| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186276176A>G | CA112152702 | F11 | c.596-55A>G (p.=) c.485+1901A>G (p.=) n.948-55A>G n.929-55A>G c.434-55A>G (p.=) n.43-55A>G | dbSNP |
| 4 | g.186276180T>C | CA557396053 | F11 | c.596-51T>C (p.=) c.485+1905T>C (p.=) n.948-51T>C n.929-51T>C c.434-51T>C (p.=) n.43-51T>C | gnomAD |
| 4 | g.186276187T>C | CA557396054 | F11 | c.596-44T>C (p.=) c.485+1912T>C (p.=) n.948-44T>C n.929-44T>C c.434-44T>C (p.=) n.43-44T>C | gnomAD |
| 4 | g.186276189G>C | CA3163720 | F11 | c.596-42G>C (p.=) c.485+1914G>C (p.=) n.948-42G>C n.929-42G>C c.434-42G>C (p.=) n.43-42G>C | dbSNP ExAC gnomAD |
| 4 | g.186276191T>C | CA557396055 | F11 | c.596-40T>C (p.=) c.485+1916T>C (p.=) n.948-40T>C n.929-40T>C c.434-40T>C (p.=) n.43-40T>C | gnomAD |
| 4 | g.186276192G>A | CA3163721 | F11 | c.596-39G>A (p.=) c.485+1917G>A (p.=) n.948-39G>A n.929-39G>A c.434-39G>A (p.=) n.43-39G>A | dbSNP ExAC gnomAD |
| 4 | g.186276194T>A | CA1071934773 | F11 | c.596-37T>A (p.=) c.485+1919T>A (p.=) n.948-37T>A n.929-37T>A c.434-37T>A (p.=) n.43-37T>A | |
| 4 | g.186276194T>G | CA557396056 | F11 | c.596-37T>G (p.=) c.485+1919T>G (p.=) n.948-37T>G n.929-37T>G c.434-37T>G (p.=) n.43-37T>G | gnomAD |
| 4 | g.186276200G>A | CA3163722 | F11 | c.596-31G>A (p.=) c.485+1925G>A (p.=) n.948-31G>A n.929-31G>A c.434-31G>A (p.=) n.43-31G>A | dbSNP ExAC gnomAD |
| 4 | g.186276200G>C | CA557396057 | F11 | c.596-31G>C (p.=) c.485+1925G>C (p.=) n.948-31G>C n.929-31G>C c.434-31G>C (p.=) n.43-31G>C | gnomAD |
| 4 | g.186276203T>A | CA1071934776 | F11 | c.596-28T>A (p.=) c.485+1928T>A (p.=) n.948-28T>A n.929-28T>A c.434-28T>A (p.=) n.43-28T>A | |
| 4 | g.186276203T>C | CA557396058 | F11 | c.596-28T>C (p.=) c.485+1928T>C (p.=) n.948-28T>C n.929-28T>C c.434-28T>C (p.=) n.43-28T>C | gnomAD |
| 4 | g.186276204C>A | CA3163723 | F11 | c.596-27C>A (p.=) c.485+1929C>A (p.=) n.948-27C>A n.929-27C>A c.434-27C>A (p.=) n.43-27C>A | dbSNP ExAC gnomAD |
| 4 | g.186276205C>G | CA557396059 | F11 | c.596-26C>G (p.=) c.485+1930C>G (p.=) n.948-26C>G n.929-26C>G c.434-26C>G (p.=) n.43-26C>G | gnomAD |
| 4 | g.186276212T>C | CA649569091 | F11 | c.596-19T>C (p.=) c.485+1937T>C (p.=) n.948-19T>C n.929-19T>C c.434-19T>C (p.=) n.43-19T>C | COSMIC |
| 4 | g.186276214G>C | CA792308035 | F11 | c.596-17G>C (p.=) c.485+1939G>C (p.=) n.948-17G>C n.929-17G>C c.434-17G>C (p.=) n.43-17G>C | |
