Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99583507T>ACA357502467MTTPc.383T>A (p.Ile128Asn)
c.134T>A (p.Ile45Asn)
c.413T>A (p.Ile138Asn)
c.464T>A (p.Ile155Asn)
4g.99583507T>CCA123823MTTPc.383T>C (p.Ile128Thr)
c.134T>C (p.Ile45Thr)
c.413T>C (p.Ile138Thr)
c.464T>C (p.Ile155Thr)
ClinVar dbSNP ExAC gnomAD
4g.99583507T>GCA357502468MTTPc.383T>G (p.Ile128Ser)
c.134T>G (p.Ile45Ser)
c.413T>G (p.Ile138Ser)
c.464T>G (p.Ile155Ser)
4g.99583507T=CA1480066755MTTPc.383T= (p.Ile128=)
c.134T= (p.Ile45=)
c.413T= (p.Ile138=)
c.464T= (p.Ile155=)
4g.99583508C>ACA440328657MTTPc.384C>A (p.Ile128=)
c.135C>A (p.Ile45=)
c.414C>A (p.Ile138=)
c.465C>A (p.Ile155=)
4g.99583508C>GCA357502469MTTPc.384C>G (p.Ile128Met)
c.135C>G (p.Ile45Met)
c.414C>G (p.Ile138Met)
c.465C>G (p.Ile155Met)
4g.99583508C>TCA440328658MTTPc.384C>T (p.Ile128=)
c.135C>T (p.Ile45=)
c.414C>T (p.Ile138=)
c.465C>T (p.Ile155=)
4g.99583509C>ACA357502470MTTPc.385C>A (p.His129Asn)
c.136C>A (p.His46Asn)
c.415C>A (p.His139Asn)
c.466C>A (p.His156Asn)
4g.99583509C=CA1480066756MTTPc.385C= (p.His129=)
c.136C= (p.His46=)
c.415C= (p.His139=)
c.466C= (p.His156=)
4g.99583509C>GCA357502472MTTPc.385C>G (p.His129Asp)
c.136C>G (p.His46Asp)
c.415C>G (p.His139Asp)
c.466C>G (p.His156Asp)
gnomAD
4g.99583509C>TCA357502471MTTPc.385C>T (p.His129Tyr)
c.136C>T (p.His46Tyr)
c.415C>T (p.His139Tyr)
c.466C>T (p.His156Tyr)
4g.99583510A>CCA357502473MTTPc.386A>C (p.His129Pro)
c.137A>C (p.His46Pro)
c.416A>C (p.His139Pro)
c.467A>C (p.His156Pro)
4g.99583510A>GCA357502474MTTPc.386A>G (p.His129Arg)
c.137A>G (p.His46Arg)
c.416A>G (p.His139Arg)
c.467A>G (p.His156Arg)
4g.99583510A>TCA357502475MTTPc.386A>T (p.His129Leu)
c.137A>T (p.His46Leu)
c.416A>T (p.His139Leu)
c.467A>T (p.His156Leu)
4g.99583511T>ACA357502476MTTPc.387T>A (p.His129Gln)
c.138T>A (p.His46Gln)
c.417T>A (p.His139Gln)
c.468T>A (p.His156Gln)
4g.99583511T>CCA440328659MTTPc.387T>C (p.His129=)
c.138T>C (p.His46=)
c.417T>C (p.His139=)
c.468T>C (p.His156=)
ClinVar
4g.99583511T>GCA357502477MTTPc.387T>G (p.His129Gln)
c.138T>G (p.His46Gln)
c.417T>G (p.His139Gln)
c.468T>G (p.His156Gln)
4g.99583512G>ACA357502478MTTPc.388G>A (p.Gly130Arg)
c.139G>A (p.Gly47Arg)
