n.680-17G>A)
c.677-17G>A (n.677-17G>A)
 dbSNP
19g.15191887G>ACA783621430NOTCH3c.680-20C>T (n.680-20C>T)
c.677-20C>T (n.677-20C>T)
 dbSNP
19g.15191887G>CCA632128102NOTCH3c.680-20C>G (n.680-20C>G)
c.677-20C>G (n.677-20C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.15191887G=CA2324749890NOTCH3c.680-20C= (n.680-20C=)
c.677-20C= (n.677-20C=)
19g.15191889A>TCA2583065579NOTCH3c.680-22T>A (n.680-22T>A)
c.677-22T>A (n.677-22T>A)
 gnomAD v4
19g.15191889_15191890delinsATCA2324749891NOTCH3c.680-23_680-22delinsAT (n.680-23_680-22delinsAT)
c.677-23_677-22delinsAT (n.677-23_677-22delinsAT)
19g.15191890delCA2324749892NOTCH3c.680-23del (n.680-23del)
c.677-23del (n.677-23del)
 dbSNP
19g.15191890T>ACA9263811NOTCH3c.680-23A>T (n.680-23A>T)
c.677-23A>T (n.677-23A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191890T>CCA9263812NOTCH3c.680-23A>G (n.680-23A>G)
c.677-23A>G (n.677-23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191890T=CA2324749893NOTCH3c.680-23A= (n.680-23A=)
c.677-23A= (n.677-23A=)
19g.15191891G>ACA9263813NOTCH3c.680-24C>T (n.680-24C>T)
c.677-24C>T (n.677-24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191891G=CA2324749894NOTCH3c.680-24C= (n.680-24C=)
c.677-24C= (n.677-24C=)
19g.15191892delCA2735786654NOTCH3c.680-24del (n.680-24del)
c.677-24del (n.677-24del)
 dbSNP
19g.15191892G>ACA2735786658NOTCH3c.680-25C>T (n.680-25C>T)
c.677-25C>T (n.677-25C>T)
 dbSNP
19g.15191893T>ACA2735786690NOTCH3c.680-26A>T (n.680-26A>T)
c.677-26A>T (n.677-26A>T)
 dbSNP
19g.15191893T>CCA2583065580NOTCH3c.680-26A>G (n.680-26A>G)
c.677-26A>G (n.677-26A>G)
 gnomAD v4
19g.15191894C>GCA2583065581NOTCH3c.680-27G>C (n.680-27G>C)
c.677-27G>C (n.677-27G>C)
 gnomAD v4
19g.15191894C>TCA2735786692NOTCH3c.680-27G>A (n.680-27G>A)
c.677-27G>A (n.677-27G>A)
 dbSNP
19g.15191895A=CA2324749895NOTCH3c.680-28T= (n.680-28T=)
c.677-28T= (n.677-28T=)
19g.15191895A>CCA2324749896NOTCH3c.680-28T>G (n.680-28T>G)
c.677-28T>G (n.677-28T>G)
 dbSNP
19g.15191895A>TCA2735654573NOTCH3c.680-28T>A (n.680-28T>A)
c.677-28T>A (n.677-28T>A)
 dbSNP
19g.15191896C>TCA2735786698NOTCH3c.680-29G>A (n.680-29G>A)
c.677-29G>A (n.677-29G>A)
 dbSNP
19g.15191897_15191919delCA2583065582NOTCH3c.679+42_680-29del (n.679+42_680-29del)
c.676+42_677-29del (n.676+42_677-29del)
 gnomAD v4
19g.15191897C=CA2324749897NOTCH3c.680-30G= (n.680-30G=)
c.677-30G= (n.677-30G=)
19g.15191897C>TCA9263814NOTCH3c.680-30G>A (n.680-30G>A)
c.677-30G>A (n.677-30G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191898G>ACA305777642NOTCH3c.680-31C>T (n.680-31C>T)
c.677-31C>T (n.677-31C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.15191898G>CCA9263815NOTCH3c.680-31C>G (n.680-31C>G)
c.677-31C>G (n.677-31C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191898G=CA2324749898NOTCH3c.680-31C= (n.680-31C=)
c.677-31C= (n.677-31C=)
19g.15191899C>ACA2735786701NOTCH3c.680-32G>T (n.680-32G>T)
c.677-32G>T (n.677-32G>T)
 dbSNP
19g.15191900C>ACA2576658938NOTCH3c.680-33G>T (n.680-33G>T)
c.677-33G>T (n.677-33G>T)
19g.15191900C=CA2324749899NOTCH3c.680-33G= (n.680-33G=)
c.677-33G= (n.677-33G=)
19g.15191900C>GCA2735624615NOTCH3c.680-33G>C (n.680-33G>C)
c.677-33G>C (n.677-33G>C)
 dbSNP
19g.15191900C>TCA9263816NOTCH3c.680-33G>A (n.680-33G>A)
c.677-33G>A (n.677-33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191901G>ACA9263817NOTCH3c.680-34C>T (n.680-34C>T)
c.677-34C>T (n.677-34C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191901G>CCA2583065585NOTCH3c.680-34C>G (n.680-34C>G)
c.677-34C>G (n.677-34C>G)
 gnomAD v4
19g.15191901G=CA2324749900NOTCH3c.680-34C= (n.680-34C=)
c.677-34C= (n.677-34C=)
19g.15191902G>ACA2583065586NOTCH3c.680-35C>T (n.680-35C>T)
c.677-35C>T (n.677-35C>T)
 gnomAD v4
19g.15191903G>ACA632128103NOTCH3c.680-36C>T (n.680-36C>T)
c.677-36C>T (n.677-36C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.15191903G>CCA2583065587NOTCH3c.680-36C>G (n.680-36C>G)
c.677-36C>G (n.677-36C>G)
 dbSNP gnomAD v4
19g.15191903G=CA2324749901NOTCH3c.680-36C= (n.680-36C=)
c.677-36C= (n.677-36C=)
19g.15191904C>ACA9263818NOTCH3c.680-37G>T (n.680-37G>T)
c.677-37G>T (n.677-37G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191904C=CA2324749902NOTCH3c.680-37G= (n.680-37G=)
c.677-37G= (n.677-37G=)
19g.15191906G>ACA783621431NOTCH3c.680-39C>T (n.680-39C>T)
c.677-39C>T (n.677-39C>T)
 dbSNP gnomAD v4
19g.15191906G=CA2324749903NOTCH3c.680-39C= (n.680-39C=)
c.677-39C= (n.677-39C=)
19g.15191907G>ACA2735786706NOTCH3c.680-40C>T (n.680-40C>T)
c.677-40C>T (n.677-40C>T)
 dbSNP
19g.15191908C>ACA632128104NOTCH3c.680-41G>T (n.680-41G>T)
c.677-41G>T (n.677-41G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.15191908C=CA2324749904NOTCH3c.680-41G= (n.680-41G=)
c.677-41G= (n.677-41G=)
19g.15191908C>GCA2735651737NOTCH3c.680-41G>C (n.680-41G>C)
c.677-41G>C (n.677-41G>C)
 dbSNP
19g.15191908C>TCA2583065590NOTCH3c.680-41G>A (n.680-41G>A)
c.677-41G>A (n.677-41G>A)
 dbSNP gnomAD v4
19g.15191911G>ACA2735786718NOTCH3c.680-44C>T (n.680-44C>T)
c.677-44C>T (n.677-44C>T)
 dbSNP
19g.15191912C>ACA2735786729NOTCH3c.680-45G>T (n.680-45G>T)
c.677-45G>T (n.677-45G>T)
 dbSNP
19g.15191912C>GCA2735786731NOTCH3c.680-45G>C (n.680-45G>C)
c.677-45G>C (n.677-45G>C)
 dbSNP
19g.15191912C>TCA2735786760NOTCH3c.680-45G>A (n.680-45G>A)
c.677-45G>A (n.677-45G>A)
 dbSNP
19g.15191914G>CCA2735650902NOTCH3c.680-47C>G (n.680-47C>G)
c.677-47C>G (n.677-47C>G)
 dbSNP
19g.15191914G=CA2324749905NOTCH3c.680-47C= (n.680-47C=)
c.677-47C= (n.677-47C=)
19g.15191914G>TCA783621432NOTCH3c.680-47C>A (n.680-47C>A)
c.677-47C>A (n.677-47C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.15191916C>ACA2583065591NOTCH3c.679+44G>T (n.679+44G>T)
c.676+44G>T (n.676+44G>T)
 gnomAD v4
19g.15191918C=CA2324749906NOTCH3c.679+42G= (n.679+42G=)
c.676+42G= (n.676+42G=)
19g.15191918C>GCA632128105NOTCH3c.679+42G>C (n.679+42G>C)
c.676+42G>C (n.676+42G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.15191918C>TCA632128106NOTCH3c.679+42G>A (n.679+42G>A)
c.676+42G>A (n.676+42G>A)
 dbSNP gnomAD v2
19g.15191920A>TCA2735786762NOTCH3c.679+40T>A (n.679+40T>A)
c.676+40T>A (n.676+40T>A)
 dbSNP
19g.15191921C>ACA2583065593NOTCH3c.679+39G>T (n.679+39G>T)
c.676+39G>T (n.676+39G>T)
 gnomAD v4
19g.15191921C=CA2324749907NOTCH3c.679+39G= (n.679+39G=)
c.676+39G= (n.676+39G=)
19g.15191921C>TCA9263819NOTCH3c.679+39G>A (n.679+39G>A)
c.676+39G>A (n.676+39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191922G>ACA9263820NOTCH3c.679+38C>T (n.679+38C>T)
c.676+38C>T (n.676+38C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191922G>CCA2735619898NOTCH3c.679+38C>G (n.679+38C>G)
c.676+38C>G (n.676+38C>G)
 dbSNP
19g.15191922G=CA2324749908NOTCH3c.679+38C= (n.679+38C=)
c.676+38C= (n.676+38C=)
19g.15191922G>TCA2583065595NOTCH3c.679+38C>A (n.679+38C>A)
c.676+38C>A (n.676+38C>A)
 gnomAD v4
19g.15191923C>ACA2735635925NOTCH3c.679+37G>T (n.679+37G>T)
c.676+37G>T (n.676+37G>T)
 dbSNP
19g.15191923C=CA2324749909NOTCH3c.679+37G= (n.679+37G=)
c.676+37G= (n.676+37G=)
19g.15191923C>TCA632128107NOTCH3c.679+37G>A (n.679+37G>A)
c.676+37G>A (n.676+37G>A)
 dbSNP gnomAD v2
19g.15191924C>ACA2324749911NOTCH3c.679+36G>T (n.679+36G>T)
c.676+36G>T (n.676+36G>T)
 dbSNP
19g.15191924C=CA2324749910NOTCH3c.679+36G= (n.679+36G=)
c.676+36G= (n.676+36G=)
19g.15191924C>TCA9263821NOTCH3c.679+36G>A (n.679+36G>A)
c.676+36G>A (n.676+36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191925C>ACA2735786774NOTCH3c.679+35G>T (n.679+35G>T)
c.676+35G>T (n.676+35G>T)
 dbSNP
19g.15191926A=CA2324749912NOTCH3c.679+34T= (n.679+34T=)
c.676+34T= (n.676+34T=)
19g.15191926A>CCA2735623992NOTCH3c.679+34T>G (n.679+34T>G)
c.676+34T>G (n.676+34T>G)
 dbSNP
19g.15191926A>GCA9263823NOTCH3c.679+34T>C (n.679+34T>C)
c.676+34T>C (n.676+34T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191926A>TCA2583065597NOTCH3c.679+34T>A (n.679+34T>A)
c.676+34T>A (n.676+34T>A)
 gnomAD v4
19g.15191927C=CA2324749913NOTCH3c.679+33G= (n.679+33G=)
c.676+33G= (n.676+33G=)
19g.15191927C>TCA657366705NOTCH3c.679+33G>A (n.679+33G>A)
c.676+33G>A (n.676+33G>A)
 dbSNP gnomAD v4 COSMIC
19g.15191930dupCA9263822NOTCH3c.679+33dup (n.679+33dup)
c.676+33dup (n.676+33dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191928C>ACA9263824NOTCH3c.679+32G>T (n.679+32G>T)
c.676+32G>T (n.676+32G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191928C=CA2324749914NOTCH3c.679+32G= (n.679+32G=)
c.676+32G= (n.676+32G=)
19g.15191928C>GCA2583065601NOTCH3c.679+32G>C (n.679+32G>C)
c.676+32G>C (n.676+32G>C)
 gnomAD v4
19g.15191929C=CA2324749917NOTCH3c.679+31G= (n.679+31G=)
c.676+31G= (n.676+31G=)
19g.15191929C>TCA2324749916NOTCH3c.679+31G>A (n.679+31G>A)
c.676+31G>A (n.676+31G>A)
 dbSNP gnomAD v4
19g.15191929_15191931delinsCCTCA2324749915NOTCH3c.679+29_679+31delinsAGG (n.679+29_679+31delinsAGG)
c.676+29_676+31delinsAGG (n.676+29_676+31delinsAGG)
19g.15191930C>ACA2583065602NOTCH3c.679+30G>T (n.679+30G>T)
c.676+30G>T (n.676+30G>T)
 gnomAD v4
19g.15191932_15191933delCA9263825NOTCH3c.679+29_679+30del (n.679+29_679+30del)
c.676+29_676+30del (n.676+29_676+30del)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191930_15191931insCTCA305777668NOTCH3c.679+29_679+30insAG (n.679+29_679+30insAG)
c.676+29_676+30insAG (n.676+29_676+30insAG)
19g.15191931delCA2583065603NOTCH3c.679+29del (n.679+29del)
c.676+29del (n.676+29del)
 gnomAD v4
19g.15191932C>ACA2583065604NOTCH3c.679+28G>T (n.679+28G>T)
c.676+28G>T (n.676+28G>T)
 gnomAD v4
19g.15191932C=CA2324749918NOTCH3c.679+28G= (n.679+28G=)
c.676+28G= (n.676+28G=)
19g.15191932C>TCA2324749919NOTCH3c.679+28G>A (n.679+28G>A)
c.676+28G>A (n.676+28G>A)
 dbSNP
19g.15191933T>CCA2583065606NOTCH3c.679+27A>G (n.679+27A>G)
c.676+27A>G (n.676+27A>G)
 gnomAD v4
19g.15191934G>CCA2583065607NOTCH3c.679+26C>G (n.679+26C>G)
c.676+26C>G (n.676+26C>G)
 dbSNP gnomAD v4
19g.15191935A>GCA2735786893NOTCH3c.679+25T>C (n.679+25T>C)
c.676+25T>C (n.676+25T>C)
 dbSNP
19g.15191935A>TCA2735786889NOTCH3c.679+25T>A (n.679+25T>A)
c.676+25T>A (n.676+25T>A)
 dbSNP
19g.15191936C>ACA2735623701NOTCH3c.679+24G>T (n.679+24G>T)
c.676+24G>T (n.676+24G>T)
 dbSNP
19g.15191936C=CA2324749920NOTCH3c.679+24G= (n.679+24G=)
c.676+24G= (n.676+24G=)
19g.15191936C>TCA9263826NOTCH3c.679+24G>A (n.679+24G>A)
c.676+24G>A (n.676+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191937T>CCA2735786894NOTCH3c.679+23A>G (n.679+23A>G)
c.676+23A>G (n.676+23A>G)
 dbSNP
19g.15191940C>TCA2583065608NOTCH3c.679+20G>A (n.679+20G>A)
c.676+20G>A (n.676+20G>A)
 gnomAD v4
19g.15191941C>ACA2735786895NOTCH3c.679+19G>T (n.679+19G>T)
c.676+19G>T (n.676+19G>T)
 dbSNP
19g.15191943G>ACA2735786910NOTCH3c.679+17C>T (n.679+17C>T)
c.676+17C>T (n.676+17C>T)
 dbSNP
19g.15191944A=CA2324749921NOTCH3c.679+16T= (n.679+16T=)
c.676+16T= (n.676+16T=)
19g.15191944A>GCA9263827NOTCH3c.679+16T>C (n.679+16T>C)
c.676+16T>C (n.676+16T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191944A>TCA657366710NOTCH3c.679+16T>A (n.679+16T>A)
c.676+16T>A (n.676+16T>A)
 COSMIC COSMIC
19g.15191945G>ACA9263828NOTCH3c.679+15C>T (n.679+15C>T)
c.676+15C>T (n.676+15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191945G>CCA305777687NOTCH3c.679+15C>G (n.679+15C>G)
c.676+15C>G (n.676+15C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.15191945G=CA2324749922NOTCH3c.679+15C= (n.679+15C=)
c.676+15C= (n.676+15C=)
19g.15191946T>ACA2735786924NOTCH3c.679+14A>T (n.679+14A>T)
c.676+14A>T (n.676+14A>T)
 dbSNP
19g.15191946T>CCA2583065612NOTCH3c.679+14A>G (n.679+14A>G)
c.676+14A>G (n.676+14A>G)
 gnomAD v4
19g.15191946T>GCA2583065613NOTCH3c.679+14A>C (n.679+14A>C)
c.676+14A>C (n.676+14A>C)
 gnomAD v4
19g.15191949G>ACA2813728457NOTCH3c.679+11C>T (n.679+11C>T)
c.676+11C>T (n.676+11C>T)
19g.15191949G>CCA2735786981NOTCH3c.679+11C>G (n.679+11C>G)
c.676+11C>G (n.676+11C>G)
 dbSNP
19g.15191950G>ACA632128108NOTCH3c.679+10C>T (n.679+10C>T)
c.676+10C>T (n.676+10C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191950G>CCA305777693NOTCH3c.679+10C>G (n.679+10C>G)
c.676+10C>G (n.676+10C>G)
 ClinVar dbSNP gnomAD v4
19g.15191950G=CA2324749923NOTCH3c.679+10C= (n.679+10C=)
c.676+10C= (n.676+10C=)
19g.15191952T>ACA2735787066NOTCH3c.679+8A>T (n.679+8A>T)
c.676+8A>T (n.676+8A>T)
 dbSNP
19g.15191955C>GCA2735787068NOTCH3c.679+5G>C (n.679+5G>C)
c.676+5G>C (n.676+5G>C)
 dbSNP
19g.15191957C>ACA9263829NOTCH3c.679+3G>T (n.679+3G>T)
c.676+3G>T (n.676+3G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191957C=CA2324749924NOTCH3c.679+3G= (n.679+3G=)
c.676+3G= (n.676+3G=)
19g.15191957C>GCA993898975NOTCH3c.679+3G>C (n.679+3G>C)
c.676+3G>C (n.676+3G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.15191958A>CCA404533005NOTCH3c.679+2T>G (n.679+2T>G)
c.676+2T>G (n.676+2T>G)
19g.15191958A>GCA404533006NOTCH3c.679+2T>C (n.679+2T>C)
c.676+2T>C (n.676+2T>C)
19g.15191958A>TCA404533008NOTCH3c.679+2T>A (n.679+2T>A)
c.676+2T>A (n.676+2T>A)
19g.15191959C>ACA404533011NOTCH3c.679+1G>T (n.679+1G>T)
c.676+1G>T (n.676+1G>T)
 dbSNP
19g.15191959C>GCA404533012NOTCH3c.679+1G>C (n.679+1G>C)
c.676+1G>C (n.676+1G>C)
19g.15191959C>TCA404533013NOTCH3c.679+1G>A (n.679+1G>A)
c.676+1G>A (n.676+1G>A)
 COSMIC COSMIC
19g.15191960C>ACA404533018NOTCH3c.679G>T (p.Gly227Trp)
c.676G>T (p.Gly226Trp)
 dbSNP
19g.15191960C=CA2324749925NOTCH3c.679G= (p.Gly227=)
c.676G= (p.Gly226=)
19g.15191960C>GCA404533016NOTCH3c.679G>C (p.Gly227Arg)
c.676G>C (p.Gly226Arg)
 gnomAD v4
19g.15191960C>TCA404533014NOTCH3c.679G>A (p.Gly227Arg)
c.676G>A (p.Gly226Arg)
19g.15191961A=CA2324749926NOTCH3c.678T= (p.Pro226=)
c.675T= (p.Pro225=)
19g.15191961A>CCA506078609NOTCH3c.678T>G (p.Pro226=)
c.675T>G (p.Pro225=)
19g.15191961A>GCA9263830NOTCH3c.678T>C (p.Pro226=)
c.675T>C (p.Pro225=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191961A>TCA506078610NOTCH3c.678T>A (p.Pro226=)
c.675T>A (p.Pro225=)
19g.15191962G>ACA404533021NOTCH3c.677C>T (p.Pro226Leu)
c.674C>T (p.Pro225Leu)
 gnomAD v4
19g.15191962G>CCA404533022NOTCH3c.677C>G (p.Pro226Arg)
c.674C>G (p.Pro225Arg)
19g.15191962G>TCA404533023NOTCH3c.677C>A (p.Pro226His)
c.674C>A (p.Pro225His)
19g.15191963G>ACA404533026NOTCH3c.676C>T (p.Pro226Ser)
c.673C>T (p.Pro225Ser)
 dbSNP COSMIC COSMIC
19g.15191963G>CCA404533035NOTCH3c.676C>G (p.Pro226Ala)
c.673C>G (p.Pro225Ala)
19g.15191963G>TCA404533037NOTCH3c.676C>A (p.Pro226Thr)
c.673C>A (p.Pro225Thr)
19g.15191964A>CCA506078611NOTCH3c.675T>G (p.Leu225=)
c.672T>G (p.Leu224=)
19g.15191964A>GCA506078612NOTCH3c.675T>C (p.Leu225=)
c.672T>C (p.Leu224=)
19g.15191964A>TCA506078613NOTCH3c.675T>A (p.Leu225=)
c.672T>A (p.Leu224=)
19g.15191965A=CA2324749927NOTCH3c.674T= (p.Leu225=)
c.671T= (p.Leu224=)
19g.15191965A>CCA9263831NOTCH3c.674T>G (p.Leu225Arg)
c.671T>G (p.Leu224Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191965A>GCA404533040NOTCH3c.674T>C (p.Leu225Pro)
c.671T>C (p.Leu224Pro)
19g.15191965A>TCA404533042NOTCH3c.674T>A (p.Leu225His)
c.671T>A (p.Leu224His)
19g.15191966G>ACA404533046NOTCH3c.673C>T (p.Leu225Phe)
c.670C>T (p.Leu224Phe)
19g.15191966G>CCA404533048NOTCH3c.673C>G (p.Leu225Val)
c.670C>G (p.Leu224Val)
19g.15191966G>TCA404533050NOTCH3c.673C>A (p.Leu225Ile)
c.670C>A (p.Leu224Ile)
19g.15191967A>CCA404533052NOTCH3c.672T>G (p.Cys224Trp)
c.669T>G (p.Cys223Trp)
 dbSNP
19g.15191967A>GCA506078614NOTCH3c.672T>C (p.Cys224=)
c.669T>C (p.Cys223=)
19g.15191967A>TCA404533053NOTCH3c.672T>A (p.Cys224Ter)
c.669T>A (p.Cys223Ter)
19g.15191968C>ACA404533056NOTCH3c.671G>T (p.Cys224Phe)
c.668G>T (p.Cys223Phe)
19g.15191968C=CA2324749928NOTCH3c.671G= (p.Cys224=)
c.668G= (p.Cys223=)
19g.15191968C>GCA404533061NOTCH3c.671G>C (p.Cys224Ser)
c.668G>C (p.Cys223Ser)
 dbSNP
19g.15191968C>TCA404533058NOTCH3c.671G>A (p.Cys224Tyr)
c.668G>A (p.Cys223Tyr)
 ClinVar dbSNP
19g.15191969A>CCA404533063NOTCH3c.670T>G (p.Cys224Gly)
c.667T>G (p.Cys223Gly)
19g.15191969A>GCA404533065NOTCH3c.670T>C (p.Cys224Arg)
c.667T>C (p.Cys223Arg)
 dbSNP
19g.15191969A>TCA404533066NOTCH3c.670T>A (p.Cys224Ser)
c.667T>A (p.Cys223Ser)
19g.15191970G>ACA506078616NOTCH3c.669C>T (p.Ala223=)
c.666C>T (p.Ala222=)
 gnomAD v4
19g.15191970G>CCA9263832NOTCH3c.669C>G (p.Ala223=)
c.666C>G (p.Ala222=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191970G=CA2324749929NOTCH3c.669C= (p.Ala223=)
c.666C= (p.Ala222=)
19g.15191970G>TCA506078615NOTCH3c.669C>A (p.Ala223=)
c.666C>A (p.Ala222=)
19g.15191971G>ACA9263833NOTCH3c.668C>T (p.Ala223Val)
c.665C>T (p.Ala222Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191971G>CCA404533070NOTCH3c.668C>G (p.Ala223Gly)
c.665C>G (p.Ala222Gly)
19g.15191971G=CA2324749930NOTCH3c.668C= (p.Ala223=)
c.665C= (p.Ala222=)
19g.15191971G>TCA404533072NOTCH3c.668C>A (p.Ala223Asp)
c.665C>A (p.Ala222Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191972C>ACA404533074NOTCH3c.667G>T (p.Ala223Ser)
c.664G>T (p.Ala222Ser)
19g.15191972C>GCA404533077NOTCH3c.667G>C (p.Ala223Pro)
c.664G>C (p.Ala222Pro)
19g.15191972C>TCA404533078NOTCH3c.667G>A (p.Ala223Thr)
c.664G>A (p.Ala222Thr)
19g.15191974_15191975delCA2813728458NOTCH3c.666_667del (p.Ala223LeufsTer6)
c.663_664del (p.Ala222LeufsTer6)
19g.15191973A>CCA404533080NOTCH3c.666T>G (p.Cys222Trp)
c.663T>G (p.Cys221Trp)
 dbSNP
19g.15191973A>GCA506078618NOTCH3c.666T>C (p.Cys222=)
c.663T>C (p.Cys221=)
19g.15191973A>TCA404533081NOTCH3c.666T>A (p.Cys222Ter)
c.663T>A (p.Cys221Ter)
 dbSNP
19g.15191974C>ACA404533084NOTCH3c.665G>T (p.Cys222Phe)
c.662G>T (p.Cys221Phe)
19g.15191974C=CA2324749931NOTCH3c.665G= (p.Cys222=)
c.662G= (p.Cys221=)
19g.15191974C>GCA404533083NOTCH3c.665G>C (p.Cys222Ser)
c.662G>C (p.Cys221Ser)
 ClinVar
19g.15191974C>TCA404533082NOTCH3c.665G>A (p.Cys222Tyr)
c.662G>A (p.Cys221Tyr)
 ClinVar dbSNP
19g.15191975A>CCA404533086NOTCH3c.664T>G (p.Cys222Gly)
c.661T>G (p.Cys221Gly)
19g.15191975A>GCA404533087NOTCH3c.664T>C (p.Cys222Arg)
c.661T>C (p.Cys221Arg)
 ClinVar
19g.15191975A>TCA404533093NOTCH3c.664T>A (p.Cys222Ser)
c.661T>A (p.Cys221Ser)
19g.15191976G>ACA506078620NOTCH3c.663C>T (p.Asp221=)
c.660C>T (p.Asp220=)
 gnomAD v4
