Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508924_45508936delCA913075176MMACHCc.558_570del (p.Ala187ProfsTer19)
c.387_399del (p.Ala130ProfsTer19)
c.363_375del (p.Ala122ProfsTer19)
1g.45508924_45508936delinsAGCTGACCGTATCCA2473783710MMACHCc.558_570delinsAGCTGACCGTATC (p.Arg186=)
c.387_399delinsAGCTGACCGTATC (p.Arg129=)
c.363_375delinsAGCTGACCGTATC (p.Arg121=)
1g.45508927_45508938delCA658821031MMACHCc.561_572del (p.Asp188_Ala191del)
c.390_401del (p.Asp131_Ala134del)
c.366_377del (p.Asp123_Ala126del)
 ClinVar dbSNP
1g.45508932_45508940delCA2586966643MMACHCc.566_574del (p.Arg189_Ala191del)
c.395_403del (p.Arg132_Ala134del)
c.371_379del (p.Arg124_Ala126del)
1g.45508933T>ACA417881452MMACHCc.567T>A (p.Arg189=)
c.396T>A (p.Arg132=)
c.372T>A (p.Arg124=)
1g.45508933T>CCA417881450MMACHCc.567T>C (p.Arg189=)
c.396T>C (p.Arg132=)
c.372T>C (p.Arg124=)
1g.45508933T>GCA417881451MMACHCc.567T>G (p.Arg189=)
c.396T>G (p.Arg132=)
c.372T>G (p.Arg124=)
1g.45508933_45508934insCCTTCA2586966644MMACHCc.567_568insCCTT (p.Ile190ProfsTer14)
c.396_397insCCTT (p.Ile133ProfsTer14)
c.372_373insCCTT (p.Ile125ProfsTer14)
1g.45508933dupCA522810899MMACHCc.567dup (p.Ile190TyrfsTer13)
c.396dup (p.Ile133TyrfsTer13)
c.372dup (p.Ile125TyrfsTer13)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508934A>CCA340133482MMACHCc.568A>C (p.Ile190Leu)
c.397A>C (p.Ile133Leu)
c.373A>C (p.Ile125Leu)
1g.45508934A>GCA340133485MMACHCc.568A>G (p.Ile190Val)
c.397A>G (p.Ile133Val)
c.373A>G (p.Ile125Val)
1g.45508934A>TCA340133486MMACHCc.568A>T (p.Ile190Phe)
c.397A>T (p.Ile133Phe)
c.373A>T (p.Ile125Phe)
1g.45508935T>ACA340133489MMACHCc.569T>A (p.Ile190Asn)
c.398T>A (p.Ile133Asn)
c.374T>A (p.Ile125Asn)
1g.45508935T>CCA340133491MMACHCc.569T>C (p.Ile190Thr)
c.398T>C (p.Ile133Thr)
c.374T>C (p.Ile125Thr)
1g.45508935T>GCA340133493MMACHCc.569T>G (p.Ile190Ser)
c.398T>G (p.Ile133Ser)
c.374T>G (p.Ile125Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.45508935T=CA2473783715MMACHCc.569T= (p.Ile190=)
c.398T= (p.Ile133=)
c.374T= (p.Ile125=)
1g.45508936C>ACA417881453MMACHCc.570C>A (p.Ile190=)
c.399C>A (p.Ile133=)
c.375C>A (p.Ile125=)
1g.45508936C=CA2473783716MMACHCc.570C= (p.Ile190=)
c.399C= (p.Ile133=)
c.375C= (p.Ile125=)
1g.45508936C>GCA340133496MMACHCc.570C>G (p.Ile190Met)
c.399C>G (p.Ile133Met)
c.375C>G (p.Ile125Met)
1g.45508936C>TCA827794MMACHCc.570C>T (p.Ile190=)
c.399C>T (p.Ile133=)
c.375C>T (p.Ile125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508937_45508938delCA913075179MMACHCc.571_572del (p.Ala191ProfsTer11)
c.400_401del (p.Ala134ProfsTer11)
c.376_377del (p.Ala126ProfsTer11)
1g.45508936_45508937insTCA2586966645MMACHCc.570_571insT (p.Ala191CysfsTer12)
c.399_400insT (p.Ala134CysfsTer12)
c.375_376insT (p.Ala126CysfsTer12)
1g.45508937G>ACA827795MMACHCc.571G>A (p.Ala191Thr)
c.400G>A (p.Ala134Thr)
c.376G>A (p.Ala126Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508937G>CCA340133497MMACHCc.571G>C (p.Ala191Pro)
c.400G>C (p.Ala134Pro)
c.376G>C (p.Ala126Pro)
