Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.66485090_66485156dupCA1139664038MAP2K1c.794_860dup (p.Pro288SerfsTer20)
c.266_332dup (p.Pro112SerfsTer20)
c.728_794dup (p.Pro266SerfsTer20)
c.716_782dup (p.Pro262SerfsTer20)
c.650_716dup (p.Pro240SerfsTer20)
ClinVar dbSNP
15g.66485144C>ACA392937351MAP2K1c.848C>A (p.Ala283Glu)
c.320C>A (p.Ala107Glu)
c.782C>A (p.Ala261Glu)
c.770C>A (p.Ala257Glu)
c.704C>A (p.Ala235Glu)
15g.66485144C=CA2184100097MAP2K1c.848C= (p.Ala283=)
c.320C= (p.Ala107=)
c.782C= (p.Ala261=)
c.770C= (p.Ala257=)
c.704C= (p.Ala235=)
15g.66485144C>GCA392937352MAP2K1c.848C>G (p.Ala283Gly)
c.320C>G (p.Ala107Gly)
c.782C>G (p.Ala261Gly)
c.770C>G (p.Ala257Gly)
c.704C>G (p.Ala235Gly)
15g.66485144C>TCA134622MAP2K1c.848C>T (p.Ala283Val)
c.320C>T (p.Ala107Val)
c.782C>T (p.Ala261Val)
c.770C>T (p.Ala257Val)
c.704C>T (p.Ala235Val)
ClinVar dbSNP ExAC gnomAD
15g.66485145G>ACA490858550MAP2K1c.849G>A (p.Ala283=)
c.321G>A (p.Ala107=)
c.783G>A (p.Ala261=)
c.771G>A (p.Ala257=)
c.705G>A (p.Ala235=)
gnomAD
15g.66485145G>CCA490858552MAP2K1c.849G>C (p.Ala283=)
c.321G>C (p.Ala107=)
c.783G>C (p.Ala261=)
c.771G>C (p.Ala257=)
c.705G>C (p.Ala235=)
15g.66485145G=CA2184100099MAP2K1c.849G= (p.Ala283=)
c.321G= (p.Ala107=)
c.783G= (p.Ala261=)
c.771G= (p.Ala257=)
c.705G= (p.Ala235=)
15g.66485145G>TCA490858551MAP2K1c.849G>T (p.Ala283=)
c.321G>T (p.Ala107=)
c.783G>T (p.Ala261=)
c.771G>T (p.Ala257=)
c.705G>T (p.Ala235=)
15g.66485146G>ACA392937353MAP2K1c.850G>A (p.Ala284Thr)
c.322G>A (p.Ala108Thr)
c.784G>A (p.Ala262Thr)
c.772G>A (p.Ala258Thr)
c.706G>A (p.Ala236Thr)
15g.66485146G>CCA392937354MAP2K1c.850G>C (p.Ala284Pro)
c.322G>C (p.Ala108Pro)
c.784G>C (p.Ala262Pro)
c.772G>C (p.Ala258Pro)
c.706G>C (p.Ala236Pro)
15g.66485146G>TCA392937355MAP2K1c.850G>T (p.Ala284Ser)
c.322G>T (p.Ala108Ser)
c.784G>T (p.Ala262Ser)
c.772G>T (p.Ala258Ser)
c.706G>T (p.Ala236Ser)
15g.66485147C>ACA392937358MAP2K1c.851C>A (p.Ala284Asp)
c.323C>A (p.Ala108Asp)
c.785C>A (p.Ala262Asp)
c.773C>A (p.Ala258Asp)
c.707C>A (p.Ala236Asp)
gnomAD
15g.66485147C=CA2184100101MAP2K1c.851C= (p.Ala284=)
c.323C= (p.Ala108=)
c.785C= (p.Ala262=)
c.773C= (p.Ala258=)
c.707C= (p.Ala236=)
15g.66485147C>GCA392937356MAP2K1c.851C>G (p.Ala284Gly)
c.323C>G (p.Ala108Gly)
c.785C>G (p.Ala262Gly)
c.773C>G (p.Ala258Gly)
c.707C>G (p.Ala236Gly)
15g.66485147C>TCA392937357MAP2K1c.851C>T (p.Ala284Val)
c.323C>T (p.Ala108Val)
c.785C>T (p.Ala262Val)
c.773C>T (p.Ala258Val)
c.707C>T (p.Ala236Val)
15g.66485148T>ACA490858554MAP2K1c.852T>A (p.Ala284=)
c.324T>A (p.Ala108=)
c.786T>A (p.Ala262=)
