Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508809_45508825delinsCTGGGGCTGGCA2573051584MMACHCc.443_459delinsCTGGGGCTGG (p.Val148AlafsTer14)
c.272_288delinsCTGGGGCTGG (p.Val91AlafsTer14)
c.248_264delinsCTGGGGCTGG (p.Val83AlafsTer14)
 ClinVar dbSNP
1g.45508817_45508827delCA2695198016MMACHCc.451_461del (p.His151TrpfsTer27)
c.280_290del (p.His94TrpfsTer27)
c.256_266del (p.His86TrpfsTer27)
 ClinVar
1g.45508825A>CCA417881257MMACHCc.459A>C (p.Arg153=)
c.288A>C (p.Arg96=)
c.264A>C (p.Arg88=)
1g.45508825A>GCA417881258MMACHCc.459A>G (p.Arg153=)
c.288A>G (p.Arg96=)
c.264A>G (p.Arg88=)
1g.45508825A>TCA417881259MMACHCc.459A>T (p.Arg153=)
c.288A>T (p.Arg96=)
c.264A>T (p.Arg88=)
1g.45508826T>ACA340133080MMACHCc.460T>A (p.Phe154Ile)
c.289T>A (p.Phe97Ile)
c.265T>A (p.Phe89Ile)
1g.45508826T>CCA340133082MMACHCc.460T>C (p.Phe154Leu)
c.289T>C (p.Phe97Leu)
c.265T>C (p.Phe89Leu)
 ClinVar dbSNP
1g.45508826T>GCA340133081MMACHCc.460T>G (p.Phe154Val)
c.289T>G (p.Phe97Val)
c.265T>G (p.Phe89Val)
1g.45508826T=CA2473783659MMACHCc.460T= (p.Phe154=)
c.289T= (p.Phe97=)
c.265T= (p.Phe89=)
1g.45508827T>ACA827767MMACHCc.461T>A (p.Phe154Tyr)
c.290T>A (p.Phe97Tyr)
c.266T>A (p.Phe89Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508827T>CCA340133086MMACHCc.461T>C (p.Phe154Ser)
c.290T>C (p.Phe97Ser)
c.266T>C (p.Phe89Ser)
 dbSNP
1g.45508827T>GCA340133087MMACHCc.461T>G (p.Phe154Cys)
c.290T>G (p.Phe97Cys)
c.266T>G (p.Phe89Cys)
1g.45508827T=CA2473783660MMACHCc.461T= (p.Phe154=)
c.290T= (p.Phe97=)
c.266T= (p.Phe89=)
1g.45508828T>ACA340133088MMACHCc.462T>A (p.Phe154Leu)
c.291T>A (p.Phe97Leu)
c.267T>A (p.Phe89Leu)
1g.45508828T>CCA827768MMACHCc.462T>C (p.Phe154=)
c.291T>C (p.Phe97=)
c.267T>C (p.Phe89=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508828T>GCA340133091MMACHCc.462T>G (p.Phe154Leu)
c.291T>G (p.Phe97Leu)
c.267T>G (p.Phe89Leu)
1g.45508828T=CA1143372242MMACHCc.462T= (p.Phe154=)
c.291T= (p.Phe97=)
c.267T= (p.Phe89=)
1g.45508829G>ACA340133092MMACHCc.463G>A (p.Gly155Arg)
c.292G>A (p.Gly98Arg)
c.268G>A (p.Gly90Arg)
 gnomAD v4
1g.45508829G>CCA340133093MMACHCc.463G>C (p.Gly155Arg)
c.292G>C (p.Gly98Arg)
c.268G>C (p.Gly90Arg)
 ClinVar
1g.45508829G>TCA340133095MMACHCc.463G>T (p.Gly155Trp)
c.292G>T (p.Gly98Trp)
c.268G>T (p.Gly90Trp)
1g.45508833delCA2574352272MMACHCc.467del (p.Gly156AlafsTer8)
c.296del (p.Gly99AlafsTer8)
c.272del (p.Gly91AlafsTer8)
1g.45508831_45508833delCA2586966640MMACHCc.465_467del (p.Gly156del)
c.294_296del (p.Gly99del)
c.270_272del (p.Gly91del)
1g.45508830G>ACA272842MMACHCc.464G>A (p.Gly155Glu)
c.293G>A (p.Gly98Glu)
c.269G>A (p.Gly90Glu)
 ClinVar dbSNP
1g.45508830G>CCA340133098MMACHCc.464G>C (p.Gly155Ala)
c.293G>C (p.Gly98Ala)
c.269G>C (p.Gly90Ala)
1g.45508830G=CA1148224329MMACHCc.464G= (p.Gly155=)
