Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508157_45508269dupCA2743432180MMACHCc.277-55_334dup
c.106-55_163dup
c.82-55_139dup
1g.45508209_45508238delCA2586966634MMACHCc.277-3_303del
c.106-3_132del
c.82-3_108del
1g.45508215_45508224delCA21829276MMACHCc.280_289del
c.109_118del
c.85_94del
1g.45508216_45508225delCA2739272544MMACHCc.281_290del (p.Leu94ArgfsTer3)
c.110_119del (p.Leu37ArgfsTer3)
c.86_95del (p.Leu29ArgfsTer3)
 ClinVar
1g.45508224C>ACA340132115MMACHCc.289C>A (p.Leu97Met)
c.118C>A (p.Leu40Met)
c.94C>A (p.Leu32Met)
1g.45508224C>GCA340132116MMACHCc.289C>G (p.Leu97Val)
c.118C>G (p.Leu40Val)
c.94C>G (p.Leu32Val)
1g.45508224C>TCA417705482MMACHCc.289C>T (p.Leu97=)
c.118C>T (p.Leu40=)
c.94C>T (p.Leu32=)
 gnomAD v4
1g.45508225T>ACA340132117MMACHCc.290T>A (p.Leu97Gln)
c.119T>A (p.Leu40Gln)
c.95T>A (p.Leu32Gln)
1g.45508225T>CCA340132118MMACHCc.290T>C (p.Leu97Pro)
c.119T>C (p.Leu40Pro)
c.95T>C (p.Leu32Pro)
1g.45508225T>GCA340132119MMACHCc.290T>G (p.Leu97Arg)
c.119T>G (p.Leu40Arg)
c.95T>G (p.Leu32Arg)
1g.45508226G>ACA21829286MMACHCc.291G>A (p.Leu97=)
c.120G>A (p.Leu40=)
c.96G>A (p.Leu32=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508226G>CCA417705483MMACHCc.291G>C (p.Leu97=)
c.120G>C (p.Leu40=)
c.96G>C (p.Leu32=)
1g.45508226G=CA1147214759MMACHCc.291G= (p.Leu97=)
c.120G= (p.Leu40=)
c.96G= (p.Leu32=)
1g.45508226G>TCA417705484MMACHCc.291G>T (p.Leu97=)
c.120G>T (p.Leu40=)
c.96G>T (p.Leu32=)
1g.45508227C>ACA340132120MMACHCc.292C>A (p.Gln98Lys)
c.121C>A (p.Gln41Lys)
c.97C>A (p.Gln33Lys)
1g.45508227C=CA2473783349MMACHCc.292C= (p.Gln98=)
c.121C= (p.Gln41=)
c.97C= (p.Gln33=)
1g.45508227C>GCA340132121MMACHCc.292C>G (p.Gln98Glu)
c.121C>G (p.Gln41Glu)
c.97C>G (p.Gln33Glu)
1g.45508227C>TCA827696MMACHCc.292C>T (p.Gln98Ter)
c.121C>T (p.Gln41Ter)
c.97C>T (p.Gln33Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508228A>CCA340132122MMACHCc.293A>C (p.Gln98Pro)
c.122A>C (p.Gln41Pro)
c.98A>C (p.Gln33Pro)
1g.45508228A>GCA340132124MMACHCc.293A>G (p.Gln98Arg)
c.122A>G (p.Gln41Arg)
c.98A>G (p.Gln33Arg)
1g.45508228A>TCA340132123MMACHCc.293A>T (p.Gln98Leu)
c.122A>T (p.Gln41Leu)
c.98A>T (p.Gln33Leu)
1g.45508229G>ACA417705485MMACHCc.294G>A (p.Gln98=)
c.123G>A (p.Gln41=)
c.99G>A (p.Gln33=)
1g.45508229G>CCA340132125MMACHCc.294G>C (p.Gln98His)
c.123G>C (p.Gln41His)
c.99G>C (p.Gln33His)
1g.45508229G>TCA340132126MMACHCc.294G>T (p.Gln98His)
c.123G>T (p.Gln41His)
c.99G>T (p.Gln33His)
1g.45508230A>CCA340132127MMACHCc.295A>C (p.Ile99Leu)
c.124A>C (p.Ile42Leu)
c.100A>C (p.Ile34Leu)
1g.45508230A>GCA340132128MMACHCc.295A>G (p.Ile99Val)
c.124A>G (p.Ile42Val)
c.100A>G (p.Ile34Val)
1g.45508230A>TCA340132129MMACHCc.295A>T (p.Ile99Leu)
c.124A>T (p.Ile42Leu)
c.100A>T (p.Ile34Leu)
1g.45508231T>ACA340132130MMACHCc.296T>A (p.Ile99Lys)
c.125T>A (p.Ile42Lys)
c.101T>A (p.Ile34Lys)
 gnomAD v4
1g.45508231T>CCA827697MMACHCc.296T>C (p.Ile99Thr)
c.125T>C (p.Ile42Thr)
c.101T>C (p.Ile34Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508231T>GCA340132131MMACHCc.296T>G (p.Ile99Arg)
c.125T>G (p.Ile42Arg)
c.101T>G (p.Ile34Arg)
1g.45508231T=CA1143715737MMACHCc.296T= (p.Ile99=)
c.125T= (p.Ile42=)
c.101T= (p.Ile34=)
1g.45508232A>CCA417705486MMACHCc.297A>C (p.Ile99=)
c.126A>C (p.Ile42=)
c.102A>C (p.Ile34=)
 ClinVar
1g.45508232A>GCA340132132MMACHCc.297A>G (p.Ile99Met)
c.126A>G (p.Ile42Met)
c.102A>G (p.Ile34Met)
 gnomAD v4
1g.45508232A>TCA417705487MMACHCc.297A>T (p.Ile99=)
c.126A>T (p.Ile42=)
c.102A>T (p.Ile34=)
1g.45508233G>ACA340132134MMACHCc.298G>A (p.Glu100Lys)
c.127G>A (p.Glu43Lys)
c.103G>A (p.Glu35Lys)
1g.45508233G>CCA340132135MMACHCc.298G>C (p.Glu100Gln)
c.127G>C (p.Glu43Gln)
c.103G>C (p.Glu35Gln)
1g.45508233G>TCA340132133MMACHCc.298G>T (p.Glu100Ter)
c.127G>T (p.Glu43Ter)
c.103G>T (p.Glu35Ter)
1g.45508234A>CCA340132136MMACHCc.299A>C (p.Glu100Ala)
c.128A>C (p.Glu43Ala)
c.104A>C (p.Glu35Ala)
1g.45508234A>GCA340132137MMACHCc.299A>G (p.Glu100Gly)
c.128A>G (p.Glu43Gly)
c.104A>G (p.Glu35Gly)
1g.45508234A>TCA340132138MMACHCc.299A>T (p.Glu100Val)
c.128A>T (p.Glu43Val)
c.104A>T (p.Glu35Val)
1g.45508235A>CCA340132139MMACHCc.300A>C (p.Glu100Asp)
c.129A>C (p.Glu43Asp)
c.105A>C (p.Glu35Asp)
1g.45508235A>GCA417705488MMACHCc.300A>G (p.Glu100=)
c.129A>G (p.Glu43=)
c.105A>G (p.Glu35=)
1g.45508235A>TCA340132140MMACHCc.300A>T (p.Glu100Asp)
c.129A>T (p.Glu43Asp)
c.105A>T (p.Glu35Asp)
1g.45508236A>CCA340132141MMACHCc.301A>C (p.Ile101Leu)
c.130A>C (p.Ile44Leu)
c.106A>C (p.Ile36Leu)
1g.45508236A>GCA340132142MMACHCc.301A>G (p.Ile101Val)
c.130A>G (p.Ile44Val)
c.106A>G (p.Ile36Val)
 COSMIC
1g.45508236A>TCA340132143MMACHCc.301A>T (p.Ile101Phe)
c.130A>T (p.Ile44Phe)
c.106A>T (p.Ile36Phe)
1g.45508237T>ACA340132144MMACHCc.302T>A (p.Ile101Asn)
c.131T>A (p.Ile44Asn)
c.107T>A (p.Ile36Asn)
1g.45508237T>CCA340132145MMACHCc.302T>C (p.Ile101Thr)
c.131T>C (p.Ile44Thr)
c.107T>C (p.Ile36Thr)
1g.45508237T>GCA340132146MMACHCc.302T>G (p.Ile101Ser)
c.131T>G (p.Ile44Ser)
c.107T>G (p.Ile36Ser)
1g.45508238C>ACA417705489MMACHCc.303C>A (p.Ile101=)
c.132C>A (p.Ile44=)
c.108C>A (p.Ile36=)
 gnomAD v4
1g.45508238C>GCA340132147MMACHCc.303C>G (p.Ile101Met)
c.132C>G (p.Ile44Met)
c.108C>G (p.Ile36Met)
1g.45508238C>TCA417705490MMACHCc.303C>T (p.Ile101=)
c.132C>T (p.Ile44=)
c.108C>T (p.Ile36=)
1g.45508239A=CA2473783350MMACHCc.304A= (p.Ile102=)
c.133A= (p.Ile45=)
c.109A= (p.Ile37=)
1g.45508239A>CCA340132149MMACHCc.304A>C (p.Ile102Leu)
c.133A>C (p.Ile45Leu)
c.109A>C (p.Ile37Leu)
1g.45508239A>GCA827698MMACHCc.304A>G (p.Ile102Val)
c.133A>G (p.Ile45Val)
c.109A>G (p.Ile37Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508239A>TCA340132148MMACHCc.304A>T (p.Ile102Phe)
c.133A>T (p.Ile45Phe)
c.109A>T (p.Ile37Phe)
1g.45508240T>ACA340132150MMACHCc.305T>A (p.Ile102Asn)
c.134T>A (p.Ile45Asn)
c.110T>A (p.Ile37Asn)
1g.45508240T>CCA340132151MMACHCc.305T>C (p.Ile102Thr)
c.134T>C (p.Ile45Thr)
c.110T>C (p.Ile37Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.45508240T>GCA340132152MMACHCc.305T>G (p.Ile102Ser)
c.134T>G (p.Ile45Ser)
c.110T>G (p.Ile37Ser)
1g.45508240T=CA2473783351MMACHCc.305T= (p.Ile102=)
c.134T= (p.Ile45=)
c.110T= (p.Ile37=)
1g.45508241T>ACA417705491MMACHCc.306T>A (p.Ile102=)
c.135T>A (p.Ile45=)
c.111T>A (p.Ile37=)
1g.45508241T>CCA417705492MMACHCc.306T>C (p.Ile102=)
c.135T>C (p.Ile45=)
c.111T>C (p.Ile37=)
1g.45508241T>GCA340132153MMACHCc.306T>G (p.Ile102Met)
c.135T>G (p.Ile45Met)
c.111T>G (p.Ile37Met)
1g.45508242G>ACA340132154MMACHCc.307G>A (p.Ala103Thr)
c.136G>A (p.Ala46Thr)
c.112G>A (p.Ala38Thr)
1g.45508242G>CCA340132155MMACHCc.307G>C (p.Ala103Pro)
c.136G>C (p.Ala46Pro)
c.112G>C (p.Ala38Pro)
1g.45508242G>TCA340132156MMACHCc.307G>T (p.Ala103Ser)
c.136G>T (p.Ala46Ser)
c.112G>T (p.Ala38Ser)
1g.45508242_45508246delCA913075129MMACHCc.307_311del (p.Ala103LeufsTer?)
c.136_140del (p.Ala46LeufsTer?)
c.112_116del (p.Ala38LeufsTer?)
1g.45508242_45508246delinsGCTGACA2473783352MMACHCc.307_311delinsGCTGA (p.Ala103=)
c.136_140delinsGCTGA (p.Ala46=)
c.112_116delinsGCTGA (p.Ala38=)
1g.45508243C>ACA340132157MMACHCc.308C>A (p.Ala103Asp)
c.137C>A (p.Ala46Asp)
c.113C>A (p.Ala38Asp)
1g.45508243C>GCA340132158MMACHCc.308C>G (p.Ala103Gly)
c.137C>G (p.Ala46Gly)
c.113C>G (p.Ala38Gly)
1g.45508243C>TCA340132159MMACHCc.308C>T (p.Ala103Val)
c.137C>T (p.Ala46Val)
c.113C>T (p.Ala38Val)
1g.45508245_45508248delCA658821023MMACHCc.310_313del (p.Asp104ThrfsTer19)
c.139_142del (p.Asp47ThrfsTer19)
c.115_118del (p.Asp39ThrfsTer19)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45508244T>ACA417705493MMACHCc.309T>A (p.Ala103=)
c.138T>A (p.Ala46=)
c.114T>A (p.Ala38=)
1g.45508244T>CCA417705494MMACHCc.309T>C (p.Ala103=)
c.138T>C (p.Ala46=)
c.114T>C (p.Ala38=)
1g.45508244T>GCA417705495MMACHCc.309T>G (p.Ala103=)
c.138T>G (p.Ala46=)
c.114T>G (p.Ala38=)
1g.45508245G>ACA827699MMACHCc.310G>A (p.Asp104Asn)
c.139G>A (p.Asp47Asn)
c.115G>A (p.Asp39Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508245G>CCA340132160MMACHCc.310G>C (p.Asp104His)
c.139G>C (p.Asp47His)
c.115G>C (p.Asp39His)
1g.45508245G=CA2473783353MMACHCc.310G= (p.Asp104=)
c.139G= (p.Asp47=)
c.115G= (p.Asp39=)
1g.45508245G>TCA340132161MMACHCc.310G>T (p.Asp104Tyr)
c.139G>T (p.Asp47Tyr)
c.115G>T (p.Asp39Tyr)
1g.45508245_45508248delinsGACTCA2473783354MMACHCc.310_313delinsGACT (p.Asp104=)
c.139_142delinsGACT (p.Asp47=)
c.115_118delinsGACT (p.Asp39=)
1g.45508246A=CA2473783355MMACHCc.311A= (p.Asp104=)
c.140A= (p.Asp47=)
c.116A= (p.Asp39=)
1g.45508246A>CCA340132163MMACHCc.311A>C (p.Asp104Ala)
c.140A>C (p.Asp47Ala)
c.116A>C (p.Asp39Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.45508246A>GCA340132164MMACHCc.311A>G (p.Asp104Gly)
c.140A>G (p.Asp47Gly)
c.116A>G (p.Asp39Gly)
1g.45508246A>TCA340132162MMACHCc.311A>T (p.Asp104Val)
c.140A>T (p.Asp47Val)
c.116A>T (p.Asp39Val)
 ClinVar dbSNP gnomAD v4
1g.45508248_45508250delCA522810651MMACHCc.313_315del (p.Tyr105del)
c.142_144del (p.Tyr48del)
c.118_120del (p.Tyr40del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508247C>ACA340132166MMACHCc.312C>A (p.Asp104Glu)
c.141C>A (p.Asp47Glu)
c.117C>A (p.Asp39Glu)
1g.45508247C>GCA340132165MMACHCc.312C>G (p.Asp104Glu)
c.141C>G (p.Asp47Glu)
c.117C>G (p.Asp39Glu)
1g.45508247C>TCA417705496MMACHCc.312C>T (p.Asp104=)
c.141C>T (p.Asp47=)
c.117C>T (p.Asp39=)
 ClinVar gnomAD v4
1g.45508248T>ACA340132167MMACHCc.313T>A (p.Tyr105Asn)
c.142T>A (p.Tyr48Asn)
c.118T>A (p.Tyr40Asn)
1g.45508248T>CCA340132168MMACHCc.313T>C (p.Tyr105His)
c.142T>C (p.Tyr48His)
c.118T>C (p.Tyr40His)
1g.45508248T>GCA340132169MMACHCc.313T>G (p.Tyr105Asp)
c.142T>G (p.Tyr48Asp)
c.118T>G (p.Tyr40Asp)
1g.45508249A>CCA340132170MMACHCc.314A>C (p.Tyr105Ser)
c.143A>C (p.Tyr48Ser)
c.119A>C (p.Tyr40Ser)
1g.45508249A>GCA340132171MMACHCc.314A>G (p.Tyr105Cys)
c.143A>G (p.Tyr48Cys)
c.119A>G (p.Tyr40Cys)
1g.45508249A>TCA340132172MMACHCc.314A>T (p.Tyr105Phe)
c.143A>T (p.Tyr48Phe)
c.119A>T (p.Tyr40Phe)
1g.45508250C>ACA340132173MMACHCc.315C>A (p.Tyr105Ter)
c.144C>A (p.Tyr48Ter)
c.120C>A (p.Tyr40Ter)
 ClinVar dbSNP
1g.45508250C=CA1144347614MMACHCc.315C= (p.Tyr105=)
c.144C= (p.Tyr48=)
c.120C= (p.Tyr40=)
1g.45508250C>GCA340132174MMACHCc.315C>G (p.Tyr105Ter)
c.144C>G (p.Tyr48Ter)
c.120C>G (p.Tyr40Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45508250C>TCA827700MMACHCc.315C>T (p.Tyr105=)
c.144C>T (p.Tyr48=)
c.120C>T (p.Tyr40=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508251G>ACA312730MMACHCc.316G>A (p.Glu106Lys)
c.145G>A (p.Glu49Lys)
c.121G>A (p.Glu41Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508251G>CCA340132175MMACHCc.316G>C (p.Glu106Gln)
c.145G>C (p.Glu49Gln)
c.121G>C (p.Glu41Gln)
1g.45508251G=CA1143494261MMACHCc.316G= (p.Glu106=)
c.145G= (p.Glu49=)
c.121G= (p.Glu41=)
1g.45508251G>TCA340132176MMACHCc.316G>T (p.Glu106Ter)
c.145G>T (p.Glu49Ter)
c.121G>T (p.Glu41Ter)
1g.45508252A>CCA340132179MMACHCc.317A>C (p.Glu106Ala)
c.146A>C (p.Glu49Ala)
c.122A>C (p.Glu41Ala)
 COSMIC
1g.45508252A>GCA340132177MMACHCc.317A>G (p.Glu106Gly)
c.146A>G (p.Glu49Gly)
c.122A>G (p.Glu41Gly)
