Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15191887G>A | CA783621430 | NOTCH3 | c.680-20C>T (n.680-20C>T) c.677-20C>T (n.677-20C>T) | dbSNP |
19 | g.15191887G>C | CA632128102 | NOTCH3 | c.680-20C>G (n.680-20C>G) c.677-20C>G (n.677-20C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191887G= | CA2324749890 | NOTCH3 | c.680-20C= (n.680-20C=) c.677-20C= (n.677-20C=) | |
19 | g.15191889A>T | CA2583065579 | NOTCH3 | c.680-22T>A (n.680-22T>A) c.677-22T>A (n.677-22T>A) | gnomAD v4 |
19 | g.15191889_15191890delinsAT | CA2324749891 | NOTCH3 | c.680-23_680-22delinsAT (n.680-23_680-22delinsAT) c.677-23_677-22delinsAT (n.677-23_677-22delinsAT) | |
19 | g.15191890del | CA2324749892 | NOTCH3 | c.680-23del (n.680-23del) c.677-23del (n.677-23del) | dbSNP |
19 | g.15191890T>A | CA9263811 | NOTCH3 | c.680-23A>T (n.680-23A>T) c.677-23A>T (n.677-23A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191890T>C | CA9263812 | NOTCH3 | c.680-23A>G (n.680-23A>G) c.677-23A>G (n.677-23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191890T= | CA2324749893 | NOTCH3 | c.680-23A= (n.680-23A=) c.677-23A= (n.677-23A=) | |
19 | g.15191891G>A | CA9263813 | NOTCH3 | c.680-24C>T (n.680-24C>T) c.677-24C>T (n.677-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191891G= | CA2324749894 | NOTCH3 | c.680-24C= (n.680-24C=) c.677-24C= (n.677-24C=) | |
19 | g.15191892del | CA2735786654 | NOTCH3 | c.680-24del (n.680-24del) c.677-24del (n.677-24del) | dbSNP |
19 | g.15191892G>A | CA2735786658 | NOTCH3 | c.680-25C>T (n.680-25C>T) c.677-25C>T (n.677-25C>T) | dbSNP |
19 | g.15191893T>A | CA2735786690 | NOTCH3 | c.680-26A>T (n.680-26A>T) c.677-26A>T (n.677-26A>T) | dbSNP |
19 | g.15191893T>C | CA2583065580 | NOTCH3 | c.680-26A>G (n.680-26A>G) c.677-26A>G (n.677-26A>G) | gnomAD v4 |
19 | g.15191894C>G | CA2583065581 | NOTCH3 | c.680-27G>C (n.680-27G>C) c.677-27G>C (n.677-27G>C) | gnomAD v4 |
19 | g.15191894C>T | CA2735786692 | NOTCH3 | c.680-27G>A (n.680-27G>A) c.677-27G>A (n.677-27G>A) | dbSNP |
19 | g.15191895A= | CA2324749895 | NOTCH3 | c.680-28T= (n.680-28T=) c.677-28T= (n.677-28T=) | |
19 | g.15191895A>C | CA2324749896 | NOTCH3 | c.680-28T>G (n.680-28T>G) c.677-28T>G (n.677-28T>G) | dbSNP |
19 | g.15191895A>T | CA2735654573 | NOTCH3 | c.680-28T>A (n.680-28T>A) c.677-28T>A (n.677-28T>A) | dbSNP |
19 | g.15191896C>T | CA2735786698 | NOTCH3 | c.680-29G>A (n.680-29G>A) c.677-29G>A (n.677-29G>A) | dbSNP |
19 | g.15191897_15191919del | CA2583065582 | NOTCH3 | c.679+42_680-29del (n.679+42_680-29del) c.676+42_677-29del (n.676+42_677-29del) | gnomAD v4 |
19 | g.15191897C= | CA2324749897 | NOTCH3 | c.680-30G= (n.680-30G=) c.677-30G= (n.677-30G=) | |
19 | g.15191897C>T | CA9263814 | NOTCH3 | c.680-30G>A (n.680-30G>A) c.677-30G>A (n.677-30G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191898G>A | CA305777642 | NOTCH3 | c.680-31C>T (n.680-31C>T) c.677-31C>T (n.677-31C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191898G>C | CA9263815 | NOTCH3 | c.680-31C>G (n.680-31C>G) c.677-31C>G (n.677-31C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191898G= | CA2324749898 | NOTCH3 | c.680-31C= (n.680-31C=) c.677-31C= (n.677-31C=) | |
