Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.149569973_149569975delCA1297264261MMADHCc.*1_*3del (n.*1_*3del)
 dbSNP
2g.149569974C>ACA348868675MMADHCc.891G>T (p.Ter297Tyr)
c.993G>T (p.Ter331Tyr)
2g.149569974C>GCA348868676MMADHCc.891G>C (p.Ter297Tyr)
c.993G>C (p.Ter331Tyr)
2g.149569974C>TCA429405848MMADHCc.891G>A (p.Ter297=)
c.993G>A (p.Ter331=)
 ClinVar gnomAD v4
2g.149569975T>ACA348868678MMADHCc.890A>T (p.Ter297Leu)
c.992A>T (p.Ter331Leu)
2g.149569975T>CCA348868679MMADHCc.890A>G (p.Ter297Trp)
c.992A>G (p.Ter331Trp)
2g.149569975T>GCA348868677MMADHCc.890A>C (p.Ter297Ser)
c.992A>C (p.Ter331Ser)
2g.149569976A=CA1297264264MMADHCc.889T= (p.Ter297=)
c.991T= (p.Ter331=)
2g.149569976A>CCA348868680MMADHCc.889T>G (p.Ter297Glu)
c.991T>G (p.Ter331Glu)
2g.149569976A>GCA1902242MMADHCc.889T>C (p.Ter297Gln)
c.991T>C (p.Ter331Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149569976A>TCA348868681MMADHCc.889T>A (p.Ter297Lys)
c.991T>A (p.Ter331Lys)
2g.149569977A>CCA348868682MMADHCc.888T>G (p.Asn296Lys)
c.990T>G (p.Asn330Lys)
2g.149569977A>GCA429405849MMADHCc.888T>C (p.Asn296=)
c.990T>C (p.Asn330=)
2g.149569977A>TCA348868683MMADHCc.888T>A (p.Asn296Lys)
c.990T>A (p.Asn330Lys)
2g.149569978T>ACA348868684MMADHCc.887A>T (p.Asn296Ile)
c.989A>T (p.Asn330Ile)
2g.149569978T>CCA348868685MMADHCc.887A>G (p.Asn296Ser)
c.989A>G (p.Asn330Ser)
2g.149569978T>GCA348868686MMADHCc.887A>C (p.Asn296Thr)
c.989A>C (p.Asn330Thr)
2g.149569979T>ACA348868687MMADHCc.886A>T (p.Asn296Tyr)
c.988A>T (p.Asn330Tyr)
2g.149569979T>CCA348868688MMADHCc.886A>G (p.Asn296Asp)
c.988A>G (p.Asn330Asp)
2g.149569979T>GCA348868689MMADHCc.886A>C (p.Asn296His)
c.988A>C (p.Asn330His)
2g.149569980T>ACA429405850MMADHCc.885A>T (p.Gly295=)
c.987A>T (p.Gly329=)
2g.149569980T>CCA1902243MMADHCc.885A>G (p.Gly295=)
c.987A>G (p.Gly329=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.149569980T>GCA429405851MMADHCc.885A>C (p.Gly295=)
c.987A>C (p.Gly329=)
 ClinVar dbSNP
2g.149569980T=CA1297264265MMADHCc.885A= (p.Gly295=)
c.987A= (p.Gly329=)
2g.149569981C>ACA348868692MMADHCc.884G>T (p.Gly295Val)
c.986G>T (p.Gly329Val)
2g.149569981C>GCA348868690MMADHCc.884G>C (p.Gly295Ala)
c.986G>C (p.Gly329Ala)
2g.149569981C>TCA348868691MMADHCc.884G>A (p.Gly295Glu)
c.986G>A (p.Gly329Glu)
2g.149569982C>ACA348868693MMADHCc.883G>T (p.Gly295Ter)
c.985G>T (p.Gly329Ter)
2g.149569982C>GCA348868694MMADHCc.883G>C (p.Gly295Arg)
c.985G>C (p.Gly329Arg)
2g.149569982C>TCA348868695MMADHCc.883G>A (p.Gly295Arg)
c.985G>A (p.Gly329Arg)
2g.149569983A=CA1297264266MMADHCc.882T= (p.Ser294=)
c.984T= (p.Ser328=)
2g.149569983A>CCA348868696MMADHCc.882T>G (p.Ser294Arg)
c.984T>G (p.Ser328Arg)
2g.149569983A>GCA429405852MMADHCc.882T>C (p.Ser294=)
c.984T>C (p.Ser328=)
2g.149569983A>TCA1902244MMADHCc.882T>A (p.Ser294Arg)
c.984T>A (p.Ser328Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149569984C>ACA348868697MMADHCc.881G>T (p.Ser294Ile)
c.983G>T (p.Ser328Ile)
2g.149569984C>GCA348868698MMADHCc.881G>C (p.Ser294Thr)