1g.45508252A>TCA340132178MMACHCc.317A>T (p.Glu106Val)
c.146A>T (p.Glu49Val)
c.122A>T (p.Glu41Val)
1g.45508253G>ACA417705497MMACHCc.318G>A (p.Glu106=)
c.147G>A (p.Glu49=)
c.123G>A (p.Glu41=)
 ClinVar COSMIC
1g.45508253G>CCA340132180MMACHCc.318G>C (p.Glu106Asp)
c.147G>C (p.Glu49Asp)
c.123G>C (p.Glu41Asp)
1g.45508253G>TCA340132181MMACHCc.318G>T (p.Glu106Asp)
c.147G>T (p.Glu49Asp)
c.123G>T (p.Glu41Asp)
1g.45508254G>ACA827701MMACHCc.319G>A (p.Val107Met)
c.148G>A (p.Val50Met)
c.124G>A (p.Val42Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508254G>CCA340132182MMACHCc.319G>C (p.Val107Leu)
c.148G>C (p.Val50Leu)
c.124G>C (p.Val42Leu)
1g.45508254G=CA2473783356MMACHCc.319G= (p.Val107=)
c.148G= (p.Val50=)
c.124G= (p.Val42=)
1g.45508254G>TCA340132183MMACHCc.319G>T (p.Val107Leu)
c.148G>T (p.Val50Leu)
c.124G>T (p.Val42Leu)
1g.45508255T>ACA340132184MMACHCc.320T>A (p.Val107Glu)
c.149T>A (p.Val50Glu)
c.125T>A (p.Val42Glu)
1g.45508255T>CCA340132185MMACHCc.320T>C (p.Val107Ala)
c.149T>C (p.Val50Ala)
c.125T>C (p.Val42Ala)
1g.45508255T>GCA340132186MMACHCc.320T>G (p.Val107Gly)
c.149T>G (p.Val50Gly)
c.125T>G (p.Val42Gly)
1g.45508256G>ACA285689MMACHCc.321G>A (p.Val107=)
c.150G>A (p.Val50=)
c.126G>A (p.Val42=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508256G>CCA417705499MMACHCc.321G>C (p.Val107=)
c.150G>C (p.Val50=)
c.126G>C (p.Val42=)
 dbSNP
1g.45508256G=CA1139925561MMACHCc.321G= (p.Val107=)
c.150G= (p.Val50=)
c.126G= (p.Val42=)
1g.45508256G>TCA417705498MMACHCc.321G>T (p.Val107=)
c.150G>T (p.Val50=)
c.126G>T (p.Val42=)
1g.45508256_45508264delinsACACCCA2580611161MMACHCc.321_329delinsACACC (p.Asn110AspfsTer13)
c.150_158delinsACACC (p.Asn53AspfsTer13)
c.126_134delinsACACC (p.Asn45AspfsTer13)
 ClinVar
1g.45508257C>ACA340132187MMACHCc.322C>A (p.His108Asn)
c.151C>A (p.His51Asn)
c.127C>A (p.His43Asn)
1g.45508257C=CA2473783357MMACHCc.322C= (p.His108=)
c.151C= (p.His51=)
c.127C= (p.His43=)
1g.45508257C>GCA340132188MMACHCc.322C>G (p.His108Asp)
c.151C>G (p.His51Asp)
c.127C>G (p.His43Asp)
1g.45508257C>TCA340132189MMACHCc.322C>T (p.His108Tyr)
c.151C>T (p.His51Tyr)
c.127C>T (p.His43Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.45508258A>CCA340132192MMACHCc.323A>C (p.His108Pro)
c.152A>C (p.His51Pro)
c.128A>C (p.His43Pro)
1g.45508258A>GCA340132191MMACHCc.323A>G (p.His108Arg)
c.152A>G (p.His51Arg)
c.128A>G (p.His43Arg)
 gnomAD v4
1g.45508258A>TCA340132190MMACHCc.323A>T (p.His108Leu)
c.152A>T (p.His51Leu)
c.128A>T (p.His43Leu)
1g.45508259C>ACA340132193MMACHCc.324C>A (p.His108Gln)
c.153C>A (p.His51Gln)
c.129C>A (p.His43Gln)
1g.45508259C>GCA340132194MMACHCc.324C>G (p.His108Gln)
c.153C>G (p.His51Gln)
c.129C>G (p.His43Gln)
1g.45508259C>TCA417705500MMACHCc.324C>T (p.His108=)
c.153C>T (p.His51=)
c.129C>T (p.His43=)
1g.45508262delCA2645391254MMACHCc.327del (p.Asn110ThrfsTer14)
c.156del (p.Asn53ThrfsTer14)
c.132del (p.Asn45ThrfsTer14)
 gnomAD v4
1g.45508260C>ACA340132195MMACHCc.325C>A (p.Pro109Thr)
c.154C>A (p.Pro52Thr)
c.130C>A (p.Pro44Thr)
1g.45508260C=CA2473783359MMACHCc.325C= (p.Pro109=)
c.154C= (p.Pro52=)
c.130C= (p.Pro44=)
1g.45508260C>GCA340132196MMACHCc.325C>G (p.Pro109Ala)
c.154C>G (p.Pro52Ala)
c.130C>G (p.Pro44Ala)
1g.45508260C>TCA340132197MMACHCc.325C>T (p.Pro109Ser)
c.154C>T (p.Pro52Ser)
c.130C>T (p.Pro44Ser)
1g.45508260_45508264delinsCCCAACA2473783358MMACHCc.325_329delinsCCCAA (p.Pro109=)
c.154_158delinsCCCAA (p.Pro52=)
c.130_134delinsCCCAA (p.Pro44=)
1g.45508261C>ACA340132198MMACHCc.326C>A (p.Pro109His)
c.155C>A (p.Pro52His)
c.131C>A (p.Pro44His)
1g.45508261C=CA1148444789MMACHCc.326C= (p.Pro109=)
c.155C= (p.Pro52=)
c.131C= (p.Pro44=)
1g.45508261C>GCA340132199MMACHCc.326C>G (p.Pro109Arg)
c.155C>G (p.Pro52Arg)
c.131C>G (p.Pro44Arg)
1g.45508261C>TCA827702MMACHCc.326C>T (p.Pro109Leu)
c.155C>T (p.Pro52Leu)
c.131C>T (p.Pro44Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508261_45508262insATTGCTGACCA736190161MMACHCc.326_327insATTGCTGAC (p.Pro109_Asn110insLeuLeuThr)
c.155_156insATTGCTGAC (p.Pro52_Asn53insLeuLeuThr)
c.131_132insATTGCTGAC (p.Pro44_Asn45insLeuLeuThr)
 dbSNP
1g.45508263_45508266delCA312742MMACHCc.328_331del (p.Asn110AspfsTer13)
c.157_160del (p.Asn53AspfsTer13)
c.133_136del (p.Asn45AspfsTer13)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508261_45508262insATTGCA1001243618MMACHCc.326_327insATTG (p.Asn110LeufsTer30)
c.155_156insATTG (p.Asn53LeufsTer30)
c.131_132insATTG (p.Asn45LeufsTer30)
 dbSNP gnomAD v3 gnomAD v4
1g.45508262C>ACA417705501MMACHCc.327C>A (p.Pro109=)
c.156C>A (p.Pro52=)
c.132C>A (p.Pro44=)
1g.45508262C=CA2473783360MMACHCc.327C= (p.Pro109=)
c.156C= (p.Pro52=)
c.132C= (p.Pro44=)
1g.45508262C>GCA417705502MMACHCc.327C>G (p.Pro109=)
c.156C>G (p.Pro52=)
c.132C>G (p.Pro44=)
1g.45508262C>TCA417705503MMACHCc.327C>T (p.Pro109=)
c.156C>T (p.Pro52=)
c.132C>T (p.Pro44=)
 dbSNP
1g.45508262_45508264delinsATTGCTGACTACCA2573051583MMACHCc.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)
c.156_158delinsATTGCTGACTAC (p.Asn53delinsLeuLeuThrThr)
c.132_134delinsATTGCTGACTAC (p.Asn45delinsLeuLeuThrThr)
 ClinVar dbSNP
1g.45508262_45508263insTGACTCA1001243631MMACHCc.327_328insTGACT (p.Asn110Ter)
c.156_157insTGACT (p.Asn53Ter)
c.132_133insTGACT (p.Asn45Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.45508263A=CA1144988325MMACHCc.328A= (p.Asn110=)
c.157A= (p.Asn53=)
c.133A= (p.Asn45=)
1g.45508263A>CCA827703MMACHCc.328A>C (p.Asn110His)
c.157A>C (p.Asn53His)
c.133A>C (p.Asn45His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508263A>GCA340132200MMACHCc.328A>G (p.Asn110Asp)