19 | g.15191899C>A | CA2735786701 | NOTCH3 | c.680-32G>T (n.680-32G>T) c.677-32G>T (n.677-32G>T) | dbSNP |
19 | g.15191900C>A | CA2576658938 | NOTCH3 | c.680-33G>T (n.680-33G>T) c.677-33G>T (n.677-33G>T) | |
19 | g.15191900C= | CA2324749899 | NOTCH3 | c.680-33G= (n.680-33G=) c.677-33G= (n.677-33G=) | |
19 | g.15191900C>G | CA2735624615 | NOTCH3 | c.680-33G>C (n.680-33G>C) c.677-33G>C (n.677-33G>C) | dbSNP |
19 | g.15191900C>T | CA9263816 | NOTCH3 | c.680-33G>A (n.680-33G>A) c.677-33G>A (n.677-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191901G>A | CA9263817 | NOTCH3 | c.680-34C>T (n.680-34C>T) c.677-34C>T (n.677-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191901G>C | CA2583065585 | NOTCH3 | c.680-34C>G (n.680-34C>G) c.677-34C>G (n.677-34C>G) | gnomAD v4 |
19 | g.15191901G= | CA2324749900 | NOTCH3 | c.680-34C= (n.680-34C=) c.677-34C= (n.677-34C=) | |
19 | g.15191902G>A | CA2583065586 | NOTCH3 | c.680-35C>T (n.680-35C>T) c.677-35C>T (n.677-35C>T) | gnomAD v4 |
19 | g.15191903G>A | CA632128103 | NOTCH3 | c.680-36C>T (n.680-36C>T) c.677-36C>T (n.677-36C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191903G>C | CA2583065587 | NOTCH3 | c.680-36C>G (n.680-36C>G) c.677-36C>G (n.677-36C>G) | dbSNP gnomAD v4 |
19 | g.15191903G= | CA2324749901 | NOTCH3 | c.680-36C= (n.680-36C=) c.677-36C= (n.677-36C=) | |
19 | g.15191904C>A | CA9263818 | NOTCH3 | c.680-37G>T (n.680-37G>T) c.677-37G>T (n.677-37G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191904C= | CA2324749902 | NOTCH3 | c.680-37G= (n.680-37G=) c.677-37G= (n.677-37G=) | |
19 | g.15191906G>A | CA783621431 | NOTCH3 | c.680-39C>T (n.680-39C>T) c.677-39C>T (n.677-39C>T) | dbSNP gnomAD v4 |
19 | g.15191906G= | CA2324749903 | NOTCH3 | c.680-39C= (n.680-39C=) c.677-39C= (n.677-39C=) | |
19 | g.15191907G>A | CA2735786706 | NOTCH3 | c.680-40C>T (n.680-40C>T) c.677-40C>T (n.677-40C>T) | dbSNP |
19 | g.15191908C>A | CA632128104 | NOTCH3 | c.680-41G>T (n.680-41G>T) c.677-41G>T (n.677-41G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191908C= | CA2324749904 | NOTCH3 | c.680-41G= (n.680-41G=) c.677-41G= (n.677-41G=) | |
19 | g.15191908C>G | CA2735651737 | NOTCH3 | c.680-41G>C (n.680-41G>C) c.677-41G>C (n.677-41G>C) | dbSNP |
19 | g.15191908C>T | CA2583065590 | NOTCH3 | c.680-41G>A (n.680-41G>A) c.677-41G>A (n.677-41G>A) | dbSNP gnomAD v4 |
19 | g.15191911G>A | CA2735786718 | NOTCH3 | c.680-44C>T (n.680-44C>T) c.677-44C>T (n.677-44C>T) | dbSNP |
19 | g.15191912C>A | CA2735786729 | NOTCH3 | c.680-45G>T (n.680-45G>T) c.677-45G>T (n.677-45G>T) | dbSNP |
19 | g.15191912C>G | CA2735786731 | NOTCH3 | c.680-45G>C (n.680-45G>C) c.677-45G>C (n.677-45G>C) | dbSNP |
19 | g.15191912C>T | CA2735786760 | NOTCH3 | c.680-45G>A (n.680-45G>A) c.677-45G>A (n.677-45G>A) | dbSNP |
19 | g.15191914G>C | CA2735650902 | NOTCH3 | c.680-47C>G (n.680-47C>G) c.677-47C>G (n.677-47C>G) | dbSNP |
19 | g.15191914G= | CA2324749905 | NOTCH3 | c.680-47C= (n.680-47C=) c.677-47C= (n.677-47C=) | |
19 | g.15191914G>T | CA783621432 | NOTCH3 | c.680-47C>A (n.680-47C>A) c.677-47C>A (n.677-47C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191916C>A | CA2583065591 | NOTCH3 | c.679+44G>T (n.679+44G>T) c.676+44G>T (n.676+44G>T) | gnomAD v4 |
19 | g.15191918C= | CA2324749906 | NOTCH3 | c.679+42G= (n.679+42G=) c.676+42G= (n.676+42G=) | |
19 | g.15191918C>G | CA632128105 | NOTCH3 | c.679+42G>C (n.679+42G>C) c.676+42G>C (n.676+42G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191918C>T | CA632128106 | NOTCH3 | c.679+42G>A (n.679+42G>A) c.676+42G>A (n.676+42G>A) | dbSNP gnomAD v2 |
19 | g.15191920A>T | CA2735786762 | NOTCH3 | c.679+40T>A (n.679+40T>A) c.676+40T>A (n.676+40T>A) | dbSNP |
19 | g.15191921C>A | CA2583065593 | NOTCH3 | c.679+39G>T (n.679+39G>T) c.676+39G>T (n.676+39G>T) | gnomAD v4 |
19 | g.15191921C= | CA2324749907 | NOTCH3 | c.679+39G= (n.679+39G=) c.676+39G= (n.676+39G=) | |
19 | g.15191921C>T | CA9263819 | NOTCH3 | c.679+39G>A (n.679+39G>A) c.676+39G>A (n.676+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191922G>A | CA9263820 | NOTCH3 | c.679+38C>T (n.679+38C>T) c.676+38C>T (n.676+38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191922G>C | CA2735619898 | NOTCH3 | c.679+38C>G (n.679+38C>G) c.676+38C>G (n.676+38C>G) | dbSNP |
19 | g.15191922G= | CA2324749908 | NOTCH3 | c.679+38C= (n.679+38C=) c.676+38C= (n.676+38C=) | |
19 | g.15191922G>T | CA2583065595 | NOTCH3 | c.679+38C>A (n.679+38C>A) c.676+38C>A (n.676+38C>A) | gnomAD v4 |
19 | g.15191923C>A | CA2735635925 | NOTCH3 | c.679+37G>T (n.679+37G>T) c.676+37G>T (n.676+37G>T) | dbSNP |
19 | g.15191923C= | CA2324749909 | NOTCH3 | c.679+37G= (n.679+37G=) c.676+37G= (n.676+37G=) | |
19 | g.15191923C>T | CA632128107 | NOTCH3 | c.679+37G>A (n.679+37G>A) c.676+37G>A (n.676+37G>A) | dbSNP gnomAD v2 |
19 | g.15191924C>A | CA2324749911 | NOTCH3 | c.679+36G>T (n.679+36G>T) c.676+36G>T (n.676+36G>T) | dbSNP |
19 | g.15191924C= | CA2324749910 | NOTCH3 | c.679+36G= (n.679+36G=) c.676+36G= (n.676+36G=) | |
19 | g.15191924C>T | CA9263821 | NOTCH3 | c.679+36G>A (n.679+36G>A) c.676+36G>A (n.676+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191925C>A | CA2735786774 | NOTCH3 | c.679+35G>T (n.679+35G>T) c.676+35G>T (n.676+35G>T) | dbSNP |
19 | g.15191926A= | CA2324749912 | NOTCH3 | c.679+34T= (n.679+34T=) c.676+34T= (n.676+34T=) | |
19 | g.15191926A>C | CA2735623992 | NOTCH3 | c.679+34T>G (n.679+34T>G) c.676+34T>G (n.676+34T>G) | dbSNP |
19 | g.15191926A>G | CA9263823 | NOTCH3 | c.679+34T>C (n.679+34T>C) c.676+34T>C (n.676+34T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191926A>T | CA2583065597 | NOTCH3 | c.679+34T>A (n.679+34T>A) c.676+34T>A (n.676+34T>A) | gnomAD v4 |
19 | g.15191927C= | CA2324749913 | NOTCH3 | c.679+33G= (n.679+33G=) c.676+33G= (n.676+33G=) | |
19 | g.15191927C>T | CA657366705 | NOTCH3 | c.679+33G>A (n.679+33G>A) c.676+33G>A (n.676+33G>A) | dbSNP gnomAD v4 COSMIC |
