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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.15191651A>C | CA404531917 | NOTCH3 | c.809T>G (p.Phe270Cys) c.806T>G (p.Phe269Cys) | |
| 19 | g.15191651A>G | CA404531921 | NOTCH3 | c.809T>C (p.Phe270Ser) c.806T>C (p.Phe269Ser) | |
| 19 | g.15191651A>T | CA404531945 | NOTCH3 | c.809T>A (p.Phe270Tyr) c.806T>A (p.Phe269Tyr) | |
| 19 | g.15191652A>C | CA404531951 | NOTCH3 | c.808T>G (p.Phe270Val) c.805T>G (p.Phe269Val) | |
| 19 | g.15191652A>G | CA404531949 | NOTCH3 | c.808T>C (p.Phe270Leu) c.805T>C (p.Phe269Leu) | |
| 19 | g.15191652A>T | CA404531948 | NOTCH3 | c.808T>A (p.Phe270Ile) c.805T>A (p.Phe269Ile) | |
| 19 | g.15191653C>A | CA404531954 | NOTCH3 | c.807G>T (p.Gln269His) c.804G>T (p.Gln268His) | |
| 19 | g.15191653C>G | CA404531957 | NOTCH3 | c.807G>C (p.Gln269His) c.804G>C (p.Gln268His) | |
| 19 | g.15191653C>T | CA506078664 | NOTCH3 | c.807G>A (p.Gln269=) c.804G>A (p.Gln268=) | gnomAD v4 |
| 19 | g.15191654T>A | CA404531960 | NOTCH3 | c.806A>T (p.Gln269Leu) c.803A>T (p.Gln268Leu) | |
| 19 | g.15191654T>C | CA404531962 | NOTCH3 | c.806A>G (p.Gln269Arg) c.803A>G (p.Gln268Arg) | |
| 19 | g.15191654T>G | CA404531964 | NOTCH3 | c.806A>C (p.Gln269Pro) c.803A>C (p.Gln268Pro) | |
| 19 | g.15191655G>A | CA404531969 | NOTCH3 | c.805C>T (p.Gln269Ter) c.802C>T (p.Gln268Ter) | gnomAD v4 |
| 19 | g.15191655G>C | CA404531971 | NOTCH3 | c.805C>G (p.Gln269Glu) c.802C>G (p.Gln268Glu) | |
| 19 | g.15191655G>T | CA404531984 | NOTCH3 | c.805C>A (p.Gln269Lys) c.802C>A (p.Gln268Lys) | COSMIC COSMIC |
| 19 | g.15191656G>A | CA9263775 | NOTCH3 | c.804C>T (p.Gly268=) c.801C>T (p.Gly267=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191656G>C | CA506078667 | NOTCH3 | c.804C>G (p.Gly268=) c.801C>G (p.Gly267=) | |
| 19 | g.15191656G= | CA2324749780 | NOTCH3 | c.804C= (p.Gly268=) c.801C= (p.Gly267=) | |
| 19 | g.15191656G>T | CA506078668 | NOTCH3 | c.804C>A (p.Gly268=) c.801C>A (p.Gly267=) | |
| 19 | g.15191657C>A | CA404531990 | NOTCH3 | c.803G>T (p.Gly268Val) c.800G>T (p.Gly267Val) | |
| 19 | g.15191657C>G | CA404531994 | NOTCH3 | c.803G>C (p.Gly268Ala) c.800G>C (p.Gly267Ala) | |
| 19 | g.15191657C>T | CA404531997 | NOTCH3 | c.803G>A (p.Gly268Asp) c.800G>A (p.Gly267Asp) | dbSNP gnomAD v4 |
| 19 | g.15191658C>A | CA404532006 | NOTCH3 | c.803-1G>T (n.803-1G>T) c.800-1G>T (n.800-1G>T) | |
| 19 | g.15191658C>G | CA404532001 | NOTCH3 | c.803-1G>C (n.803-1G>C) c.800-1G>C (n.800-1G>C) | gnomAD v4 |
| 19 | g.15191658C>T | CA404532000 | NOTCH3 | c.803-1G>A (n.803-1G>A) c.800-1G>A (n.800-1G>A) | |
| 19 | g.15191659T>A | CA404532012 | NOTCH3 | c.803-2A>T (n.803-2A>T) c.800-2A>T (n.800-2A>T) | |
