Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186276176A>GCA112152702F11c.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
4g.186276180T>CCA557396053F11c.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
4g.186276187T>CCA557396054F11c.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
4g.186276189G>CCA3163720F11c.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
4g.186276191T>CCA557396055F11c.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
4g.186276192G>ACA3163721F11c.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
4g.186276194T>ACA1071934773F11c.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
4g.186276194T>GCA557396056F11c.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
4g.186276200G>ACA3163722F11c.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
4g.186276200G>CCA557396057F11c.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
4g.186276203T>ACA1071934776F11c.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
4g.186276203T>CCA557396058F11c.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
4g.186276204C>ACA3163723F11c.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
4g.186276205C>GCA557396059F11c.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
4g.186276212T>CCA649569091F11c.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
4g.186276214G>CCA792308035F11c.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
4g.186276220C>TCA557396093F11c.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
4g.186276221C>ACA557396094F11c.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
4g.186276221C>TCA557396095F11c.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
4g.186276222G>ACA3163724F11c.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
4g.186276222G>CCA557396096F11c.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
4g.186276222_186276233delCA16040944F11c.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
4g.186276223delCA891862640F11c.596-8del (p.=)
c.485+1948del (p.=)
n.948-8del
n.929-8del
c.434-8del (p.=)
n.43-8del
4g.186276224C>ACA3163725F11c.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
4g.186276224C>TCA3163726F11c.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
4g.186276225G>ACA3163727F11c.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
4g.186276226C>TCA3163728F11c.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
4g.186276227G>ACA3163729F11c.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
4g.186276227G>CCA3163730F11c.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
4g.186276227G>TCA645540587F11c.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
4g.186276229A>CCA358959005F11c.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
4g.186276229A>GCA358959006F11c.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
4g.186276229A>TCA358959007F11c.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
4g.186276230G>ACA3163731F11c.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
4g.186276230G>CCA358959008F11c.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
4g.186276230G>TCA358959009F11c.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
4g.186276231C>ACA358959010F11c.596C>A (p.Ala199Asp)
c.485+1956C>A (p.=)
n.948C>A
n.929C>A
c.434C>A (p.Ala145Asp)
n.43C>A
4g.186276231C>GCA358959011F11c.596C>G (p.Ala199Gly)
c.485+1956C>G (p.=)
n.948C>G
n.929C>G
c.434C>G (p.Ala145Gly)
n.43C>G
4g.186276231C>TCA358959012F11c.596C>T (p.Ala199Val)
c.485+1956C>T (p.=)
n.948C>T
n.929C>T
c.434C>T (p.Ala145Val)
n.43C>T
4g.186276232T>ACA442644396F11c.597T>A (p.Ala199=)
c.485+1957T>A (p.=)
n.949T>A
n.930T>A
c.435T>A (p.Ala145=)
n.44T>A
4g.186276232T>CCA442644397F11c.597T>C (p.Ala199=)
c.485+1957T>C (p.=)
n.949T>C
n.930T>C
c.435T>C (p.Ala145=)
n.44T>C
4g.186276232T>GCA442644398F11c.597T>G (p.Ala199=)
c.485+1957T>G (p.=)
n.949T>G
n.930T>G
c.435T>G (p.Ala145=)
n.44T>G
4g.186276233T>ACA358959015F11c.598T>A (p.Cys200Ser)
c.485+1958T>A (p.=)
n.950T>A
n.931T>A
c.436T>A (p.Cys146Ser)
n.45T>A
4g.186276233T>CCA358959013F11c.598T>C (p.Cys200Arg)
c.485+1958T>C (p.=)
n.950T>C
n.931T>C
c.436T>C (p.Cys146Arg)
n.45T>C
4g.186276233T>GCA358959014F11c.598T>G (p.Cys200Gly)
c.485+1958T>G (p.=)
n.950T>G
n.931T>G
c.436T>G (p.Cys146Gly)
n.45T>G
4g.186276234G>ACA3163732F11c.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
4g.186276234G>CCA358959016F11c.599G>C (p.Cys200Ser)
c.485+1959G>C (p.=)
n.951G>C
n.932G>C
c.437G>C (p.Cys146Ser)
n.46G>C
4g.186276234G>TCA358959017F11c.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
4g.186276235T>ACA358959018F11c.600T>A (p.Cys200Ter)
c.485+1960T>A (p.=)
n.952T>A
n.933T>A
c.438T>A (p.Cys146Ter)
n.47T>A
4g.186276235T>CCA442644399F11c.600T>C (p.Cys200=)
c.485+1960T>C (p.=)
n.952T>C
n.933T>C
c.438T>C (p.Cys146=)
n.47T>C

Number of alleles fetched