c.157A>G (p.Asn53Asp)
c.133A>G (p.Asn45Asp)
1g.45508263A>TCA340132201MMACHCc.328A>T (p.Asn110Tyr)
c.157A>T (p.Asn53Tyr)
c.133A>T (p.Asn45Tyr)
1g.45508264A=CA2473783361MMACHCc.329A= (p.Asn110=)
c.158A= (p.Asn53=)
c.134A= (p.Asn45=)
1g.45508264A>CCA340132203MMACHCc.329A>C (p.Asn110Thr)
c.158A>C (p.Asn53Thr)
c.134A>C (p.Asn45Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.45508264A>GCA827704MMACHCc.329A>G (p.Asn110Ser)
c.158A>G (p.Asn53Ser)
c.134A>G (p.Asn45Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508264A>TCA340132202MMACHCc.329A>T (p.Asn110Ile)
c.158A>T (p.Asn53Ile)
c.134A>T (p.Asn45Ile)
1g.45508265C>ACA340132204MMACHCc.330C>A (p.Asn110Lys)
c.159C>A (p.Asn53Lys)
c.135C>A (p.Asn45Lys)
1g.45508265C>GCA340132205MMACHCc.330C>G (p.Asn110Lys)
c.159C>G (p.Asn53Lys)
c.135C>G (p.Asn45Lys)
1g.45508265C>TCA417705504MMACHCc.330C>T (p.Asn110=)
c.159C>T (p.Asn53=)
c.135C>T (p.Asn45=)
1g.45508266C>ACA417705505MMACHCc.331C>A (p.Arg111=)
c.160C>A (p.Arg54=)
c.136C>A (p.Arg46=)
1g.45508266C=CA1141580768MMACHCc.331C= (p.Arg111=)
c.160C= (p.Arg54=)
c.136C= (p.Arg46=)
1g.45508266C>GCA340132206MMACHCc.331C>G (p.Arg111Gly)
c.160C>G (p.Arg54Gly)
c.136C>G (p.Arg46Gly)
1g.45508266C>TCA251789MMACHCc.331C>T (p.Arg111Ter)
c.160C>T (p.Arg54Ter)
c.136C>T (p.Arg46Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508267G>ACA827705MMACHCc.332G>A (p.Arg111Gln)
c.161G>A (p.Arg54Gln)
c.137G>A (p.Arg46Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508267G>CCA340132208MMACHCc.332G>C (p.Arg111Pro)
c.161G>C (p.Arg54Pro)
c.137G>C (p.Arg46Pro)
1g.45508267G=CA1143408233MMACHCc.332G= (p.Arg111=)
c.161G= (p.Arg54=)
c.137G= (p.Arg46=)
1g.45508267G>TCA340132207MMACHCc.332G>T (p.Arg111Leu)
c.161G>T (p.Arg54Leu)
c.137G>T (p.Arg46Leu)
1g.45508268A>CCA417705506MMACHCc.333A>C (p.Arg111=)
c.162A>C (p.Arg54=)
c.138A>C (p.Arg46=)
1g.45508268A>GCA417705507MMACHCc.333A>G (p.Arg111=)
c.162A>G (p.Arg54=)
c.138A>G (p.Arg46=)
1g.45508268A>TCA417705508MMACHCc.333A>T (p.Arg111=)
c.162A>T (p.Arg54=)
c.138A>T (p.Arg46=)
1g.45508269C>ACA340132209MMACHCc.334C>A (p.Arg112Ser)
c.163C>A (p.Arg55Ser)
c.139C>A (p.Arg47Ser)
1g.45508269C=CA1142953359MMACHCc.334C= (p.Arg112=)
c.163C= (p.Arg55=)
c.139C= (p.Arg47=)
1g.45508269C>GCA340132210MMACHCc.334C>G (p.Arg112Gly)
c.163C>G (p.Arg55Gly)
c.139C>G (p.Arg47Gly)
1g.45508269C>TCA827706MMACHCc.334C>T (p.Arg112Cys)
c.163C>T (p.Arg55Cys)
c.139C>T (p.Arg47Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508270G>ACA827708MMACHCc.335G>A (p.Arg112His)
c.164G>A (p.Arg55His)
c.140G>A (p.Arg47His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508270G>CCA340132211MMACHCc.335G>C (p.Arg112Pro)
c.164G>C (p.Arg55Pro)
c.140G>C (p.Arg47Pro)
1g.45508270G=CA2473783362MMACHCc.335G= (p.Arg112=)
c.164G= (p.Arg55=)
c.140G= (p.Arg47=)
1g.45508270G>TCA827707MMACHCc.335G>T (p.Arg112Leu)
c.164G>T (p.Arg55Leu)
c.140G>T (p.Arg47Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508271C>ACA827709MMACHCc.336C>A (p.Arg112=)
c.165C>A (p.Arg55=)
c.141C>A (p.Arg47=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508271C=CA2473783363MMACHCc.336C= (p.Arg112=)
c.165C= (p.Arg55=)
c.141C= (p.Arg47=)
1g.45508271C>GCA417705509MMACHCc.336C>G (p.Arg112=)
c.165C>G (p.Arg55=)
c.141C>G (p.Arg47=)
1g.45508271C>TCA417705510MMACHCc.336C>T (p.Arg112=)
c.165C>T (p.Arg55=)
c.141C>T (p.Arg47=)
1g.45508272C>ACA340132213MMACHCc.337C>A (p.Pro113Thr)
c.166C>A (p.Pro56Thr)
c.142C>A (p.Pro48Thr)
1g.45508272C=CA2473783364MMACHCc.337C= (p.Pro113=)
c.166C= (p.Pro56=)
c.142C= (p.Pro48=)
1g.45508272C>GCA340132214MMACHCc.337C>G (p.Pro113Ala)
c.166C>G (p.Pro56Ala)
c.142C>G (p.Pro48Ala)
1g.45508272C>TCA340132212MMACHCc.337C>T (p.Pro113Ser)
c.166C>T (p.Pro56Ser)
c.142C>T (p.Pro48Ser)
 dbSNP
1g.45508273C>ACA340132216MMACHCc.338C>A (p.Pro113His)
c.167C>A (p.Pro56His)
c.143C>A (p.Pro48His)
1g.45508273C=CA2473783365MMACHCc.338C= (p.Pro113=)
c.167C= (p.Pro56=)
c.143C= (p.Pro48=)
1g.45508273C>GCA340132215MMACHCc.338C>G (p.Pro113Arg)
c.167C>G (p.Pro56Arg)
c.143C>G (p.Pro48Arg)
 gnomAD v4
1g.45508273C>TCA827710MMACHCc.338C>T (p.Pro113Leu)
c.167C>T (p.Pro56Leu)
c.143C>T (p.Pro48Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508274C>ACA417705511MMACHCc.339C>A (p.Pro113=)
c.168C>A (p.Pro56=)
c.144C>A (p.Pro48=)
1g.45508274C>GCA417705512MMACHCc.339C>G (p.Pro113=)
c.168C>G (p.Pro56=)
c.144C>G (p.Pro48=)
 ClinVar dbSNP
1g.45508274C>TCA417705513MMACHCc.339C>T (p.Pro113=)
c.168C>T (p.Pro56=)
c.144C>T (p.Pro48=)
1g.45508275A>CCA340132217MMACHCc.340A>C (p.Lys114Gln)
c.169A>C (p.Lys57Gln)
c.145A>C (p.Lys49Gln)
1g.45508275A>GCA340132219MMACHCc.340A>G (p.Lys114Glu)
c.169A>G (p.Lys57Glu)
c.145A>G (p.Lys49Glu)
1g.45508275A>TCA340132218MMACHCc.340A>T (p.Lys114Ter)
c.169A>T (p.Lys57Ter)
c.145A>T (p.Lys49Ter)
1g.45508276A=CA2473783366MMACHCc.341A= (p.Lys114=)
c.170A= (p.Lys57=)
c.146A= (p.Lys49=)
1g.45508276A>CCA340132220MMACHCc.341A>C (p.Lys114Thr)
c.170A>C (p.Lys57Thr)
c.146A>C (p.Lys49Thr)
1g.45508276A>GCA340132222MMACHCc.341A>G (p.Lys114Arg)
c.170A>G (p.Lys57Arg)
c.146A>G (p.Lys49Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.45508276A>TCA340132221MMACHCc.341A>T (p.Lys114Met)
c.170A>T (p.Lys57Met)
c.146A>T (p.Lys49Met)
1g.45508277G>ACA417705514MMACHCc.342G>A (p.Lys114=)
c.171G>A (p.Lys57=)
c.147G>A (p.Lys49=)
 gnomAD v4
1g.45508277G>CCA340132223MMACHCc.342G>C (p.Lys114Asn)
c.171G>C (p.Lys57Asn)
c.147G>C (p.Lys49Asn)
1g.45508277G>TCA340132224MMACHCc.342G>T (p.Lys114Asn)