| 19 | g.15191659T>C | CA404532014 | NOTCH3 | c.803-2A>G (n.803-2A>G) c.800-2A>G (n.800-2A>G) | |
| 19 | g.15191659T>G | CA404532017 | NOTCH3 | c.803-2A>C (n.803-2A>C) c.800-2A>C (n.800-2A>C) | |
| 19 | g.15191660G>A | CA2324749782 | NOTCH3 | c.803-3C>T (n.803-3C>T) c.800-3C>T (n.800-3C>T) | dbSNP gnomAD v4 |
| 19 | g.15191660G>C | CA2583065555 | NOTCH3 | c.803-3C>G (n.803-3C>G) c.800-3C>G (n.800-3C>G) | gnomAD v4 |
| 19 | g.15191660G= | CA2324749781 | NOTCH3 | c.803-3C= (n.803-3C=) c.800-3C= (n.800-3C=) | |
| 19 | g.15191661T>G | CA783621391 | NOTCH3 | c.803-4A>C (n.803-4A>C) c.800-4A>C (n.800-4A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15191661T= | CA2324749783 | NOTCH3 | c.803-4A= (n.803-4A=) c.800-4A= (n.800-4A=) | |
| 19 | g.15191662G= | CA2324749784 | NOTCH3 | c.803-5C= (n.803-5C=) c.800-5C= (n.800-5C=) | |
| 19 | g.15191662G>T | CA9263776 | NOTCH3 | c.803-5C>A (n.803-5C>A) c.800-5C>A (n.800-5C>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.15191663G>A | CA2583065556 | NOTCH3 | c.803-6C>T (n.803-6C>T) c.800-6C>T (n.800-6C>T) | dbSNP gnomAD v4 |
| 19 | g.15191664C>A | CA2583065557 | NOTCH3 | c.803-7G>T (n.803-7G>T) c.800-7G>T (n.800-7G>T) | gnomAD v4 |
| 19 | g.15191664C>T | CA2735784735 | NOTCH3 | c.803-7G>A (n.803-7G>A) c.800-7G>A (n.800-7G>A) | dbSNP |
| 19 | g.15191666C>A | CA2735654572 | NOTCH3 | c.803-9G>T (n.803-9G>T) c.800-9G>T (n.800-9G>T) | dbSNP |
| 19 | g.15191666C= | CA2324749785 | NOTCH3 | c.803-9G= (n.803-9G=) c.800-9G= (n.800-9G=) | |
| 19 | g.15191666C>T | CA2324749786 | NOTCH3 | c.803-9G>A (n.803-9G>A) c.800-9G>A (n.800-9G>A) | dbSNP gnomAD v4 |
| 19 | g.15191668C>A | CA2735638009 | NOTCH3 | c.803-11G>T (n.803-11G>T) c.800-11G>T (n.800-11G>T) | dbSNP |
| 19 | g.15191668C= | CA2324749787 | NOTCH3 | c.803-11G= (n.803-11G=) c.800-11G= (n.800-11G=) | |
| 19 | g.15191668C>G | CA632128086 | NOTCH3 | c.803-11G>C (n.803-11G>C) c.800-11G>C (n.800-11G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191668C>T | CA2583065558 | NOTCH3 | c.803-11G>A (n.803-11G>A) c.800-11G>A (n.800-11G>A) | dbSNP gnomAD v4 |
| 19 | g.15191670G>C | CA2576658933 | NOTCH3 | c.803-13C>G (n.803-13C>G) c.800-13C>G (n.800-13C>G) | |
| 19 | g.15191672T>C | CA2324749789 | NOTCH3 | c.803-15A>G (n.803-15A>G) c.800-15A>G (n.800-15A>G) | dbSNP gnomAD v4 |
| 19 | g.15191672T>G | CA9263777 | NOTCH3 | c.803-15A>C (n.803-15A>C) c.800-15A>C (n.800-15A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191672T= | CA2324749788 | NOTCH3 | c.803-15A= (n.803-15A=) c.800-15A= (n.800-15A=) | |
| 19 | g.15191673G>C | CA2735623989 | NOTCH3 | c.803-16C>G (n.803-16C>G) c.800-16C>G (n.800-16C>G) | dbSNP |
| 19 | g.15191673G= | CA2324749790 | NOTCH3 | c.803-16C= (n.803-16C=) c.800-16C= (n.800-16C=) | |