19 | g.15191930dup | CA9263822 | NOTCH3 | c.679+33dup (n.679+33dup) c.676+33dup (n.676+33dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191928C>A | CA9263824 | NOTCH3 | c.679+32G>T (n.679+32G>T) c.676+32G>T (n.676+32G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191928C= | CA2324749914 | NOTCH3 | c.679+32G= (n.679+32G=) c.676+32G= (n.676+32G=) | |
19 | g.15191928C>G | CA2583065601 | NOTCH3 | c.679+32G>C (n.679+32G>C) c.676+32G>C (n.676+32G>C) | gnomAD v4 |
19 | g.15191929C= | CA2324749917 | NOTCH3 | c.679+31G= (n.679+31G=) c.676+31G= (n.676+31G=) | |
19 | g.15191929C>T | CA2324749916 | NOTCH3 | c.679+31G>A (n.679+31G>A) c.676+31G>A (n.676+31G>A) | dbSNP gnomAD v4 |
19 | g.15191929_15191931delinsCCT | CA2324749915 | NOTCH3 | c.679+29_679+31delinsAGG (n.679+29_679+31delinsAGG) c.676+29_676+31delinsAGG (n.676+29_676+31delinsAGG) | |
19 | g.15191930C>A | CA2583065602 | NOTCH3 | c.679+30G>T (n.679+30G>T) c.676+30G>T (n.676+30G>T) | gnomAD v4 |
19 | g.15191932_15191933del | CA9263825 | NOTCH3 | c.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 |
19 | g.15191930_15191931insCT | CA305777668 | NOTCH3 | c.679+29_679+30insAG (n.679+29_679+30insAG) c.676+29_676+30insAG (n.676+29_676+30insAG) | |
19 | g.15191931del | CA2583065603 | NOTCH3 | c.679+29del (n.679+29del) c.676+29del (n.676+29del) | gnomAD v4 |
19 | g.15191932C>A | CA2583065604 | NOTCH3 | c.679+28G>T (n.679+28G>T) c.676+28G>T (n.676+28G>T) | gnomAD v4 |
19 | g.15191932C= | CA2324749918 | NOTCH3 | c.679+28G= (n.679+28G=) c.676+28G= (n.676+28G=) | |
19 | g.15191932C>T | CA2324749919 | NOTCH3 | c.679+28G>A (n.679+28G>A) c.676+28G>A (n.676+28G>A) | dbSNP |
19 | g.15191933T>C | CA2583065606 | NOTCH3 | c.679+27A>G (n.679+27A>G) c.676+27A>G (n.676+27A>G) | gnomAD v4 |
19 | g.15191934G>C | CA2583065607 | NOTCH3 | c.679+26C>G (n.679+26C>G) c.676+26C>G (n.676+26C>G) | dbSNP gnomAD v4 |
19 | g.15191935A>G | CA2735786893 | NOTCH3 | c.679+25T>C (n.679+25T>C) c.676+25T>C (n.676+25T>C) | dbSNP |
19 | g.15191935A>T | CA2735786889 | NOTCH3 | c.679+25T>A (n.679+25T>A) c.676+25T>A (n.676+25T>A) | dbSNP |
19 | g.15191936C>A | CA2735623701 | NOTCH3 | c.679+24G>T (n.679+24G>T) c.676+24G>T (n.676+24G>T) | dbSNP |
19 | g.15191936C= | CA2324749920 | NOTCH3 | c.679+24G= (n.679+24G=) c.676+24G= (n.676+24G=) | |
19 | g.15191936C>T | CA9263826 | NOTCH3 | c.679+24G>A (n.679+24G>A) c.676+24G>A (n.676+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191937T>C | CA2735786894 | NOTCH3 | c.679+23A>G (n.679+23A>G) c.676+23A>G (n.676+23A>G) | dbSNP |
19 | g.15191940C>T | CA2583065608 | NOTCH3 | c.679+20G>A (n.679+20G>A) c.676+20G>A (n.676+20G>A) | gnomAD v4 |
19 | g.15191941C>A | CA2735786895 | NOTCH3 | c.679+19G>T (n.679+19G>T) c.676+19G>T (n.676+19G>T) | dbSNP |
19 | g.15191943G>A | CA2735786910 | NOTCH3 | c.679+17C>T (n.679+17C>T) c.676+17C>T (n.676+17C>T) | dbSNP |
19 | g.15191944A= | CA2324749921 | NOTCH3 | c.679+16T= (n.679+16T=) c.676+16T= (n.676+16T=) | |
19 | g.15191944A>G | CA9263827 | NOTCH3 | c.679+16T>C (n.679+16T>C) c.676+16T>C (n.676+16T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191944A>T | CA657366710 | NOTCH3 | c.679+16T>A (n.679+16T>A) c.676+16T>A (n.676+16T>A) | COSMIC COSMIC |
