Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45507491C>ACA417704630MMACHCc.217C>A (p.Arg73=)
c.46C>A (p.Arg16=)
c.82-721C>A (n.82-721C>A)
1g.45507491C=CA2473783060MMACHCc.217C= (p.Arg73=)
c.46C= (p.Arg16=)
c.82-721C= (n.82-721C=)
1g.45507491C>GCA340131890MMACHCc.217C>G (p.Arg73Gly)
c.46C>G (p.Arg16Gly)
c.82-721C>G (n.82-721C>G)
1g.45507491C>TCA312728MMACHCc.217C>T (p.Arg73Ter)
c.46C>T (p.Arg16Ter)
c.82-721C>T (n.82-721C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45507492G>ACA827664MMACHCc.218G>A (p.Arg73Gln)
c.47G>A (p.Arg16Gln)
c.82-720G>A (n.82-720G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45507492G>CCA340131894MMACHCc.218G>C (p.Arg73Pro)
c.47G>C (p.Arg16Pro)
c.82-720G>C (n.82-720G>C)
1g.45507492G=CA2473783062MMACHCc.218G= (p.Arg73=)
c.47G= (p.Arg16=)
c.82-720G= (n.82-720G=)
1g.45507492G>TCA340131896MMACHCc.218G>T (p.Arg73Leu)
c.47G>T (p.Arg16Leu)
c.82-720G>T (n.82-720G>T)
1g.45507492_45507493delinsGACA2473783061MMACHCc.218_219delinsGA (p.Arg73=)
c.47_48delinsGA (p.Arg16=)
c.82-720_82-719delinsGA (n.82-720_82-719delinsGA)
1g.45507493A>CCA417704634MMACHCc.219A>C (p.Arg73=)
c.48A>C (p.Arg16=)
c.82-719A>C (n.82-719A>C)
1g.45507493A>GCA417704633MMACHCc.219A>G (p.Arg73=)
c.48A>G (p.Arg16=)
c.82-719A>G (n.82-719A>G)
1g.45507493A>TCA417704631MMACHCc.219A>T (p.Arg73=)
c.48A>T (p.Arg16=)
c.82-719A>T (n.82-719A>T)
1g.45507494delCA827665MMACHCc.220del (p.Met74CysfsTer2)
c.49del (p.Met17CysfsTer2)
c.82-718del (n.82-718del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45507494A>CCA340131900MMACHCc.220A>C (p.Met74Leu)
c.49A>C (p.Met17Leu)
c.82-718A>C (n.82-718A>C)
1g.45507494A>GCA340131901MMACHCc.220A>G (p.Met74Val)
c.49A>G (p.Met17Val)
c.82-718A>G (n.82-718A>G)
 gnomAD v4
1g.45507494A>TCA340131904MMACHCc.220A>T (p.Met74Leu)
c.49A>T (p.Met17Leu)
c.82-718A>T (n.82-718A>T)
1g.45507495T>ACA340131913MMACHCc.221T>A (p.Met74Lys)
c.50T>A (p.Met17Lys)
c.82-717T>A (n.82-717T>A)
1g.45507495T>CCA340131910MMACHCc.221T>C (p.Met74Thr)
c.50T>C (p.Met17Thr)
c.82-717T>C (n.82-717T>C)
 gnomAD v4
1g.45507495T>GCA340131907MMACHCc.221T>G (p.Met74Arg)
c.50T>G (p.Met17Arg)
c.82-717T>G (n.82-717T>G)
1g.45507496delCA2645390911MMACHCc.222del (p.Met74IlefsTer2)
c.51del (p.Met17IlefsTer2)
c.82-716del (n.82-716del)
 gnomAD v4
1g.45507496G>ACA340131915MMACHCc.222G>A (p.Met74Ile)
c.51G>A (p.Met17Ile)
c.82-716G>A (n.82-716G>A)
1g.45507496G>CCA827666MMACHCc.222G>C (p.Met74Ile)
c.51G>C (p.Met17Ile)
c.82-716G>C (n.82-716G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45507496G=CA2473783063MMACHCc.222G= (p.Met74=)
c.51G= (p.Met17=)
c.82-716G= (n.82-716G=)
1g.45507496G>TCA827667MMACHCc.222G>T (p.Met74Ile)
c.51G>T (p.Met17Ile)
c.82-716G>T (n.82-716G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45507496_45507500delinsGCTGACA2473783064MMACHCc.222_226delinsGCTGA (p.Met74=)