| 19 | g.15191673G>T | CA9263778 | NOTCH3 | c.803-16C>A (n.803-16C>A) c.800-16C>A (n.800-16C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191674C>A | CA2735623991 | NOTCH3 | c.803-17G>T (n.803-17G>T) c.800-17G>T (n.800-17G>T) | dbSNP |
| 19 | g.15191674C= | CA2324749791 | NOTCH3 | c.803-17G= (n.803-17G=) c.800-17G= (n.800-17G=) | |
| 19 | g.15191674C>G | CA9263779 | NOTCH3 | c.803-17G>C (n.803-17G>C) c.800-17G>C (n.800-17G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191674C>T | CA2735623990 | NOTCH3 | c.803-17G>A (n.803-17G>A) c.800-17G>A (n.800-17G>A) | dbSNP |
| 19 | g.15191676G>A | CA2735784736 | NOTCH3 | c.803-19C>T (n.803-19C>T) c.800-19C>T (n.800-19C>T) | dbSNP |
| 19 | g.15191677C>A | CA2735671187 | NOTCH3 | c.803-20G>T (n.803-20G>T) c.800-20G>T (n.800-20G>T) | dbSNP |
| 19 | g.15191677C= | CA2324749792 | NOTCH3 | c.803-20G= (n.803-20G=) c.800-20G= (n.800-20G=) | |
| 19 | g.15191677C>T | CA2324749793 | NOTCH3 | c.803-20G>A (n.803-20G>A) c.800-20G>A (n.800-20G>A) | dbSNP gnomAD v4 |
| 19 | g.15191679G>C | CA2324749795 | NOTCH3 | c.803-22C>G (n.803-22C>G) c.800-22C>G (n.800-22C>G) | dbSNP |
| 19 | g.15191679G= | CA2324749794 | NOTCH3 | c.803-22C= (n.803-22C=) c.800-22C= (n.800-22C=) | |
| 19 | g.15191681C>A | CA2583065559 | NOTCH3 | c.803-24G>T (n.803-24G>T) c.800-24G>T (n.800-24G>T) | dbSNP gnomAD v4 |
| 19 | g.15191681C= | CA2324749796 | NOTCH3 | c.803-24G= (n.803-24G=) c.800-24G= (n.800-24G=) | |
| 19 | g.15191681C>G | CA632128087 | NOTCH3 | c.803-24G>C (n.803-24G>C) c.800-24G>C (n.800-24G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191682C>T | CA2583065560 | NOTCH3 | c.803-25G>A (n.803-25G>A) c.800-25G>A (n.800-25G>A) | dbSNP gnomAD v4 |
| 19 | g.15191685C>A | CA2576658934 | NOTCH3 | c.803-28G>T (n.803-28G>T) c.800-28G>T (n.800-28G>T) | dbSNP |
| 19 | g.15191686C>A | CA2735784844 | NOTCH3 | c.803-29G>T (n.803-29G>T) c.800-29G>T (n.800-29G>T) | dbSNP |
| 19 | g.15191686C>T | CA2735784835 | NOTCH3 | c.803-29G>A (n.803-29G>A) c.800-29G>A (n.800-29G>A) | dbSNP |
| 19 | g.15191687A= | CA2324749797 | NOTCH3 | c.803-30T= (n.803-30T=) c.800-30T= (n.800-30T=) | |
| 19 | g.15191687A>G | CA783621397 | NOTCH3 | c.803-30T>C (n.803-30T>C) c.800-30T>C (n.800-30T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15191687A>T | CA2735638868 | NOTCH3 | c.803-30T>A (n.803-30T>A) c.800-30T>A (n.800-30T>A) | dbSNP |
| 19 | g.15191688C>A | CA783621398 | NOTCH3 | c.803-31G>T (n.803-31G>T) c.800-31G>T (n.800-31G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15191688C= | CA2324749798 | NOTCH3 | c.803-31G= (n.803-31G=) c.800-31G= (n.800-31G=) | |
| 19 | g.15191688C>T | CA632128088 | NOTCH3 | c.803-31G>A (n.803-31G>A) c.800-31G>A (n.800-31G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191689C= | CA2324749799 | NOTCH3 | c.803-32G= (n.803-32G=) c.800-32G= (n.800-32G=) | |