| 4 | g.186276220C>T | CA557396093 | F11 | c.596-11C>T (p.=) c.485+1945C>T (p.=) n.948-11C>T n.929-11C>T c.434-11C>T (p.=) n.43-11C>T | gnomAD |
| 4 | g.186276221C>A | CA557396094 | F11 | c.596-10C>A (p.=) c.485+1946C>A (p.=) n.948-10C>A n.929-10C>A c.434-10C>A (p.=) n.43-10C>A | gnomAD |
| 4 | g.186276221C>T | CA557396095 | F11 | c.596-10C>T (p.=) c.485+1946C>T (p.=) n.948-10C>T n.929-10C>T c.434-10C>T (p.=) n.43-10C>T | gnomAD |
| 4 | g.186276222G>A | CA3163724 | F11 | c.596-9G>A (p.=) c.485+1947G>A (p.=) n.948-9G>A n.929-9G>A c.434-9G>A (p.=) n.43-9G>A | dbSNP ExAC gnomAD |
| 4 | g.186276222G>C | CA557396096 | F11 | c.596-9G>C (p.=) c.485+1947G>C (p.=) n.948-9G>C n.929-9G>C c.434-9G>C (p.=) n.43-9G>C | gnomAD |
| 4 | g.186276222_186276233del | CA16040944 | F11 | c.596-9_598del c.485+1947_485+1958del (p.=) n.948-9_950del n.929-9_931del c.434-9_436del n.43-9_45del | ClinVar dbSNP |
| 4 | g.186276223del | CA891862640 | F11 | c.596-8del (p.=) c.485+1948del (p.=) n.948-8del n.929-8del c.434-8del (p.=) n.43-8del | |
| 4 | g.186276224C>A | CA3163725 | F11 | c.596-7C>A (p.=) c.485+1949C>A (p.=) n.948-7C>A n.929-7C>A c.434-7C>A (p.=) n.43-7C>A | dbSNP ExAC gnomAD |
| 4 | g.186276224C>T | CA3163726 | F11 | c.596-7C>T (p.=) c.485+1949C>T (p.=) n.948-7C>T n.929-7C>T c.434-7C>T (p.=) n.43-7C>T | dbSNP ExAC gnomAD |
| 4 | g.186276225G>A | CA3163727 | F11 | c.596-6G>A (p.=) c.485+1950G>A (p.=) n.948-6G>A n.929-6G>A c.434-6G>A (p.=) n.43-6G>A | ClinVar dbSNP ExAC gnomAD |
| 4 | g.186276226C>T | CA3163728 | F11 | c.596-5C>T (p.=) c.485+1951C>T (p.=) n.948-5C>T n.929-5C>T c.434-5C>T (p.=) n.43-5C>T | dbSNP ExAC gnomAD |
| 4 | g.186276227G>A | CA3163729 | F11 | c.596-4G>A (p.=) c.485+1952G>A (p.=) n.948-4G>A n.929-4G>A c.434-4G>A (p.=) n.43-4G>A | dbSNP ExAC gnomAD |
| 4 | g.186276227G>C | CA3163730 | F11 | c.596-4G>C (p.=) c.485+1952G>C (p.=) n.948-4G>C n.929-4G>C c.434-4G>C (p.=) n.43-4G>C | dbSNP ExAC gnomAD |
| 4 | g.186276227G>T | CA645540587 | F11 | c.596-4G>T (p.=) c.485+1952G>T (p.=) n.948-4G>T n.929-4G>T c.434-4G>T (p.=) n.43-4G>T | COSMIC COSMIC |
| 4 | g.186276229A>C | CA358959005 | F11 | c.596-2A>C (p.=) c.485+1954A>C (p.=) n.948-2A>C n.929-2A>C c.434-2A>C (p.=) n.43-2A>C | |
| 4 | g.186276229A>G | CA358959006 | F11 | c.596-2A>G (p.=) c.485+1954A>G (p.=) n.948-2A>G n.929-2A>G c.434-2A>G (p.=) n.43-2A>G | |
| 4 | g.186276229A>T | CA358959007 | F11 | c.596-2A>T (p.=) c.485+1954A>T (p.=) n.948-2A>T n.929-2A>T c.434-2A>T (p.=) n.43-2A>T | |