c.418G>A (p.Gly140Arg)
c.469G>A (p.Gly157Arg)
4g.99583512G>CCA357502479MTTPc.388G>C (p.Gly130Arg)
c.139G>C (p.Gly47Arg)
c.418G>C (p.Gly140Arg)
c.469G>C (p.Gly157Arg)
4g.99583512G>TCA357502480MTTPc.388G>T (p.Gly130Ter)
c.139G>T (p.Gly47Ter)
c.418G>T (p.Gly140Ter)
c.469G>T (p.Gly157Ter)
4g.99583513G>ACA357502481MTTPc.389G>A (p.Gly130Glu)
c.140G>A (p.Gly47Glu)
c.419G>A (p.Gly140Glu)
c.470G>A (p.Gly157Glu)
COSMIC
4g.99583513G>CCA357502482MTTPc.389G>C (p.Gly130Ala)
c.140G>C (p.Gly47Ala)
c.419G>C (p.Gly140Ala)
c.470G>C (p.Gly157Ala)
4g.99583513G=CA1480066757MTTPc.389G= (p.Gly130=)
c.140G= (p.Gly47=)
c.419G= (p.Gly140=)
c.470G= (p.Gly157=)
4g.99583513G>TCA357502483MTTPc.389G>T (p.Gly130Val)
c.140G>T (p.Gly47Val)
c.419G>T (p.Gly140Val)
c.470G>T (p.Gly157Val)
4g.99583514A>CCA440328660MTTPc.390A>C (p.Gly130=)
c.141A>C (p.Gly47=)
c.420A>C (p.Gly140=)
c.471A>C (p.Gly157=)
4g.99583514A>GCA440328661MTTPc.390A>G (p.Gly130=)
c.141A>G (p.Gly47=)
c.420A>G (p.Gly140=)
c.471A>G (p.Gly157=)
4g.99583514A>TCA440328662MTTPc.390A>T (p.Gly130=)
c.141A>T (p.Gly47=)
c.420A>T (p.Gly140=)
c.471A>T (p.Gly157=)
4g.99583515A>CCA357502486MTTPc.391A>C (p.Lys131Gln)
c.142A>C (p.Lys48Gln)
c.421A>C (p.Lys141Gln)
c.472A>C (p.Lys158Gln)
4g.99583515A>GCA357502485MTTPc.391A>G (p.Lys131Glu)
c.142A>G (p.Lys48Glu)
c.421A>G (p.Lys141Glu)
c.472A>G (p.Lys158Glu)
4g.99583515A>TCA357502484MTTPc.391A>T (p.Lys131Ter)
c.142A>T (p.Lys48Ter)
c.421A>T (p.Lys141Ter)
c.472A>T (p.Lys158Ter)
4g.99583516A>CCA357502487MTTPc.392A>C (p.Lys131Thr)
c.143A>C (p.Lys48Thr)
c.422A>C (p.Lys141Thr)
c.473A>C (p.Lys158Thr)
4g.99583516A>GCA357502488MTTPc.392A>G (p.Lys131Arg)
c.143A>G (p.Lys48Arg)
c.422A>G (p.Lys141Arg)
c.473A>G (p.Lys158Arg)
4g.99583516A>TCA357502489MTTPc.392A>T (p.Lys131Met)
c.143A>T (p.Lys48Met)
c.422A>T (p.Lys141Met)
c.473A>T (p.Lys158Met)
4g.99583517G>ACA440328663MTTPc.393G>A (p.Lys131=)
c.144G>A (p.Lys48=)
c.423G>A (p.Lys141=)
c.474G>A (p.Lys158=)
4g.99583517G>CCA357502490MTTPc.393G>C (p.Lys131Asn)
c.144G>C (p.Lys48Asn)
c.423G>C (p.Lys141Asn)
c.474G>C (p.Lys158Asn)
4g.99583517G>TCA357502491MTTPc.393G>T (p.Lys131Asn)
c.144G>T (p.Lys48Asn)
c.423G>T (p.Lys141Asn)