| 19 | g.15191689C>G | CA9263780 | NOTCH3 | c.803-32G>C (n.803-32G>C) c.800-32G>C (n.800-32G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191689C>T | CA2735623371 | NOTCH3 | c.803-32G>A (n.803-32G>A) c.800-32G>A (n.800-32G>A) | dbSNP |
| 19 | g.15191690T>C | CA2583065561 | NOTCH3 | c.803-33A>G (n.803-33A>G) c.800-33A>G (n.800-33A>G) | gnomAD v4 |
| 19 | g.15191691G>A | CA9263781 | NOTCH3 | c.803-34C>T (n.803-34C>T) c.800-34C>T (n.800-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191691G= | CA2324749800 | NOTCH3 | c.803-34C= (n.803-34C=) c.800-34C= (n.800-34C=) | |
| 19 | g.15191691G>T | CA2813728451 | NOTCH3 | c.803-34C>A (n.803-34C>A) c.800-34C>A (n.800-34C>A) | |
| 19 | g.15191694_15191695del | CA2813728452 | NOTCH3 | c.803-36_803-35del (n.803-36_803-35del) c.800-36_800-35del (n.800-36_800-35del) | |
| 19 | g.15191693C= | CA2324749801 | NOTCH3 | c.803-36G= (n.803-36G=) c.800-36G= (n.800-36G=) | |
| 19 | g.15191693C>T | CA632128089 | NOTCH3 | c.803-36G>A (n.803-36G>A) c.800-36G>A (n.800-36G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191694G>A | CA9263782 | NOTCH3 | c.803-37C>T (n.803-37C>T) c.800-37C>T (n.800-37C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191694G= | CA2324749802 | NOTCH3 | c.803-37C= (n.803-37C=) c.800-37C= (n.800-37C=) | |
| 19 | g.15191694G>T | CA2576658935 | NOTCH3 | c.803-37C>A (n.803-37C>A) c.800-37C>A (n.800-37C>A) | gnomAD v4 |
| 19 | g.15191695_15191696insTTGGTAGAGATAGGGTTTTGCC | CA2583065562 | NOTCH3 | c.803-38_803-37insGCAAAACCCTATCTCTACCAAG (n.803-38_803-37insGCAAAACCCTATCTCTACCAAG) c.800-38_800-37insGCAAAACCCTATCTCTACCAAG (n.800-38_800-37insGCAAAACCCTATCTCTACCAAG) | gnomAD v4 |
| 19 | g.15191696A= | CA2324749803 | NOTCH3 | c.803-39T= (n.803-39T=) c.800-39T= (n.800-39T=) | |
| 19 | g.15191696A>G | CA2324749804 | NOTCH3 | c.803-39T>C (n.803-39T>C) c.800-39T>C (n.800-39T>C) | dbSNP gnomAD v4 |
| 19 | g.15191697T>A | CA9263783 | NOTCH3 | c.803-40A>T (n.803-40A>T) c.800-40A>T (n.800-40A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191697T>C | CA305777408 | NOTCH3 | c.803-40A>G (n.803-40A>G) c.800-40A>G (n.800-40A>G) | dbSNP |
| 19 | g.15191697T>G | CA632128090 | NOTCH3 | c.803-40A>C (n.803-40A>C) c.800-40A>C (n.800-40A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191697T= | CA2324749805 | NOTCH3 | c.803-40A= (n.803-40A=) c.800-40A= (n.800-40A=) | |
| 19 | g.15191698G>A | CA632128091 | NOTCH3 | c.803-41C>T (n.803-41C>T) c.800-41C>T (n.800-41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191698G= | CA2324749806 | NOTCH3 | c.803-41C= (n.803-41C=) c.800-41C= (n.800-41C=) | |
