Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.149569993_149569995dupCA1902245MMADHCc.873_875dup (p.Lys292_Leu293insLys)
c.975_977dup (p.Lys326_Leu327insLys)
 dbSNP ExAC gnomAD v2
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=)
 ClinVar
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)
2g.149570003G>CCA1902246MMADHCc.862C>G (p.His288Asp)
c.964C>G (p.His322Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570003G=CA1297264272MMADHCc.862C= (p.His288=)
c.964C= (p.His322=)
2g.149570003G>TCA348868761MMADHCc.862C>A (p.His288Asn)
c.964C>A (p.His322Asn)
2g.149570004G>ACA429405861MMADHCc.861C>T (p.Ser287=)
c.963C>T (p.Ser321=)
 gnomAD v4
2g.149570004G>CCA348868765MMADHCc.861C>G (p.Ser287Arg)
c.963C>G (p.Ser321Arg)
2g.149570004G>TCA348868768MMADHCc.861C>A (p.Ser287Arg)
c.963C>A (p.Ser321Arg)
2g.149570005C>ACA1902247MMADHCc.860G>T (p.Ser287Ile)
c.962G>T (p.Ser321Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570005C=CA1297264273MMADHCc.860G= (p.Ser287=)
c.962G= (p.Ser321=)
2g.149570005C>GCA348868770MMADHCc.860G>C (p.Ser287Thr)
c.962G>C (p.Ser321Thr)
2g.149570005C>TCA348868773MMADHCc.860G>A (p.Ser287Asn)
c.962G>A (p.Ser321Asn)
 dbSNP
2g.149570006T>ACA348868775MMADHCc.859A>T (p.Ser287Cys)
c.961A>T (p.Ser321Cys)
2g.149570006T>CCA348868776MMADHCc.859A>G (p.Ser287Gly)
c.961A>G (p.Ser321Gly)
2g.149570006T>GCA348868777MMADHCc.859A>C (p.Ser287Arg)
c.961A>C (p.Ser321Arg)
2g.149570007G>ACA429405862MMADHCc.858C>T (p.Asp286=)
c.960C>T (p.Asp320=)
2g.149570007G>CCA348868778MMADHCc.858C>G (p.Asp286Glu)
c.960C>G (p.Asp320Glu)
2g.149570007G>TCA348868779MMADHCc.858C>A (p.Asp286Glu)
c.960C>A (p.Asp320Glu)
2g.149570008T>ACA348868782MMADHCc.857A>T (p.Asp286Val)
c.959A>T (p.Asp320Val)
2g.149570008T>CCA348868783MMADHCc.857A>G (p.Asp286Gly)
c.959A>G (p.Asp320Gly)
 gnomAD v4
2g.149570008T>GCA348868785MMADHCc.857A>C (p.Asp286Ala)
c.959A>C (p.Asp320Ala)
 ClinVar dbSNP
2g.149570008T=CA1297264274MMADHCc.857A= (p.Asp286=)
c.959A= (p.Asp320=)
2g.149570009C>ACA348868788MMADHCc.856G>T (p.Asp286Tyr)
c.958G>T (p.Asp320Tyr)

Number of alleles fetched