SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15192033_15192127delinsTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCAC | CA2324749964 | NOTCH3 | c.512_606delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly171=) c.509_603delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly170=) | |
| 19 | g.15192034_15192127delinsT | CA1139666341 | NOTCH3 | c.512_605delinsA (p.Gly171_Ala202delinsGlu) c.509_602delinsA (p.Gly170_Ala201delinsGlu) | ClinVar dbSNP |
| 19 | g.15192121G>A | CA404533746 | NOTCH3 | c.518C>T (p.Thr173Ile) c.515C>T (p.Thr172Ile) | dbSNP gnomAD v4 |
| 19 | g.15192121G>C | CA404533747 | NOTCH3 | c.518C>G (p.Thr173Ser) c.515C>G (p.Thr172Ser) | dbSNP |
| 19 | g.15192121G= | CA2324750001 | NOTCH3 | c.518C= (p.Thr173=) c.515C= (p.Thr172=) | |
| 19 | g.15192121G>T | CA404533752 | NOTCH3 | c.518C>A (p.Thr173Asn) c.515C>A (p.Thr172Asn) | |
| 19 | g.15192122T>A | CA404533755 | NOTCH3 | c.517A>T (p.Thr173Ser) c.514A>T (p.Thr172Ser) | gnomAD v4 |
| 19 | g.15192122T>C | CA404533758 | NOTCH3 | c.517A>G (p.Thr173Ala) c.514A>G (p.Thr172Ala) | |
| 19 | g.15192122T>G | CA305777922 | NOTCH3 | c.517A>C (p.Thr173Pro) c.514A>C (p.Thr172Pro) | dbSNP gnomAD v4 |
| 19 | g.15192122T= | CA2324750002 | NOTCH3 | c.517A= (p.Thr173=) c.514A= (p.Thr172=) | |
| 19 | g.15192123G>A | CA506078814 | NOTCH3 | c.516C>T (p.Gly172=) c.513C>T (p.Gly171=) | dbSNP gnomAD v4 |
| 19 | g.15192123G>C | CA506078815 | NOTCH3 | c.516C>G (p.Gly172=) c.513C>G (p.Gly171=) | dbSNP |
| 19 | g.15192123G>T | CA506078817 | NOTCH3 | c.516C>A (p.Gly172=) c.513C>A (p.Gly171=) | |
| 19 | g.15192124C>A | CA404533769 | NOTCH3 | c.515G>T (p.Gly172Val) c.512G>T (p.Gly171Val) | |
| 19 | g.15192124C= | CA2324750003 | NOTCH3 | c.515G= (p.Gly172=) c.512G= (p.Gly171=) | |
| 19 | g.15192124C>G | CA404533771 | NOTCH3 | c.515G>C (p.Gly172Ala) c.512G>C (p.Gly171Ala) | dbSNP |
| 19 | g.15192124C>T | CA9263865 | NOTCH3 | c.515G>A (p.Gly172Asp) c.512G>A (p.Gly171Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192125C>A | CA404533774 | NOTCH3 | c.514G>T (p.Gly172Cys) c.511G>T (p.Gly171Cys) | |
| 19 | g.15192125C>G | CA404533776 | NOTCH3 | c.514G>C (p.Gly172Arg) c.511G>C (p.Gly171Arg) | |
| 19 | g.15192125C>T | CA404533778 | NOTCH3 | c.514G>A (p.Gly172Ser) c.511G>A (p.Gly171Ser) | gnomAD v4 |
| 19 | g.15192126A= | CA2324750004 | NOTCH3 | c.513T= (p.Gly171=) c.510T= (p.Gly170=) | |
| 19 | g.15192126A>C | CA506078820 | NOTCH3 | c.513T>G (p.Gly171=) c.510T>G (p.Gly170=) | dbSNP |
| 19 | g.15192126A>G | CA506078821 | NOTCH3 | c.513T>C (p.Gly171=) c.510T>C (p.Gly170=) | |
| 19 | g.15192126A>T | CA506078822 | NOTCH3 | c.513T>A (p.Gly171=) c.510T>A (p.Gly170=) | |
| 19 | g.15192127C>A | CA404533780 | NOTCH3 | c.512G>T (p.Gly171Val) c.509G>T (p.Gly170Val) | dbSNP |
| 19 | g.15192127C>G | CA404533783 | NOTCH3 | c.512G>C (p.Gly171Ala) c.509G>C (p.Gly170Ala) | |
| 19 | g.15192127C>T | CA404533784 | NOTCH3 | c.512G>A (p.Gly171Asp) c.509G>A (p.Gly170Asp) | gnomAD v4 |
| 19 | g.15192128C>A | CA404533787 | NOTCH3 | c.511G>T (p.Gly171Cys) c.508G>T (p.Gly170Cys) | dbSNP |
| 19 | g.15192128C= | CA2324750005 | NOTCH3 | c.511G= (p.Gly171=) c.508G= (p.Gly170=) | |
| 19 | g.15192128C>G | CA9263866 | NOTCH3 | c.511G>C (p.Gly171Arg) c.508G>C (p.Gly170Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192128C>T | CA404533785 | NOTCH3 | c.511G>A (p.Gly171Ser) c.508G>A (p.Gly170Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192129A>C | CA404533791 | NOTCH3 | c.510T>G (p.His170Gln) c.507T>G (p.His169Gln) | dbSNP |
| 19 | g.15192129A>G | CA506078825 | NOTCH3 | c.510T>C (p.His170=) c.507T>C (p.His169=) | dbSNP |
| 19 | g.15192129A>T | CA404533793 | NOTCH3 | c.510T>A (p.His170Gln) c.507T>A (p.His169Gln) | |
| 19 | g.15192130T>A | CA404533794 | NOTCH3 | c.509A>T (p.His170Leu) c.506A>T (p.His169Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192130T>C | CA9263867 | NOTCH3 | c.509A>G (p.His170Arg) c.506A>G (p.His169Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192130T>G | CA404533798 | NOTCH3 | c.509A>C (p.His170Pro) c.506A>C (p.His169Pro) | |
| 19 | g.15192130T= | CA2324750006 | NOTCH3 | c.509A= (p.His170=) c.506A= (p.His169=) | |
| 19 | g.15192131G>A | CA404533800 | NOTCH3 | c.508C>T (p.His170Tyr) c.505C>T (p.His169Tyr) | gnomAD v4 |
| 19 | g.15192131G>C | CA404533803 | NOTCH3 | c.508C>G (p.His170Asp) c.505C>G (p.His169Asp) | dbSNP |
| 19 | g.15192131G>T | CA404533801 | NOTCH3 | c.508C>A (p.His170Asn) c.505C>A (p.His169Asn) | gnomAD v4 |
| 19 | g.15192132G>A | CA506078829 | NOTCH3 | c.507C>T (p.Arg169=) c.504C>T (p.Arg168=) | dbSNP |
| 19 | g.15192132G>C | CA506078831 | NOTCH3 | c.507C>G (p.Arg169=) c.504C>G (p.Arg168=) | dbSNP |