| 19 | g.15191699_15191700insTGCCCAGGCT | CA2583065563 | NOTCH3 | c.803-42_803-41insGCCTGGGCAA (n.803-42_803-41insGCCTGGGCAA) c.800-42_800-41insGCCTGGGCAA (n.800-42_800-41insGCCTGGGCAA) | gnomAD v4 |
| 19 | g.15191701C>T | CA2735784848 | NOTCH3 | c.803-44G>A (n.803-44G>A) c.800-44G>A (n.800-44G>A) | dbSNP |
| 19 | g.15191702A= | CA2324749807 | NOTCH3 | c.802+43T= (n.802+43T=) c.799+43T= (n.799+43T=) | |
| 19 | g.15191702A>C | CA2324749808 | NOTCH3 | c.802+43T>G (n.802+43T>G) c.799+43T>G (n.799+43T>G) | dbSNP |
| 19 | g.15191703C>A | CA783621399 | NOTCH3 | c.802+42G>T (n.802+42G>T) c.799+42G>T (n.799+42G>T) | dbSNP |
| 19 | g.15191703C= | CA2324749809 | NOTCH3 | c.802+42G= (n.802+42G=) c.799+42G= (n.799+42G=) | |
| 19 | g.15191703C>T | CA9263784 | NOTCH3 | c.802+42G>A (n.802+42G>A) c.799+42G>A (n.799+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191705C= | CA2324749810 | NOTCH3 | c.802+40G= (n.802+40G=) c.799+40G= (n.799+40G=) | |
| 19 | g.15191705C>T | CA632128092 | NOTCH3 | c.802+40G>A (n.802+40G>A) c.799+40G>A (n.799+40G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191706G>A | CA9263785 | NOTCH3 | c.802+39C>T (n.802+39C>T) c.799+39C>T (n.799+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191706G>C | CA2735623119 | NOTCH3 | c.802+39C>G (n.802+39C>G) c.799+39C>G (n.799+39C>G) | dbSNP |
| 19 | g.15191706G= | CA2324749811 | NOTCH3 | c.802+39C= (n.802+39C=) c.799+39C= (n.799+39C=) | |
| 19 | g.15191707A>T | CA2735784856 | NOTCH3 | c.802+38T>A (n.802+38T>A) c.799+38T>A (n.799+38T>A) | dbSNP |
| 19 | g.15191708G>C | CA632128093 | NOTCH3 | c.802+37C>G (n.802+37C>G) c.799+37C>G (n.799+37C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191708G= | CA2324749812 | NOTCH3 | c.802+37C= (n.802+37C=) c.799+37C= (n.799+37C=) | |
| 19 | g.15191708G>T | CA9263786 | NOTCH3 | c.802+37C>A (n.802+37C>A) c.799+37C>A (n.799+37C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191709G>C | CA2735784886 | NOTCH3 | c.802+36C>G (n.802+36C>G) c.799+36C>G (n.799+36C>G) | dbSNP |
| 19 | g.15191710C>A | CA305777430 | NOTCH3 | c.802+35G>T (n.802+35G>T) c.799+35G>T (n.799+35G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191710C= | CA2324749813 | NOTCH3 | c.802+35G= (n.802+35G=) c.799+35G= (n.799+35G=) | |
| 19 | g.15191710C>G | CA2583065564 | NOTCH3 | c.802+35G>C (n.802+35G>C) c.799+35G>C (n.799+35G>C) | gnomAD v4 |
| 19 | g.15191710C>T | CA2735633881 | NOTCH3 | c.802+35G>A (n.802+35G>A) c.799+35G>A (n.799+35G>A) | dbSNP |
| 19 | g.15191711C>T | CA2735784898 | NOTCH3 | c.802+34G>A (n.802+34G>A) c.799+34G>A (n.799+34G>A) | dbSNP |
| 19 | g.15191712T>G | CA2583065565 | NOTCH3 | c.802+33A>C (n.802+33A>C) c.799+33A>C (n.799+33A>C) | gnomAD v4 |
