Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
1g.45508837G>ACA340133123MMACHCc.471G>A (p.Trp157Ter)
c.300G>A (p.Trp100Ter)
c.276G>A (p.Trp92Ter)
 ClinVar dbSNP
1g.45508837G>CCA21829669MMACHCc.471G>C (p.Trp157Cys)
c.300G>C (p.Trp100Cys)
c.276G>C (p.Trp92Cys)
 ClinVar dbSNP gnomAD v4
1g.45508837G=CA2473783664MMACHCc.471G= (p.Trp157=)
c.300G= (p.Trp100=)
c.276G= (p.Trp92=)
1g.45508837G>TCA340133120MMACHCc.471G>T (p.Trp157Cys)
c.300G>T (p.Trp100Cys)
c.276G>T (p.Trp92Cys)
 dbSNP
1g.45508838T>ACA340133125MMACHCc.472T>A (p.Phe158Ile)
c.301T>A (p.Phe101Ile)
c.277T>A (p.Phe93Ile)
1g.45508838T>CCA312734MMACHCc.472T>C (p.Phe158Leu)
c.301T>C (p.Phe101Leu)
c.277T>C (p.Phe93Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508838T>GCA340133128MMACHCc.472T>G (p.Phe158Val)
c.301T>G (p.Phe101Val)
c.277T>G (p.Phe93Val)
1g.45508838T=CA1143474430MMACHCc.472T= (p.Phe158=)
c.301T= (p.Phe101=)
c.277T= (p.Phe93=)
1g.45508839T>ACA340133130MMACHCc.473T>A (p.Phe158Tyr)
c.302T>A (p.Phe101Tyr)
c.278T>A (p.Phe93Tyr)
1g.45508839T>CCA340133132MMACHCc.473T>C (p.Phe158Ser)
c.302T>C (p.Phe101Ser)
c.278T>C (p.Phe93Ser)
 ClinVar dbSNP
1g.45508839T>GCA340133134MMACHCc.473T>G (p.Phe158Cys)
c.302T>G (p.Phe101Cys)
c.278T>G (p.Phe93Cys)
1g.45508839T=CA2473783665MMACHCc.473T= (p.Phe158=)
c.302T= (p.Phe101=)
c.278T= (p.Phe93=)
1g.45508840T>ACA340133136MMACHCc.474T>A (p.Phe158Leu)
c.303T>A (p.Phe101Leu)
c.279T>A (p.Phe93Leu)
1g.45508840T>CCA417881273MMACHCc.474T>C (p.Phe158=)
c.303T>C (p.Phe101=)
c.279T>C (p.Phe93=)
1g.45508840T>GCA340133138MMACHCc.474T>G (p.Phe158Leu)
c.303T>G (p.Phe101Leu)
c.279T>G (p.Phe93Leu)
1g.45508841G>ACA340133140MMACHCc.475G>A (p.Ala159Thr)
c.304G>A (p.Ala102Thr)
c.280G>A (p.Ala94Thr)
1g.45508841G>CCA340133141MMACHCc.475G>C (p.Ala159Pro)
c.304G>C (p.Ala102Pro)
c.280G>C (p.Ala94Pro)
1g.45508841G>TCA340133142MMACHCc.475G>T (p.Ala159Ser)
c.304G>T (p.Ala102Ser)
c.280G>T (p.Ala94Ser)
1g.45508842C>ACA340133150MMACHCc.476C>A (p.Ala159Asp)
c.305C>A (p.Ala102Asp)
c.281C>A (p.Ala94Asp)
1g.45508842C>GCA340133148MMACHCc.476C>G (p.Ala159Gly)
c.305C>G (p.Ala102Gly)
c.281C>G (p.Ala94Gly)
1g.45508842C>TCA340133146MMACHCc.476C>T (p.Ala159Val)
c.305C>T (p.Ala102Val)
c.281C>T (p.Ala94Val)
 gnomAD v4
1g.45508844_45508847delCA2573051585MMACHCc.478_481del (p.Ile160GlufsTer3)
c.307_310del (p.Ile103GlufsTer3)
c.283_286del (p.Ile95GlufsTer3)
 ClinVar dbSNP gnomAD v4
1g.45508843C>ACA417881279MMACHCc.477C>A (p.Ala159=)
c.306C>A (p.Ala102=)
c.282C>A (p.Ala94=)
1g.45508843C=CA1148481504MMACHCc.477C= (p.Ala159=)
c.306C= (p.Ala102=)
c.282C= (p.Ala94=)
1g.45508843C>GCA417881278MMACHCc.477C>G (p.Ala159=)
c.306C>G (p.Ala102=)
c.282C>G (p.Ala94=)
1g.45508843C>TCA827771MMACHCc.477C>T (p.Ala159=)
c.306C>T (p.Ala102=)
c.282C>T (p.Ala94=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508843_45508844insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCA2580062897MMACHCc.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160HisfsTer22)
c.306_307insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile103HisfsTer22)
c.282_283insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile95HisfsTer22)
 ClinVar
1g.45508844A=CA2473783666MMACHCc.478A= (p.Ile160=)
c.307A= (p.Ile103=)
c.283A= (p.Ile95=)
1g.45508844A>CCA340133155MMACHCc.478A>C (p.Ile160Leu)
c.307A>C (p.Ile103Leu)
c.283A>C (p.Ile95Leu)
1g.45508844A>GCA827772MMACHCc.478A>G (p.Ile160Val)
c.307A>G (p.Ile103Val)
c.283A>G (p.Ile95Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508844A>TCA340133153MMACHCc.478A>T (p.Ile160Phe)
c.307A>T (p.Ile103Phe)
c.283A>T (p.Ile95Phe)
1g.45508845T>ACA340133156MMACHCc.479T>A (p.Ile160Asn)
c.308T>A (p.Ile103Asn)
c.284T>A (p.Ile95Asn)

Number of alleles fetched