| 19 | g.15192132G>T | CA506078833 | NOTCH3 | c.507C>A (p.Arg169=) c.504C>A (p.Arg168=) | |
| 19 | g.15192133C>A | CA404533804 | NOTCH3 | c.506G>T (p.Arg169Leu) c.503G>T (p.Arg168Leu) | gnomAD v4 |
| 19 | g.15192133C= | CA2324750007 | NOTCH3 | c.506G= (p.Arg169=) c.503G= (p.Arg168=) | |
| 19 | g.15192133C>G | CA404533805 | NOTCH3 | c.506G>C (p.Arg169Pro) c.503G>C (p.Arg168Pro) | |
| 19 | g.15192133C>T | CA9263868 | NOTCH3 | c.506G>A (p.Arg169His) c.503G>A (p.Arg168His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192134G>A | CA340884 | NOTCH3 | c.505C>T (p.Arg169Cys) c.502C>T (p.Arg168Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15192134G>C | CA404533808 | NOTCH3 | c.505C>G (p.Arg169Gly) c.502C>G (p.Arg168Gly) | dbSNP |
| 19 | g.15192134G= | CA2324750008 | NOTCH3 | c.505C= (p.Arg169=) c.502C= (p.Arg168=) | |
| 19 | g.15192134G>T | CA404533810 | NOTCH3 | c.505C>A (p.Arg169Ser) c.502C>A (p.Arg168Ser) | |
| 19 | g.15192135G>A | CA506078835 | NOTCH3 | c.504C>T (p.Cys168=) c.501C>T (p.Cys167=) | dbSNP gnomAD v4 |
| 19 | g.15192135G>C | CA404533811 | NOTCH3 | c.504C>G (p.Cys168Trp) c.501C>G (p.Cys167Trp) | |
| 19 | g.15192135G>T | CA404533813 | NOTCH3 | c.504C>A (p.Cys168Ter) c.501C>A (p.Cys167Ter) | |
| 19 | g.15192136C>A | CA404533814 | NOTCH3 | c.503G>T (p.Cys168Phe) c.500G>T (p.Cys167Phe) | dbSNP |
| 19 | g.15192136C>G | CA404533816 | NOTCH3 | c.503G>C (p.Cys168Ser) c.500G>C (p.Cys167Ser) | dbSNP |
| 19 | g.15192136C>T | CA404533817 | NOTCH3 | c.503G>A (p.Cys168Tyr) c.500G>A (p.Cys167Tyr) | ClinVar dbSNP |
| 19 | g.15192137A= | CA2324750009 | NOTCH3 | c.502T= (p.Cys168=) c.499T= (p.Cys167=) | |
| 19 | g.15192137A>C | CA404533818 | NOTCH3 | c.502T>G (p.Cys168Gly) c.499T>G (p.Cys167Gly) | |
| 19 | g.15192137A>G | CA404533822 | NOTCH3 | c.502T>C (p.Cys168Arg) c.499T>C (p.Cys167Arg) | dbSNP |
| 19 | g.15192137A>T | CA404533820 | NOTCH3 | c.502T>A (p.Cys168Ser) c.499T>A (p.Cys167Ser) | ClinVar |
| 19 | g.15192138G>A | CA305777951 | NOTCH3 | c.501C>T (p.Pro167=) c.498C>T (p.Pro166=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15192138G>C | CA506078840 | NOTCH3 | c.501C>G (p.Pro167=) c.498C>G (p.Pro166=) | |
| 19 | g.15192138G= | CA2324750010 | NOTCH3 | c.501C= (p.Pro167=) c.498C= (p.Pro166=) | |
| 19 | g.15192138G>T | CA9263869 | NOTCH3 | c.501C>A (p.Pro167=) c.498C>A (p.Pro166=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192139G>A | CA404533828 | NOTCH3 | c.500C>T (p.Pro167Leu) c.497C>T (p.Pro166Leu) | gnomAD v4 |
| 19 | g.15192139G>C | CA404533824 | NOTCH3 | c.500C>G (p.Pro167Arg) c.497C>G (p.Pro166Arg) | |
| 19 | g.15192139G>T | CA404533825 | NOTCH3 | c.500C>A (p.Pro167His) c.497C>A (p.Pro166His) | |
| 19 | g.15192140G>A | CA9263870 | NOTCH3 | c.499C>T (p.Pro167Ser) c.496C>T (p.Pro166Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15192140G>C | CA404533830 | NOTCH3 | c.499C>G (p.Pro167Ala) c.496C>G (p.Pro166Ala) | |
| 19 | g.15192140G= | CA2324750011 | NOTCH3 | c.499C= (p.Pro167=) c.496C= (p.Pro166=) | |
| 19 | g.15192140G>T | CA404533831 | NOTCH3 | c.499C>A (p.Pro167Thr) c.496C>A (p.Pro166Thr) | |
| 19 | g.15192141C>A | CA404533833 | NOTCH3 | c.498G>T (p.Glu166Asp) c.495G>T (p.Glu165Asp) | dbSNP |
| 19 | g.15192141C>G | CA404533834 | NOTCH3 | c.498G>C (p.Glu166Asp) c.495G>C (p.Glu165Asp) | dbSNP |
| 19 | g.15192141C>T | CA506078841 | NOTCH3 | c.498G>A (p.Glu166=) c.495G>A (p.Glu165=) | gnomAD v4 |
| 19 | g.15192142T>A | CA404533836 | NOTCH3 | c.497A>T (p.Glu166Val) c.494A>T (p.Glu165Val) | dbSNP |
| 19 | g.15192142T>C | CA404533838 | NOTCH3 | c.497A>G (p.Glu166Gly) c.494A>G (p.Glu165Gly) | dbSNP |
| 19 | g.15192142T>G | CA404533839 | NOTCH3 | c.497A>C (p.Glu166Ala) c.494A>C (p.Glu165Ala) | |
| 19 | g.15192143C>A | CA404533842 | NOTCH3 | c.496G>T (p.Glu166Ter) c.493G>T (p.Glu165Ter) | dbSNP |
| 19 | g.15192143C>G | CA404533841 | NOTCH3 | c.496G>C (p.Glu166Gln) c.493G>C (p.Glu165Gln) | |
| 19 | g.15192143C>T | CA404533840 | NOTCH3 | c.496G>A (p.Glu166Lys) c.493G>A (p.Glu165Lys) | gnomAD v4 |
| 19 | g.15192144A= | CA2324750012 | NOTCH3 | c.495T= (p.Gly165=) c.492T= (p.Gly164=) | |
| 19 | g.15192144A>C | CA506078845 | NOTCH3 | c.495T>G (p.Gly165=) c.492T>G (p.Gly164=) | dbSNP |
| 19 | g.15192144A>G | CA506078847 | NOTCH3 | c.495T>C (p.Gly165=) c.492T>C (p.Gly164=) | |
| 19 | g.15192144A>T | CA506078846 | NOTCH3 | c.495T>A (p.Gly165=) c.492T>A (p.Gly164=) | |
| 19 | g.15192145C>A | CA404533843 | NOTCH3 | c.494G>T (p.Gly165Val) c.491G>T (p.Gly164Val) | gnomAD v4 |
| 19 | g.15192145C>G | CA404533844 | NOTCH3 | c.494G>C (p.Gly165Ala) c.491G>C (p.Gly164Ala) | |
| 19 | g.15192145C>T | CA404533845 | NOTCH3 | c.494G>A (p.Gly165Asp) c.491G>A (p.Gly164Asp) | dbSNP |
