Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.66485045delCA618958608MAP2K1c.749del (p.Gly250AspfsTer5)
c.221del (p.Gly74AspfsTer5)
c.683del (p.Gly228AspfsTer5)
c.671del (p.Gly224AspfsTer5)
c.605del (p.Gly202AspfsTer5)
dbSNP gnomAD
15g.66485044G>ACA392937017MAP2K1c.748G>A (p.Gly250Arg)
c.220G>A (p.Gly74Arg)
c.682G>A (p.Gly228Arg)
c.670G>A (p.Gly224Arg)
c.604G>A (p.Gly202Arg)
15g.66485044G>CCA392937018MAP2K1c.748G>C (p.Gly250Arg)
c.220G>C (p.Gly74Arg)
c.682G>C (p.Gly228Arg)
c.670G>C (p.Gly224Arg)
c.604G>C (p.Gly202Arg)
15g.66485044G>TCA392937020MAP2K1c.748G>T (p.Gly250Ter)
c.220G>T (p.Gly74Ter)
c.682G>T (p.Gly228Ter)
c.670G>T (p.Gly224Ter)
c.604G>T (p.Gly202Ter)
15g.66485045G>ACA392937026MAP2K1c.749G>A (p.Gly250Glu)
c.221G>A (p.Gly74Glu)
c.683G>A (p.Gly228Glu)
c.671G>A (p.Gly224Glu)
c.605G>A (p.Gly202Glu)
15g.66485045G>CCA392937022MAP2K1c.749G>C (p.Gly250Ala)
c.221G>C (p.Gly74Ala)
c.683G>C (p.Gly228Ala)
c.671G>C (p.Gly224Ala)
c.605G>C (p.Gly202Ala)
15g.66485045G>TCA392937024MAP2K1c.749G>T (p.Gly250Val)
c.221G>T (p.Gly74Val)
c.683G>T (p.Gly228Val)
c.671G>T (p.Gly224Val)
c.605G>T (p.Gly202Val)
15g.66485046A>CCA490858484MAP2K1c.750A>C (p.Gly250=)
c.222A>C (p.Gly74=)
c.684A>C (p.Gly228=)
c.672A>C (p.Gly224=)
c.606A>C (p.Gly202=)
15g.66485046A>GCA490858486MAP2K1c.750A>G (p.Gly250=)
c.222A>G (p.Gly74=)
c.684A>G (p.Gly228=)
c.672A>G (p.Gly224=)
c.606A>G (p.Gly202=)
15g.66485046A>TCA490858485MAP2K1c.750A>T (p.Gly250=)
c.222A>T (p.Gly74=)
c.684A>T (p.Gly228=)
c.672A>T (p.Gly224=)
c.606A>T (p.Gly202=)
15g.66485047C>ACA392937028MAP2K1c.751C>A (p.Leu251Met)
c.223C>A (p.Leu75Met)
c.685C>A (p.Leu229Met)
c.673C>A (p.Leu225Met)
c.607C>A (p.Leu203Met)
15g.66485047C>GCA392937029MAP2K1c.751C>G (p.Leu251Val)
c.223C>G (p.Leu75Val)
c.685C>G (p.Leu229Val)
c.673C>G (p.Leu225Val)
c.607C>G (p.Leu203Val)
15g.66485047C>TCA490858487MAP2K1c.751C>T (p.Leu251=)
c.223C>T (p.Leu75=)
c.685C>T (p.Leu229=)
c.673C>T (p.Leu225=)
c.607C>T (p.Leu203=)
15g.66485048T>ACA392937032MAP2K1c.752T>A (p.Leu251Gln)
c.224T>A (p.Leu75Gln)
c.686T>A (p.Leu229Gln)
c.674T>A (p.Leu225Gln)
c.608T>A (p.Leu203Gln)
15g.66485048T>CCA392937034MAP2K1c.752T>C (p.Leu251Pro)
c.224T>C (p.Leu75Pro)
c.686T>C (p.Leu229Pro)
c.674T>C (p.Leu225Pro)
c.608T>C (p.Leu203Pro)
15g.66485048T>GCA392937036MAP2K1c.752T>G (p.Leu251Arg)
c.224T>G (p.Leu75Arg)
c.686T>G (p.Leu229Arg)
c.674T>G (p.Leu225Arg)
c.608T>G (p.Leu203Arg)
15g.66485049G>ACA490858490MAP2K1c.753G>A (p.Leu251=)
c.225G>A (p.Leu75=)
c.687G>A (p.Leu229=)
c.675G>A (p.Leu225=)
c.609G>A (p.Leu203=)
15g.66485049G>CCA490858488MAP2K1c.753G>C (p.Leu251=)
c.225G>C (p.Leu75=)
c.687G>C (p.Leu229=)
c.675G>C (p.Leu225=)
c.609G>C (p.Leu203=)
15g.66485049G>TCA490858489MAP2K1c.753G>T (p.Leu251=)
c.225G>T (p.Leu75=)
c.687G>T (p.Leu229=)
c.675G>T (p.Leu225=)
c.609G>T (p.Leu203=)
15g.66485050T>ACA392937038MAP2K1c.754T>A (p.Ser252Thr)
c.226T>A (p.Ser76Thr)
c.688T>A (p.Ser230Thr)
c.676T>A (p.Ser226Thr)
c.610T>A (p.Ser204Thr)
15g.66485050T>CCA392937042MAP2K1c.754T>C (p.Ser252Pro)
c.226T>C (p.Ser76Pro)
c.688T>C (p.Ser230Pro)
c.676T>C (p.Ser226Pro)
c.610T>C (p.Ser204Pro)
15g.66485050T>GCA392937040MAP2K1c.754T>G (p.Ser252Ala)
c.226T>G (p.Ser76Ala)
c.688T>G (p.Ser230Ala)
c.676T>G (p.Ser226Ala)
c.610T>G (p.Ser204Ala)
15g.66485051C>ACA392937044MAP2K1c.755C>A (p.Ser252Tyr)
c.227C>A (p.Ser76Tyr)
c.689C>A (p.Ser230Tyr)
c.677C>A (p.Ser226Tyr)
c.611C>A (p.Ser204Tyr)
15g.66485051C>GCA392937046MAP2K1c.755C>G (p.Ser252Cys)
c.227C>G (p.Ser76Cys)
c.689C>G (p.Ser230Cys)
c.677C>G (p.Ser226Cys)
c.611C>G (p.Ser204Cys)
15g.66485051C>TCA392937048MAP2K1c.755C>T (p.Ser252Phe)
c.227C>T (p.Ser76Phe)
c.689C>T (p.Ser230Phe)
c.677C>T (p.Ser226Phe)
c.611C>T (p.Ser204Phe)
15g.66485052T>ACA490858492MAP2K1c.756T>A (p.Ser252=)
c.228T>A (p.Ser76=)
c.690T>A (p.Ser230=)
c.678T>A (p.Ser226=)
c.612T>A (p.Ser204=)
15g.66485052T>CCA490858493MAP2K1c.756T>C (p.Ser252=)
c.228T>C (p.Ser76=)
c.690T>C (p.Ser230=)
c.678T>C (p.Ser226=)
c.612T>C (p.Ser204=)
15g.66485052T>GCA490858491MAP2K1c.756T>G (p.Ser252=)
c.228T>G (p.Ser76=)
c.690T>G (p.Ser230=)
c.678T>G (p.Ser226=)
c.612T>G (p.Ser204=)
15g.66485052T=CA2184100006MAP2K1c.756T= (p.Ser252=)
c.228T= (p.Ser76=)
c.690T= (p.Ser230=)
c.678T= (p.Ser226=)
c.612T= (p.Ser204=)
15g.66485053C>ACA392937050MAP2K1c.757C>A (p.Leu253Met)
c.229C>A (p.Leu77Met)
c.691C>A (p.Leu231Met)
c.679C>A (p.Leu227Met)
c.613C>A (p.Leu205Met)
15g.66485053C>GCA392937052MAP2K1c.757C>G (p.Leu253Val)
c.229C>G (p.Leu77Val)
c.691C>G (p.Leu231Val)
c.679C>G (p.Leu227Val)
c.613C>G (p.Leu205Val)
15g.66485053C>TCA490858494MAP2K1c.757C>T (p.Leu253=)
c.229C>T (p.Leu77=)
c.691C>T (p.Leu231=)
c.679C>T (p.Leu227=)
c.613C>T (p.Leu205=)
15g.66485053dupCA970941110MAP2K1c.757dup (p.Leu253ProfsTer?)
c.229dup (p.Leu77ProfsTer?)
c.691dup (p.Leu231ProfsTer?)
c.679dup (p.Leu227ProfsTer?)
c.613dup (p.Leu205ProfsTer?)