c.293G= (p.Gly98=)
c.269G= (p.Gly90=)
1g.45508830G>TCA340133097MMACHCc.464G>T (p.Gly155Val)
c.293G>T (p.Gly98Val)
c.269G>T (p.Gly90Val)
1g.45508831G>ACA827769MMACHCc.465G>A (p.Gly155=)
c.294G>A (p.Gly98=)
c.270G>A (p.Gly90=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508831G>CCA417881262MMACHCc.465G>C (p.Gly155=)
c.294G>C (p.Gly98=)
c.270G>C (p.Gly90=)
 gnomAD v4
1g.45508831G=CA1148414050MMACHCc.465G= (p.Gly155=)
c.294G= (p.Gly98=)
c.270G= (p.Gly90=)
1g.45508831G>TCA417881263MMACHCc.465G>T (p.Gly155=)
c.294G>T (p.Gly98=)
c.270G>T (p.Gly90=)
1g.45508832G>ACA827770MMACHCc.466G>A (p.Gly156Ser)
c.295G>A (p.Gly99Ser)
c.271G>A (p.Gly91Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508832G>CCA340133103MMACHCc.466G>C (p.Gly156Arg)
c.295G>C (p.Gly99Arg)
c.271G>C (p.Gly91Arg)
1g.45508832G=CA2473783661MMACHCc.466G= (p.Gly156=)
c.295G= (p.Gly99=)
c.271G= (p.Gly91=)
1g.45508832G>TCA340133106MMACHCc.466G>T (p.Gly156Cys)
c.295G>T (p.Gly99Cys)
c.271G>T (p.Gly91Cys)
1g.45508833G>ACA340133108MMACHCc.467G>A (p.Gly156Asp)
c.296G>A (p.Gly99Asp)
c.272G>A (p.Gly91Asp)
 ClinVar dbSNP gnomAD v4
1g.45508833G>CCA340133110MMACHCc.467G>C (p.Gly156Ala)
c.296G>C (p.Gly99Ala)
c.272G>C (p.Gly91Ala)
1g.45508833G=CA2473783662MMACHCc.467G= (p.Gly156=)
c.296G= (p.Gly99=)
c.272G= (p.Gly91=)
1g.45508833G>TCA340133111MMACHCc.467G>T (p.Gly156Val)
c.296G>T (p.Gly99Val)
c.272G>T (p.Gly91Val)
1g.45508834_45508836delCA2574352273MMACHCc.468_470del (p.Trp157del)
c.297_299del (p.Trp100del)
c.273_275del (p.Trp92del)
1g.45508834C>ACA417881268MMACHCc.468C>A (p.Gly156=)
c.297C>A (p.Gly99=)
c.273C>A (p.Gly91=)
1g.45508834C>GCA417881269MMACHCc.468C>G (p.Gly156=)
c.297C>G (p.Gly99=)
c.273C>G (p.Gly91=)
1g.45508834C>TCA417881270MMACHCc.468C>T (p.Gly156=)
c.297C>T (p.Gly99=)
c.273C>T (p.Gly91=)
1g.45508834_45508835delCA913185024MMACHCc.468_469del (p.Trp157ValfsTer24)
c.297_298del (p.Trp100ValfsTer24)
c.273_274del (p.Trp92ValfsTer24)
1g.45508835T>ACA340133112MMACHCc.469T>A (p.Trp157Arg)
c.298T>A (p.Trp100Arg)
c.274T>A (p.Trp92Arg)
1g.45508835T>CCA340133113MMACHCc.469T>C (p.Trp157Arg)
c.298T>C (p.Trp100Arg)
c.274T>C (p.Trp92Arg)
1g.45508835T>GCA340133114MMACHCc.469T>G (p.Trp157Gly)
c.298T>G (p.Trp100Gly)
c.274T>G (p.Trp92Gly)
1g.45508836G>ACA340133115MMACHCc.470G>A (p.Trp157Ter)
c.299G>A (p.Trp100Ter)
c.275G>A (p.Trp92Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.45508836G>CCA340133117MMACHCc.470G>C (p.Trp157Ser)
c.299G>C (p.Trp100Ser)
c.275G>C (p.Trp92Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.45508836G=CA2473783663MMACHCc.470G= (p.Trp157=)
c.299G= (p.Trp100=)
c.275G= (p.Trp92=)
1g.45508836G>TCA340133118MMACHCc.470G>T (p.Trp157Leu)
c.299G>T (p.Trp100Leu)
c.275G>T (p.Trp92Leu)

Number of alleles fetched