1g.45508937G=CA2473783718MMACHCc.571G= (p.Ala191=)
c.400G= (p.Ala134=)
c.376G= (p.Ala126=)
1g.45508937G>TCA21829760MMACHCc.571G>T (p.Ala191Ser)
c.400G>T (p.Ala134Ser)
c.376G>T (p.Ala126Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508937_45508938delinsGCCA2473783717MMACHCc.571_572delinsGC (p.Ala191=)
c.400_401delinsGC (p.Ala134=)
c.376_377delinsGC (p.Ala126=)
1g.45508938C>ACA340133500MMACHCc.572C>A (p.Ala191Asp)
c.401C>A (p.Ala134Asp)
c.377C>A (p.Ala126Asp)
1g.45508938C=CA1144060573MMACHCc.572C= (p.Ala191=)
c.401C= (p.Ala134=)
c.377C= (p.Ala126=)
1g.45508938C>GCA827796MMACHCc.572C>G (p.Ala191Gly)
c.401C>G (p.Ala134Gly)
c.377C>G (p.Ala126Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508938C>TCA827797MMACHCc.572C>T (p.Ala191Val)
c.401C>T (p.Ala134Val)
c.377C>T (p.Ala126Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508940delCA658821032MMACHCc.574del (p.Leu192TyrfsTer18)
c.403del (p.Leu135TyrfsTer18)
c.379del (p.Leu127TyrfsTer18)
 ClinVar dbSNP
1g.45508939C>ACA417881458MMACHCc.573C>A (p.Ala191=)
c.402C>A (p.Ala134=)
c.378C>A (p.Ala126=)
1g.45508939C=CA2473783719MMACHCc.573C= (p.Ala191=)
c.402C= (p.Ala134=)
c.378C= (p.Ala126=)
1g.45508939C>GCA417881459MMACHCc.573C>G (p.Ala191=)
c.402C>G (p.Ala134=)
c.378C>G (p.Ala126=)
1g.45508939C>TCA827798MMACHCc.573C>T (p.Ala191=)
c.402C>T (p.Ala134=)
c.378C>T (p.Ala126=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508940C>ACA340133504MMACHCc.574C>A (p.Leu192Ile)
c.403C>A (p.Leu135Ile)
c.379C>A (p.Leu127Ile)
1g.45508940C=CA2473783720MMACHCc.574C= (p.Leu192=)
c.403C= (p.Leu135=)
c.379C= (p.Leu127=)
1g.45508940C>GCA340133506MMACHCc.574C>G (p.Leu192Val)
c.403C>G (p.Leu135Val)
c.379C>G (p.Leu127Val)
 gnomAD v4
1g.45508940C>TCA827799MMACHCc.574C>T (p.Leu192=)
c.403C>T (p.Leu135=)
c.379C>T (p.Leu127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508940_45508941delinsCTCA2473783721MMACHCc.574_575delinsCT (p.Leu192=)
c.403_404delinsCT (p.Leu135=)
c.379_380delinsCT (p.Leu127=)
1g.45508941delCA2473783722MMACHCc.575del (p.Leu192HisfsTer18)
c.404del (p.Leu135HisfsTer18)
c.380del (p.Leu127HisfsTer18)
 dbSNP
1g.45508941T>ACA340133509MMACHCc.575T>A (p.Leu192Gln)
c.404T>A (p.Leu135Gln)
c.380T>A (p.Leu127Gln)
1g.45508941T>CCA340133511MMACHCc.575T>C (p.Leu192Pro)
c.404T>C (p.Leu135Pro)
c.380T>C (p.Leu127Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.45508941T>GCA340133513MMACHCc.575T>G (p.Leu192Arg)
c.404T>G (p.Leu135Arg)
c.380T>G (p.Leu127Arg)
1g.45508941T=CA2473783723MMACHCc.575T= (p.Leu192=)
c.404T= (p.Leu135=)
c.380T= (p.Leu127=)
1g.45508942A=CA2473783724MMACHCc.576A= (p.Leu192=)
c.405A= (p.Leu135=)
c.381A= (p.Leu127=)
1g.45508942A>CCA417881461MMACHCc.576A>C (p.Leu192=)
c.405A>C (p.Leu135=)
c.381A>C (p.Leu127=)
1g.45508942A>GCA417881462MMACHCc.576A>G (p.Leu192=)
c.405A>G (p.Leu135=)
c.381A>G (p.Leu127=)
 dbSNP gnomAD v2 gnomAD v4
1g.45508942A>TCA417881463MMACHCc.576A>T (p.Leu192=)
c.405A>T (p.Leu135=)
c.381A>T (p.Leu127=)

Number of alleles fetched