dbSNP
15g.66485054T>ACA392937054MAP2K1c.758T>A (p.Leu253Gln)
c.230T>A (p.Leu77Gln)
c.692T>A (p.Leu231Gln)
c.680T>A (p.Leu227Gln)
c.614T>A (p.Leu205Gln)
15g.66485054T>CCA392937056MAP2K1c.758T>C (p.Leu253Pro)
c.230T>C (p.Leu77Pro)
c.692T>C (p.Leu231Pro)
c.680T>C (p.Leu227Pro)
c.614T>C (p.Leu205Pro)
15g.66485054T>GCA392937057MAP2K1c.758T>G (p.Leu253Arg)
c.230T>G (p.Leu77Arg)
c.692T>G (p.Leu231Arg)
c.680T>G (p.Leu227Arg)
c.614T>G (p.Leu205Arg)
15g.66485055G>ACA490858496MAP2K1c.759G>A (p.Leu253=)
c.231G>A (p.Leu77=)
c.693G>A (p.Leu231=)
c.681G>A (p.Leu227=)
c.615G>A (p.Leu205=)
15g.66485055G>CCA490858495MAP2K1c.759G>C (p.Leu253=)
c.231G>C (p.Leu77=)
c.693G>C (p.Leu231=)
c.681G>C (p.Leu227=)
c.615G>C (p.Leu205=)
15g.66485055G>TCA490858497MAP2K1c.759G>T (p.Leu253=)
c.231G>T (p.Leu77=)
c.693G>T (p.Leu231=)
c.681G>T (p.Leu227=)
c.615G>T (p.Leu205=)
15g.66485056G>ACA392937059MAP2K1c.760G>A (p.Val254Ile)
c.232G>A (p.Val78Ile)
c.694G>A (p.Val232Ile)
c.682G>A (p.Val228Ile)
c.616G>A (p.Val206Ile)
15g.66485056G>CCA392937061MAP2K1c.760G>C (p.Val254Leu)
c.232G>C (p.Val78Leu)
c.694G>C (p.Val232Leu)
c.682G>C (p.Val228Leu)
c.616G>C (p.Val206Leu)
15g.66485056G>TCA392937063MAP2K1c.760G>T (p.Val254Leu)
c.232G>T (p.Val78Leu)
c.694G>T (p.Val232Leu)
c.682G>T (p.Val228Leu)
c.616G>T (p.Val206Leu)
15g.66485057T>ACA392937070MAP2K1c.761T>A (p.Val254Glu)
c.233T>A (p.Val78Glu)
c.695T>A (p.Val232Glu)
c.683T>A (p.Val228Glu)
c.617T>A (p.Val206Glu)
15g.66485057T>CCA392937067MAP2K1c.761T>C (p.Val254Ala)
c.233T>C (p.Val78Ala)
c.695T>C (p.Val232Ala)
c.683T>C (p.Val228Ala)
c.617T>C (p.Val206Ala)
15g.66485057T>GCA392937066MAP2K1c.761T>G (p.Val254Gly)
c.233T>G (p.Val78Gly)
c.695T>G (p.Val232Gly)
c.683T>G (p.Val228Gly)
c.617T>G (p.Val206Gly)
15g.66485058A>CCA490858498MAP2K1c.762A>C (p.Val254=)
c.234A>C (p.Val78=)
c.696A>C (p.Val232=)
c.684A>C (p.Val228=)
c.618A>C (p.Val206=)
COSMIC
15g.66485058A>GCA490858500MAP2K1c.762A>G (p.Val254=)
c.234A>G (p.Val78=)
c.696A>G (p.Val232=)
c.684A>G (p.Val228=)
c.618A>G (p.Val206=)
15g.66485058A>TCA490858499MAP2K1c.762A>T (p.Val254=)
c.234A>T (p.Val78=)
c.696A>T (p.Val232=)
c.684A>T (p.Val228=)
c.618A>T (p.Val206=)
15g.66485059G>ACA392937072MAP2K1c.763G>A (p.Glu255Lys)
c.235G>A (p.Glu79Lys)
c.697G>A (p.Glu233Lys)
c.685G>A (p.Glu229Lys)
c.619G>A (p.Glu207Lys)
15g.66485059G>CCA7624014MAP2K1c.763G>C (p.Glu255Gln)
c.235G>C (p.Glu79Gln)
c.697G>C (p.Glu233Gln)
c.685G>C (p.Glu229Gln)
c.619G>C (p.Glu207Gln)
dbSNP ExAC gnomAD

Number of alleles fetched