| 19 | g.15192146C>A | CA404533846 | NOTCH3 | c.493G>T (p.Gly165Cys) c.490G>T (p.Gly164Cys) | dbSNP |
| 19 | g.15192146C= | CA2324750013 | NOTCH3 | c.493G= (p.Gly165=) c.490G= (p.Gly164=) | |
| 19 | g.15192146C>G | CA9263871 | NOTCH3 | c.493G>C (p.Gly165Arg) c.490G>C (p.Gly164Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192146C>T | CA404533847 | NOTCH3 | c.493G>A (p.Gly165Ser) c.490G>A (p.Gly164Ser) | |
| 19 | g.15192147C>A | CA506078851 | NOTCH3 | c.492G>T (p.Val164=) c.489G>T (p.Val163=) | |
| 19 | g.15192147C>G | CA506078852 | NOTCH3 | c.492G>C (p.Val164=) c.489G>C (p.Val163=) | dbSNP gnomAD v4 |
| 19 | g.15192147C>T | CA506078853 | NOTCH3 | c.492G>A (p.Val164=) c.489G>A (p.Val163=) | |
| 19 | g.15192148A= | CA2324750014 | NOTCH3 | c.491T= (p.Val164=) c.488T= (p.Val163=) | |
| 19 | g.15192148A>C | CA404533848 | NOTCH3 | c.491T>G (p.Val164Gly) c.488T>G (p.Val163Gly) | dbSNP |
| 19 | g.15192148A>G | CA404533849 | NOTCH3 | c.491T>C (p.Val164Ala) c.488T>C (p.Val163Ala) | gnomAD v4 |
| 19 | g.15192148A>T | CA404533850 | NOTCH3 | c.491T>A (p.Val164Glu) c.488T>A (p.Val163Glu) | dbSNP |
| 19 | g.15192149C>A | CA404533851 | NOTCH3 | c.490G>T (p.Val164Leu) c.487G>T (p.Val163Leu) | |
| 19 | g.15192149C= | CA2324750015 | NOTCH3 | c.490G= (p.Val164=) c.487G= (p.Val163=) | |
| 19 | g.15192149C>G | CA404533852 | NOTCH3 | c.490G>C (p.Val164Leu) c.487G>C (p.Val163Leu) | |
| 19 | g.15192149C>T | CA404533853 | NOTCH3 | c.490G>A (p.Val164Met) c.487G>A (p.Val163Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192150C>A | CA506078855 | NOTCH3 | c.489G>T (p.Arg163=) c.486G>T (p.Arg162=) | dbSNP |
| 19 | g.15192150C= | CA2324750016 | NOTCH3 | c.489G= (p.Arg163=) c.486G= (p.Arg162=) | |
| 19 | g.15192150C>G | CA506078857 | NOTCH3 | c.489G>C (p.Arg163=) c.486G>C (p.Arg162=) | |
| 19 | g.15192150C>T | CA506078858 | NOTCH3 | c.489G>A (p.Arg163=) c.486G>A (p.Arg162=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192151C>A | CA404533854 | NOTCH3 | c.488G>T (p.Arg163Leu) c.485G>T (p.Arg162Leu) | |
| 19 | g.15192151C= | CA2324750017 | NOTCH3 | c.488G= (p.Arg163=) c.485G= (p.Arg162=) | |
| 19 | g.15192151C>G | CA404533855 | NOTCH3 | c.488G>C (p.Arg163Pro) c.485G>C (p.Arg162Pro) | dbSNP |
| 19 | g.15192151C>T | CA9263872 | NOTCH3 | c.488G>A (p.Arg163Gln) c.485G>A (p.Arg162Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15192152G>A | CA9263873 | NOTCH3 | c.487C>T (p.Arg163Trp) c.484C>T (p.Arg162Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192152G>C | CA404533858 | NOTCH3 | c.487C>G (p.Arg163Gly) c.484C>G (p.Arg162Gly) | dbSNP |
| 19 | g.15192152G= | CA2324750018 | NOTCH3 | c.487C= (p.Arg163=) c.484C= (p.Arg162=) | |
| 19 | g.15192152G>T | CA506078860 | NOTCH3 | c.487C>A (p.Arg163=) c.484C>A (p.Arg162=) | |
| 19 | g.15192153G>A | CA506078862 | NOTCH3 | c.486C>T (p.Cys162=) c.483C>T (p.Cys161=) | dbSNP gnomAD v4 |
| 19 | g.15192153G>C | CA404533859 | NOTCH3 | c.486C>G (p.Cys162Trp) c.483C>G (p.Cys161Trp) | dbSNP |
| 19 | g.15192153G>T | CA404533861 | NOTCH3 | c.486C>A (p.Cys162Ter) c.483C>A (p.Cys161Ter) | |
| 19 | g.15192154C>A | CA404533862 | NOTCH3 | c.485G>T (p.Cys162Phe) c.482G>T (p.Cys161Phe) | ClinVar dbSNP |
| 19 | g.15192154C>G | CA404533863 | NOTCH3 | c.485G>C (p.Cys162Ser) c.482G>C (p.Cys161Ser) | |
| 19 | g.15192154C>T | CA404533865 | NOTCH3 | c.485G>A (p.Cys162Tyr) c.482G>A (p.Cys161Tyr) | |
| 19 | g.15192155A>C | CA404533867 | NOTCH3 | c.484T>G (p.Cys162Gly) c.481T>G (p.Cys161Gly) | ClinVar dbSNP |
| 19 | g.15192155A>G | CA404533869 | NOTCH3 | c.484T>C (p.Cys162Arg) c.481T>C (p.Cys161Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15192155A>T | CA404533870 | NOTCH3 | c.484T>A (p.Cys162Ser) c.481T>A (p.Cys161Ser) | dbSNP |
| 19 | g.15192156C>A | CA404533871 | NOTCH3 | c.483G>T (p.Glu161Asp) c.480G>T (p.Glu160Asp) | |
| 19 | g.15192156C= | CA2324750019 | NOTCH3 | c.483G= (p.Glu161=) c.480G= (p.Glu160=) | |
| 19 | g.15192156C>G | CA404533872 | NOTCH3 | c.483G>C (p.Glu161Asp) c.480G>C (p.Glu160Asp) | dbSNP gnomAD v4 |
| 19 | g.15192156C>T | CA506078864 | NOTCH3 | c.483G>A (p.Glu161=) c.480G>A (p.Glu160=) | gnomAD v4 |
| 19 | g.15192157T>A | CA404533876 | NOTCH3 | c.482A>T (p.Glu161Val) c.479A>T (p.Glu160Val) | dbSNP |
| 19 | g.15192157T>C | CA404533877 | NOTCH3 | c.482A>G (p.Glu161Gly) c.479A>G (p.Glu160Gly) | |
| 19 | g.15192157T>G | CA404533875 | NOTCH3 | c.482A>C (p.Glu161Ala) c.479A>C (p.Glu160Ala) | |
| 19 | g.15192158C>A | CA404533879 | NOTCH3 | c.481G>T (p.Glu161Ter) c.478G>T (p.Glu160Ter) | |
| 19 | g.15192158C>G | CA404533880 | NOTCH3 | c.481G>C (p.Glu161Gln) c.478G>C (p.Glu160Gln) | |
| 19 | g.15192158C>T | CA404533882 | NOTCH3 | c.481G>A (p.Glu161Lys) c.478G>A (p.Glu160Lys) | |