| 19 | g.15191713G>A | CA2735784933 | NOTCH3 | c.802+32C>T (n.802+32C>T) c.799+32C>T (n.799+32C>T) | dbSNP |
| 19 | g.15191714C>A | CA2583065566 | NOTCH3 | c.802+31G>T (n.802+31G>T) c.799+31G>T (n.799+31G>T) | dbSNP gnomAD v4 |
| 19 | g.15191714C= | CA2324749814 | NOTCH3 | c.802+31G= (n.802+31G=) c.799+31G= (n.799+31G=) | |
| 19 | g.15191714C>G | CA2735650051 | NOTCH3 | c.802+31G>C (n.802+31G>C) c.799+31G>C (n.799+31G>C) | dbSNP |
| 19 | g.15191714C>T | CA632128094 | NOTCH3 | c.802+31G>A (n.802+31G>A) c.799+31G>A (n.799+31G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191715C>A | CA2735784945 | NOTCH3 | c.802+30G>T (n.802+30G>T) c.799+30G>T (n.799+30G>T) | dbSNP |
| 19 | g.15191717C>A | CA2813728453 | NOTCH3 | c.802+28G>T (n.802+28G>T) c.799+28G>T (n.799+28G>T) | |
| 19 | g.15191717C>G | CA2583065567 | NOTCH3 | c.802+28G>C (n.802+28G>C) c.799+28G>C (n.799+28G>C) | gnomAD v4 |
| 19 | g.15191718C>T | CA2735784949 | NOTCH3 | c.802+27G>A (n.802+27G>A) c.799+27G>A (n.799+27G>A) | dbSNP |
| 19 | g.15191720C>A | CA2735619896 | NOTCH3 | c.802+25G>T (n.802+25G>T) c.799+25G>T (n.799+25G>T) | dbSNP |
| 19 | g.15191720C= | CA2324749815 | NOTCH3 | c.802+25G= (n.802+25G=) c.799+25G= (n.799+25G=) | |
| 19 | g.15191720C>T | CA9263787 | NOTCH3 | c.802+25G>A (n.802+25G>A) c.799+25G>A (n.799+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191721G>A | CA9263788 | NOTCH3 | c.802+24C>T (n.802+24C>T) c.799+24C>T (n.799+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191721G>C | CA2735622787 | NOTCH3 | c.802+24C>G (n.802+24C>G) c.799+24C>G (n.799+24C>G) | dbSNP |
| 19 | g.15191721G= | CA2324749816 | NOTCH3 | c.802+24C= (n.802+24C=) c.799+24C= (n.799+24C=) | |
| 19 | g.15191722C= | CA2324749817 | NOTCH3 | c.802+23G= (n.802+23G=) c.799+23G= (n.799+23G=) | |
| 19 | g.15191722C>T | CA9263789 | NOTCH3 | c.802+23G>A (n.802+23G>A) c.799+23G>A (n.799+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191725C>T | CA2583065568 | NOTCH3 | c.802+20G>A (n.802+20G>A) c.799+20G>A (n.799+20G>A) | dbSNP gnomAD v4 |
| 19 | g.15191726C= | CA2324749818 | NOTCH3 | c.802+19G= (n.802+19G=) c.799+19G= (n.799+19G=) | |
| 19 | g.15191726C>G | CA783621400 | NOTCH3 | c.802+19G>C (n.802+19G>C) c.799+19G>C (n.799+19G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15191728C>A | CA2735784950 | NOTCH3 | c.802+17G>T (n.802+17G>T) c.799+17G>T (n.799+17G>T) | dbSNP |
| 19 | g.15191731G>C | CA632128095 | NOTCH3 | c.802+14C>G (n.802+14C>G) c.799+14C>G (n.799+14C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191731G= | CA2324749819 | NOTCH3 | c.802+14C= (n.802+14C=) c.799+14C= (n.799+14C=) | |
| 19 | g.15191731G>T | CA2576658936 | NOTCH3 | c.802+14C>A (n.802+14C>A) c.799+14C>A (n.799+14C>A) | |