c.474G>T (p.Lys158Asn)
COSMIC
4g.99583518G>ACA357502494MTTPc.393+1G>A (n.393+1G>A)
c.144+1G>A (n.144+1G>A)
c.394G>A (p.Val132Ile)
c.423+1G>A (n.423+1G>A)
c.474+1G>A (n.474+1G>A)
4g.99583518G>CCA357502493MTTPc.393+1G>C (n.393+1G>C)
c.144+1G>C (n.144+1G>C)
c.394G>C (p.Val132Leu)
c.423+1G>C (n.423+1G>C)
c.474+1G>C (n.474+1G>C)
4g.99583518G>TCA357502492MTTPc.393+1G>T (n.393+1G>T)
c.144+1G>T (n.144+1G>T)
c.394G>T (p.Val132Leu)
c.423+1G>T (n.423+1G>T)
c.474+1G>T (n.474+1G>T)
4g.99583519T>ACA357502495MTTPc.393+2T>A (n.393+2T>A)
c.144+2T>A (n.144+2T>A)
c.395T>A (p.Val132Glu)
c.423+2T>A (n.423+2T>A)
c.474+2T>A (n.474+2T>A)
4g.99583519T>CCA357502496MTTPc.393+2T>C (n.393+2T>C)
c.144+2T>C (n.144+2T>C)
c.395T>C (p.Val132Ala)
c.423+2T>C (n.423+2T>C)
c.474+2T>C (n.474+2T>C)
4g.99583519T>GCA357502497MTTPc.393+2T>G (n.393+2T>G)
c.144+2T>G (n.144+2T>G)
c.395T>G (p.Val132Gly)
c.423+2T>G (n.423+2T>G)
c.474+2T>G (n.474+2T>G)
4g.99583521A=CA1480066758MTTPc.393+4A= (n.393+4A=)
c.144+4A= (n.144+4A=)
c.397A= (p.Lys133=)
c.423+4A= (n.423+4A=)
c.474+4A= (n.474+4A=)
4g.99583521A>CCA357502498MTTPc.393+4A>C (n.393+4A>C)
c.144+4A>C (n.144+4A>C)
c.397A>C (p.Lys133Gln)
c.423+4A>C (n.423+4A>C)
c.474+4A>C (n.474+4A>C)
4g.99583521A>GCA357502499MTTPc.393+4A>G (n.393+4A>G)
c.144+4A>G (n.144+4A>G)
c.397A>G (p.Lys133Glu)
c.423+4A>G (n.423+4A>G)
c.474+4A>G (n.474+4A>G)
gnomAD
4g.99583521A>TCA357502500MTTPc.393+4A>T (n.393+4A>T)
c.144+4A>T (n.144+4A>T)
c.397A>T (p.Lys133Ter)
c.423+4A>T (n.423+4A>T)
c.474+4A>T (n.474+4A>T)
4g.99583522A=CA1480066759MTTPc.393+5A= (n.393+5A=)
c.144+5A= (n.144+5A=)
c.398A= (p.Lys133=)
c.423+5A= (n.423+5A=)
c.474+5A= (n.474+5A=)
4g.99583522A>CCA357502502MTTPc.393+5A>C (n.393+5A>C)
c.144+5A>C (n.144+5A>C)
c.398A>C (p.Lys133Thr)
c.423+5A>C (n.423+5A>C)
c.474+5A>C (n.474+5A>C)
4g.99583522A>GCA3021812MTTPc.393+5A>G (n.393+5A>G)
c.144+5A>G (n.144+5A>G)
c.398A>G (p.Lys133Arg)
c.423+5A>G (n.423+5A>G)
c.474+5A>G (n.474+5A>G)
ClinVar dbSNP ExAC gnomAD
4g.99583522A>TCA357502501MTTPc.393+5A>T (n.393+5A>T)
c.144+5A>T (n.144+5A>T)
c.398A>T (p.Lys133Met)
c.423+5A>T (n.423+5A>T)
c.474+5A>T (n.474+5A>T)

Number of alleles fetched