Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
19 | g.15191988G>A | CA506078632 | NOTCH3 | c.651C>T (p.Asp217=) c.648C>T (p.Asp216=) | dbSNP |
19 | g.15191988G>C | CA404533147 | NOTCH3 | c.651C>G (p.Asp217Glu) c.648C>G (p.Asp216Glu) | dbSNP |
19 | g.15191988G>T | CA404533148 | NOTCH3 | c.651C>A (p.Asp217Glu) c.648C>A (p.Asp216Glu) | |
19 | g.15191989T>A | CA404533150 | NOTCH3 | c.650A>T (p.Asp217Val) c.647A>T (p.Asp216Val) | dbSNP |
19 | g.15191989T>C | CA9263837 | NOTCH3 | c.650A>G (p.Asp217Gly) c.647A>G (p.Asp216Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191989T>G | CA404533152 | NOTCH3 | c.650A>C (p.Asp217Ala) c.647A>C (p.Asp216Ala) | |
19 | g.15191989T= | CA2324749938 | NOTCH3 | c.650A= (p.Asp217=) c.647A= (p.Asp216=) | |
19 | g.15191990C>A | CA404533154 | NOTCH3 | c.649G>T (p.Asp217Tyr) c.646G>T (p.Asp216Tyr) | dbSNP gnomAD v4 |
19 | g.15191990C= | CA2324749939 | NOTCH3 | c.649G= (p.Asp217=) c.646G= (p.Asp216=) | |
19 | g.15191990C>G | CA404533155 | NOTCH3 | c.649G>C (p.Asp217His) c.646G>C (p.Asp216His) | |
19 | g.15191990C>T | CA9263838 | NOTCH3 | c.649G>A (p.Asp217Asn) c.646G>A (p.Asp216Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15191991G>A | CA9263839 | NOTCH3 | c.648C>T (p.Gly216=) c.645C>T (p.Gly215=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191991G>C | CA506078635 | NOTCH3 | c.648C>G (p.Gly216=) c.645C>G (p.Gly215=) | |
19 | g.15191991G= | CA2324749940 | NOTCH3 | c.648C= (p.Gly216=) c.645C= (p.Gly215=) | |
19 | g.15191991G>T | CA506078637 | NOTCH3 | c.648C>A (p.Gly216=) c.645C>A (p.Gly215=) | |
19 | g.15191992C>A | CA404533159 | NOTCH3 | c.647G>T (p.Gly216Val) c.644G>T (p.Gly215Val) | |
19 | g.15191992C>G | CA404533160 | NOTCH3 | c.647G>C (p.Gly216Ala) c.644G>C (p.Gly215Ala) | |
19 | g.15191992C>T | CA404533162 | NOTCH3 | c.647G>A (p.Gly216Asp) c.644G>A (p.Gly215Asp) | |
19 | g.15191993C>A | CA404533166 | NOTCH3 | c.646G>T (p.Gly216Cys) c.643G>T (p.Gly215Cys) | |
19 | g.15191993C>G | CA404533165 | NOTCH3 | c.646G>C (p.Gly216Arg) c.643G>C (p.Gly215Arg) | |
19 | g.15191993C>T | CA404533163 | NOTCH3 | c.646G>A (p.Gly216Ser) c.643G>A (p.Gly215Ser) | gnomAD v4 |
19 | g.15191994A>C | CA404533167 | NOTCH3 | c.645T>G (p.Ser215Arg) c.642T>G (p.Ser214Arg) | dbSNP |
19 | g.15191994A>G | CA506078639 | NOTCH3 | c.645T>C (p.Ser215=) c.642T>C (p.Ser214=) | |
19 | g.15191994A>T | CA404533169 | NOTCH3 | c.645T>A (p.Ser215Arg) c.642T>A (p.Ser214Arg) | |
19 | g.15191995C>A | CA404533170 | NOTCH3 | c.644G>T (p.Ser215Ile) c.641G>T (p.Ser214Ile) | |
19 | g.15191995C>G | CA404533172 | NOTCH3 | c.644G>C (p.Ser215Thr) c.641G>C (p.Ser214Thr) | |
19 | g.15191995C>T | CA404533174 | NOTCH3 | c.644G>A (p.Ser215Asn) c.641G>A (p.Ser214Asn) | |
19 | g.15191996T>A | CA404533175 | NOTCH3 | c.643A>T (p.Ser215Cys) c.640A>T (p.Ser214Cys) | |
19 | g.15191996T>C | CA404533176 | NOTCH3 | c.643A>G (p.Ser215Gly) c.640A>G (p.Ser214Gly) | |
19 | g.15191996T>G | CA404533178 | NOTCH3 | c.643A>C (p.Ser215Arg) c.640A>C (p.Ser214Arg) | |
19 | g.15191997C>A | CA404533179 | NOTCH3 | c.642G>T (p.Gln214His) c.639G>T (p.Gln213His) | COSMIC COSMIC |
19 | g.15191997C= | CA2324749941 | NOTCH3 | c.642G= (p.Gln214=) c.639G= (p.Gln213=) | |
19 | g.15191997C>G | CA404533180 | NOTCH3 | c.642G>C (p.Gln214His) c.639G>C (p.Gln213His) | |
19 | g.15191997C>T | CA506078641 | NOTCH3 | c.642G>A (p.Gln214=) c.639G>A (p.Gln213=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191998T>A | CA404533182 | NOTCH3 | c.641A>T (p.Gln214Leu) c.638A>T (p.Gln213Leu) | |