c.171G>T (p.Lys57Asn)
c.147G>T (p.Lys49Asn)
1g.45508278A=CA2473783367MMACHCc.343A= (p.Ile115=)
c.172A= (p.Ile58=)
c.148A= (p.Ile50=)
1g.45508278A>CCA340132225MMACHCc.343A>C (p.Ile115Leu)
c.172A>C (p.Ile58Leu)
c.148A>C (p.Ile50Leu)
1g.45508278A>GCA21829311MMACHCc.343A>G (p.Ile115Val)
c.172A>G (p.Ile58Val)
c.148A>G (p.Ile50Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508278A>TCA340132226MMACHCc.343A>T (p.Ile115Phe)
c.172A>T (p.Ile58Phe)
c.148A>T (p.Ile50Phe)
 dbSNP
1g.45508279T>ACA340132227MMACHCc.344T>A (p.Ile115Asn)
c.173T>A (p.Ile58Asn)
c.149T>A (p.Ile50Asn)
1g.45508279T>CCA340132229MMACHCc.344T>C (p.Ile115Thr)
c.173T>C (p.Ile58Thr)
c.149T>C (p.Ile50Thr)
1g.45508279T>GCA340132228MMACHCc.344T>G (p.Ile115Ser)
c.173T>G (p.Ile58Ser)
c.149T>G (p.Ile50Ser)
1g.45508280C>ACA417705515MMACHCc.345C>A (p.Ile115=)
c.174C>A (p.Ile58=)
c.150C>A (p.Ile50=)
1g.45508280C=CA2473783368MMACHCc.345C= (p.Ile115=)
c.174C= (p.Ile58=)
c.150C= (p.Ile50=)
1g.45508280C>GCA340132230MMACHCc.345C>G (p.Ile115Met)
c.174C>G (p.Ile58Met)
c.150C>G (p.Ile50Met)
1g.45508280C>TCA417705516MMACHCc.345C>T (p.Ile115=)
c.174C>T (p.Ile58=)
c.150C>T (p.Ile50=)
 dbSNP gnomAD v2 gnomAD v4
1g.45508281C>ACA340132232MMACHCc.346C>A (p.Leu116Met)
c.175C>A (p.Leu59Met)
c.151C>A (p.Leu51Met)
 ClinVar dbSNP gnomAD v4
1g.45508281C>GCA340132231MMACHCc.346C>G (p.Leu116Val)
c.175C>G (p.Leu59Val)
c.151C>G (p.Leu51Val)
 ClinVar dbSNP gnomAD v4
1g.45508281C>TCA417705517MMACHCc.346C>T (p.Leu116=)
c.175C>T (p.Leu59=)
c.151C>T (p.Leu51=)
1g.45508282T>ACA340132233MMACHCc.347T>A (p.Leu116Gln)
c.176T>A (p.Leu59Gln)
c.152T>A (p.Leu51Gln)
1g.45508282T>CCA251786MMACHCc.347T>C (p.Leu116Pro)
c.176T>C (p.Leu59Pro)
c.152T>C (p.Leu51Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508282T>GCA340132234MMACHCc.347T>G (p.Leu116Arg)
c.176T>G (p.Leu59Arg)
c.152T>G (p.Leu51Arg)
1g.45508282T=CA1141580769MMACHCc.347T= (p.Leu116=)
c.176T= (p.Leu59=)
c.152T= (p.Leu51=)
1g.45508283G>ACA417705518MMACHCc.348G>A (p.Leu116=)
c.177G>A (p.Leu59=)
c.153G>A (p.Leu51=)
1g.45508283G>CCA417705519MMACHCc.348G>C (p.Leu116=)
c.177G>C (p.Leu59=)
c.153G>C (p.Leu51=)
1g.45508283G>TCA417705520MMACHCc.348G>T (p.Leu116=)
c.177G>T (p.Leu59=)
c.153G>T (p.Leu51=)
1g.45508283_45508295delinsGGCCCAGACAGCACA2473783369MMACHCc.348_360delinsGGCCCAGACAGCA (p.Leu116=)
c.177_189delinsGGCCCAGACAGCA (p.Leu59=)
c.153_165delinsGGCCCAGACAGCA (p.Leu51=)
1g.45508284G>ACA340132235MMACHCc.349G>A (p.Ala117Thr)
c.178G>A (p.Ala60Thr)
c.154G>A (p.Ala52Thr)
1g.45508284G>CCA827712MMACHCc.349G>C (p.Ala117Pro)
c.178G>C (p.Ala60Pro)
c.154G>C (p.Ala52Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508284G=CA2473783370MMACHCc.349G= (p.Ala117=)
c.178G= (p.Ala60=)
c.154G= (p.Ala52=)
1g.45508284G>TCA340132236MMACHCc.349G>T (p.Ala117Ser)
c.178G>T (p.Ala60Ser)
c.154G>T (p.Ala52Ser)
1g.45508284_45508285delinsGCCA2473783371MMACHCc.349_350delinsGC (p.Ala117=)
c.178_179delinsGC (p.Ala60=)
c.154_155delinsGC (p.Ala52=)
1g.45508289_45508300dupCA2586966635MMACHCc.354_365dup (p.Ala121_His122insGlnThrAlaAla)
c.183_194dup (p.Ala64_His65insGlnThrAlaAla)
c.159_170dup (p.Ala56_His57insGlnThrAlaAla)
 gnomAD v4
1g.45508289_45508300delCA916082027MMACHCc.354_365del (p.Gln118_Ala121del)
c.183_194del (p.Gln61_Ala64del)
c.159_170del (p.Gln53_Ala56del)
 ClinVar dbSNP
1g.45508285C>ACA340132237MMACHCc.350C>A (p.Ala117Asp)
c.179C>A (p.Ala60Asp)
c.155C>A (p.Ala52Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.45508285C=CA1143610028MMACHCc.350C= (p.Ala117=)
c.179C= (p.Ala60=)
c.155C= (p.Ala52=)
1g.45508285C>GCA340132238MMACHCc.350C>G (p.Ala117Gly)
c.179C>G (p.Ala60Gly)
c.155C>G (p.Ala52Gly)
 gnomAD v4
1g.45508285C>TCA827713MMACHCc.350C>T (p.Ala117Val)
c.179C>T (p.Ala60Val)
c.155C>T (p.Ala52Val)
 dbSNP ExAC gnomAD v2
1g.45508285_45508287delinsCCCCA1149103828MMACHCc.350_352delinsCCC (p.Ala117=)
c.179_181delinsCCC (p.Ala60=)
c.155_157delinsCCC (p.Ala52=)
1g.45508287delCA827711MMACHCc.352del (p.Gln118ArgfsTer6)
c.181del (p.Gln61ArgfsTer6)
c.157del (p.Gln53ArgfsTer6)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508286C>ACA417705521MMACHCc.351C>A (p.Ala117=)
c.180C>A (p.Ala60=)
c.156C>A (p.Ala52=)
1g.45508286C>GCA417705522MMACHCc.351C>G (p.Ala117=)
c.180C>G (p.Ala60=)
c.156C>G (p.Ala52=)
1g.45508286C>TCA417705523MMACHCc.351C>T (p.Ala117=)
c.180C>T (p.Ala60=)
c.156C>T (p.Ala52=)
1g.45508287C>ACA340132241MMACHCc.352C>A (p.Gln118Lys)
c.181C>A (p.Gln61Lys)
c.157C>A (p.Gln53Lys)
1g.45508287C>GCA340132240MMACHCc.352C>G (p.Gln118Glu)
c.181C>G (p.Gln61Glu)
c.157C>G (p.Gln53Glu)
1g.45508287C>TCA340132239MMACHCc.352C>T (p.Gln118Ter)
c.181C>T (p.Gln61Ter)
c.157C>T (p.Gln53Ter)
 ClinVar dbSNP
1g.45508288A>CCA340132242MMACHCc.353A>C (p.Gln118Pro)
c.182A>C (p.Gln61Pro)
c.158A>C (p.Gln53Pro)
1g.45508288A>GCA340132243MMACHCc.353A>G (p.Gln118Arg)
c.182A>G (p.Gln61Arg)
c.158A>G (p.Gln53Arg)
 gnomAD v4
1g.45508288A>TCA340132244MMACHCc.353A>T (p.Gln118Leu)
c.182A>T (p.Gln61Leu)
c.158A>T (p.Gln53Leu)
1g.45508289G>ACA827714MMACHCc.354G>A (p.Gln118=)
c.183G>A (p.Gln61=)
c.159G>A (p.Gln53=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508289G>CCA340132245MMACHCc.354G>C (p.Gln118His)
c.183G>C (p.Gln61His)
c.159G>C (p.Gln53His)
1g.45508289G=CA2473783372MMACHCc.354G= (p.Gln118=)
c.183G= (p.Gln61=)
c.159G= (p.Gln53=)
1g.45508289G>TCA340132246MMACHCc.354G>T (p.Gln118His)
c.183G>T (p.Gln61His)
c.159G>T (p.Gln53His)
1g.45508290A=CA2473783373MMACHCc.355A= (p.Thr119=)
c.184A= (p.Thr62=)