19 | g.15191945G>A | CA9263828 | NOTCH3 | c.679+15C>T (n.679+15C>T) c.676+15C>T (n.676+15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191945G>C | CA305777687 | NOTCH3 | c.679+15C>G (n.679+15C>G) c.676+15C>G (n.676+15C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191945G= | CA2324749922 | NOTCH3 | c.679+15C= (n.679+15C=) c.676+15C= (n.676+15C=) | |
19 | g.15191946T>A | CA2735786924 | NOTCH3 | c.679+14A>T (n.679+14A>T) c.676+14A>T (n.676+14A>T) | dbSNP |
19 | g.15191946T>C | CA2583065612 | NOTCH3 | c.679+14A>G (n.679+14A>G) c.676+14A>G (n.676+14A>G) | gnomAD v4 |
19 | g.15191946T>G | CA2583065613 | NOTCH3 | c.679+14A>C (n.679+14A>C) c.676+14A>C (n.676+14A>C) | gnomAD v4 |
19 | g.15191949G>A | CA2813728457 | NOTCH3 | c.679+11C>T (n.679+11C>T) c.676+11C>T (n.676+11C>T) | |
19 | g.15191949G>C | CA2735786981 | NOTCH3 | c.679+11C>G (n.679+11C>G) c.676+11C>G (n.676+11C>G) | dbSNP |
19 | g.15191950G>A | CA632128108 | NOTCH3 | c.679+10C>T (n.679+10C>T) c.676+10C>T (n.676+10C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191950G>C | CA305777693 | NOTCH3 | c.679+10C>G (n.679+10C>G) c.676+10C>G (n.676+10C>G) | ClinVar dbSNP gnomAD v4 |
19 | g.15191950G= | CA2324749923 | NOTCH3 | c.679+10C= (n.679+10C=) c.676+10C= (n.676+10C=) | |
19 | g.15191952T>A | CA2735787066 | NOTCH3 | c.679+8A>T (n.679+8A>T) c.676+8A>T (n.676+8A>T) | dbSNP |
19 | g.15191955C>G | CA2735787068 | NOTCH3 | c.679+5G>C (n.679+5G>C) c.676+5G>C (n.676+5G>C) | dbSNP |
19 | g.15191957C>A | CA9263829 | NOTCH3 | c.679+3G>T (n.679+3G>T) c.676+3G>T (n.676+3G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191957C= | CA2324749924 | NOTCH3 | c.679+3G= (n.679+3G=) c.676+3G= (n.676+3G=) | |
19 | g.15191957C>G | CA993898975 | NOTCH3 | c.679+3G>C (n.679+3G>C) c.676+3G>C (n.676+3G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191958A>C | CA404533005 | NOTCH3 | c.679+2T>G (n.679+2T>G) c.676+2T>G (n.676+2T>G) | |
19 | g.15191958A>G | CA404533006 | NOTCH3 | c.679+2T>C (n.679+2T>C) c.676+2T>C (n.676+2T>C) | |
19 | g.15191958A>T | CA404533008 | NOTCH3 | c.679+2T>A (n.679+2T>A) c.676+2T>A (n.676+2T>A) | |
19 | g.15191959C>A | CA404533011 | NOTCH3 | c.679+1G>T (n.679+1G>T) c.676+1G>T (n.676+1G>T) | dbSNP |
19 | g.15191959C>G | CA404533012 | NOTCH3 | c.679+1G>C (n.679+1G>C) c.676+1G>C (n.676+1G>C) | |
19 | g.15191959C>T | CA404533013 | NOTCH3 | c.679+1G>A (n.679+1G>A) c.676+1G>A (n.676+1G>A) | COSMIC COSMIC |
19 | g.15191960C>A | CA404533018 | NOTCH3 | c.679G>T (p.Gly227Trp) c.676G>T (p.Gly226Trp) | dbSNP |
19 | g.15191960C= | CA2324749925 | NOTCH3 | c.679G= (p.Gly227=) c.676G= (p.Gly226=) | |
19 | g.15191960C>G | CA404533016 | NOTCH3 | c.679G>C (p.Gly227Arg) c.676G>C (p.Gly226Arg) | gnomAD v4 |
19 | g.15191960C>T | CA404533014 | NOTCH3 | c.679G>A (p.Gly227Arg) c.676G>A (p.Gly226Arg) | |
19 | g.15191961A= | CA2324749926 | NOTCH3 | c.678T= (p.Pro226=) c.675T= (p.Pro225=) | |
19 | g.15191961A>C | CA506078609 | NOTCH3 | c.678T>G (p.Pro226=) c.675T>G (p.Pro225=) | |
19 | g.15191961A>G | CA9263830 | NOTCH3 | c.678T>C (p.Pro226=) c.675T>C (p.Pro225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191961A>T | CA506078610 | NOTCH3 | c.678T>A (p.Pro226=) c.675T>A (p.Pro225=) | |