c.774T>A (p.Ala258=)
c.708T>A (p.Ala236=)
15g.66485148T>CCA490858555MAP2K1c.852T>C (p.Ala284=)
c.324T>C (p.Ala108=)
c.786T>C (p.Ala262=)
c.774T>C (p.Ala258=)
c.708T>C (p.Ala236=)
15g.66485148T>GCA490858553MAP2K1c.852T>G (p.Ala284=)
c.324T>G (p.Ala108=)
c.786T>G (p.Ala262=)
c.774T>G (p.Ala258=)
c.708T>G (p.Ala236=)
15g.66485148T=CA2184100106MAP2K1c.852T= (p.Ala284=)
c.324T= (p.Ala108=)
c.786T= (p.Ala262=)
c.774T= (p.Ala258=)
c.708T= (p.Ala236=)
15g.66485148_66485177delinsTGAGACCCCACCCAGGCCAAGGACCCCCGGCA2184100105MAP2K1c.852_881delinsTGAGACCCCACCCAGGCCAAGGACCCCCGG (p.Ala284=)
c.324_353delinsTGAGACCCCACCCAGGCCAAGGACCCCCGG (p.Ala108=)
c.786_815delinsTGAGACCCCACCCAGGCCAAGGACCCCCGG (p.Ala262=)
c.774_803delinsTGAGACCCCACCCAGGCCAAGGACCCCCGG (p.Ala258=)
c.708_737delinsTGAGACCCCACCCAGGCCAAGGACCCCCGG (p.Ala236=)
15g.66485149G>ACA392937359MAP2K1c.853G>A (p.Glu285Lys)
c.325G>A (p.Glu109Lys)
c.787G>A (p.Glu263Lys)
c.775G>A (p.Glu259Lys)
c.709G>A (p.Glu237Lys)
ClinVar
15g.66485149G>CCA392937360MAP2K1c.853G>C (p.Glu285Gln)
c.325G>C (p.Glu109Gln)
c.787G>C (p.Glu263Gln)
c.775G>C (p.Glu259Gln)
c.709G>C (p.Glu237Gln)
15g.66485149G=CA2184100110MAP2K1c.853G= (p.Glu285=)
c.325G= (p.Glu109=)
c.787G= (p.Glu263=)
c.775G= (p.Glu259=)
c.709G= (p.Glu237=)
15g.66485149G>TCA392937361MAP2K1c.853G>T (p.Glu285Ter)
c.325G>T (p.Glu109Ter)
c.787G>T (p.Glu263Ter)
c.775G>T (p.Glu259Ter)
c.709G>T (p.Glu237Ter)
15g.66485152_66485180delCA618958609MAP2K1c.856_884del (p.Thr286AlafsTer3)
c.328_356del (p.Thr110AlafsTer3)
c.790_818del (p.Thr264AlafsTer3)
c.778_806del (p.Thr260AlafsTer3)
c.712_740del (p.Thr238AlafsTer3)
dbSNP gnomAD
15g.66485150A>CCA392937362MAP2K1c.854A>C (p.Glu285Ala)
c.326A>C (p.Glu109Ala)
c.788A>C (p.Glu263Ala)
c.776A>C (p.Glu259Ala)
c.710A>C (p.Glu237Ala)
15g.66485150A>GCA392937363MAP2K1c.854A>G (p.Glu285Gly)
c.326A>G (p.Glu109Gly)
c.788A>G (p.Glu263Gly)
c.776A>G (p.Glu259Gly)
c.710A>G (p.Glu237Gly)
15g.66485150A>TCA392937364MAP2K1c.854A>T (p.Glu285Val)
c.326A>T (p.Glu109Val)
c.788A>T (p.Glu263Val)
c.776A>T (p.Glu259Val)
c.710A>T (p.Glu237Val)
15g.66485151G>ACA490858556MAP2K1c.855G>A (p.Glu285=)
c.327G>A (p.Glu109=)
c.789G>A (p.Glu263=)
c.777G>A (p.Glu259=)
c.711G>A (p.Glu237=)
15g.66485151G>CCA392937365MAP2K1c.855G>C (p.Glu285Asp)
c.327G>C (p.Glu109Asp)
c.789G>C (p.Glu263Asp)
c.777G>C (p.Glu259Asp)
c.711G>C (p.Glu237Asp)
15g.66485151G>TCA392937366MAP2K1c.855G>T (p.Glu285Asp)
c.327G>T (p.Glu109Asp)
c.789G>T (p.Glu263Asp)
c.777G>T (p.Glu259Asp)
c.711G>T (p.Glu237Asp)
15g.66485152A>CCA392937367MAP2K1c.856A>C (p.Thr286Pro)
c.328A>C (p.Thr110Pro)