c.51_55delinsGCTGA (p.Met17=)
c.82-716_82-712delinsGCTGA (n.82-716_82-712delinsGCTGA)
1g.45507497C>ACA340131919MMACHCc.223C>A (p.Leu75Met)
c.52C>A (p.Leu18Met)
c.82-715C>A (n.82-715C>A)
1g.45507497C>GCA340131922MMACHCc.223C>G (p.Leu75Val)
c.52C>G (p.Leu18Val)
c.82-715C>G (n.82-715C>G)
1g.45507497C>TCA417704636MMACHCc.223C>T (p.Leu75=)
c.52C>T (p.Leu18=)
c.82-715C>T (n.82-715C>T)
 COSMIC
1g.45507502_45507505delCA736189248MMACHCc.228_231del (p.Asp77GlnfsTer22)
c.57_60del (p.Asp20GlnfsTer22)
c.82-710_82-707del (n.82-710_82-707del)
 dbSNP
1g.45507498T>ACA340131925MMACHCc.224T>A (p.Leu75Gln)
c.53T>A (p.Leu18Gln)
c.82-714T>A (n.82-714T>A)
1g.45507498T>CCA340131928MMACHCc.224T>C (p.Leu75Pro)
c.53T>C (p.Leu18Pro)
c.82-714T>C (n.82-714T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.45507498T>GCA340131930MMACHCc.224T>G (p.Leu75Arg)
c.53T>G (p.Leu18Arg)
c.82-714T>G (n.82-714T>G)
1g.45507498T=CA2473783065MMACHCc.224T= (p.Leu75=)
c.53T= (p.Leu18=)
c.82-714T= (n.82-714T=)
1g.45507499G>ACA827668MMACHCc.225G>A (p.Leu75=)
c.54G>A (p.Leu18=)
c.82-713G>A (n.82-713G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45507499G>CCA417704637MMACHCc.225G>C (p.Leu75=)
c.54G>C (p.Leu18=)
c.82-713G>C (n.82-713G>C)
1g.45507499G=CA2473783066MMACHCc.225G= (p.Leu75=)
c.54G= (p.Leu18=)
c.82-713G= (n.82-713G=)
1g.45507499G>TCA417704638MMACHCc.225G>T (p.Leu75=)
c.54G>T (p.Leu18=)
c.82-713G>T (n.82-713G>T)
1g.45507500A>CCA340131935MMACHCc.226A>C (p.Thr76Pro)
c.55A>C (p.Thr19Pro)
c.82-712A>C (n.82-712A>C)
1g.45507500A>GCA340131938MMACHCc.226A>G (p.Thr76Ala)
c.55A>G (p.Thr19Ala)
c.82-712A>G (n.82-712A>G)
1g.45507500A>TCA340131940MMACHCc.226A>T (p.Thr76Ser)
c.55A>T (p.Thr19Ser)
c.82-712A>T (n.82-712A>T)
1g.45507501C>ACA340131948MMACHCc.227C>A (p.Thr76Asn)
c.56C>A (p.Thr19Asn)
c.82-711C>A (n.82-711C>A)
 gnomAD v4
1g.45507501C=CA2473783067MMACHCc.227C= (p.Thr76=)
c.56C= (p.Thr19=)
c.82-711C= (n.82-711C=)
1g.45507501C>GCA340131945MMACHCc.227C>G (p.Thr76Ser)
c.56C>G (p.Thr19Ser)
c.82-711C>G (n.82-711C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.45507501C>TCA340131943MMACHCc.227C>T (p.Thr76Ile)
c.56C>T (p.Thr19Ile)
c.82-711C>T (n.82-711C>T)
1g.45507502T>ACA417704639MMACHCc.228T>A (p.Thr76=)
c.57T>A (p.Thr19=)
c.82-710T>A (n.82-710T>A)
 gnomAD v4
1g.45507502T>CCA417704640MMACHCc.228T>C (p.Thr76=)
c.57T>C (p.Thr19=)
c.82-710T>C (n.82-710T>C)
1g.45507502T>GCA417704641MMACHCc.228T>G (p.Thr76=)
c.57T>G (p.Thr19=)
c.82-710T>G (n.82-710T>G)
1g.45507503G>ACA340131951MMACHCc.229G>A (p.Asp77Asn)
c.58G>A (p.Asp20Asn)
c.82-709G>A (n.82-709G>A)
 gnomAD v4
1g.45507503G>CCA340131955MMACHCc.229G>C (p.Asp77His)
c.58G>C (p.Asp20His)
c.82-709G>C (n.82-709G>C)
1g.45507503G>TCA340131952MMACHCc.229G>T (p.Asp77Tyr)
c.58G>T (p.Asp20Tyr)
c.82-709G>T (n.82-709G>T)

Number of alleles fetched