c.983G>C (p.Ser328Thr)
2g.149569984C>TCA348868699MMADHCc.881G>A (p.Ser294Asn)
c.983G>A (p.Ser328Asn)
2g.149569985T>ACA348868700MMADHCc.880A>T (p.Ser294Cys)
c.982A>T (p.Ser328Cys)
2g.149569985T>CCA348868701MMADHCc.880A>G (p.Ser294Gly)
c.982A>G (p.Ser328Gly)
2g.149569985T>GCA348868702MMADHCc.880A>C (p.Ser294Arg)
c.982A>C (p.Ser328Arg)
2g.149569986T>ACA348868703MMADHCc.879A>T (p.Leu293Phe)
c.981A>T (p.Leu327Phe)
2g.149569986T>CCA429405853MMADHCc.879A>G (p.Leu293=)
c.981A>G (p.Leu327=)
2g.149569986T>GCA348868704MMADHCc.879A>C (p.Leu293Phe)
c.981A>C (p.Leu327Phe)
2g.149569987A>CCA348868706MMADHCc.878T>G (p.Leu293Ter)
c.980T>G (p.Leu327Ter)
2g.149569987A>GCA348868707MMADHCc.878T>C (p.Leu293Ser)
c.980T>C (p.Leu327Ser)
2g.149569987A>TCA348868705MMADHCc.878T>A (p.Leu293Ter)
c.980T>A (p.Leu327Ter)
2g.149569988A=CA1297264267MMADHCc.877T= (p.Leu293=)
c.979T= (p.Leu327=)
2g.149569988A>CCA348868709MMADHCc.877T>G (p.Leu293Val)
c.979T>G (p.Leu327Val)
2g.149569988A>GCA429405854MMADHCc.877T>C (p.Leu293=)
c.979T>C (p.Leu327=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.149569988A>TCA348868708MMADHCc.877T>A (p.Leu293Ile)
c.979T>A (p.Leu327Ile)
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=)
 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)
2g.149570009C=CA1297264275MMADHCc.856G= (p.Asp286=)
c.958G= (p.Asp320=)
2g.149570009C>GCA348868790MMADHCc.856G>C (p.Asp286His)
c.958G>C (p.Asp320His)
2g.149570009C>TCA348868792MMADHCc.856G>A (p.Asp286Asn)
c.958G>A (p.Asp320Asn)
 gnomAD v4
2g.149570010T>ACA1902248MMADHCc.855A>T (p.Pro285=)
c.957A>T (p.Pro319=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570010T>CCA429405863MMADHCc.855A>G (p.Pro285=)
c.957A>G (p.Pro319=)
2g.149570010T>GCA429405864MMADHCc.855A>C (p.Pro285=)
c.957A>C (p.Pro319=)
2g.149570010T=CA1297264276MMADHCc.855A= (p.Pro285=)
c.957A= (p.Pro319=)
2g.149570012_149570014dupCA348868794MMADHCc.853_855dup (p.Pro285_Asp286insPro)
c.955_957dup (p.Pro319_Asp320insPro)
 dbSNP gnomAD v4
2g.149570011G>ACA348868800MMADHCc.854C>T (p.Pro285Leu)
c.956C>T (p.Pro319Leu)
 gnomAD v4
2g.149570011G>CCA348868807MMADHCc.854C>G (p.Pro285Arg)
c.956C>G (p.Pro319Arg)
2g.149570011G>TCA348868798MMADHCc.854C>A (p.Pro285Gln)
c.956C>A (p.Pro319Gln)
2g.149570012G>ACA348868814MMADHCc.853C>T (p.Pro285Ser)
c.955C>T (p.Pro319Ser)
 gnomAD v4
2g.149570012G>CCA348868809MMADHCc.853C>G (p.Pro285Ala)
c.955C>G (p.Pro319Ala)
2g.149570012G=CA1297264277MMADHCc.853C= (p.Pro285=)
c.955C= (p.Pro319=)
2g.149570012G>TCA348868812MMADHCc.853C>A (p.Pro285Thr)
c.955C>A (p.Pro319Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.149570013T>ACA429405867MMADHCc.852A>T (p.Thr284=)
c.954A>T (p.Thr318=)
2g.149570013T>CCA429405866MMADHCc.852A>G (p.Thr284=)
c.954A>G (p.Thr318=)
2g.149570013T>GCA429405865MMADHCc.852A>C (p.Thr284=)
c.954A>C (p.Thr318=)
2g.149570014G>ACA348868817MMADHCc.851C>T (p.Thr284Ile)
c.953C>T (p.Thr318Ile)
2g.149570014G>CCA348868818MMADHCc.851C>G (p.Thr284Arg)