| 19 | g.15192159A>C | CA404533883 | NOTCH3 | c.480T>G (p.Asp160Glu) c.477T>G (p.Asp159Glu) | dbSNP |
| 19 | g.15192159A>G | CA506078867 | NOTCH3 | c.480T>C (p.Asp160=) c.477T>C (p.Asp159=) | dbSNP |
| 19 | g.15192159A>T | CA404533885 | NOTCH3 | c.480T>A (p.Asp160Glu) c.477T>A (p.Asp159Glu) | |
| 19 | g.15192160T>A | CA404533888 | NOTCH3 | c.479A>T (p.Asp160Val) c.476A>T (p.Asp159Val) | gnomAD v4 |
| 19 | g.15192160T>C | CA9263874 | NOTCH3 | c.479A>G (p.Asp160Gly) c.476A>G (p.Asp159Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192160T>G | CA404533886 | NOTCH3 | c.479A>C (p.Asp160Ala) c.476A>C (p.Asp159Ala) | |
| 19 | g.15192160T= | CA2324750020 | NOTCH3 | c.479A= (p.Asp160=) c.476A= (p.Asp159=) | |
| 19 | g.15192161C>A | CA404533890 | NOTCH3 | c.478G>T (p.Asp160Tyr) c.475G>T (p.Asp159Tyr) | dbSNP |
| 19 | g.15192161C>G | CA404533891 | NOTCH3 | c.478G>C (p.Asp160His) c.475G>C (p.Asp159His) | |
| 19 | g.15192161C>T | CA404533893 | NOTCH3 | c.478G>A (p.Asp160Asn) c.475G>A (p.Asp159Asn) | |
| 19 | g.15192162C>A | CA506078870 | NOTCH3 | c.477G>T (p.Val159=) c.474G>T (p.Val158=) | |
| 19 | g.15192162C>G | CA506078871 | NOTCH3 | c.477G>C (p.Val159=) c.474G>C (p.Val158=) | |
| 19 | g.15192162C>T | CA506078872 | NOTCH3 | c.477G>A (p.Val159=) c.474G>A (p.Val158=) | |
| 19 | g.15192163A= | CA2324750021 | NOTCH3 | c.476T= (p.Val159=) c.473T= (p.Val158=) | |
| 19 | g.15192163A>C | CA404533894 | NOTCH3 | c.476T>G (p.Val159Gly) c.473T>G (p.Val158Gly) | |
| 19 | g.15192163A>G | CA404533895 | NOTCH3 | c.476T>C (p.Val159Ala) c.473T>C (p.Val158Ala) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15192163A>T | CA404533897 | NOTCH3 | c.476T>A (p.Val159Glu) c.473T>A (p.Val158Glu) | |
| 19 | g.15192164C>A | CA404533899 | NOTCH3 | c.475G>T (p.Val159Leu) c.472G>T (p.Val158Leu) | |
| 19 | g.15192164C= | CA2324750022 | NOTCH3 | c.475G= (p.Val159=) c.472G= (p.Val158=) | |
| 19 | g.15192164C>G | CA404533901 | NOTCH3 | c.475G>C (p.Val159Leu) c.472G>C (p.Val158Leu) | |
| 19 | g.15192164C>T | CA9263875 | NOTCH3 | c.475G>A (p.Val159Met) c.472G>A (p.Val158Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15192165G>A | CA9263876 | NOTCH3 | c.474C>T (p.Asp158=) c.471C>T (p.Asp157=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192165G>C | CA404533905 | NOTCH3 | c.474C>G (p.Asp158Glu) c.471C>G (p.Asp157Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15192165G= | CA2324750023 | NOTCH3 | c.474C= (p.Asp158=) c.471C= (p.Asp157=) | |
| 19 | g.15192165G>T | CA404533903 | NOTCH3 | c.474C>A (p.Asp158Glu) c.471C>A (p.Asp157Glu) | gnomAD v4 |
| 19 | g.15192166T>A | CA404533906 | NOTCH3 | c.473A>T (p.Asp158Val) c.470A>T (p.Asp157Val) | |
| 19 | g.15192166T>C | CA404533909 | NOTCH3 | c.473A>G (p.Asp158Gly) c.470A>G (p.Asp157Gly) | |
| 19 | g.15192166T>G | CA404533907 | NOTCH3 | c.473A>C (p.Asp158Ala) c.470A>C (p.Asp157Ala) | dbSNP |
| 19 | g.15192167C>A | CA404533911 | NOTCH3 | c.472G>T (p.Asp158Tyr) c.469G>T (p.Asp157Tyr) | |
| 19 | g.15192167C= | CA2324750024 | NOTCH3 | c.472G= (p.Asp158=) c.469G= (p.Asp157=) | |
| 19 | g.15192167C>G | CA404533913 | NOTCH3 | c.472G>C (p.Asp158His) c.469G>C (p.Asp157His) | |
| 19 | g.15192167C>T | CA9263877 | NOTCH3 | c.472G>A (p.Asp158Asn) c.469G>A (p.Asp157Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192168G>A | CA9263878 | NOTCH3 | c.471C>T (p.Ser157=) c.468C>T (p.Ser156=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192168G>C | CA404533915 | NOTCH3 | c.471C>G (p.Ser157Arg) c.468C>G (p.Ser156Arg) | gnomAD v4 |
| 19 | g.15192168G= | CA2324750025 | NOTCH3 | c.471C= (p.Ser157=) c.468C= (p.Ser156=) | |
| 19 | g.15192168G>T | CA404533917 | NOTCH3 | c.471C>A (p.Ser157Arg) c.468C>A (p.Ser156Arg) | |
| 19 | g.15192169C>A | CA404533918 | NOTCH3 | c.470G>T (p.Ser157Ile) c.467G>T (p.Ser156Ile) | dbSNP |
| 19 | g.15192169C= | CA2324750026 | NOTCH3 | c.470G= (p.Ser157=) c.467G= (p.Ser156=) | |
| 19 | g.15192169C>G | CA404533919 | NOTCH3 | c.470G>C (p.Ser157Thr) c.467G>C (p.Ser156Thr) | |
| 19 | g.15192169C>T | CA404533920 | NOTCH3 | c.470G>A (p.Ser157Asn) c.467G>A (p.Ser156Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15192170T>A | CA404533922 | NOTCH3 | c.469A>T (p.Ser157Cys) c.466A>T (p.Ser156Cys) | dbSNP |
| 19 | g.15192170T>C | CA404533924 | NOTCH3 | c.469A>G (p.Ser157Gly) c.466A>G (p.Ser156Gly) | |
| 19 | g.15192170T>G | CA404533926 | NOTCH3 | c.469A>C (p.Ser157Arg) c.466A>C (p.Ser156Arg) | dbSNP |
| 19 | g.15192171T>A | CA506078883 | NOTCH3 | c.468A>T (p.Arg156=) c.465A>T (p.Arg155=) | |
| 19 | g.15192171T>C | CA506078885 | NOTCH3 | c.468A>G (p.Arg156=) c.465A>G (p.Arg155=) | |
| 19 | g.15192171T>G | CA506078884 | NOTCH3 | c.468A>C (p.Arg156=) c.465A>C (p.Arg155=) | dbSNP |