19g.15191976G>CCA404533095NOTCH3c.663C>G (p.Asp221Glu)
c.660C>G (p.Asp220Glu)
19g.15191976G>TCA404533097NOTCH3c.663C>A (p.Asp221Glu)
c.660C>A (p.Asp220Glu)
19g.15191977T>ACA404533101NOTCH3c.662A>T (p.Asp221Val)
c.659A>T (p.Asp220Val)
19g.15191977T>CCA404533099NOTCH3c.662A>G (p.Asp221Gly)
c.659A>G (p.Asp220Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.15191977T>GCA404533098NOTCH3c.662A>C (p.Asp221Ala)
c.659A>C (p.Asp220Ala)
19g.15191977T=CA2324749932NOTCH3c.662A= (p.Asp221=)
c.659A= (p.Asp220=)
19g.15191978C>ACA305777732NOTCH3c.661G>T (p.Asp221Tyr)
c.658G>T (p.Asp220Tyr)
 dbSNP gnomAD v3 gnomAD v4
19g.15191978C=CA2324749933NOTCH3c.661G= (p.Asp221=)
c.658G= (p.Asp220=)
19g.15191978C>GCA404533105NOTCH3c.661G>C (p.Asp221His)
c.658G>C (p.Asp220His)
 dbSNP
19g.15191978C>TCA9263834NOTCH3c.661G>A (p.Asp221Asn)
c.658G>A (p.Asp220Asn)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
19g.15191978_15191982delinsCGTAACA2324749934NOTCH3c.657_661delinsTTACG (p.Thr219=)
c.654_658delinsTTACG (p.Thr218=)
19g.15191979G>ACA9263835NOTCH3c.660C>T (p.Tyr220=)
c.657C>T (p.Tyr219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15191979G>CCA404533109NOTCH3c.660C>G (p.Tyr220Ter)
c.657C>G (p.Tyr219Ter)
 dbSNP
19g.15191979G=CA2324749935NOTCH3c.660C= (p.Tyr220=)
c.657C= (p.Tyr219=)
19g.15191979G>TCA404533111NOTCH3c.660C>A (p.Tyr220Ter)
c.657C>A (p.Tyr219Ter)
19g.15191981_15191984delCA783621433NOTCH3c.657_660del (p.Tyr220ThrfsTer15)
c.654_657del (p.Tyr219ThrfsTer15)
 dbSNP
19g.15191980T>ACA404533114NOTCH3c.659A>T (p.Tyr220Phe)
c.656A>T (p.Tyr219Phe)
 dbSNP
19g.15191980T>CCA404533118NOTCH3c.659A>G (p.Tyr220Cys)
c.656A>G (p.Tyr219Cys)
19g.15191980T>GCA404533116NOTCH3c.659A>C (p.Tyr220Ser)
c.656A>C (p.Tyr219Ser)
19g.15191980dupCA9263836NOTCH3c.659dup (p.Tyr220Ter)
c.656dup (p.Tyr219Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191981A>CCA404533120NOTCH3c.658T>G (p.Tyr220Asp)
c.655T>G (p.Tyr219Asp)
19g.15191981A>GCA404533122NOTCH3c.658T>C (p.Tyr220His)
c.655T>C (p.Tyr219His)
19g.15191981A>TCA404533124NOTCH3c.658T>A (p.Tyr220Asn)
c.655T>A (p.Tyr219Asn)
19g.15191982A>CCA506078624NOTCH3c.657T>G (p.Thr219=)
c.654T>G (p.Thr218=)
19g.15191982A>GCA506078625NOTCH3c.657T>C (p.Thr219=)
c.654T>C (p.Thr218=)
19g.15191982A>TCA506078626NOTCH3c.657T>A (p.Thr219=)
c.654T>A (p.Thr218=)
19g.15191983G>ACA404533126NOTCH3c.656C>T (p.Thr219Ile)
c.653C>T (p.Thr218Ile)
19g.15191983G>CCA404533128NOTCH3c.656C>G (p.Thr219Ser)
c.653C>G (p.Thr218Ser)
19g.15191983G>TCA404533130NOTCH3c.656C>A (p.Thr219Asn)
c.653C>A (p.Thr218Asn)

Number of alleles fetched