| 4 | g.186276230G>A | CA3163731 | F11 | c.596-1G>A (p.=) c.485+1955G>A (p.=) n.948-1G>A n.929-1G>A c.434-1G>A (p.=) n.43-1G>A | dbSNP ExAC gnomAD COSMIC COSMIC |
| 4 | g.186276230G>C | CA358959008 | F11 | c.596-1G>C (p.=) c.485+1955G>C (p.=) n.948-1G>C n.929-1G>C c.434-1G>C (p.=) n.43-1G>C | |
| 4 | g.186276230G>T | CA358959009 | F11 | c.596-1G>T (p.=) c.485+1955G>T (p.=) n.948-1G>T n.929-1G>T c.434-1G>T (p.=) n.43-1G>T | |
| 4 | g.186276231C>A | CA358959010 | F11 | c.596C>A (p.Ala199Asp) c.485+1956C>A (p.=) n.948C>A n.929C>A c.434C>A (p.Ala145Asp) n.43C>A | |
| 4 | g.186276231C>G | CA358959011 | F11 | c.596C>G (p.Ala199Gly) c.485+1956C>G (p.=) n.948C>G n.929C>G c.434C>G (p.Ala145Gly) n.43C>G | |
| 4 | g.186276231C>T | CA358959012 | F11 | c.596C>T (p.Ala199Val) c.485+1956C>T (p.=) n.948C>T n.929C>T c.434C>T (p.Ala145Val) n.43C>T | |
| 4 | g.186276232T>A | CA442644396 | F11 | c.597T>A (p.Ala199=) c.485+1957T>A (p.=) n.949T>A n.930T>A c.435T>A (p.Ala145=) n.44T>A | |
| 4 | g.186276232T>C | CA442644397 | F11 | c.597T>C (p.Ala199=) c.485+1957T>C (p.=) n.949T>C n.930T>C c.435T>C (p.Ala145=) n.44T>C | |
| 4 | g.186276232T>G | CA442644398 | F11 | c.597T>G (p.Ala199=) c.485+1957T>G (p.=) n.949T>G n.930T>G c.435T>G (p.Ala145=) n.44T>G | |
| 4 | g.186276233T>A | CA358959015 | F11 | c.598T>A (p.Cys200Ser) c.485+1958T>A (p.=) n.950T>A n.931T>A c.436T>A (p.Cys146Ser) n.45T>A | |
| 4 | g.186276233T>C | CA358959013 | F11 | c.598T>C (p.Cys200Arg) c.485+1958T>C (p.=) n.950T>C n.931T>C c.436T>C (p.Cys146Arg) n.45T>C | |
| 4 | g.186276233T>G | CA358959014 | F11 | c.598T>G (p.Cys200Gly) c.485+1958T>G (p.=) n.950T>G n.931T>G c.436T>G (p.Cys146Gly) n.45T>G | |
| 4 | g.186276234G>A | CA3163732 | F11 | c.599G>A (p.Cys200Tyr) c.485+1959G>A (p.=) n.951G>A n.932G>A c.437G>A (p.Cys146Tyr) n.46G>A | ClinVar dbSNP ExAC gnomAD |
| 4 | g.186276234G>C | CA358959016 | F11 | c.599G>C (p.Cys200Ser) c.485+1959G>C (p.=) n.951G>C n.932G>C c.437G>C (p.Cys146Ser) n.46G>C | |
| 4 | g.186276234G>T | CA358959017 | F11 | c.599G>T (p.Cys200Phe) c.485+1959G>T (p.=) n.951G>T n.932G>T c.437G>T (p.Cys146Phe) n.46G>T | COSMIC COSMIC |
| 4 | g.186276235T>A | CA358959018 | F11 | c.600T>A (p.Cys200Ter) c.485+1960T>A (p.=) n.952T>A n.933T>A c.438T>A (p.Cys146Ter) n.47T>A | |
| 4 | g.186276235T>C | CA442644399 | F11 | c.600T>C (p.Cys200=) c.485+1960T>C (p.=) n.952T>C n.933T>C c.438T>C (p.Cys146=) n.47T>C |