| 19 | g.15192172C>A | CA404533927 | NOTCH3 | c.467G>T (p.Arg156Leu) c.464G>T (p.Arg155Leu) | |
| 19 | g.15192172C= | CA2324750027 | NOTCH3 | c.467G= (p.Arg156=) c.464G= (p.Arg155=) | |
| 19 | g.15192172C>G | CA404533928 | NOTCH3 | c.467G>C (p.Arg156Pro) c.464G>C (p.Arg155Pro) | |
| 19 | g.15192172C>T | CA9263879 | NOTCH3 | c.467G>A (p.Arg156Gln) c.464G>A (p.Arg155Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192176_15192184del | CA2695228455 | NOTCH3 | c.459_467del (p.Ser154_Arg156del) c.456_464del (p.Ser153_Arg155del) | |
| 19 | g.15192173G>A | CA9263880 | NOTCH3 | c.466C>T (p.Arg156Ter) c.463C>T (p.Arg155Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.15192173G>C | CA404533931 | NOTCH3 | c.466C>G (p.Arg156Gly) c.463C>G (p.Arg155Gly) | dbSNP |
| 19 | g.15192173G= | CA2324750028 | NOTCH3 | c.466C= (p.Arg156=) c.463C= (p.Arg155=) | |
| 19 | g.15192173G>T | CA506078892 | NOTCH3 | c.466C>A (p.Arg156=) c.463C>A (p.Arg155=) | |
| 19 | g.15192174G>A | CA506078893 | NOTCH3 | c.465C>T (p.Cys155=) c.462C>T (p.Cys154=) | dbSNP |
| 19 | g.15192174G>C | CA404533933 | NOTCH3 | c.465C>G (p.Cys155Trp) c.462C>G (p.Cys154Trp) | |
| 19 | g.15192174G>T | CA404533934 | NOTCH3 | c.465C>A (p.Cys155Ter) c.462C>A (p.Cys154Ter) | dbSNP |
| 19 | g.15192175C>A | CA404533935 | NOTCH3 | c.464G>T (p.Cys155Phe) c.461G>T (p.Cys154Phe) | |
| 19 | g.15192175C>G | CA404533939 | NOTCH3 | c.464G>C (p.Cys155Ser) c.461G>C (p.Cys154Ser) | |
| 19 | g.15192175C>T | CA404533940 | NOTCH3 | c.464G>A (p.Cys155Tyr) c.461G>A (p.Cys154Tyr) | |
| 19 | g.15192176A= | CA2324750029 | NOTCH3 | c.463T= (p.Cys155=) c.460T= (p.Cys154=) | |
| 19 | g.15192176A>C | CA404533941 | NOTCH3 | c.463T>G (p.Cys155Gly) c.460T>G (p.Cys154Gly) | ClinVar dbSNP |
| 19 | g.15192176A>G | CA404533942 | NOTCH3 | c.463T>C (p.Cys155Arg) c.460T>C (p.Cys154Arg) | |
| 19 | g.15192176A>T | CA404533943 | NOTCH3 | c.463T>A (p.Cys155Ser) c.460T>A (p.Cys154Ser) | dbSNP |
| 19 | g.15192177G>A | CA506078897 | NOTCH3 | c.462C>T (p.Ser154=) c.459C>T (p.Ser153=) | dbSNP gnomAD v4 |
| 19 | g.15192177G>C | CA404533945 | NOTCH3 | c.462C>G (p.Ser154Arg) c.459C>G (p.Ser153Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15192177G>T | CA404533947 | NOTCH3 | c.462C>A (p.Ser154Arg) c.459C>A (p.Ser153Arg) | dbSNP |
| 19 | g.15192178C>A | CA404533951 | NOTCH3 | c.461G>T (p.Ser154Ile) c.458G>T (p.Ser153Ile) | dbSNP |
| 19 | g.15192178C>G | CA404533950 | NOTCH3 | c.461G>C (p.Ser154Thr) c.458G>C (p.Ser153Thr) | dbSNP |
| 19 | g.15192178C>T | CA404533949 | NOTCH3 | c.461G>A (p.Ser154Asn) c.458G>A (p.Ser153Asn) | dbSNP |
| 19 | g.15192179T>A | CA404533952 | NOTCH3 | c.460A>T (p.Ser154Cys) c.457A>T (p.Ser153Cys) | dbSNP |
| 19 | g.15192179T>C | CA404533954 | NOTCH3 | c.460A>G (p.Ser154Gly) c.457A>G (p.Ser153Gly) | dbSNP |
| 19 | g.15192179T>G | CA404533956 | NOTCH3 | c.460A>C (p.Ser154Arg) c.457A>C (p.Ser153Arg) | |
| 19 | g.15192180G>A | CA506078900 | NOTCH3 | c.459C>T (p.Arg153=) c.456C>T (p.Arg152=) | dbSNP |
| 19 | g.15192180G>C | CA506078901 | NOTCH3 | c.459C>G (p.Arg153=) c.456C>G (p.Arg152=) | dbSNP |
| 19 | g.15192180G= | CA2324750030 | NOTCH3 | c.459C= (p.Arg153=) c.456C= (p.Arg152=) | |
| 19 | g.15192180G>T | CA506078903 | NOTCH3 | c.459C>A (p.Arg153=) c.456C>A (p.Arg152=) | |
| 19 | g.15192181C>A | CA404533960 | NOTCH3 | c.458G>T (p.Arg153Leu) c.455G>T (p.Arg152Leu) | dbSNP gnomAD v4 |
| 19 | g.15192181C= | CA2324750031 | NOTCH3 | c.458G= (p.Arg153=) c.455G= (p.Arg152=) | |
| 19 | g.15192181C>G | CA404533961 | NOTCH3 | c.458G>C (p.Arg153Pro) c.455G>C (p.Arg152Pro) | |
| 19 | g.15192181C>T | CA9263881 | NOTCH3 | c.458G>A (p.Arg153His) c.455G>A (p.Arg152His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192182G>A | CA346917 | NOTCH3 | c.457C>T (p.Arg153Cys) c.454C>T (p.Arg152Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15192182G>C | CA404533965 | NOTCH3 | c.457C>G (p.Arg153Gly) c.454C>G (p.Arg152Gly) | dbSNP |
| 19 | g.15192182G= | CA2324750032 | NOTCH3 | c.457C= (p.Arg153=) c.454C= (p.Arg152=) | |
| 19 | g.15192182G>T | CA404533967 | NOTCH3 | c.457C>A (p.Arg153Ser) c.454C>A (p.Arg152Ser) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15192183del | CA2583065569 | NOTCH3 | c.457del (p.Arg153AlafsTer?) c.454del (p.Arg152AlafsTer?) | gnomAD v4 |
| 19 | g.15192183G>A | CA506078904 | NOTCH3 | c.456C>T (p.Gly152=) c.453C>T (p.Gly151=) | dbSNP |
| 19 | g.15192183G>C | CA506078905 | NOTCH3 | c.456C>G (p.Gly152=) c.453C>G (p.Gly151=) | |
| 19 | g.15192183G>T | CA506078906 | NOTCH3 | c.456C>A (p.Gly152=) c.453C>A (p.Gly151=) | gnomAD v4 |
| 19 | g.15192184C>A | CA404533970 | NOTCH3 | c.455G>T (p.Gly152Val) c.452G>T (p.Gly151Val) | |
| 19 | g.15192184C= | CA2324750033 | NOTCH3 | c.455G= (p.Gly152=) c.452G= (p.Gly151=) | |