c.160A= (p.Thr54=)
1g.45508290A>CCA827716MMACHCc.355A>C (p.Thr119Pro)
c.184A>C (p.Thr62Pro)
c.160A>C (p.Thr54Pro)
 dbSNP ExAC gnomAD v2
1g.45508290A>GCA827715MMACHCc.355A>G (p.Thr119Ala)
c.184A>G (p.Thr62Ala)
c.160A>G (p.Thr54Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508290A>TCA340132247MMACHCc.355A>T (p.Thr119Ser)
c.184A>T (p.Thr62Ser)
c.160A>T (p.Thr54Ser)
1g.45508291C>ACA21829325MMACHCc.356C>A (p.Thr119Lys)
c.185C>A (p.Thr62Lys)
c.161C>A (p.Thr54Lys)
 dbSNP
1g.45508291C=CA2473783374MMACHCc.356C= (p.Thr119=)
c.185C= (p.Thr62=)
c.161C= (p.Thr54=)
1g.45508291C>GCA340132248MMACHCc.356C>G (p.Thr119Arg)
c.185C>G (p.Thr62Arg)
c.161C>G (p.Thr54Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508291C>TCA340132249MMACHCc.356C>T (p.Thr119Ile)
c.185C>T (p.Thr62Ile)
c.161C>T (p.Thr54Ile)
1g.45508292A>CCA417705524MMACHCc.357A>C (p.Thr119=)
c.186A>C (p.Thr62=)
c.162A>C (p.Thr54=)
1g.45508292A>GCA417705525MMACHCc.357A>G (p.Thr119=)
c.186A>G (p.Thr62=)
c.162A>G (p.Thr54=)
 gnomAD v4
1g.45508292A>TCA417705526MMACHCc.357A>T (p.Thr119=)
c.186A>T (p.Thr62=)
c.162A>T (p.Thr54=)
1g.45508293G>ACA340132251MMACHCc.358G>A (p.Ala120Thr)
c.187G>A (p.Ala63Thr)
c.163G>A (p.Ala55Thr)
 dbSNP
1g.45508293G>CCA340132250MMACHCc.358G>C (p.Ala120Pro)
c.187G>C (p.Ala63Pro)
c.163G>C (p.Ala55Pro)
1g.45508293G=CA2473783375MMACHCc.358G= (p.Ala120=)
c.187G= (p.Ala63=)
c.163G= (p.Ala55=)
1g.45508293G>TCA21829328MMACHCc.358G>T (p.Ala120Ser)
c.187G>T (p.Ala63Ser)
c.163G>T (p.Ala55Ser)
 ClinVar dbSNP gnomAD v4
1g.45508294C>ACA340132254MMACHCc.359C>A (p.Ala120Glu)
c.188C>A (p.Ala63Glu)
c.164C>A (p.Ala55Glu)
1g.45508294C>GCA340132252MMACHCc.359C>G (p.Ala120Gly)
c.188C>G (p.Ala63Gly)
c.164C>G (p.Ala55Gly)
1g.45508294C>TCA340132253MMACHCc.359C>T (p.Ala120Val)
c.188C>T (p.Ala63Val)
c.164C>T (p.Ala55Val)
1g.45508295A>CCA417705528MMACHCc.360A>C (p.Ala120=)
c.189A>C (p.Ala63=)
c.165A>C (p.Ala55=)
 ClinVar
1g.45508295A>GCA417705529MMACHCc.360A>G (p.Ala120=)
c.189A>G (p.Ala63=)
c.165A>G (p.Ala55=)
1g.45508295A>TCA417705527MMACHCc.360A>T (p.Ala120=)
c.189A>T (p.Ala63=)
c.165A>T (p.Ala55=)
1g.45508296G>ACA340132255MMACHCc.361G>A (p.Ala121Thr)
c.190G>A (p.Ala64Thr)
c.166G>A (p.Ala56Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.45508296G>CCA340132256MMACHCc.361G>C (p.Ala121Pro)
c.190G>C (p.Ala64Pro)
c.166G>C (p.Ala56Pro)
 gnomAD v4
1g.45508296G=CA2473783376MMACHCc.361G= (p.Ala121=)
c.190G= (p.Ala64=)
c.166G= (p.Ala56=)
1g.45508296G>TCA340132257MMACHCc.361G>T (p.Ala121Ser)
c.190G>T (p.Ala64Ser)
c.166G>T (p.Ala56Ser)
 gnomAD v4
1g.45508297C>ACA340132258MMACHCc.362C>A (p.Ala121Asp)
c.191C>A (p.Ala64Asp)
c.167C>A (p.Ala56Asp)
1g.45508297C=CA2473783377MMACHCc.362C= (p.Ala121=)
c.191C= (p.Ala64=)
c.167C= (p.Ala56=)
1g.45508297C>GCA340132259MMACHCc.362C>G (p.Ala121Gly)
c.191C>G (p.Ala64Gly)
c.167C>G (p.Ala56Gly)
1g.45508297C>TCA340132260MMACHCc.362C>T (p.Ala121Val)
c.191C>T (p.Ala64Val)
c.167C>T (p.Ala56Val)
 dbSNP gnomAD v4
1g.45508299dupCA913189311MMACHCc.364dup (p.His122ProfsTer17)
c.193dup (p.His65ProfsTer17)
c.169dup (p.His57ProfsTer17)
 ClinVar dbSNP
1g.45508298C>ACA417705534MMACHCc.363C>A (p.Ala121=)
c.192C>A (p.Ala64=)
c.168C>A (p.Ala56=)
1g.45508298C>GCA417705533MMACHCc.363C>G (p.Ala121=)
c.192C>G (p.Ala64=)
c.168C>G (p.Ala56=)
1g.45508298C>TCA417705532MMACHCc.363C>T (p.Ala121=)
c.192C>T (p.Ala64=)
c.168C>T (p.Ala56=)
1g.45508299_45508322delCA2645391256MMACHCc.364_387del (p.His122_Tyr129del)
c.193_216del (p.His65_Tyr72del)
c.169_192del (p.His57_Tyr64del)
 gnomAD v4
1g.45508299C>ACA827717MMACHCc.364C>A (p.His122Asn)
c.193C>A (p.His65Asn)
c.169C>A (p.His57Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508299C=CA1143893619MMACHCc.364C= (p.His122=)
c.193C= (p.His65=)
c.169C= (p.His57=)
1g.45508299C>GCA340132261MMACHCc.364C>G (p.His122Asp)
c.193C>G (p.His65Asp)
c.169C>G (p.His57Asp)
1g.45508299C>TCA340132262MMACHCc.364C>T (p.His122Tyr)
c.193C>T (p.His65Tyr)
c.169C>T (p.His57Tyr)
 gnomAD v4
1g.45508300A=CA2473783378MMACHCc.365A= (p.His122=)
c.194A= (p.His65=)
c.170A= (p.His57=)
1g.45508300A>CCA340132263MMACHCc.365A>C (p.His122Pro)
c.194A>C (p.His65Pro)
c.170A>C (p.His57Pro)
1g.45508300A>GCA340132264MMACHCc.365A>G (p.His122Arg)
c.194A>G (p.His65Arg)
c.170A>G (p.His57Arg)
 gnomAD v4
1g.45508300A>TCA340132265MMACHCc.365A>T (p.His122Leu)
c.194A>T (p.His65Leu)
c.170A>T (p.His57Leu)
 dbSNP
1g.45508301T>ACA340132266MMACHCc.366T>A (p.His122Gln)
c.195T>A (p.His65Gln)
c.171T>A (p.His57Gln)
 ClinVar dbSNP
1g.45508301T>CCA417705536MMACHCc.366T>C (p.His122=)
c.195T>C (p.His65=)
c.171T>C (p.His57=)
 ClinVar dbSNP
1g.45508301T>GCA340132267MMACHCc.366T>G (p.His122Gln)
c.195T>G (p.His65Gln)
c.171T>G (p.His57Gln)
 ClinVar dbSNP
1g.45508301T=CA2473783379MMACHCc.366T= (p.His122=)
c.195T= (p.His65=)
c.171T= (p.His57=)
1g.45508302G>ACA340132268MMACHCc.367G>A (p.Val123Ile)
c.196G>A (p.Val66Ile)
c.172G>A (p.Val58Ile)
 gnomAD v4
1g.45508302G>CCA340132269MMACHCc.367G>C (p.Val123Leu)
c.196G>C (p.Val66Leu)
c.172G>C (p.Val58Leu)
1g.45508302G>TCA340132270MMACHCc.367G>T (p.Val123Leu)
c.196G>T (p.Val66Leu)
c.172G>T (p.Val58Leu)
1g.45508303T>ACA340132271MMACHCc.368T>A (p.Val123Glu)
c.197T>A (p.Val66Glu)
c.173T>A (p.Val58Glu)
1g.45508303T>CCA340132272MMACHCc.368T>C (p.Val123Ala)
c.197T>C (p.Val66Ala)
c.173T>C (p.Val58Ala)
1g.45508303T>GCA340132273MMACHCc.368T>G (p.Val123Gly)
c.197T>G (p.Val66Gly)
c.173T>G (p.Val58Gly)
1g.45508304_45508313delCA913075165MMACHCc.369_378del (p.Ala124LeufsTer?)