c.953C>G (p.Thr318Arg)
2g.149570014G>TCA348868820MMADHCc.851C>A (p.Thr284Lys)
c.953C>A (p.Thr318Lys)
 COSMIC
2g.149570015T>ACA348868826MMADHCc.850A>T (p.Thr284Ser)
c.952A>T (p.Thr318Ser)
 gnomAD v4
2g.149570015T>CCA348868825MMADHCc.850A>G (p.Thr284Ala)
c.952A>G (p.Thr318Ala)
2g.149570015T>GCA348868822MMADHCc.850A>C (p.Thr284Pro)
c.952A>C (p.Thr318Pro)
2g.149570016delCA2577116926MMADHCc.850del (p.Thr284HisfsTer7)
c.952del (p.Thr318HisfsTer7)
2g.149570016T>ACA429405868MMADHCc.849A>T (p.Ala283=)
c.951A>T (p.Ala317=)
2g.149570016T>CCA429405869MMADHCc.849A>G (p.Ala283=)
c.951A>G (p.Ala317=)
 gnomAD v4
2g.149570016T>GCA429405870MMADHCc.849A>C (p.Ala283=)
c.951A>C (p.Ala317=)
 gnomAD v4
2g.149570017G>ACA348868830MMADHCc.848C>T (p.Ala283Val)
c.950C>T (p.Ala317Val)
2g.149570017G>CCA348868831MMADHCc.848C>G (p.Ala283Gly)
c.950C>G (p.Ala317Gly)
2g.149570017G>TCA348868834MMADHCc.848C>A (p.Ala283Glu)
c.950C>A (p.Ala317Glu)
2g.149570018C>ACA348868836MMADHCc.847G>T (p.Ala283Ser)
c.949G>T (p.Ala317Ser)
2g.149570018C>GCA348868839MMADHCc.847G>C (p.Ala283Pro)
c.949G>C (p.Ala317Pro)
2g.149570018C>TCA348868841MMADHCc.847G>A (p.Ala283Thr)
c.949G>A (p.Ala317Thr)
2g.149570019A=CA1297264278MMADHCc.846T= (p.Asn282=)
c.948T= (p.Asn316=)
2g.149570019A>CCA348868844MMADHCc.846T>G (p.Asn282Lys)
c.948T>G (p.Asn316Lys)
2g.149570019A>GCA1902249MMADHCc.846T>C (p.Asn282=)
c.948T>C (p.Asn316=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570019A>TCA348868845MMADHCc.846T>A (p.Asn282Lys)
c.948T>A (p.Asn316Lys)
2g.149570020T>ACA348868850MMADHCc.845A>T (p.Asn282Ile)
c.947A>T (p.Asn316Ile)
 COSMIC
2g.149570020T>CCA1902250MMADHCc.845A>G (p.Asn282Ser)
c.947A>G (p.Asn316Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570020T>GCA348868852MMADHCc.845A>C (p.Asn282Thr)
c.947A>C (p.Asn316Thr)
2g.149570020T=CA1297264279MMADHCc.845A= (p.Asn282=)
c.947A= (p.Asn316=)
2g.149570021T>ACA348868854MMADHCc.844A>T (p.Asn282Tyr)
c.946A>T (p.Asn316Tyr)
2g.149570021T>CCA348868856MMADHCc.844A>G (p.Asn282Asp)
c.946A>G (p.Asn316Asp)
 gnomAD v4
2g.149570021T>GCA348868858MMADHCc.844A>C (p.Asn282His)
c.946A>C (p.Asn316His)
2g.149570022A>CCA429405871MMADHCc.843T>G (p.Thr281=)
c.945T>G (p.Thr315=)
2g.149570022A>GCA429405872MMADHCc.843T>C (p.Thr281=)
c.945T>C (p.Thr315=)
2g.149570022A>TCA429405873MMADHCc.843T>A (p.Thr281=)
c.945T>A (p.Thr315=)
2g.149570023G>ACA1902252MMADHCc.842C>T (p.Thr281Ile)
c.944C>T (p.Thr315Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570023G>CCA1902251MMADHCc.842C>G (p.Thr281Ser)
c.944C>G (p.Thr315Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570023G=CA1297264280MMADHCc.842C= (p.Thr281=)
c.944C= (p.Thr315=)
2g.149570023G>TCA348868862MMADHCc.842C>A (p.Thr281Asn)
c.944C>A (p.Thr315Asn)
2g.149570024T>ACA348868864MMADHCc.841A>T (p.Thr281Ser)
c.943A>T (p.Thr315Ser)
2g.149570024T>CCA348868866MMADHCc.841A>G (p.Thr281Ala)
c.943A>G (p.Thr315Ala)
2g.149570024T>GCA348868868MMADHCc.841A>C (p.Thr281Pro)
c.943A>C (p.Thr315Pro)