| 19 | g.15192184C>G | CA404533976 | NOTCH3 | c.455G>C (p.Gly152Ala) c.452G>C (p.Gly151Ala) | dbSNP |
| 19 | g.15192184C>T | CA9263882 | NOTCH3 | c.455G>A (p.Gly152Asp) c.452G>A (p.Gly151Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15192185C>A | CA404533982 | NOTCH3 | c.454G>T (p.Gly152Cys) c.451G>T (p.Gly151Cys) | |
| 19 | g.15192185C= | CA2324750034 | NOTCH3 | c.454G= (p.Gly152=) c.451G= (p.Gly151=) | |
| 19 | g.15192185C>G | CA404533979 | NOTCH3 | c.454G>C (p.Gly152Arg) c.451G>C (p.Gly151Arg) | |
| 19 | g.15192185C>T | CA404533980 | NOTCH3 | c.454G>A (p.Gly152Ser) c.451G>A (p.Gly151Ser) | dbSNP |
| 19 | g.15192186C>A | CA404533985 | NOTCH3 | c.453G>T (p.Gln151His) c.450G>T (p.Gln150His) | |
| 19 | g.15192186C>G | CA404533987 | NOTCH3 | c.453G>C (p.Gln151His) c.450G>C (p.Gln150His) | |
| 19 | g.15192186C>T | CA506078913 | NOTCH3 | c.453G>A (p.Gln151=) c.450G>A (p.Gln150=) | |
| 19 | g.15192187T>A | CA404533988 | NOTCH3 | c.452A>T (p.Gln151Leu) c.449A>T (p.Gln150Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192187T>C | CA404533991 | NOTCH3 | c.452A>G (p.Gln151Arg) c.449A>G (p.Gln150Arg) | |
| 19 | g.15192187T>G | CA404533994 | NOTCH3 | c.452A>C (p.Gln151Pro) c.449A>C (p.Gln150Pro) | dbSNP |
| 19 | g.15192187T= | CA2324750035 | NOTCH3 | c.452A= (p.Gln151=) c.449A= (p.Gln150=) | |
| 19 | g.15192188G>A | CA404533997 | NOTCH3 | c.451C>T (p.Gln151Ter) c.448C>T (p.Gln150Ter) | dbSNP |
| 19 | g.15192188G>C | CA345458 | NOTCH3 | c.451C>G (p.Gln151Glu) c.448C>G (p.Gln150Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192188G= | CA2324750036 | NOTCH3 | c.451C= (p.Gln151=) c.448C= (p.Gln150=) | |
| 19 | g.15192188G>T | CA404534001 | NOTCH3 | c.451C>A (p.Gln151Lys) c.448C>A (p.Gln150Lys) | dbSNP |
| 19 | g.15192189G>A | CA9263883 | NOTCH3 | c.450C>T (p.Tyr150=) c.447C>T (p.Tyr149=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192189G>C | CA404534007 | NOTCH3 | c.450C>G (p.Tyr150Ter) c.447C>G (p.Tyr149Ter) | |
| 19 | g.15192189G= | CA2324750037 | NOTCH3 | c.450C= (p.Tyr150=) c.447C= (p.Tyr149=) | |
| 19 | g.15192189G>T | CA404534009 | NOTCH3 | c.450C>A (p.Tyr150Ter) c.447C>A (p.Tyr149Ter) | |
| 19 | g.15192190T>A | CA404534014 | NOTCH3 | c.449A>T (p.Tyr150Phe) c.446A>T (p.Tyr149Phe) | dbSNP |
| 19 | g.15192190T>C | CA404534017 | NOTCH3 | c.449A>G (p.Tyr150Cys) c.446A>G (p.Tyr149Cys) | ClinVar |
| 19 | g.15192190T>G | CA404534012 | NOTCH3 | c.449A>C (p.Tyr150Ser) c.446A>C (p.Tyr149Ser) | dbSNP gnomAD v4 |
| 19 | g.15192191A>C | CA404534022 | NOTCH3 | c.448T>G (p.Tyr150Asp) c.445T>G (p.Tyr149Asp) | |
| 19 | g.15192191A>G | CA404534020 | NOTCH3 | c.448T>C (p.Tyr150His) c.445T>C (p.Tyr149His) | |
| 19 | g.15192191A>T | CA404534021 | NOTCH3 | c.448T>A (p.Tyr150Asn) c.445T>A (p.Tyr149Asn) | dbSNP |
| 19 | g.15192192G>A | CA506078915 | NOTCH3 | c.447C>T (p.Gly149=) c.444C>T (p.Gly148=) | gnomAD v4 |
| 19 | g.15192192G>C | CA506078916 | NOTCH3 | c.447C>G (p.Gly149=) c.444C>G (p.Gly148=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15192192G= | CA2324750038 | NOTCH3 | c.447C= (p.Gly149=) c.444C= (p.Gly148=) | |
| 19 | g.15192192G>T | CA506078917 | NOTCH3 | c.447C>A (p.Gly149=) c.444C>A (p.Gly148=) | |
| 19 | g.15192193C>A | CA404534024 | NOTCH3 | c.446G>T (p.Gly149Val) c.443G>T (p.Gly148Val) | dbSNP |
| 19 | g.15192193C= | CA2324750039 | NOTCH3 | c.446G= (p.Gly149=) c.443G= (p.Gly148=) | |
| 19 | g.15192193C>G | CA404534027 | NOTCH3 | c.446G>C (p.Gly149Ala) c.443G>C (p.Gly148Ala) | dbSNP |
| 19 | g.15192193C>T | CA404534032 | NOTCH3 | c.446G>A (p.Gly149Asp) c.443G>A (p.Gly148Asp) | |
| 19 | g.15192193_15192194del | CA645605638 | NOTCH3 | c.445_446del (p.Gly149LeufsTer12) c.442_443del (p.Gly148LeufsTer12) | COSMIC COSMIC |
| 19 | g.15192194C>A | CA404534036 | NOTCH3 | c.445G>T (p.Gly149Cys) c.442G>T (p.Gly148Cys) | |
| 19 | g.15192194C>G | CA404534037 | NOTCH3 | c.445G>C (p.Gly149Arg) c.442G>C (p.Gly148Arg) | |
| 19 | g.15192194C>T | CA404534039 | NOTCH3 | c.445G>A (p.Gly149Ser) c.442G>A (p.Gly148Ser) | |
| 19 | g.15192195A>C | CA506078919 | NOTCH3 | c.444T>G (p.Pro148=) c.441T>G (p.Pro147=) | |
| 19 | g.15192195A>G | CA506078920 | NOTCH3 | c.444T>C (p.Pro148=) c.441T>C (p.Pro147=) | dbSNP |
| 19 | g.15192195A>T | CA506078921 | NOTCH3 | c.444T>A (p.Pro148=) c.441T>A (p.Pro147=) | |
| 19 | g.15192196G>A | CA404534041 | NOTCH3 | c.443C>T (p.Pro148Leu) c.440C>T (p.Pro147Leu) | dbSNP gnomAD v4 |
| 19 | g.15192196G>C | CA404534043 | NOTCH3 | c.443C>G (p.Pro148Arg) c.440C>G (p.Pro147Arg) | |
| 19 | g.15192196G>T | CA404534044 | NOTCH3 | c.443C>A (p.Pro148His) c.440C>A (p.Pro147His) | |