19 | g.15191962G>A | CA404533021 | NOTCH3 | c.677C>T (p.Pro226Leu) c.674C>T (p.Pro225Leu) | gnomAD v4 |
19 | g.15191962G>C | CA404533022 | NOTCH3 | c.677C>G (p.Pro226Arg) c.674C>G (p.Pro225Arg) | |
19 | g.15191962G>T | CA404533023 | NOTCH3 | c.677C>A (p.Pro226His) c.674C>A (p.Pro225His) | |
19 | g.15191963G>A | CA404533026 | NOTCH3 | c.676C>T (p.Pro226Ser) c.673C>T (p.Pro225Ser) | dbSNP COSMIC COSMIC |
19 | g.15191963G>C | CA404533035 | NOTCH3 | c.676C>G (p.Pro226Ala) c.673C>G (p.Pro225Ala) | |
19 | g.15191963G>T | CA404533037 | NOTCH3 | c.676C>A (p.Pro226Thr) c.673C>A (p.Pro225Thr) | |
19 | g.15191964A>C | CA506078611 | NOTCH3 | c.675T>G (p.Leu225=) c.672T>G (p.Leu224=) | |
19 | g.15191964A>G | CA506078612 | NOTCH3 | c.675T>C (p.Leu225=) c.672T>C (p.Leu224=) | |
19 | g.15191964A>T | CA506078613 | NOTCH3 | c.675T>A (p.Leu225=) c.672T>A (p.Leu224=) | |
19 | g.15191965A= | CA2324749927 | NOTCH3 | c.674T= (p.Leu225=) c.671T= (p.Leu224=) | |
19 | g.15191965A>C | CA9263831 | NOTCH3 | c.674T>G (p.Leu225Arg) c.671T>G (p.Leu224Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191965A>G | CA404533040 | NOTCH3 | c.674T>C (p.Leu225Pro) c.671T>C (p.Leu224Pro) | |
19 | g.15191965A>T | CA404533042 | NOTCH3 | c.674T>A (p.Leu225His) c.671T>A (p.Leu224His) | |
19 | g.15191966G>A | CA404533046 | NOTCH3 | c.673C>T (p.Leu225Phe) c.670C>T (p.Leu224Phe) | |
19 | g.15191966G>C | CA404533048 | NOTCH3 | c.673C>G (p.Leu225Val) c.670C>G (p.Leu224Val) | |
19 | g.15191966G>T | CA404533050 | NOTCH3 | c.673C>A (p.Leu225Ile) c.670C>A (p.Leu224Ile) | |
19 | g.15191967A>C | CA404533052 | NOTCH3 | c.672T>G (p.Cys224Trp) c.669T>G (p.Cys223Trp) | dbSNP |
19 | g.15191967A>G | CA506078614 | NOTCH3 | c.672T>C (p.Cys224=) c.669T>C (p.Cys223=) | |
19 | g.15191967A>T | CA404533053 | NOTCH3 | c.672T>A (p.Cys224Ter) c.669T>A (p.Cys223Ter) | |
19 | g.15191968C>A | CA404533056 | NOTCH3 | c.671G>T (p.Cys224Phe) c.668G>T (p.Cys223Phe) | |
19 | g.15191968C= | CA2324749928 | NOTCH3 | c.671G= (p.Cys224=) c.668G= (p.Cys223=) | |
19 | g.15191968C>G | CA404533061 | NOTCH3 | c.671G>C (p.Cys224Ser) c.668G>C (p.Cys223Ser) | dbSNP |
19 | g.15191968C>T | CA404533058 | NOTCH3 | c.671G>A (p.Cys224Tyr) c.668G>A (p.Cys223Tyr) | ClinVar dbSNP |
19 | g.15191969A>C | CA404533063 | NOTCH3 | c.670T>G (p.Cys224Gly) c.667T>G (p.Cys223Gly) | |
19 | g.15191969A>G | CA404533065 | NOTCH3 | c.670T>C (p.Cys224Arg) c.667T>C (p.Cys223Arg) | dbSNP |
19 | g.15191969A>T | CA404533066 | NOTCH3 | c.670T>A (p.Cys224Ser) c.667T>A (p.Cys223Ser) | |
19 | g.15191970G>A | CA506078616 | NOTCH3 | c.669C>T (p.Ala223=) c.666C>T (p.Ala222=) | gnomAD v4 |
19 | g.15191970G>C | CA9263832 | NOTCH3 | c.669C>G (p.Ala223=) c.666C>G (p.Ala222=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191970G= | CA2324749929 | NOTCH3 | c.669C= (p.Ala223=) c.666C= (p.Ala222=) | |
19 | g.15191970G>T | CA506078615 | NOTCH3 | c.669C>A (p.Ala223=) c.666C>A (p.Ala222=) | |