2g.149570025G>ACA429405874MMADHCc.840C>T (p.Phe280=)
c.942C>T (p.Phe314=)
 ClinVar dbSNP
2g.149570025G>CCA348868872MMADHCc.840C>G (p.Phe280Leu)
c.942C>G (p.Phe314Leu)
2g.149570025G>TCA348868870MMADHCc.840C>A (p.Phe280Leu)
c.942C>A (p.Phe314Leu)
2g.149570026A>CCA348868874MMADHCc.839T>G (p.Phe280Cys)
c.941T>G (p.Phe314Cys)
2g.149570026A>GCA348868876MMADHCc.839T>C (p.Phe280Ser)
c.941T>C (p.Phe314Ser)
2g.149570026A>TCA348868878MMADHCc.839T>A (p.Phe280Tyr)
c.941T>A (p.Phe314Tyr)
2g.149570027A>CCA348868882MMADHCc.838T>G (p.Phe280Val)
c.940T>G (p.Phe314Val)
2g.149570027A>GCA348868883MMADHCc.838T>C (p.Phe280Leu)
c.940T>C (p.Phe314Leu)
2g.149570027A>TCA348868885MMADHCc.838T>A (p.Phe280Ile)
c.940T>A (p.Phe314Ile)
2g.149570028delCA2661422179MMADHCc.837del (p.Phe280SerfsTer11)
c.939del (p.Phe314SerfsTer11)
 gnomAD v4
2g.149570028G>ACA429405875MMADHCc.837C>T (p.Ile279=)
c.939C>T (p.Ile313=)
2g.149570028G>CCA348868888MMADHCc.837C>G (p.Ile279Met)
c.939C>G (p.Ile313Met)
2g.149570028G>TCA429405876MMADHCc.837C>A (p.Ile279=)
c.939C>A (p.Ile313=)
2g.149570029A>CCA348868895MMADHCc.836T>G (p.Ile279Ser)
c.938T>G (p.Ile313Ser)
2g.149570029A>GCA348868891MMADHCc.836T>C (p.Ile279Thr)
c.938T>C (p.Ile313Thr)
2g.149570029A>TCA348868893MMADHCc.836T>A (p.Ile279Asn)
c.938T>A (p.Ile313Asn)
2g.149570030T>ACA348868897MMADHCc.835A>T (p.Ile279Phe)
c.937A>T (p.Ile313Phe)
2g.149570030T>CCA1902253MMADHCc.835A>G (p.Ile279Val)
c.937A>G (p.Ile313Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570030T>GCA348868901MMADHCc.835A>C (p.Ile279Leu)
c.937A>C (p.Ile313Leu)
2g.149570030T=CA1297264281MMADHCc.835A= (p.Ile279=)
c.937A= (p.Ile313=)
2g.149570031A>CCA348868904MMADHCc.834T>G (p.Ser278Arg)
c.936T>G (p.Ser312Arg)
2g.149570031A>GCA429405877MMADHCc.834T>C (p.Ser278=)
c.936T>C (p.Ser312=)
2g.149570031A>TCA348868906MMADHCc.834T>A (p.Ser278Arg)
c.936T>A (p.Ser312Arg)
2g.149570032C>ACA348868908MMADHCc.833G>T (p.Ser278Ile)
c.935G>T (p.Ser312Ile)
2g.149570032C>GCA348868913MMADHCc.833G>C (p.Ser278Thr)
c.935G>C (p.Ser312Thr)
2g.149570032C>TCA348868910MMADHCc.833G>A (p.Ser278Asn)
c.935G>A (p.Ser312Asn)
2g.149570033T>ACA348868915MMADHCc.832A>T (p.Ser278Cys)
c.934A>T (p.Ser312Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.149570033T>CCA348868917MMADHCc.832A>G (p.Ser278Gly)
c.934A>G (p.Ser312Gly)
2g.149570033T>GCA348868919MMADHCc.832A>C (p.Ser278Arg)
c.934A>C (p.Ser312Arg)
2g.149570033T=CA1297264282MMADHCc.832A= (p.Ser278=)
c.934A= (p.Ser312=)
2g.149570034C>ACA429405881MMADHCc.831G>T (p.Gly277=)
c.933G>T (p.Gly311=)
2g.149570034C>GCA429405880MMADHCc.831G>C (p.Gly277=)
c.933G>C (p.Gly311=)
2g.149570034C>TCA429405879MMADHCc.831G>A (p.Gly277=)
c.933G>A (p.Gly311=)
2g.149570035C>ACA348868921MMADHCc.830G>T (p.Gly277Val)
c.932G>T (p.Gly311Val)
2g.149570035C>GCA348868923MMADHCc.830G>C (p.Gly277Ala)
c.932G>C (p.Gly311Ala)
2g.149570035C>TCA348868924MMADHCc.830G>A (p.Gly277Glu)
c.932G>A (p.Gly311Glu)
 COSMIC
2g.149570036C>ACA348868928MMADHCc.829G>T (p.Gly277Trp)