c.198_207del (p.Ala67LeufsTer?)
c.174_183del (p.Ala59LeufsTer?)
1g.45508304A=CA2473783381MMACHCc.369A= (p.Val123=)
c.198A= (p.Val66=)
c.174A= (p.Val58=)
1g.45508304A>CCA417705537MMACHCc.369A>C (p.Val123=)
c.198A>C (p.Val66=)
c.174A>C (p.Val58=)
 dbSNP gnomAD v3 gnomAD v4
1g.45508304A>GCA417705538MMACHCc.369A>G (p.Val123=)
c.198A>G (p.Val66=)
c.174A>G (p.Val58=)
 dbSNP
1g.45508304A>TCA417705539MMACHCc.369A>T (p.Val123=)
c.198A>T (p.Val66=)
c.174A>T (p.Val58=)
 ClinVar dbSNP
1g.45508304_45508313delinsAGCTGGGGCTCA2473783380MMACHCc.369_378delinsAGCTGGGGCT (p.Val123=)
c.198_207delinsAGCTGGGGCT (p.Val66=)
c.174_183delinsAGCTGGGGCT (p.Val58=)
1g.45508305G>ACA340132274MMACHCc.370G>A (p.Ala124Thr)
c.199G>A (p.Ala67Thr)
c.175G>A (p.Ala59Thr)
1g.45508305G>CCA340132275MMACHCc.370G>C (p.Ala124Pro)
c.199G>C (p.Ala67Pro)
c.175G>C (p.Ala59Pro)
1g.45508305G>TCA340132276MMACHCc.370G>T (p.Ala124Ser)
c.199G>T (p.Ala67Ser)
c.175G>T (p.Ala59Ser)
1g.45508308_45508316delCA658821024MMACHCc.373_381del (p.Gly125_Ala127del)
c.202_210del (p.Gly68_Ala70del)
c.178_186del (p.Gly60_Ala62del)
 ClinVar dbSNP
1g.45508306C>ACA340132277MMACHCc.371C>A (p.Ala124Asp)
c.200C>A (p.Ala67Asp)
c.176C>A (p.Ala59Asp)
1g.45508306C=CA1144090204MMACHCc.371C= (p.Ala124=)
c.200C= (p.Ala67=)
c.176C= (p.Ala59=)
1g.45508306C>GCA340132278MMACHCc.371C>G (p.Ala124Gly)
c.200C>G (p.Ala67Gly)
c.176C>G (p.Ala59Gly)
1g.45508306C>TCA21829332MMACHCc.371C>T (p.Ala124Val)
c.200C>T (p.Ala67Val)
c.176C>T (p.Ala59Val)
 dbSNP gnomAD v3 gnomAD v4
1g.45508307T>ACA417705543MMACHCc.372T>A (p.Ala124=)
c.201T>A (p.Ala67=)
c.177T>A (p.Ala59=)
 dbSNP
1g.45508307T>CCA417705544MMACHCc.372T>C (p.Ala124=)
c.201T>C (p.Ala67=)
c.177T>C (p.Ala59=)
 ClinVar dbSNP gnomAD v4
1g.45508307T>GCA417705545MMACHCc.372T>G (p.Ala124=)
c.201T>G (p.Ala67=)
c.177T>G (p.Ala59=)
 gnomAD v4
1g.45508307T=CA2473783382MMACHCc.372T= (p.Ala124=)
c.201T= (p.Ala67=)
c.177T= (p.Ala59=)
1g.45508308G>ACA340132280MMACHCc.373G>A (p.Gly125Arg)
c.202G>A (p.Gly68Arg)
c.178G>A (p.Gly60Arg)
 gnomAD v4
1g.45508308G>CCA340132281MMACHCc.373G>C (p.Gly125Arg)
c.202G>C (p.Gly68Arg)
c.178G>C (p.Gly60Arg)
1g.45508308G>TCA340132279MMACHCc.373G>T (p.Gly125Trp)
c.202G>T (p.Gly68Trp)
c.178G>T (p.Gly60Trp)
1g.45508309G>ACA340132282MMACHCc.374G>A (p.Gly125Glu)
c.203G>A (p.Gly68Glu)
c.179G>A (p.Gly60Glu)
 dbSNP gnomAD v4
1g.45508309G>CCA827718MMACHCc.374G>C (p.Gly125Ala)
c.203G>C (p.Gly68Ala)
c.179G>C (p.Gly60Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508309G=CA2473783383MMACHCc.374G= (p.Gly125=)
c.203G= (p.Gly68=)
c.179G= (p.Gly60=)
1g.45508309G>TCA340132283MMACHCc.374G>T (p.Gly125Val)
c.203G>T (p.Gly68Val)
c.179G>T (p.Gly60Val)
1g.45508310G>ACA417705547MMACHCc.375G>A (p.Gly125=)
c.204G>A (p.Gly68=)
c.180G>A (p.Gly60=)
1g.45508310G>CCA21829333MMACHCc.375G>C (p.Gly125=)
c.204G>C (p.Gly68=)
c.180G>C (p.Gly60=)
 ClinVar dbSNP
1g.45508310G=CA1143633752MMACHCc.375G= (p.Gly125=)
c.204G= (p.Gly68=)
c.180G= (p.Gly60=)
1g.45508310G>TCA417705548MMACHCc.375G>T (p.Gly125=)
c.204G>T (p.Gly68=)
c.180G>T (p.Gly60=)
 ClinVar
1g.45508311G>ACA340132286MMACHCc.376G>A (p.Ala126Thr)
c.205G>A (p.Ala69Thr)
c.181G>A (p.Ala61Thr)
 dbSNP
1g.45508311G>CCA340132288MMACHCc.376G>C (p.Ala126Pro)
c.205G>C (p.Ala69Pro)
c.181G>C (p.Ala61Pro)
1g.45508311G=CA2473783384MMACHCc.376G= (p.Ala126=)
c.205G= (p.Ala69=)
c.181G= (p.Ala61=)
1g.45508311G>TCA340132290MMACHCc.376G>T (p.Ala126Ser)
c.205G>T (p.Ala69Ser)
c.181G>T (p.Ala61Ser)
1g.45508312C>ACA340132294MMACHCc.377C>A (p.Ala126Asp)
c.206C>A (p.Ala69Asp)
c.182C>A (p.Ala61Asp)
1g.45508312C=CA2473783385MMACHCc.377C= (p.Ala126=)
c.206C= (p.Ala69=)
c.182C= (p.Ala61=)
1g.45508312C>GCA340132297MMACHCc.377C>G (p.Ala126Gly)
c.206C>G (p.Ala69Gly)
c.182C>G (p.Ala61Gly)
1g.45508312C>TCA340132300MMACHCc.377C>T (p.Ala126Val)
c.206C>T (p.Ala69Val)
c.182C>T (p.Ala61Val)
 dbSNP
1g.45508313T>ACA417705551MMACHCc.378T>A (p.Ala126=)
c.207T>A (p.Ala69=)
c.183T>A (p.Ala61=)
1g.45508313T>CCA417705552MMACHCc.378T>C (p.Ala126=)
c.207T>C (p.Ala69=)
c.183T>C (p.Ala61=)
1g.45508313T>GCA417705553MMACHCc.378T>G (p.Ala126=)
c.207T>G (p.Ala69=)
c.183T>G (p.Ala61=)
1g.45508314G>ACA340132303MMACHCc.379G>A (p.Ala127Thr)
c.208G>A (p.Ala70Thr)
c.184G>A (p.Ala62Thr)
1g.45508314G>CCA340132308MMACHCc.379G>C (p.Ala127Pro)
c.208G>C (p.Ala70Pro)
c.184G>C (p.Ala62Pro)
1g.45508314G>TCA340132306MMACHCc.379G>T (p.Ala127Ser)
c.208G>T (p.Ala70Ser)
c.184G>T (p.Ala62Ser)
1g.45508315C>ACA340132311MMACHCc.380C>A (p.Ala127Asp)
c.209C>A (p.Ala70Asp)
c.185C>A (p.Ala62Asp)
1g.45508315C>GCA340132312MMACHCc.380C>G (p.Ala127Gly)
c.209C>G (p.Ala70Gly)
c.185C>G (p.Ala62Gly)
1g.45508315C>TCA340132314MMACHCc.380C>T (p.Ala127Val)
c.209C>T (p.Ala70Val)