19 | g.15191998T>C | CA404533183 | NOTCH3 | c.641A>G (p.Gln214Arg) c.638A>G (p.Gln213Arg) | dbSNP |
19 | g.15191998T>G | CA404533184 | NOTCH3 | c.641A>C (p.Gln214Pro) c.638A>C (p.Gln213Pro) | gnomAD v4 |
19 | g.15191998T= | CA2324749942 | NOTCH3 | c.641A= (p.Gln214=) c.638A= (p.Gln213=) | |
19 | g.15191999G>A | CA404533187 | NOTCH3 | c.640C>T (p.Gln214Ter) c.637C>T (p.Gln213Ter) | dbSNP |
19 | g.15191999G>C | CA404533188 | NOTCH3 | c.640C>G (p.Gln214Glu) c.637C>G (p.Gln213Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191999G= | CA2324749943 | NOTCH3 | c.640C= (p.Gln214=) c.637C= (p.Gln213=) | |
19 | g.15191999G>T | CA404533185 | NOTCH3 | c.640C>A (p.Gln214Lys) c.637C>A (p.Gln213Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15192000C>A | CA404533190 | NOTCH3 | c.639G>T (p.Arg213Ser) c.636G>T (p.Arg212Ser) | |
19 | g.15192000C= | CA2324749944 | NOTCH3 | c.639G= (p.Arg213=) c.636G= (p.Arg212=) | |
19 | g.15192000C>G | CA404533192 | NOTCH3 | c.639G>C (p.Arg213Ser) c.636G>C (p.Arg212Ser) | |
19 | g.15192000C>T | CA9263840 | NOTCH3 | c.639G>A (p.Arg213=) c.636G>A (p.Arg212=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192001C>A | CA404533193 | NOTCH3 | c.638G>T (p.Arg213Met) c.635G>T (p.Arg212Met) | |
19 | g.15192001C>G | CA404533195 | NOTCH3 | c.638G>C (p.Arg213Thr) c.635G>C (p.Arg212Thr) | |
19 | g.15192001C>T | CA404533196 | NOTCH3 | c.638G>A (p.Arg213Lys) c.635G>A (p.Arg212Lys) | |
19 | g.15192002T>A | CA404533198 | NOTCH3 | c.637A>T (p.Arg213Trp) c.634A>T (p.Arg212Trp) | |
19 | g.15192002T>C | CA404533200 | NOTCH3 | c.637A>G (p.Arg213Gly) c.634A>G (p.Arg212Gly) | gnomAD v4 |
19 | g.15192002T>G | CA506078643 | NOTCH3 | c.637A>C (p.Arg213=) c.634A>C (p.Arg212=) | dbSNP gnomAD v4 |
19 | g.15192002T= | CA2324749945 | NOTCH3 | c.637A= (p.Arg213=) c.634A= (p.Arg212=) | |
19 | g.15192003G>A | CA9263841 | NOTCH3 | c.636C>T (p.Cys212=) c.633C>T (p.Cys211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192003G>C | CA404533208 | NOTCH3 | c.636C>G (p.Cys212Trp) c.633C>G (p.Cys211Trp) | |
19 | g.15192003G= | CA2324749946 | NOTCH3 | c.636C= (p.Cys212=) c.633C= (p.Cys211=) | |
19 | g.15192003G>T | CA404533211 | NOTCH3 | c.636C>A (p.Cys212Ter) c.633C>A (p.Cys211Ter) | |
19 | g.15192004C>A | CA404533214 | NOTCH3 | c.635G>T (p.Cys212Phe) c.632G>T (p.Cys211Phe) | |
19 | g.15192004C= | CA2324749947 | NOTCH3 | c.635G= (p.Cys212=) c.632G= (p.Cys211=) | |
19 | g.15192004C>G | CA404533217 | NOTCH3 | c.635G>C (p.Cys212Ser) c.632G>C (p.Cys211Ser) | |
19 | g.15192004C>T | CA9263842 | NOTCH3 | c.635G>A (p.Cys212Tyr) c.632G>A (p.Cys211Tyr) | dbSNP ExAC gnomAD v2 |
19 | g.15192005A= | CA2324749948 | NOTCH3 | c.634T= (p.Cys212=) c.631T= (p.Cys211=) | |
19 | g.15192005A>C | CA404533222 | NOTCH3 | c.634T>G (p.Cys212Gly) c.631T>G (p.Cys211Gly) | ClinVar |
19 | g.15192005A>G | CA404533223 | NOTCH3 | c.634T>C (p.Cys212Arg) c.631T>C (p.Cys211Arg) | ClinVar dbSNP |
19 | g.15192005A>T | CA404533226 | NOTCH3 | c.634T>A (p.Cys212Ser) c.631T>A (p.Cys211Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.15192006G>A | CA9263843 | NOTCH3 | c.633C>T (p.Thr211=) c.630C>T (p.Thr210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192006G>C | CA506078648 | NOTCH3 | c.633C>G (p.Thr211=) c.630C>G (p.Thr210=) | |
19 | g.15192006G= | CA2324749949 | NOTCH3 | c.633C= (p.Thr211=) c.630C= (p.Thr210=) | |
19 | g.15192006G>T | CA506078646 | NOTCH3 | c.633C>A (p.Thr211=) c.630C>A (p.Thr210=) |