c.931G>T (p.Gly311Trp)
2g.149570036C>GCA348868929MMADHCc.829G>C (p.Gly277Arg)
c.931G>C (p.Gly311Arg)
2g.149570036C>TCA348868931MMADHCc.829G>A (p.Gly277Arg)
c.931G>A (p.Gly311Arg)
2g.149570037T>ACA429405883MMADHCc.828A>T (p.Val276=)
c.930A>T (p.Val310=)
2g.149570037T>CCA58332356MMADHCc.828A>G (p.Val276=)
c.930A>G (p.Val310=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.149570037T>GCA429405884MMADHCc.828A>C (p.Val276=)
c.930A>C (p.Val310=)
2g.149570037T=CA1297264283MMADHCc.828A= (p.Val276=)
c.930A= (p.Val310=)
2g.149570038A=CA1297264284MMADHCc.827T= (p.Val276=)
c.929T= (p.Val310=)
2g.149570038A>CCA348868934MMADHCc.827T>G (p.Val276Gly)
c.929T>G (p.Val310Gly)
2g.149570038A>GCA348868936MMADHCc.827T>C (p.Val276Ala)
c.929T>C (p.Val310Ala)
 dbSNP
2g.149570038A>TCA348868938MMADHCc.827T>A (p.Val276Glu)
c.929T>A (p.Val310Glu)
2g.149570039C>ACA348868940MMADHCc.826G>T (p.Val276Leu)
c.928G>T (p.Val310Leu)
 gnomAD v4
2g.149570039C=CA1297264285MMADHCc.826G= (p.Val276=)
c.928G= (p.Val310=)
2g.149570039C>GCA348868942MMADHCc.826G>C (p.Val276Leu)
c.928G>C (p.Val310Leu)
2g.149570039C>TCA348868941MMADHCc.826G>A (p.Val276Ile)
c.928G>A (p.Val310Ile)
 dbSNP gnomAD v4
2g.149570040A>CCA429405885MMADHCc.825T>G (p.Val275=)
c.927T>G (p.Val309=)
2g.149570040A>GCA429405886MMADHCc.825T>C (p.Val275=)
c.927T>C (p.Val309=)
 ClinVar
2g.149570040A>TCA429405888MMADHCc.825T>A (p.Val275=)
c.927T>A (p.Val309=)
2g.149570041_149570044dupCA2661422180MMADHCc.822_825dup (p.Val276SerfsTer8)
c.924_927dup (p.Val310SerfsTer8)
 gnomAD v4
2g.149570041A>CCA348868944MMADHCc.824T>G (p.Val275Gly)
c.926T>G (p.Val309Gly)
 gnomAD v4
2g.149570041A>GCA348868948MMADHCc.824T>C (p.Val275Ala)
c.926T>C (p.Val309Ala)
2g.149570041A>TCA348868945MMADHCc.824T>A (p.Val275Asp)
c.926T>A (p.Val309Asp)
2g.149570042delCA2661422181MMADHCc.823del (p.Val275LeufsTer2)
c.925del (p.Val309LeufsTer2)
 gnomAD v4
2g.149570042C>ACA348868950MMADHCc.823G>T (p.Val275Phe)
c.925G>T (p.Val309Phe)
2g.149570042C>GCA348868953MMADHCc.823G>C (p.Val275Leu)
c.925G>C (p.Val309Leu)
2g.149570042C>TCA348868954MMADHCc.823G>A (p.Val275Ile)
c.925G>A (p.Val309Ile)
2g.149570043T>ACA429405889MMADHCc.822A>T (p.Val274=)
c.924A>T (p.Val308=)
2g.149570043T>CCA429405890MMADHCc.822A>G (p.Val274=)
c.924A>G (p.Val308=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.149570043T>GCA429405891MMADHCc.822A>C (p.Val274=)
c.924A>C (p.Val308=)
2g.149570043T=CA1297264286MMADHCc.822A= (p.Val274=)
c.924A= (p.Val308=)
2g.149570044A>CCA348868957MMADHCc.821T>G (p.Val274Gly)
c.923T>G (p.Val308Gly)
2g.149570044A>GCA348868959MMADHCc.821T>C (p.Val274Ala)
c.923T>C (p.Val308Ala)
2g.149570044A>TCA348868962MMADHCc.821T>A (p.Val274Glu)
c.923T>A (p.Val308Glu)
2g.149570045C>ACA1902254MMADHCc.820G>T (p.Val274Leu)
c.922G>T (p.Val308Leu)
 dbSNP ExAC
2g.149570045C=CA1297264287MMADHCc.820G= (p.Val274=)
c.922G= (p.Val308=)
2g.149570045C>GCA348868966MMADHCc.820G>C (p.Val274Leu)
c.922G>C (p.Val308Leu)
