Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45509018_45509030delCA2743432547MMACHCc.652_664del (p.Glu218ThrfsTer?)
c.481_493del (p.Glu161ThrfsTer?)
c.457_469del (p.Glu153ThrfsTer?)
1g.45509027_45509030dupCA2580062911MMACHCc.661_664dup (p.Tyr222CysfsTer24)
c.490_493dup (p.Tyr165CysfsTer24)
c.466_469dup (p.Tyr157CysfsTer24)
 ClinVar
1g.45509029C>ACA417881715MMACHCc.663C>A (p.Ala221=)
c.492C>A (p.Ala164=)
c.468C>A (p.Ala156=)
 ClinVar
1g.45509029C=CA1148229315MMACHCc.663C= (p.Ala221=)
c.492C= (p.Ala164=)
c.468C= (p.Ala156=)
1g.45509029C>GCA417881716MMACHCc.663C>G (p.Ala221=)
c.492C>G (p.Ala164=)
c.468C>G (p.Ala156=)
1g.45509029C>TCA827826MMACHCc.663C>T (p.Ala221=)
c.492C>T (p.Ala164=)
c.468C>T (p.Ala156=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45509030T>ACA340133909MMACHCc.664T>A (p.Tyr222Asn)
c.493T>A (p.Tyr165Asn)
c.469T>A (p.Tyr157Asn)
1g.45509030T>CCA340133906MMACHCc.664T>C (p.Tyr222His)
c.493T>C (p.Tyr165His)
c.469T>C (p.Tyr157His)
 dbSNP gnomAD v4
1g.45509030T>GCA340133908MMACHCc.664T>G (p.Tyr222Asp)
c.493T>G (p.Tyr165Asp)
c.469T>G (p.Tyr157Asp)
1g.45509030T=CA2473783779MMACHCc.664T= (p.Tyr222=)
c.493T= (p.Tyr165=)
c.469T= (p.Tyr157=)
1g.45509031A>CCA340133911MMACHCc.665A>C (p.Tyr222Ser)
c.494A>C (p.Tyr165Ser)
c.470A>C (p.Tyr157Ser)
1g.45509031A>GCA340133912MMACHCc.665A>G (p.Tyr222Cys)
c.494A>G (p.Tyr165Cys)
c.470A>G (p.Tyr157Cys)
 gnomAD v4
1g.45509031A>TCA340133914MMACHCc.665A>T (p.Tyr222Phe)
c.494A>T (p.Tyr165Phe)
c.470A>T (p.Tyr157Phe)
1g.45509031_45509034delinsACTTCA2473783780MMACHCc.665_668delinsACTT (p.Tyr222=)
c.494_497delinsACTT (p.Tyr165=)
c.470_473delinsACTT (p.Tyr157=)
1g.45509032C>ACA827827MMACHCc.666C>A (p.Tyr222Ter)
c.495C>A (p.Tyr165Ter)
c.471C>A (p.Tyr157Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509032C=CA1143471572MMACHCc.666C= (p.Tyr222=)
c.495C= (p.Tyr165=)
c.471C= (p.Tyr157=)
1g.45509032C>GCA340133917MMACHCc.666C>G (p.Tyr222Ter)
c.495C>G (p.Tyr165Ter)
c.471C>G (p.Tyr157Ter)
1g.45509032C>TCA417881717MMACHCc.666C>T (p.Tyr222=)
c.495C>T (p.Tyr165=)
c.471C>T (p.Tyr157=)
 dbSNP
1g.45509034_45509036delCA522810970MMACHCc.668_670del (p.Phe223del)
c.497_499del (p.Phe166del)
c.473_475del (p.Phe158del)
 dbSNP gnomAD v2 gnomAD v4
1g.45509033T>ACA340133924MMACHCc.667T>A (p.Phe223Ile)
c.496T>A (p.Phe166Ile)
c.472T>A (p.Phe158Ile)
1g.45509033T>CCA340133920MMACHCc.667T>C (p.Phe223Leu)
c.496T>C (p.Phe166Leu)
c.472T>C (p.Phe158Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45509033T>GCA340133922MMACHCc.667T>G (p.Phe223Val)
c.496T>G (p.Phe166Val)
c.472T>G (p.Phe158Val)
1g.45509033T=CA2473783781MMACHCc.667T= (p.Phe223=)
c.496T= (p.Phe166=)
c.472T= (p.Phe158=)
1g.45509034T>ACA340133925MMACHCc.668T>A (p.Phe223Tyr)
c.497T>A (p.Phe166Tyr)
c.473T>A (p.Phe158Tyr)
1g.45509034T>CCA340133927MMACHCc.668T>C (p.Phe223Ser)