| 19 | g.15192197G>A | CA404534049 | NOTCH3 | c.442C>T (p.Pro148Ser) c.439C>T (p.Pro147Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15192197G>C | CA404534048 | NOTCH3 | c.442C>G (p.Pro148Ala) c.439C>G (p.Pro147Ala) | |
| 19 | g.15192197G= | CA2324750040 | NOTCH3 | c.442C= (p.Pro148=) c.439C= (p.Pro147=) | |
| 19 | g.15192197G>T | CA404534046 | NOTCH3 | c.442C>A (p.Pro148Thr) c.439C>A (p.Pro147Thr) | gnomAD v3 gnomAD v4 |
| 19 | g.15192198T>A | CA506078922 | NOTCH3 | c.441A>T (p.Pro147=) c.438A>T (p.Pro146=) | dbSNP |
| 19 | g.15192198T>C | CA506078923 | NOTCH3 | c.441A>G (p.Pro147=) c.438A>G (p.Pro146=) | |
| 19 | g.15192198T>G | CA506078924 | NOTCH3 | c.441A>C (p.Pro147=) c.438A>C (p.Pro146=) | dbSNP |
| 19 | g.15192198T= | CA2324750041 | NOTCH3 | c.441A= (p.Pro147=) c.438A= (p.Pro146=) | |
| 19 | g.15192199G>A | CA404534052 | NOTCH3 | c.440C>T (p.Pro147Leu) c.437C>T (p.Pro146Leu) | |
| 19 | g.15192199G>C | CA404534055 | NOTCH3 | c.440C>G (p.Pro147Arg) c.437C>G (p.Pro146Arg) | |
| 19 | g.15192199G>T | CA404534057 | NOTCH3 | c.440C>A (p.Pro147Gln) c.437C>A (p.Pro146Gln) | |
| 19 | g.15192200G>A | CA404534060 | NOTCH3 | c.439C>T (p.Pro147Ser) c.436C>T (p.Pro146Ser) | |
| 19 | g.15192200G>C | CA404534061 | NOTCH3 | c.439C>G (p.Pro147Ala) c.436C>G (p.Pro146Ala) | |
| 19 | g.15192200G>T | CA404534064 | NOTCH3 | c.439C>A (p.Pro147Thr) c.436C>A (p.Pro146Thr) | |
| 19 | g.15192201G>A | CA9263884 | NOTCH3 | c.438C>T (p.Cys146=) c.435C>T (p.Cys145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192201G>C | CA404534067 | NOTCH3 | c.438C>G (p.Cys146Trp) c.435C>G (p.Cys145Trp) | |
| 19 | g.15192201G= | CA2324750042 | NOTCH3 | c.438C= (p.Cys146=) c.435C= (p.Cys145=) | |
| 19 | g.15192201G>T | CA404534068 | NOTCH3 | c.438C>A (p.Cys146Ter) c.435C>A (p.Cys145Ter) | |
| 19 | g.15192202C>A | CA404534071 | NOTCH3 | c.437G>T (p.Cys146Phe) c.434G>T (p.Cys145Phe) | ClinVar dbSNP |
| 19 | g.15192202C= | CA2324750043 | NOTCH3 | c.437G= (p.Cys146=) c.434G= (p.Cys145=) | |
| 19 | g.15192202C>G | CA404534072 | NOTCH3 | c.437G>C (p.Cys146Ser) c.434G>C (p.Cys145Ser) | dbSNP |
| 19 | g.15192202C>T | CA404534075 | NOTCH3 | c.437G>A (p.Cys146Tyr) c.434G>A (p.Cys145Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15192203A= | CA2324750044 | NOTCH3 | c.436T= (p.Cys146=) c.433T= (p.Cys145=) | |
| 19 | g.15192203A>C | CA404534079 | NOTCH3 | c.436T>G (p.Cys146Gly) c.433T>G (p.Cys145Gly) | |
| 19 | g.15192203A>G | CA404534080 | NOTCH3 | c.436T>C (p.Cys146Arg) c.433T>C (p.Cys145Arg) | ClinVar dbSNP |
| 19 | g.15192203A>T | CA404534077 | NOTCH3 | c.436T>A (p.Cys146Ser) c.433T>A (p.Cys145Ser) | |
| 19 | g.15192204G>A | CA506078927 | NOTCH3 | c.435C>T (p.Ser145=) c.432C>T (p.Ser144=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15192204G>C | CA506078929 | NOTCH3 | c.435C>G (p.Ser145=) c.432C>G (p.Ser144=) | |
| 19 | g.15192204G= | CA2324750045 | NOTCH3 | c.435C= (p.Ser145=) c.432C= (p.Ser144=) | |
| 19 | g.15192204G>T | CA506078930 | NOTCH3 | c.435C>A (p.Ser145=) c.432C>A (p.Ser144=) | |
| 19 | g.15192205G>A | CA404534083 | NOTCH3 | c.434C>T (p.Ser145Phe) c.431C>T (p.Ser144Phe) | dbSNP gnomAD v2 |
| 19 | g.15192205G>C | CA404534086 | NOTCH3 | c.434C>G (p.Ser145Cys) c.431C>G (p.Ser144Cys) | |
| 19 | g.15192205G= | CA2324750046 | NOTCH3 | c.434C= (p.Ser145=) c.431C= (p.Ser144=) | |
| 19 | g.15192205G>T | CA404534088 | NOTCH3 | c.434C>A (p.Ser145Tyr) c.431C>A (p.Ser144Tyr) | |
| 19 | g.15192206A>C | CA404534089 | NOTCH3 | c.433T>G (p.Ser145Ala) c.430T>G (p.Ser144Ala) | |
| 19 | g.15192206A>G | CA404534090 | NOTCH3 | c.433T>C (p.Ser145Pro) c.430T>C (p.Ser144Pro) | |
| 19 | g.15192206A>T | CA404534093 | NOTCH3 | c.433T>A (p.Ser145Thr) c.430T>A (p.Ser144Thr) | dbSNP |
| 19 | g.15192207G>A | CA9263885 | NOTCH3 | c.432C>T (p.Cys144=) c.429C>T (p.Cys143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192207G>C | CA404534096 | NOTCH3 | c.432C>G (p.Cys144Trp) c.429C>G (p.Cys143Trp) | |
| 19 | g.15192207G= | CA2324750047 | NOTCH3 | c.432C= (p.Cys144=) c.429C= (p.Cys143=) | |
| 19 | g.15192207G>T | CA404534098 | NOTCH3 | c.432C>A (p.Cys144Ter) c.429C>A (p.Cys143Ter) | |
| 19 | g.15192208C>A | CA404534100 | NOTCH3 | c.431G>T (p.Cys144Phe) c.428G>T (p.Cys143Phe) | ClinVar gnomAD v4 |
| 19 | g.15192208C= | CA2324750048 | NOTCH3 | c.431G= (p.Cys144=) c.428G= (p.Cys143=) | |
| 19 | g.15192208C>G | CA404534102 | NOTCH3 | c.431G>C (p.Cys144Ser) c.428G>C (p.Cys143Ser) | |
| 19 | g.15192208C>T | CA404534104 | NOTCH3 | c.431G>A (p.Cys144Tyr) c.428G>A (p.Cys143Tyr) | ClinVar dbSNP |
| 19 | g.15192209A= | CA2324750049 | NOTCH3 | c.430T= (p.Cys144=) c.427T= (p.Cys143=) | |
| 19 | g.15192209A>C | CA404534106 | NOTCH3 | c.430T>G (p.Cys144Gly) c.427T>G (p.Cys143Gly) | |
| 19 | g.15192209A>G | CA404534107 | NOTCH3 | c.430T>C (p.Cys144Arg) c.427T>C (p.Cys143Arg) | ClinVar dbSNP |