2g.149570045C>TCA348868968MMADHCc.820G>A (p.Val274Ile)
c.922G>A (p.Val308Ile)
 dbSNP
2g.149570046A=CA1297264288MMADHCc.819T= (p.His273=)
c.921T= (p.His307=)
2g.149570046A>CCA1902255MMADHCc.819T>G (p.His273Gln)
c.921T>G (p.His307Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570046A>GCA429405892MMADHCc.819T>C (p.His273=)
c.921T>C (p.His307=)
 ClinVar dbSNP gnomAD v4
2g.149570046A>TCA348868971MMADHCc.819T>A (p.His273Gln)
c.921T>A (p.His307Gln)
2g.149570047T>ACA348868975MMADHCc.818A>T (p.His273Leu)
c.920A>T (p.His307Leu)
2g.149570047T>CCA348868974MMADHCc.818A>G (p.His273Arg)
c.920A>G (p.His307Arg)
 gnomAD v4
2g.149570047T>GCA348868973MMADHCc.818A>C (p.His273Pro)
c.920A>C (p.His307Pro)
2g.149570048G>ACA348868994MMADHCc.817C>T (p.His273Tyr)
c.919C>T (p.His307Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.149570048G>CCA348868995MMADHCc.817C>G (p.His273Asp)
c.919C>G (p.His307Asp)
2g.149570048G=CA1297264289MMADHCc.817C= (p.His273=)
c.919C= (p.His307=)
2g.149570048G>TCA348868997MMADHCc.817C>A (p.His273Asn)
c.919C>A (p.His307Asn)
2g.149570049G>ACA429405893MMADHCc.816C>T (p.Thr272=)
c.918C>T (p.Thr306=)
2g.149570049G>CCA429405894MMADHCc.816C>G (p.Thr272=)
c.918C>G (p.Thr306=)
 COSMIC
2g.149570049G>TCA429405895MMADHCc.816C>A (p.Thr272=)
c.918C>A (p.Thr306=)
2g.149570050G>ACA348868998MMADHCc.815C>T (p.Thr272Ile)
c.917C>T (p.Thr306Ile)
2g.149570050G>CCA348869000MMADHCc.815C>G (p.Thr272Ser)
c.917C>G (p.Thr306Ser)
2g.149570050G=CA1297264290MMADHCc.815C= (p.Thr272=)
c.917C= (p.Thr306=)
2g.149570050G>TCA1902256MMADHCc.815C>A (p.Thr272Asn)
c.917C>A (p.Thr306Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570051T>ACA348869003MMADHCc.814A>T (p.Thr272Ser)
c.916A>T (p.Thr306Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.149570051T>CCA348869005MMADHCc.814A>G (p.Thr272Ala)
c.916A>G (p.Thr306Ala)
2g.149570051T>GCA348869007MMADHCc.814A>C (p.Thr272Pro)
c.916A>C (p.Thr306Pro)
2g.149570051T=CA1297264291MMADHCc.814A= (p.Thr272=)
c.916A= (p.Thr306=)
2g.149570052A>CCA429405896MMADHCc.813T>G (p.Gly271=)
c.915T>G (p.Gly305=)
2g.149570052A>GCA429405897MMADHCc.813T>C (p.Gly271=)
c.915T>C (p.Gly305=)
2g.149570052A>TCA429405898MMADHCc.813T>A (p.Gly271=)
c.915T>A (p.Gly305=)
2g.149570053C>ACA348869009MMADHCc.812G>T (p.Gly271Val)
c.914G>T (p.Gly305Val)
 dbSNP gnomAD v4
2g.149570053C=CA1297264292MMADHCc.812G= (p.Gly271=)
c.914G= (p.Gly305=)
2g.149570053C>GCA348869012MMADHCc.812G>C (p.Gly271Ala)
c.914G>C (p.Gly305Ala)
 gnomAD v4
2g.149570053C>TCA1902257MMADHCc.812G>A (p.Gly271Asp)
c.914G>A (p.Gly305Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570054C>ACA348869020MMADHCc.811G>T (p.Gly271Cys)
c.913G>T (p.Gly305Cys)
 dbSNP gnomAD v4 COSMIC
2g.149570054C=CA1297264293MMADHCc.811G= (p.Gly271=)
c.913G= (p.Gly305=)
2g.149570054C>GCA348869018MMADHCc.811G>C (p.Gly271Arg)
c.913G>C (p.Gly305Arg)
2g.149570054C>TCA348869016MMADHCc.811G>A (p.Gly271Ser)
c.913G>A (p.Gly305Ser)
2g.149570055C>ACA348869022MMADHCc.810G>T (p.Trp270Cys)
c.912G>T (p.Trp304Cys)