c.497T>C (p.Phe166Ser)
c.473T>C (p.Phe158Ser)
 ClinVar
1g.45509034T>GCA340133929MMACHCc.668T>G (p.Phe223Cys)
c.497T>G (p.Phe166Cys)
c.473T>G (p.Phe158Cys)
1g.45509034_45509039delinsTCTCCACA2473783782MMACHCc.668_673delinsTCTCCA (p.Phe223=)
c.497_502delinsTCTCCA (p.Phe166=)
c.473_478delinsTCTCCA (p.Phe158=)
1g.45509035C>ACA340133931MMACHCc.669C>A (p.Phe223Leu)
c.498C>A (p.Phe166Leu)
c.474C>A (p.Phe158Leu)
1g.45509035C>GCA340133933MMACHCc.669C>G (p.Phe223Leu)
c.498C>G (p.Phe166Leu)
c.474C>G (p.Phe158Leu)
1g.45509035C>TCA417881718MMACHCc.669C>T (p.Phe223=)
c.498C>T (p.Phe166=)
c.474C>T (p.Phe158=)
1g.45509041_45509045delCA522810971MMACHCc.675_679del (p.Pro226CysfsTer17)
c.504_508del (p.Pro169CysfsTer17)
c.480_484del (p.Pro161CysfsTer17)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45509036T>ACA340133936MMACHCc.670T>A (p.Ser224Thr)
c.499T>A (p.Ser167Thr)
c.475T>A (p.Ser159Thr)
1g.45509036T>CCA340133938MMACHCc.670T>C (p.Ser224Pro)
c.499T>C (p.Ser167Pro)
c.475T>C (p.Ser159Pro)
 gnomAD v4
1g.45509036T>GCA340133937MMACHCc.670T>G (p.Ser224Ala)
c.499T>G (p.Ser167Ala)
c.475T>G (p.Ser159Ala)
1g.45509037C>ACA340133940MMACHCc.671C>A (p.Ser224Tyr)
c.500C>A (p.Ser167Tyr)
c.476C>A (p.Ser159Tyr)
1g.45509037C>GCA340133942MMACHCc.671C>G (p.Ser224Cys)
c.500C>G (p.Ser167Cys)
c.476C>G (p.Ser159Cys)
1g.45509037C>TCA340133944MMACHCc.671C>T (p.Ser224Phe)
c.500C>T (p.Ser167Phe)
c.476C>T (p.Ser159Phe)
1g.45509037_45509059delCA2743432559MMACHCc.671_693del (p.Ser224CysfsTer13)
c.500_522del (p.Ser167CysfsTer13)
c.476_498del (p.Ser159CysfsTer13)
1g.45509038C>ACA417881719MMACHCc.672C>A (p.Ser224=)
c.501C>A (p.Ser167=)
c.477C>A (p.Ser159=)
1g.45509038C>GCA417881720MMACHCc.672C>G (p.Ser224=)
c.501C>G (p.Ser167=)
c.477C>G (p.Ser159=)
1g.45509038C>TCA417881721MMACHCc.672C>T (p.Ser224=)
c.501C>T (p.Ser167=)
c.477C>T (p.Ser159=)
 gnomAD v4
1g.45509039A>CCA340133946MMACHCc.673A>C (p.Thr225Pro)
c.502A>C (p.Thr168Pro)
c.478A>C (p.Thr160Pro)
1g.45509039A>GCA340133948MMACHCc.673A>G (p.Thr225Ala)
c.502A>G (p.Thr168Ala)
c.478A>G (p.Thr160Ala)
1g.45509039A>TCA340133950MMACHCc.673A>T (p.Thr225Ser)
c.502A>T (p.Thr168Ser)
c.478A>T (p.Thr160Ser)
1g.45509040C>ACA340133952MMACHCc.674C>A (p.Thr225Asn)
c.503C>A (p.Thr168Asn)
c.479C>A (p.Thr160Asn)
1g.45509040C=CA2473783783MMACHCc.674C= (p.Thr225=)
c.503C= (p.Thr168=)
c.479C= (p.Thr160=)
1g.45509040C>GCA340133954MMACHCc.674C>G (p.Thr225Ser)
c.503C>G (p.Thr168Ser)
c.479C>G (p.Thr160Ser)
 dbSNP
1g.45509040C>TCA340133956MMACHCc.674C>T (p.Thr225Ile)
c.503C>T (p.Thr168Ile)
c.479C>T (p.Thr160Ile)
1g.45509041T>ACA417881722MMACHCc.675T>A (p.Thr225=)
c.504T>A (p.Thr168=)
c.480T>A (p.Thr160=)
1g.45509041T>CCA417881723MMACHCc.675T>C (p.Thr225=)
c.504T>C (p.Thr168=)
c.480T>C (p.Thr160=)

Number of alleles fetched