| 19 | g.15191732C>T | CA2735784966 | NOTCH3 | c.802+13G>A (n.802+13G>A) c.799+13G>A (n.799+13G>A) | dbSNP |
| 19 | g.15191733C= | CA2324749820 | NOTCH3 | c.802+12G= (n.802+12G=) c.799+12G= (n.799+12G=) | |
| 19 | g.15191733C>T | CA9263790 | NOTCH3 | c.802+12G>A (n.802+12G>A) c.799+12G>A (n.799+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191734G>A | CA632128096 | NOTCH3 | c.802+11C>T (n.802+11C>T) c.799+11C>T (n.799+11C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191734G>C | CA2735637608 | NOTCH3 | c.802+11C>G (n.802+11C>G) c.799+11C>G (n.799+11C>G) | dbSNP |
| 19 | g.15191734G= | CA2324749821 | NOTCH3 | c.802+11C= (n.802+11C=) c.799+11C= (n.799+11C=) | |
| 19 | g.15191734G>T | CA2813728454 | NOTCH3 | c.802+11C>A (n.802+11C>A) c.799+11C>A (n.799+11C>A) | |
| 19 | g.15191734_15191735delinsGC | CA2324749822 | NOTCH3 | c.802+10_802+11delinsGC (n.802+10_802+11delinsGC) c.799+10_799+11delinsGC (n.799+10_799+11delinsGC) | |
| 19 | g.15191735del | CA2324749823 | NOTCH3 | c.802+10del (n.802+10del) c.799+10del (n.799+10del) | dbSNP |
| 19 | g.15191736A>G | CA2735784970 | NOTCH3 | c.802+9T>C (n.802+9T>C) c.799+9T>C (n.799+9T>C) | dbSNP |
| 19 | g.15191736dup | CA2583065570 | NOTCH3 | c.802+9dup (n.802+9dup) c.799+9dup (n.799+9dup) | gnomAD v4 |
| 19 | g.15191737G>A | CA2735784975 | NOTCH3 | c.802+8C>T (n.802+8C>T) c.799+8C>T (n.799+8C>T) | dbSNP |
| 19 | g.15191738T>G | CA2583065571 | NOTCH3 | c.802+7A>C (n.802+7A>C) c.799+7A>C (n.799+7A>C) | gnomAD v4 |
| 19 | g.15191739G>A | CA2735671190 | NOTCH3 | c.802+6C>T (n.802+6C>T) c.799+6C>T (n.799+6C>T) | dbSNP |
| 19 | g.15191739G>C | CA993898900 | NOTCH3 | c.802+6C>G (n.802+6C>G) c.799+6C>G (n.799+6C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15191739G= | CA2324749824 | NOTCH3 | c.802+6C= (n.802+6C=) c.799+6C= (n.799+6C=) | |
| 19 | g.15191740C= | CA2324749825 | NOTCH3 | c.802+5G= (n.802+5G=) c.799+5G= (n.799+5G=) | |
| 19 | g.15191740C>T | CA783621401 | NOTCH3 | c.802+5G>A (n.802+5G>A) c.799+5G>A (n.799+5G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15191741C= | CA2324749826 | NOTCH3 | c.802+4G= (n.802+4G=) c.799+4G= (n.799+4G=) | |
| 19 | g.15191741C>T | CA9263791 | NOTCH3 | c.802+4G>A (n.802+4G>A) c.799+4G>A (n.799+4G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191742C>A | CA2735784992 | NOTCH3 | c.802+3G>T (n.802+3G>T) c.799+3G>T (n.799+3G>T) | dbSNP |
| 19 | g.15191742C>T | CA2576658937 | NOTCH3 | c.802+3G>A (n.802+3G>A) c.799+3G>A (n.799+3G>A) | gnomAD v4 |
| 19 | g.15191743A= | CA2324749827 | NOTCH3 | c.802+2T= (n.802+2T=) c.799+2T= (n.799+2T=) | |
| 19 | g.15191743A>C | CA404532081 | NOTCH3 | c.802+2T>G (n.802+2T>G) c.799+2T>G (n.799+2T>G) | dbSNP gnomAD v4 |
| 19 | g.15191743A>G | CA404532086 | NOTCH3 | c.802+2T>C (n.802+2T>C) c.799+2T>C (n.799+2T>C) | |