c.185C>T (p.Ala62Val)
1g.45508316T>ACA417705559MMACHCc.381T>A (p.Ala127=)
c.210T>A (p.Ala70=)
c.186T>A (p.Ala62=)
1g.45508316T>CCA417705558MMACHCc.381T>C (p.Ala127=)
c.210T>C (p.Ala70=)
c.186T>C (p.Ala62=)
 gnomAD v4
1g.45508316T>GCA417705557MMACHCc.381T>G (p.Ala127=)
c.210T>G (p.Ala70=)
c.186T>G (p.Ala62=)
1g.45508316_45508319delinsTTACCA2473783386MMACHCc.381_384delinsTTAC (p.Ala127=)
c.210_213delinsTTAC (p.Ala70=)
c.186_189delinsTTAC (p.Ala62=)
1g.45508317T>ACA340132319MMACHCc.382T>A (p.Tyr128Asn)
c.211T>A (p.Tyr71Asn)
c.187T>A (p.Tyr63Asn)
1g.45508317T>CCA340132328MMACHCc.382T>C (p.Tyr128His)
c.211T>C (p.Tyr71His)
c.187T>C (p.Tyr63His)
 dbSNP gnomAD v3 gnomAD v4
1g.45508317T>GCA340132325MMACHCc.382T>G (p.Tyr128Asp)
c.211T>G (p.Tyr71Asp)
c.187T>G (p.Tyr63Asp)
1g.45508317T=CA2473783387MMACHCc.382T= (p.Tyr128=)
c.211T= (p.Tyr71=)
c.187T= (p.Tyr63=)
1g.45508323_45508325delCA312739MMACHCc.388_390del (p.Tyr130del)
c.217_219del (p.Tyr73del)
c.193_195del (p.Tyr65del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508318A=CA2473783388MMACHCc.383A= (p.Tyr128=)
c.212A= (p.Tyr71=)
c.188A= (p.Tyr63=)
1g.45508318A>CCA21829337MMACHCc.383A>C (p.Tyr128Ser)
c.212A>C (p.Tyr71Ser)
c.188A>C (p.Tyr63Ser)
 dbSNP
1g.45508318A>GCA340132331MMACHCc.383A>G (p.Tyr128Cys)
c.212A>G (p.Tyr71Cys)
c.188A>G (p.Tyr63Cys)
1g.45508318A>TCA340132333MMACHCc.383A>T (p.Tyr128Phe)
c.212A>T (p.Tyr71Phe)
c.188A>T (p.Tyr63Phe)
 gnomAD v4
1g.45508318_45508319delCA913075166MMACHCc.383_384del (p.Tyr128LeufsTer10)
c.212_213del (p.Tyr71LeufsTer10)
c.188_189del (p.Tyr63LeufsTer10)
1g.45508318_45508319delinsACCA2473783389MMACHCc.383_384delinsAC (p.Tyr128=)
c.212_213delinsAC (p.Tyr71=)
c.188_189delinsAC (p.Tyr63=)
1g.45508319delCA522810654MMACHCc.384del (p.Tyr129ThrfsTer?)
c.213del (p.Tyr72ThrfsTer?)
c.189del (p.Tyr64ThrfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508319C>ACA340132336MMACHCc.384C>A (p.Tyr128Ter)
c.213C>A (p.Tyr71Ter)
c.189C>A (p.Tyr63Ter)
1g.45508319C>GCA340132339MMACHCc.384C>G (p.Tyr128Ter)
c.213C>G (p.Tyr71Ter)
c.189C>G (p.Tyr63Ter)
1g.45508319C>TCA417705563MMACHCc.384C>T (p.Tyr128=)
c.213C>T (p.Tyr71=)
c.189C>T (p.Tyr63=)
1g.45508320T>ACA340132341MMACHCc.385T>A (p.Tyr129Asn)
c.214T>A (p.Tyr72Asn)
c.190T>A (p.Tyr64Asn)
1g.45508320T>CCA827719MMACHCc.385T>C (p.Tyr129His)
c.214T>C (p.Tyr72His)
c.190T>C (p.Tyr64His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508320T>GCA340132344MMACHCc.385T>G (p.Tyr129Asp)
c.214T>G (p.Tyr72Asp)
c.190T>G (p.Tyr64Asp)
1g.45508320T=CA2473783390MMACHCc.385T= (p.Tyr129=)
c.214T= (p.Tyr72=)
c.190T= (p.Tyr64=)
1g.45508321A=CA2473783391MMACHCc.386A= (p.Tyr129=)
c.215A= (p.Tyr72=)
c.191A= (p.Tyr64=)
1g.45508321A>CCA340132349MMACHCc.386A>C (p.Tyr129Ser)
c.215A>C (p.Tyr72Ser)
c.191A>C (p.Tyr64Ser)
1g.45508321A>GCA340132347MMACHCc.386A>G (p.Tyr129Cys)
c.215A>G (p.Tyr72Cys)
c.191A>G (p.Tyr64Cys)
 dbSNP gnomAD v4
1g.45508321A>TCA340132352MMACHCc.386A>T (p.Tyr129Phe)
c.215A>T (p.Tyr72Phe)
c.191A>T (p.Tyr64Phe)
1g.45508322C>ACA340132355MMACHCc.387C>A (p.Tyr129Ter)
c.216C>A (p.Tyr72Ter)
c.192C>A (p.Tyr64Ter)
1g.45508322C=CA2473783392MMACHCc.387C= (p.Tyr129=)
c.216C= (p.Tyr72=)
c.192C= (p.Tyr64=)
1g.45508322C>GCA340132358MMACHCc.387C>G (p.Tyr129Ter)
c.216C>G (p.Tyr72Ter)
c.192C>G (p.Tyr64Ter)
1g.45508322C>TCA417705564MMACHCc.387C>T (p.Tyr129=)
c.216C>T (p.Tyr72=)
c.192C>T (p.Tyr64=)
 dbSNP gnomAD v2
1g.45508323T>ACA340132360MMACHCc.388T>A (p.Tyr130Asn)
c.217T>A (p.Tyr73Asn)
c.193T>A (p.Tyr65Asn)
1g.45508323T>CCA827720MMACHCc.388T>C (p.Tyr130His)
c.217T>C (p.Tyr73His)
c.193T>C (p.Tyr65His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508323T>GCA340132365MMACHCc.388T>G (p.Tyr130Asp)
c.217T>G (p.Tyr73Asp)
c.193T>G (p.Tyr65Asp)
1g.45508323T=CA1143876814MMACHCc.388T= (p.Tyr130=)
c.217T= (p.Tyr73=)
c.193T= (p.Tyr65=)
1g.45508323_45508326delinsTACCCA2473783393MMACHCc.388_391delinsTACC (p.Tyr130=)
c.217_220delinsTACC (p.Tyr73=)
c.193_196delinsTACC (p.Tyr65=)
1g.45508324A=CA1143395024MMACHCc.389A= (p.Tyr130=)
c.218A= (p.Tyr73=)
c.194A= (p.Tyr65=)
1g.45508324A>CCA340132368MMACHCc.389A>C (p.Tyr130Ser)
c.218A>C (p.Tyr73Ser)
c.194A>C (p.Tyr65Ser)
1g.45508324A>GCA827721MMACHCc.389A>G (p.Tyr130Cys)
c.218A>G (p.Tyr73Cys)
c.194A>G (p.Tyr65Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508324A>TCA340132370MMACHCc.389A>T (p.Tyr130Phe)
c.218A>T (p.Tyr73Phe)
c.194A>T (p.Tyr65Phe)
1g.45508325_45508327delCA2473783394MMACHCc.390_392del (p.Tyr130Ter)
c.219_221del (p.Tyr73Ter)
c.195_197del (p.Tyr65Ter)
 dbSNP
1g.45508326_45508329delCA913075167MMACHCc.391_394del (p.Gln131AspfsTer?)
c.220_223del (p.Gln74AspfsTer?)
c.196_199del (p.Gln66AspfsTer?)

Number of alleles fetched