Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.149569988_149569989delinsATCA1297264268MMADHCc.876_877delinsAT (p.Lys292=)
c.978_979delinsAT (p.Lys326=)
2g.149569989T>ACA348868710MMADHCc.876A>T (p.Lys292Asn)
c.978A>T (p.Lys326Asn)
2g.149569989T>CCA429405855MMADHCc.876A>G (p.Lys292=)
c.978A>G (p.Lys326=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.149569989T>GCA348868711MMADHCc.876A>C (p.Lys292Asn)
c.978A>C (p.Lys326Asn)
2g.149569989T=CA1297264269MMADHCc.876A= (p.Lys292=)
c.978A= (p.Lys326=)
2g.149569991delCA1037732312MMADHCc.876del (p.Lys292AsnfsTer2)
c.978del (p.Lys326AsnfsTer2)
 dbSNP gnomAD v3 gnomAD v4
2g.149569990T>ACA348868712MMADHCc.875A>T (p.Lys292Ile)
c.977A>T (p.Lys326Ile)
2g.149569990T>CCA348868713MMADHCc.875A>G (p.Lys292Arg)
c.977A>G (p.Lys326Arg)
2g.149569990T>GCA348868714MMADHCc.875A>C (p.Lys292Thr)
c.977A>C (p.Lys326Thr)
2g.149569993_149569995dupCA1902245MMADHCc.873_875dup (p.Lys292_Leu293insLys)
c.975_977dup (p.Lys326_Leu327insLys)
 dbSNP ExAC gnomAD v2
2g.149569991T>ACA348868715MMADHCc.874A>T (p.Lys292Ter)
c.976A>T (p.Lys326Ter)
2g.149569991T>CCA348868716MMADHCc.874A>G (p.Lys292Glu)
c.976A>G (p.Lys326Glu)
2g.149569991T>GCA348868717MMADHCc.874A>C (p.Lys292Gln)
c.976A>C (p.Lys326Gln)
2g.149569992C>ACA348868718MMADHCc.873G>T (p.Lys291Asn)
c.975G>T (p.Lys325Asn)
2g.149569992C>GCA348868719MMADHCc.873G>C (p.Lys291Asn)
c.975G>C (p.Lys325Asn)
2g.149569992C>TCA429405857MMADHCc.873G>A (p.Lys291=)
c.975G>A (p.Lys325=)
2g.149569993T>ACA348868721MMADHCc.872A>T (p.Lys291Met)
c.974A>T (p.Lys325Met)
2g.149569993T>CCA348868722MMADHCc.872A>G (p.Lys291Arg)
c.974A>G (p.Lys325Arg)
2g.149569993T>GCA348868720MMADHCc.872A>C (p.Lys291Thr)
c.974A>C (p.Lys325Thr)
2g.149569994T>ACA348868723MMADHCc.871A>T (p.Lys291Ter)
c.973A>T (p.Lys325Ter)
2g.149569994T>CCA348868724MMADHCc.871A>G (p.Lys291Glu)
c.973A>G (p.Lys325Glu)
2g.149569994T>GCA348868725MMADHCc.871A>C (p.Lys291Gln)
c.973A>C (p.Lys325Gln)
2g.149569995C>ACA348868726MMADHCc.870G>T (p.Met290Ile)
c.972G>T (p.Met324Ile)
2g.149569995C>GCA348868727MMADHCc.870G>C (p.Met290Ile)
c.972G>C (p.Met324Ile)
2g.149569995C>TCA348868728MMADHCc.870G>A (p.Met290Ile)
c.972G>A (p.Met324Ile)
 COSMIC
2g.149569996A=CA1297264270MMADHCc.869T= (p.Met290=)
c.971T= (p.Met324=)
2g.149569996A>CCA348868729MMADHCc.869T>G (p.Met290Arg)
c.971T>G (p.Met324Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.149569996A>GCA348868731MMADHCc.869T>C (p.Met290Thr)
c.971T>C (p.Met324Thr)
2g.149569996A>TCA348868730MMADHCc.869T>A (p.Met290Lys)
c.971T>A (p.Met324Lys)
 dbSNP
2g.149569997T>ACA348868732MMADHCc.868A>T (p.Met290Leu)
c.970A>T (p.Met324Leu)
 gnomAD v4
2g.149569997T>CCA348868733MMADHCc.868A>G (p.Met290Val)
c.970A>G (p.Met324Val)
2g.149569997T>GCA348868734MMADHCc.868A>C (p.Met290Leu)
c.970A>C (p.Met324Leu)
2g.149569998A>CCA348868735MMADHCc.867T>G (p.Ile289Met)
c.969T>G (p.Ile323Met)
2g.149569998A>GCA429405859MMADHCc.867T>C (p.Ile289=)
c.969T>C (p.Ile323=)
 gnomAD v4
2g.149569998A>TCA429405858MMADHCc.867T>A (p.Ile289=)
c.969T>A (p.Ile323=)
2g.149569999A>CCA348868741MMADHCc.866T>G (p.Ile289Ser)
c.968T>G (p.Ile323Ser)
2g.149569999A>GCA348868739MMADHCc.866T>C (p.Ile289Thr)
c.968T>C (p.Ile323Thr)
2g.149569999A>TCA348868737MMADHCc.866T>A (p.Ile289Asn)
c.968T>A (p.Ile323Asn)
2g.149570000T>ACA348868744MMADHCc.865A>T (p.Ile289Phe)
c.967A>T (p.Ile323Phe)
2g.149570000T>CCA348868746MMADHCc.865A>G (p.Ile289Val)
c.967A>G (p.Ile323Val)
 dbSNP gnomAD v2 gnomAD v4
2g.149570000T>GCA348868748MMADHCc.865A>C (p.Ile289Leu)
c.967A>C (p.Ile323Leu)
2g.149570000T=CA1297264271MMADHCc.865A= (p.Ile289=)
c.967A= (p.Ile323=)
2g.149570001A>CCA348868750MMADHCc.864T>G (p.His288Gln)
c.966T>G (p.His322Gln)
2g.149570001A>GCA429405860MMADHCc.864T>C (p.His288=)
c.966T>C (p.His322=)
2g.149570001A>TCA348868751MMADHCc.864T>A (p.His288Gln)
c.966T>A (p.His322Gln)
2g.149570002delCA2661422178MMADHCc.863del (p.His288LeufsTer3)
c.965del (p.His322LeufsTer3)
 gnomAD v4
2g.149570002T>ACA348868753MMADHCc.863A>T (p.His288Leu)
c.965A>T (p.His322Leu)
2g.149570002T>CCA348868754MMADHCc.863A>G (p.His288Arg)
c.965A>G (p.His322Arg)
2g.149570002T>GCA348868757MMADHCc.863A>C (p.His288Pro)
c.965A>C (p.His322Pro)
2g.149570003G>ACA348868758MMADHCc.862C>T (p.His288Tyr)
c.964C>T (p.His322Tyr)

Number of alleles fetched