19 | g.15191971G>A | CA9263833 | NOTCH3 | c.668C>T (p.Ala223Val) c.665C>T (p.Ala222Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191971G>C | CA404533070 | NOTCH3 | c.668C>G (p.Ala223Gly) c.665C>G (p.Ala222Gly) | |
19 | g.15191971G= | CA2324749930 | NOTCH3 | c.668C= (p.Ala223=) c.665C= (p.Ala222=) | |
19 | g.15191971G>T | CA404533072 | NOTCH3 | c.668C>A (p.Ala223Asp) c.665C>A (p.Ala222Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191972C>A | CA404533074 | NOTCH3 | c.667G>T (p.Ala223Ser) c.664G>T (p.Ala222Ser) | |
19 | g.15191972C>G | CA404533077 | NOTCH3 | c.667G>C (p.Ala223Pro) c.664G>C (p.Ala222Pro) | |
19 | g.15191972C>T | CA404533078 | NOTCH3 | c.667G>A (p.Ala223Thr) c.664G>A (p.Ala222Thr) | |
19 | g.15191974_15191975del | CA2813728458 | NOTCH3 | c.666_667del (p.Ala223LeufsTer6) c.663_664del (p.Ala222LeufsTer6) | |
19 | g.15191973A>C | CA404533080 | NOTCH3 | c.666T>G (p.Cys222Trp) c.663T>G (p.Cys221Trp) | dbSNP |
19 | g.15191973A>G | CA506078618 | NOTCH3 | c.666T>C (p.Cys222=) c.663T>C (p.Cys221=) | |
19 | g.15191973A>T | CA404533081 | NOTCH3 | c.666T>A (p.Cys222Ter) c.663T>A (p.Cys221Ter) | dbSNP |
19 | g.15191974C>A | CA404533084 | NOTCH3 | c.665G>T (p.Cys222Phe) c.662G>T (p.Cys221Phe) | |
19 | g.15191974C= | CA2324749931 | NOTCH3 | c.665G= (p.Cys222=) c.662G= (p.Cys221=) | |
19 | g.15191974C>G | CA404533083 | NOTCH3 | c.665G>C (p.Cys222Ser) c.662G>C (p.Cys221Ser) | ClinVar |
19 | g.15191974C>T | CA404533082 | NOTCH3 | c.665G>A (p.Cys222Tyr) c.662G>A (p.Cys221Tyr) | ClinVar dbSNP |
19 | g.15191975A>C | CA404533086 | NOTCH3 | c.664T>G (p.Cys222Gly) c.661T>G (p.Cys221Gly) | |
19 | g.15191975A>G | CA404533087 | NOTCH3 | c.664T>C (p.Cys222Arg) c.661T>C (p.Cys221Arg) | ClinVar |
19 | g.15191975A>T | CA404533093 | NOTCH3 | c.664T>A (p.Cys222Ser) c.661T>A (p.Cys221Ser) | |
19 | g.15191976G>A | CA506078620 | NOTCH3 | c.663C>T (p.Asp221=) c.660C>T (p.Asp220=) | gnomAD v4 |
19 | g.15191976G>C | CA404533095 | NOTCH3 | c.663C>G (p.Asp221Glu) c.660C>G (p.Asp220Glu) | |
19 | g.15191976G>T | CA404533097 | NOTCH3 | c.663C>A (p.Asp221Glu) c.660C>A (p.Asp220Glu) | |
19 | g.15191977T>A | CA404533101 | NOTCH3 | c.662A>T (p.Asp221Val) c.659A>T (p.Asp220Val) | |
19 | g.15191977T>C | CA404533099 | NOTCH3 | c.662A>G (p.Asp221Gly) c.659A>G (p.Asp220Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191977T>G | CA404533098 | NOTCH3 | c.662A>C (p.Asp221Ala) c.659A>C (p.Asp220Ala) | |
19 | g.15191977T= | CA2324749932 | NOTCH3 | c.662A= (p.Asp221=) c.659A= (p.Asp220=) | |
19 | g.15191978C>A | CA305777732 | NOTCH3 | c.661G>T (p.Asp221Tyr) c.658G>T (p.Asp220Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191978C= | CA2324749933 | NOTCH3 | c.661G= (p.Asp221=) c.658G= (p.Asp220=) | |
19 | g.15191978C>G | CA404533105 | NOTCH3 | c.661G>C (p.Asp221His) c.658G>C (p.Asp220His) | dbSNP |
19 | g.15191978C>T | CA9263834 | NOTCH3 | c.661G>A (p.Asp221Asn) c.658G>A (p.Asp220Asn) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
19 | g.15191978_15191982delinsCGTAA | CA2324749934 | NOTCH3 | c.657_661delinsTTACG (p.Thr219=) c.654_658delinsTTACG (p.Thr218=) | |