| 19 | g.15192209A>T | CA404534105 | NOTCH3 | c.430T>A (p.Cys144Ser) c.427T>A (p.Cys143Ser) | |
| 19 | g.15192210G>A | CA506078932 | NOTCH3 | c.429C>T (p.Leu143=) c.426C>T (p.Leu142=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15192210G>C | CA506078933 | NOTCH3 | c.429C>G (p.Leu143=) c.426C>G (p.Leu142=) | |
| 19 | g.15192210G= | CA2324750050 | NOTCH3 | c.429C= (p.Leu143=) c.426C= (p.Leu142=) | |
| 19 | g.15192210G>T | CA506078934 | NOTCH3 | c.429C>A (p.Leu143=) c.426C>A (p.Leu142=) | |
| 19 | g.15192211A>C | CA404534108 | NOTCH3 | c.428T>G (p.Leu143Arg) c.425T>G (p.Leu142Arg) | |
| 19 | g.15192211A>G | CA404534109 | NOTCH3 | c.428T>C (p.Leu143Pro) c.425T>C (p.Leu142Pro) | dbSNP |
| 19 | g.15192211A>T | CA404534110 | NOTCH3 | c.428T>A (p.Leu143His) c.425T>A (p.Leu142His) | |
| 19 | g.15192212G>A | CA9263886 | NOTCH3 | c.427C>T (p.Leu143Phe) c.424C>T (p.Leu142Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192212G>C | CA404534112 | NOTCH3 | c.427C>G (p.Leu143Val) c.424C>G (p.Leu142Val) | |
| 19 | g.15192212G= | CA2324750051 | NOTCH3 | c.427C= (p.Leu143=) c.424C= (p.Leu142=) | |
| 19 | g.15192212G>T | CA404534113 | NOTCH3 | c.427C>A (p.Leu143Ile) c.424C>A (p.Leu142Ile) | dbSNP |
| 19 | g.15192213G>A | CA506078936 | NOTCH3 | c.426C>T (p.Phe142=) c.423C>T (p.Phe141=) | |
| 19 | g.15192213G>C | CA404534115 | NOTCH3 | c.426C>G (p.Phe142Leu) c.423C>G (p.Phe141Leu) | |
| 19 | g.15192213G>T | CA404534114 | NOTCH3 | c.426C>A (p.Phe142Leu) c.423C>A (p.Phe141Leu) | |
| 19 | g.15192214A= | CA2324750052 | NOTCH3 | c.425T= (p.Phe142=) c.422T= (p.Phe141=) | |
| 19 | g.15192214A>C | CA404534117 | NOTCH3 | c.425T>G (p.Phe142Cys) c.422T>G (p.Phe141Cys) | |
| 19 | g.15192214A>G | CA404534118 | NOTCH3 | c.425T>C (p.Phe142Ser) c.422T>C (p.Phe141Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15192214A>T | CA404534121 | NOTCH3 | c.425T>A (p.Phe142Tyr) c.422T>A (p.Phe141Tyr) | |
| 19 | g.15192215A= | CA2324750053 | NOTCH3 | c.424T= (p.Phe142=) c.421T= (p.Phe141=) | |
| 19 | g.15192215A>C | CA404534123 | NOTCH3 | c.424T>G (p.Phe142Val) c.421T>G (p.Phe141Val) | dbSNP |
| 19 | g.15192215A>G | CA305778063 | NOTCH3 | c.424T>C (p.Phe142Leu) c.421T>C (p.Phe141Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15192215A>T | CA404534126 | NOTCH3 | c.424T>A (p.Phe142Ile) c.421T>A (p.Phe141Ile) | |
| 19 | g.15192216G>A | CA305778065 | NOTCH3 | c.423C>T (p.Arg141=) c.420C>T (p.Arg140=) | dbSNP |
| 19 | g.15192216G>C | CA506078938 | NOTCH3 | c.423C>G (p.Arg141=) c.420C>G (p.Arg140=) | dbSNP |
| 19 | g.15192216G= | CA2324750054 | NOTCH3 | c.423C= (p.Arg141=) c.420C= (p.Arg140=) | |
| 19 | g.15192216G>T | CA506078939 | NOTCH3 | c.423C>A (p.Arg141=) c.420C>A (p.Arg140=) | COSMIC COSMIC |
| 19 | g.15192217C>A | CA404534138 | NOTCH3 | c.422G>T (p.Arg141Leu) c.419G>T (p.Arg140Leu) | |
| 19 | g.15192217C= | CA2324750055 | NOTCH3 | c.422G= (p.Arg141=) c.419G= (p.Arg140=) | |
| 19 | g.15192217C>G | CA404534136 | NOTCH3 | c.422G>C (p.Arg141Pro) c.419G>C (p.Arg140Pro) | |
| 19 | g.15192217C>T | CA9263887 | NOTCH3 | c.422G>A (p.Arg141His) c.419G>A (p.Arg140His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15192218G>A | CA404534145 | NOTCH3 | c.421C>T (p.Arg141Cys) c.418C>T (p.Arg140Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15192218G>C | CA404534140 | NOTCH3 | c.421C>G (p.Arg141Gly) c.418C>G (p.Arg140Gly) | |
| 19 | g.15192218G= | CA2324750056 | NOTCH3 | c.421C= (p.Arg141=) c.418C= (p.Arg140=) | |
| 19 | g.15192218G>T | CA404534142 | NOTCH3 | c.421C>A (p.Arg141Ser) c.418C>A (p.Arg140Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192219T>A | CA506078945 | NOTCH3 | c.420A>T (p.Gly140=) c.417A>T (p.Gly139=) | dbSNP gnomAD v4 |
| 19 | g.15192219T>C | CA506078943 | NOTCH3 | c.420A>G (p.Gly140=) c.417A>G (p.Gly139=) | gnomAD v4 |
| 19 | g.15192219T>G | CA506078944 | NOTCH3 | c.420A>C (p.Gly140=) c.417A>C (p.Gly139=) | dbSNP |
| 19 | g.15192219T= | CA2324750057 | NOTCH3 | c.420A= (p.Gly140=) c.417A= (p.Gly139=) | |
| 19 | g.15192220C>A | CA305778069 | NOTCH3 | c.419G>T (p.Gly140Val) c.416G>T (p.Gly139Val) | dbSNP |
| 19 | g.15192220C= | CA2324750058 | NOTCH3 | c.419G= (p.Gly140=) c.416G= (p.Gly139=) | |
| 19 | g.15192220C>G | CA404534149 | NOTCH3 | c.419G>C (p.Gly140Ala) c.416G>C (p.Gly139Ala) | dbSNP |
| 19 | g.15192220C>T | CA404534151 | NOTCH3 | c.419G>A (p.Gly140Glu) c.416G>A (p.Gly139Glu) | dbSNP |
| 19 | g.15192221C>A | CA404534157 | NOTCH3 | c.418G>T (p.Gly140Ter) c.415G>T (p.Gly139Ter) | |
| 19 | g.15192221C>G | CA404534155 | NOTCH3 | c.418G>C (p.Gly140Arg) c.415G>C (p.Gly139Arg) | |
| 19 | g.15192221C>T | CA404534153 | NOTCH3 | c.418G>A (p.Gly140Arg) c.415G>A (p.Gly139Arg) |