2g.149570055C>GCA348869025MMADHCc.810G>C (p.Trp270Cys)
c.912G>C (p.Trp304Cys)
2g.149570055C>TCA348869027MMADHCc.810G>A (p.Trp270Ter)
c.912G>A (p.Trp304Ter)
2g.149570055_149570057delinsCCACA1297264294MMADHCc.808_810delinsTGG (p.Trp270=)
c.910_912delinsTGG (p.Trp304=)
2g.149570056C>ACA348869029MMADHCc.809G>T (p.Trp270Leu)
c.911G>T (p.Trp304Leu)
2g.149570056C>GCA348869031MMADHCc.809G>C (p.Trp270Ser)
c.911G>C (p.Trp304Ser)
2g.149570056C>TCA348869032MMADHCc.809G>A (p.Trp270Ter)
c.911G>A (p.Trp304Ter)
 COSMIC
2g.149570056_149570057delCA1297264295MMADHCc.808_809del (p.Trp270GlyfsTer12)
c.910_911del (p.Trp304GlyfsTer12)
 dbSNP
2g.149570057A>CCA348869034MMADHCc.808T>G (p.Trp270Gly)
c.910T>G (p.Trp304Gly)
2g.149570057A>GCA348869036MMADHCc.808T>C (p.Trp270Arg)
c.910T>C (p.Trp304Arg)
 ClinVar dbSNP gnomAD v4
2g.149570057A>TCA348869038MMADHCc.808T>A (p.Trp270Arg)
c.910T>A (p.Trp304Arg)
2g.149570058G>ACA429405899MMADHCc.807C>T (p.Leu269=)
c.909C>T (p.Leu303=)
 dbSNP gnomAD v2 gnomAD v4
2g.149570058G>CCA429405900MMADHCc.807C>G (p.Leu269=)
c.909C>G (p.Leu303=)
2g.149570058G=CA1297264296MMADHCc.807C= (p.Leu269=)
c.909C= (p.Leu303=)
2g.149570058G>TCA429405901MMADHCc.807C>A (p.Leu269=)
c.909C>A (p.Leu303=)
2g.149570059A=CA1297264297MMADHCc.806T= (p.Leu269=)
c.908T= (p.Leu303=)
2g.149570059A>CCA348869039MMADHCc.806T>G (p.Leu269Arg)
c.908T>G (p.Leu303Arg)
 gnomAD v4
2g.149570059A>GCA348869041MMADHCc.806T>C (p.Leu269Pro)
c.908T>C (p.Leu303Pro)
 dbSNP
2g.149570059A>TCA348869043MMADHCc.806T>A (p.Leu269His)
c.908T>A (p.Leu303His)
2g.149570060G>ACA348869047MMADHCc.805C>T (p.Leu269Phe)
c.907C>T (p.Leu303Phe)
 gnomAD v4
2g.149570060G>CCA348869049MMADHCc.805C>G (p.Leu269Val)
c.907C>G (p.Leu303Val)
 gnomAD v4
2g.149570060G>TCA348869045MMADHCc.805C>A (p.Leu269Ile)
c.907C>A (p.Leu303Ile)
2g.149570061A=CA1297264298MMADHCc.804T= (p.Ser268=)
c.906T= (p.Ser302=)
2g.149570061A>CCA348869051MMADHCc.804T>G (p.Ser268Arg)
c.906T>G (p.Ser302Arg)
 dbSNP
2g.149570061A>GCA429405903MMADHCc.804T>C (p.Ser268=)
c.906T>C (p.Ser302=)
2g.149570061A>TCA348869053MMADHCc.804T>A (p.Ser268Arg)
c.906T>A (p.Ser302Arg)
 gnomAD v4
2g.149570062C>ACA348869054MMADHCc.803G>T (p.Ser268Ile)
c.905G>T (p.Ser302Ile)
2g.149570062C>GCA348869056MMADHCc.803G>C (p.Ser268Thr)
c.905G>C (p.Ser302Thr)
2g.149570062C>TCA348869058MMADHCc.803G>A (p.Ser268Asn)
c.905G>A (p.Ser302Asn)
 gnomAD v4
2g.149570063T>ACA348869064MMADHCc.802A>T (p.Ser268Cys)
c.904A>T (p.Ser302Cys)
2g.149570063T>CCA348869061MMADHCc.802A>G (p.Ser268Gly)
c.904A>G (p.Ser302Gly)
2g.149570063T>GCA348869063MMADHCc.802A>C (p.Ser268Arg)
c.904A>C (p.Ser302Arg)
 dbSNP gnomAD v4
2g.149570063T=CA1297264299MMADHCc.802A= (p.Ser268=)
c.904A= (p.Ser302=)
2g.149570064A>CCA348869068MMADHCc.801T>G (p.His267Gln)
c.903T>G (p.His301Gln)
2g.149570064A>GCA429405904MMADHCc.801T>C (p.His267=)
c.903T>C (p.His301=)
2g.149570064A>TCA348869070MMADHCc.801T>A (p.His267Gln)
c.903T>A (p.His301Gln)
2g.149570065T>ACA348869072MMADHCc.800A>T (p.His267Leu)