19 | g.15191979G>A | CA9263835 | NOTCH3 | c.660C>T (p.Tyr220=) c.657C>T (p.Tyr219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15191979G>C | CA404533109 | NOTCH3 | c.660C>G (p.Tyr220Ter) c.657C>G (p.Tyr219Ter) | dbSNP |
19 | g.15191979G= | CA2324749935 | NOTCH3 | c.660C= (p.Tyr220=) c.657C= (p.Tyr219=) | |
19 | g.15191979G>T | CA404533111 | NOTCH3 | c.660C>A (p.Tyr220Ter) c.657C>A (p.Tyr219Ter) | |
19 | g.15191981_15191984del | CA783621433 | NOTCH3 | c.657_660del (p.Tyr220ThrfsTer15) c.654_657del (p.Tyr219ThrfsTer15) | dbSNP |
19 | g.15191980T>A | CA404533114 | NOTCH3 | c.659A>T (p.Tyr220Phe) c.656A>T (p.Tyr219Phe) | dbSNP |
19 | g.15191980T>C | CA404533118 | NOTCH3 | c.659A>G (p.Tyr220Cys) c.656A>G (p.Tyr219Cys) | |
19 | g.15191980T>G | CA404533116 | NOTCH3 | c.659A>C (p.Tyr220Ser) c.656A>C (p.Tyr219Ser) | |
19 | g.15191980dup | CA9263836 | NOTCH3 | c.659dup (p.Tyr220Ter) c.656dup (p.Tyr219Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191981A>C | CA404533120 | NOTCH3 | c.658T>G (p.Tyr220Asp) c.655T>G (p.Tyr219Asp) | |
19 | g.15191981A>G | CA404533122 | NOTCH3 | c.658T>C (p.Tyr220His) c.655T>C (p.Tyr219His) | |
19 | g.15191981A>T | CA404533124 | NOTCH3 | c.658T>A (p.Tyr220Asn) c.655T>A (p.Tyr219Asn) | |
19 | g.15191982A>C | CA506078624 | NOTCH3 | c.657T>G (p.Thr219=) c.654T>G (p.Thr218=) | |
19 | g.15191982A>G | CA506078625 | NOTCH3 | c.657T>C (p.Thr219=) c.654T>C (p.Thr218=) | |
19 | g.15191982A>T | CA506078626 | NOTCH3 | c.657T>A (p.Thr219=) c.654T>A (p.Thr218=) | |
19 | g.15191983G>A | CA404533126 | NOTCH3 | c.656C>T (p.Thr219Ile) c.653C>T (p.Thr218Ile) | |
19 | g.15191983G>C | CA404533128 | NOTCH3 | c.656C>G (p.Thr219Ser) c.653C>G (p.Thr218Ser) | |
19 | g.15191983G>T | CA404533130 | NOTCH3 | c.656C>A (p.Thr219Asn) c.653C>A (p.Thr218Asn) | |
19 | g.15191984T>A | CA404533133 | NOTCH3 | c.655A>T (p.Thr219Ser) c.652A>T (p.Thr218Ser) | |
19 | g.15191984T>C | CA404533136 | NOTCH3 | c.655A>G (p.Thr219Ala) c.652A>G (p.Thr218Ala) | |
19 | g.15191984T>G | CA404533137 | NOTCH3 | c.655A>C (p.Thr219Pro) c.652A>C (p.Thr218Pro) | |
19 | g.15191985G>A | CA506078627 | NOTCH3 | c.654C>T (p.Leu218=) c.651C>T (p.Leu217=) | dbSNP |
19 | g.15191985G>C | CA506078629 | NOTCH3 | c.654C>G (p.Leu218=) c.651C>G (p.Leu217=) | |
19 | g.15191985G= | CA2324749936 | NOTCH3 | c.654C= (p.Leu218=) c.651C= (p.Leu217=) | |
19 | g.15191985G>T | CA506078631 | NOTCH3 | c.654C>A (p.Leu218=) c.651C>A (p.Leu217=) | |
19 | g.15191986A>C | CA404533138 | NOTCH3 | c.653T>G (p.Leu218Arg) c.650T>G (p.Leu217Arg) | |
19 | g.15191986A>G | CA404533139 | NOTCH3 | c.653T>C (p.Leu218Pro) c.650T>C (p.Leu217Pro) | |
19 | g.15191986A>T | CA404533140 | NOTCH3 | c.653T>A (p.Leu218His) c.650T>A (p.Leu217His) | dbSNP |
19 | g.15191987G>A | CA404533146 | NOTCH3 | c.652C>T (p.Leu218Phe) c.649C>T (p.Leu217Phe) | |
19 | g.15191987G>C | CA404533142 | NOTCH3 | c.652C>G (p.Leu218Val) c.649C>G (p.Leu217Val) | |
19 | g.15191987G= | CA2324749937 | NOTCH3 | c.652C= (p.Leu218=) c.649C= (p.Leu217=) | |
19 | g.15191987G>T | CA404533144 | NOTCH3 | c.652C>A (p.Leu218Ile) c.649C>A (p.Leu217Ile) | dbSNP gnomAD v2 gnomAD v4 |