| 19 | g.15191743A>T | CA404532089 | NOTCH3 | c.802+2T>A (n.802+2T>A) c.799+2T>A (n.799+2T>A) | dbSNP |
| 19 | g.15191744C>A | CA404532092 | NOTCH3 | c.802+1G>T (n.802+1G>T) c.799+1G>T (n.799+1G>T) | |
| 19 | g.15191744C>G | CA404532094 | NOTCH3 | c.802+1G>C (n.802+1G>C) c.799+1G>C (n.799+1G>C) | |
| 19 | g.15191744C>T | CA404532099 | NOTCH3 | c.802+1G>A (n.802+1G>A) c.799+1G>A (n.799+1G>A) | dbSNP |
| 19 | g.15191745C>A | CA404532104 | NOTCH3 | c.802G>T (p.Gly268Cys) c.799G>T (p.Gly267Cys) | |
| 19 | g.15191745C>G | CA404532105 | NOTCH3 | c.802G>C (p.Gly268Arg) c.799G>C (p.Gly267Arg) | dbSNP |
| 19 | g.15191745C>T | CA404532109 | NOTCH3 | c.802G>A (p.Gly268Ser) c.799G>A (p.Gly267Ser) | |
| 19 | g.15191746T>A | CA506078679 | NOTCH3 | c.801A>T (p.Thr267=) c.798A>T (p.Thr266=) | |
| 19 | g.15191746T>C | CA506078680 | NOTCH3 | c.801A>G (p.Thr267=) c.798A>G (p.Thr266=) | |
| 19 | g.15191746T>G | CA506078681 | NOTCH3 | c.801A>C (p.Thr267=) c.798A>C (p.Thr266=) | |
| 19 | g.15191747G>A | CA9263792 | NOTCH3 | c.800C>T (p.Thr267Ile) c.797C>T (p.Thr266Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191747G>C | CA404532113 | NOTCH3 | c.800C>G (p.Thr267Arg) c.797C>G (p.Thr266Arg) | |
| 19 | g.15191747G= | CA2324749828 | NOTCH3 | c.800C= (p.Thr267=) c.797C= (p.Thr266=) | |
| 19 | g.15191747G>T | CA404532119 | NOTCH3 | c.800C>A (p.Thr267Lys) c.797C>A (p.Thr266Lys) | |
| 19 | g.15191748T>A | CA404532121 | NOTCH3 | c.799A>T (p.Thr267Ser) c.796A>T (p.Thr266Ser) | |
| 19 | g.15191748T>C | CA404532122 | NOTCH3 | c.799A>G (p.Thr267Ala) c.796A>G (p.Thr266Ala) | |
| 19 | g.15191748T>G | CA404532124 | NOTCH3 | c.799A>C (p.Thr267Pro) c.796A>C (p.Thr266Pro) | |
| 19 | g.15191749C>A | CA404532127 | NOTCH3 | c.798G>T (p.Trp266Cys) c.795G>T (p.Trp265Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15191749C= | CA2324749829 | NOTCH3 | c.798G= (p.Trp266=) c.795G= (p.Trp265=) | |
| 19 | g.15191749C>G | CA404532130 | NOTCH3 | c.798G>C (p.Trp266Cys) c.795G>C (p.Trp265Cys) | |
| 19 | g.15191749C>T | CA404532134 | NOTCH3 | c.798G>A (p.Trp266Ter) c.795G>A (p.Trp265Ter) | |
| 19 | g.15191750C>A | CA404532138 | NOTCH3 | c.797G>T (p.Trp266Leu) c.794G>T (p.Trp265Leu) | |
| 19 | g.15191750C>G | CA404532139 | NOTCH3 | c.797G>C (p.Trp266Ser) c.794G>C (p.Trp265Ser) | |
| 19 | g.15191750C>T | CA404532144 | NOTCH3 | c.797G>A (p.Trp266Ter) c.794G>A (p.Trp265Ter) | dbSNP COSMIC COSMIC |
| 19 | g.15191751A>C | CA404532146 | NOTCH3 | c.796T>G (p.Trp266Gly) c.793T>G (p.Trp265Gly) | |
| 19 | g.15191751A>G | CA404532151 | NOTCH3 | c.796T>C (p.Trp266Arg) c.793T>C (p.Trp265Arg) | |
| 19 | g.15191751A>T | CA404532160 | NOTCH3 | c.796T>A (p.Trp266Arg) c.793T>A (p.Trp265Arg) |