c.902A>T (p.His301Leu)
2g.149570065T>CCA1902258MMADHCc.800A>G (p.His267Arg)
c.902A>G (p.His301Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.149570065T>GCA348869074MMADHCc.800A>C (p.His267Pro)
c.902A>C (p.His301Pro)
2g.149570065T=CA1297264300MMADHCc.800A= (p.His267=)
c.902A= (p.His301=)
2g.149570066G>ACA348869077MMADHCc.799C>T (p.His267Tyr)
c.901C>T (p.His301Tyr)
2g.149570066G>CCA348869081MMADHCc.799C>G (p.His267Asp)
c.901C>G (p.His301Asp)
2g.149570066G>TCA348869079MMADHCc.799C>A (p.His267Asn)
c.901C>A (p.His301Asn)
2g.149570067A>CCA429405905MMADHCc.798T>G (p.Arg266=)
c.900T>G (p.Arg300=)
2g.149570067A>GCA429405907MMADHCc.798T>C (p.Arg266=)
c.900T>C (p.Arg300=)
2g.149570067A>TCA429405906MMADHCc.798T>A (p.Arg266=)
c.900T>A (p.Arg300=)
2g.149570068C>ACA1902259MMADHCc.797G>T (p.Arg266Leu)
c.899G>T (p.Arg300Leu)
 dbSNP ExAC gnomAD v4
2g.149570068C=CA1297264301MMADHCc.797G= (p.Arg266=)
c.899G= (p.Arg300=)
2g.149570068C>GCA348869086MMADHCc.797G>C (p.Arg266Pro)
c.899G>C (p.Arg300Pro)
2g.149570068C>TCA1902260MMADHCc.797G>A (p.Arg266His)
c.899G>A (p.Arg300His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.149570069G>ACA348869088MMADHCc.796C>T (p.Arg266Cys)
c.898C>T (p.Arg300Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.149570069G>CCA348869093MMADHCc.796C>G (p.Arg266Gly)
c.898C>G (p.Arg300Gly)
 gnomAD v4
2g.149570069G=CA1297264302MMADHCc.796C= (p.Arg266=)
c.898C= (p.Arg300=)
2g.149570069G>TCA348869090MMADHCc.796C>A (p.Arg266Ser)
c.898C>A (p.Arg300Ser)
2g.149570070A=CA1297264303MMADHCc.795T= (p.Ile265=)
c.897T= (p.Ile299=)
2g.149570070A>CCA348869095MMADHCc.795T>G (p.Ile265Met)
c.897T>G (p.Ile299Met)
2g.149570070A>GCA429405908MMADHCc.795T>C (p.Ile265=)
c.897T>C (p.Ile299=)
 ClinVar dbSNP
2g.149570070A>TCA429405909MMADHCc.795T>A (p.Ile265=)
c.897T>A (p.Ile299=)
 dbSNP gnomAD v3 gnomAD v4
2g.149570070_149570071insTACA2661422182MMADHCc.795_796insAT (p.Arg266IlefsTer10)
c.897_898insAT (p.Arg300IlefsTer10)
 gnomAD v4
2g.149570071A>CCA348869097MMADHCc.794T>G (p.Ile265Ser)
c.896T>G (p.Ile299Ser)
2g.149570071A>GCA348869099MMADHCc.794T>C (p.Ile265Thr)
c.896T>C (p.Ile299Thr)
2g.149570071A>TCA348869100MMADHCc.794T>A (p.Ile265Asn)
c.896T>A (p.Ile299Asn)
2g.149570072T>ACA348869102MMADHCc.793A>T (p.Ile265Phe)
c.895A>T (p.Ile299Phe)
2g.149570072T>CCA348869104MMADHCc.793A>G (p.Ile265Val)
c.895A>G (p.Ile299Val)
2g.149570072T>GCA348869106MMADHCc.793A>C (p.Ile265Leu)
c.895A>C (p.Ile299Leu)
 gnomAD v4
2g.149570073C>ACA429405910MMADHCc.792G>T (p.Val264=)
c.894G>T (p.Val298=)
2g.149570073C>GCA429405912MMADHCc.792G>C (p.Val264=)
c.894G>C (p.Val298=)
2g.149570073C>TCA429405911MMADHCc.792G>A (p.Val264=)
c.894G>A (p.Val298=)
 gnomAD v4
2g.149570074A>CCA348869108MMADHCc.791T>G (p.Val264Gly)
c.893T>G (p.Val298Gly)
2g.149570074A>GCA348869110MMADHCc.791T>C (p.Val264Ala)
c.893T>C (p.Val298Ala)
2g.149570074A>TCA348869111MMADHCc.791T>A (p.Val264Glu)
c.893T>A (p.Val298Glu)

Number of alleles fetched