c.790A>C (p.Thr264Pro)
c.778A>C (p.Thr260Pro)
c.712A>C (p.Thr238Pro)
15g.66485152A>GCA392937368MAP2K1c.856A>G (p.Thr286Ala)
c.328A>G (p.Thr110Ala)
c.790A>G (p.Thr264Ala)
c.778A>G (p.Thr260Ala)
c.712A>G (p.Thr238Ala)
15g.66485152A>TCA392937369MAP2K1c.856A>T (p.Thr286Ser)
c.328A>T (p.Thr110Ser)
c.790A>T (p.Thr264Ser)
c.778A>T (p.Thr260Ser)
c.712A>T (p.Thr238Ser)
15g.66485153C>ACA392937371MAP2K1c.857C>A (p.Thr286Asn)
c.329C>A (p.Thr110Asn)
c.791C>A (p.Thr264Asn)
c.779C>A (p.Thr260Asn)
c.713C>A (p.Thr238Asn)
15g.66485153C>GCA392937372MAP2K1c.857C>G (p.Thr286Ser)
c.329C>G (p.Thr110Ser)
c.791C>G (p.Thr264Ser)
c.779C>G (p.Thr260Ser)
c.713C>G (p.Thr238Ser)
15g.66485153C>TCA392937370MAP2K1c.857C>T (p.Thr286Ile)
c.329C>T (p.Thr110Ile)
c.791C>T (p.Thr264Ile)
c.779C>T (p.Thr260Ile)
c.713C>T (p.Thr238Ile)
15g.66485154C>ACA490858557MAP2K1c.858C>A (p.Thr286=)
c.330C>A (p.Thr110=)
c.792C>A (p.Thr264=)
c.780C>A (p.Thr260=)
c.714C>A (p.Thr238=)
15g.66485154C>GCA490858559MAP2K1c.858C>G (p.Thr286=)
c.330C>G (p.Thr110=)
c.792C>G (p.Thr264=)
c.780C>G (p.Thr260=)
c.714C>G (p.Thr238=)
15g.66485154C>TCA490858558MAP2K1c.858C>T (p.Thr286=)
c.330C>T (p.Thr110=)
c.792C>T (p.Thr264=)
c.780C>T (p.Thr260=)
c.714C>T (p.Thr238=)
15g.66485155C>ACA392937373MAP2K1c.859C>A (p.Pro287Thr)
c.331C>A (p.Pro111Thr)
c.793C>A (p.Pro265Thr)
c.781C>A (p.Pro261Thr)
c.715C>A (p.Pro239Thr)
15g.66485155C>GCA392937374MAP2K1c.859C>G (p.Pro287Ala)
c.331C>G (p.Pro111Ala)
c.793C>G (p.Pro265Ala)
c.781C>G (p.Pro261Ala)
c.715C>G (p.Pro239Ala)
15g.66485155C>TCA392937375MAP2K1c.859C>T (p.Pro287Ser)
c.331C>T (p.Pro111Ser)
c.793C>T (p.Pro265Ser)
c.781C>T (p.Pro261Ser)
c.715C>T (p.Pro239Ser)
15g.66485156C>ACA392937376MAP2K1c.860C>A (p.Pro287Gln)
c.332C>A (p.Pro111Gln)
c.794C>A (p.Pro265Gln)
c.782C>A (p.Pro261Gln)
c.716C>A (p.Pro239Gln)
15g.66485156C>GCA392937377MAP2K1c.860C>G (p.Pro287Arg)
c.332C>G (p.Pro111Arg)
c.794C>G (p.Pro265Arg)
c.782C>G (p.Pro261Arg)
c.716C>G (p.Pro239Arg)
15g.66485156C>TCA392937378MAP2K1c.860C>T (p.Pro287Leu)
c.332C>T (p.Pro111Leu)
c.794C>T (p.Pro265Leu)
c.782C>T (p.Pro261Leu)
c.716C>T (p.Pro239Leu)
15g.66485157A=CA2184100112MAP2K1c.861A= (p.Pro287=)
c.333A= (p.Pro111=)
c.795A= (p.Pro265=)
c.783A= (p.Pro261=)
c.717A= (p.Pro239=)
15g.66485157A>CCA271674148MAP2K1c.861A>C (p.Pro287=)
c.333A>C (p.Pro111=)
c.795A>C (p.Pro265=)
c.783A>C (p.Pro261=)
c.717A>C (p.Pro239=)
dbSNP
15g.66485157A>GCA490858561MAP2K1c.861A>G (p.Pro287=)
c.333A>G (p.Pro111=)
c.795A>G (p.Pro265=)
c.783A>G (p.Pro261=)
c.717A>G (p.Pro239=)

Number of alleles fetched