Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45509021_45509023delCA1001244390MMACHCc.655_657del (p.Gln219del)
c.484_486del (p.Gln162del)
c.460_462del (p.Gln154del)
 dbSNP gnomAD v3 gnomAD v4
1g.45509021_45509024delinsCAGACA2473783775MMACHCc.655_658delinsCAGA (p.Gln219=)
c.484_487delinsCAGA (p.Gln162=)
c.460_463delinsCAGA (p.Gln154=)
1g.45509022A>CCA340133869MMACHCc.656A>C (p.Gln219Pro)
c.485A>C (p.Gln162Pro)
c.461A>C (p.Gln154Pro)
1g.45509022A>GCA340133871MMACHCc.656A>G (p.Gln219Arg)
c.485A>G (p.Gln162Arg)
c.461A>G (p.Gln154Arg)
 gnomAD v4
1g.45509022A>TCA340133873MMACHCc.656A>T (p.Gln219Leu)
c.485A>T (p.Gln162Leu)
c.461A>T (p.Gln154Leu)
1g.45509022_45509026delinsAGAAGCA1144232807MMACHCc.656_660delinsAGAAG (p.Gln219=)
c.485_489delinsAGAAG (p.Gln162=)
c.461_465delinsAGAAG (p.Gln154=)
1g.45509024_45509026dupCA2473783776MMACHCc.658_660dup (p.Lys220_Ala221insLys)
c.487_489dup (p.Lys163_Ala164insLys)
c.463_465dup (p.Lys155_Ala156insLys)
 dbSNP
1g.45509024_45509026delCA223197MMACHCc.658_660del (p.Lys220del)
c.487_489del (p.Lys163del)
c.463_465del (p.Lys155del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509023G>ACA417881713MMACHCc.657G>A (p.Gln219=)
c.486G>A (p.Gln162=)
c.462G>A (p.Gln154=)
1g.45509023G>CCA340133879MMACHCc.657G>C (p.Gln219His)
c.486G>C (p.Gln162His)
c.462G>C (p.Gln154His)
1g.45509023G>TCA340133882MMACHCc.657G>T (p.Gln219His)
c.486G>T (p.Gln162His)
c.462G>T (p.Gln154His)
1g.45509024A=CA1143390270MMACHCc.658A= (p.Lys220=)
c.487A= (p.Lys163=)
c.463A= (p.Lys155=)
1g.45509024A>CCA340133886MMACHCc.658A>C (p.Lys220Gln)
c.487A>C (p.Lys163Gln)
c.463A>C (p.Lys155Gln)
1g.45509024A>GCA827824MMACHCc.658A>G (p.Lys220Glu)
c.487A>G (p.Lys163Glu)
c.463A>G (p.Lys155Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509024A>TCA340133884MMACHCc.658A>T (p.Lys220Ter)
c.487A>T (p.Lys163Ter)
c.463A>T (p.Lys155Ter)
1g.45509025A=CA2473783777MMACHCc.659A= (p.Lys220=)
c.488A= (p.Lys163=)
c.464A= (p.Lys155=)
1g.45509025A>CCA827825MMACHCc.659A>C (p.Lys220Thr)
c.488A>C (p.Lys163Thr)
c.464A>C (p.Lys155Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45509025A>GCA340133888MMACHCc.659A>G (p.Lys220Arg)
c.488A>G (p.Lys163Arg)
c.464A>G (p.Lys155Arg)
1g.45509025A>TCA340133890MMACHCc.659A>T (p.Lys220Met)
c.488A>T (p.Lys163Met)
c.464A>T (p.Lys155Met)
1g.45509026G>ACA417881714MMACHCc.660G>A (p.Lys220=)
c.489G>A (p.Lys163=)
c.465G>A (p.Lys155=)
 dbSNP gnomAD v3 gnomAD v4
1g.45509026G>CCA340133891MMACHCc.660G>C (p.Lys220Asn)
c.489G>C (p.Lys163Asn)
c.465G>C (p.Lys155Asn)
1g.45509026G=CA2473783778MMACHCc.660G= (p.Lys220=)
c.489G= (p.Lys163=)
c.465G= (p.Lys155=)
1g.45509026G>TCA340133894MMACHCc.660G>T (p.Lys220Asn)
c.489G>T (p.Lys163Asn)
c.465G>T (p.Lys155Asn)
1g.45509027delCA2645391261MMACHCc.661del (p.Ala221ProfsTer?)
c.490del (p.Ala164ProfsTer?)
c.466del (p.Ala156ProfsTer?)
 gnomAD v4
1g.45509027G>ACA340133896MMACHCc.661G>A (p.Ala221Thr)
c.490G>A (p.Ala164Thr)
c.466G>A (p.Ala156Thr)
1g.45509027G>CCA340133898MMACHCc.661G>C (p.Ala221Pro)
c.490G>C (p.Ala164Pro)
c.466G>C (p.Ala156Pro)
1g.45509027G>TCA340133900MMACHCc.661G>T (p.Ala221Ser)
c.490G>T (p.Ala164Ser)
c.466G>T (p.Ala156Ser)
1g.45509027_45509030dupCA2580062911MMACHCc.661_664dup (p.Tyr222CysfsTer24)
c.490_493dup (p.Tyr165CysfsTer24)
c.466_469dup (p.Tyr157CysfsTer24)
 ClinVar
1g.45509028C>ACA340133902MMACHCc.662C>A (p.Ala221Asp)
c.491C>A (p.Ala164Asp)
c.467C>A (p.Ala156Asp)
1g.45509028C>GCA340133903MMACHCc.662C>G (p.Ala221Gly)
c.491C>G (p.Ala164Gly)
c.467C>G (p.Ala156Gly)
1g.45509028C>TCA340133904MMACHCc.662C>T (p.Ala221Val)
c.491C>T (p.Ala164Val)
c.467C>T (p.Ala156Val)
 gnomAD v4
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)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched